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In Your Words: A Walking Miracle

Posted on June 24, 2015 by Charlie

Linda Carter describes how myositis awakened her appreciation for life.

I want to do anything I can to help somebody know that there’s always a light at the end of the tunnel.

I have polymyositis and dermatomyositis. I was diagnosed May 8, 2008 by accident. I never knew I had it. It’s not a common illness. I was at work one day — I was in corporate America so I didn’t do any heavy lifting or anything like that — and I was just feeling a little fatigued. I went to lunch with a colleague of mine and I still wasn’t feeling that well, so I went and saw my doctor that evening after I got off work. When I went to sign in, I dropped the papers on the floor and as I squatted down to pick them up, that’s when it happened. I couldn’t get up. My body deflated. I had no muscles whatsoever.

I had no idea what was going on. When I went to the hospital none of the emergency physicians knew what was going on with me, except for one great doctor who just happened to be coming by, and he immediately diagnosed me with polymyositis. It’s so rare no one knew what it was.

Prior to that I was very active. I was working out, I was eating right, I was feeling no pain, and it just happened. I don’t know why. To my understanding, it happens to 1 out of every 100,000 people and I happened to be that one. It can happen to children, and it happens more in the African American heritage. It’s just not well known. I don’t wish it upon anyone, especially a child.

I ended up losing mobility. I became paralyzed for three years. I was back in a fetal position. As I was losing my mobility, and I became totally disabled, my family cared for me. I was in the hospital for a while, and they wanted to send me to a nursing home, but my family totally refused it; they took care of me. My mom, Maria Carter, my daughter, Mone’t Murray, and my sister, Mindy Carter took care of me 100% — bathing, changing, and feeding me. They did everything. But, I still had my wits about me. My brain didn’t shut down, so I knew everything that was going on. I’m so blessed to have had them in my life.

After year three of me being disabled, I was sleeping downstairs and one morning, I’ll never forget, it was in February around 2 a.m., and God spoke to me and said, “It’s time to sit up.” And I sat up. My daughter and my grandson were sleeping on the other couch in my den, and I called her name. She looked at me and screamed because I sat up by myself. This illness and any other illness, it doesn’t just affect the patient, it affects the families.

The doctors told me, off the record, that I had defied all medical theory. This is God’s work. There’s no way I should be sitting up, there’s no way I should have any movement in my body because I was stagnant for three years. My muscles were nothing. But God told me to sit up and I sat up. I started walking, and I’ve been walking ever since. No one can really explain why. My doctor best described it to me as a virus going through your body that has to take its course.

Through it all, I never lost faith. I never was angry because I knew this was something that God planned for me, for the good. I’m a whole different person now. To be able to see the trees and smell the flowers outside; for three years I didn’t know what it looked like outside, other than going to the doctors. Before, I never appreciated the trees and the grass growing, and the flowers blooming, and the birds chirping. It was a true testimony.

I still have symptoms. This will never leave me. But I know what to do. I learned to listen to my body. The best medicine for me is relaxation. I have to totally zone out and relax. Otherwise it could flare back up. I have a lot of problems going uphill. My upper thighs are the most damaged part of my body, that’s why it’s so hard for me to walk on an incline. This illness makes the immune system attack your muscles. And it attacks in your core. So my entire core was gone. But each day I walk. Now I’ll get on the treadmill and I’ll walk a quarter of a mile. And each day I get stronger and stronger. If anyone looked at me they’d never know I was ill. That’s how great I’ve healed. But, it is a silent illness. It can flare up at any given time. You just have to learn to listen to your body and I’ve learned to do that for the past several years.

I had to start over walking again, and I had to start over talking again, so I have to keep moving. I have to keep movement in my body. I’ll take a can of vegetables and just move my muscles in my arms, just to keep them strengthened, because at one time I couldn’t even lift my arms. I can’t be stagnant because that’s not helping me. I just have to keep moving. I have to exercise, but it has to be in moderation. I can’t over exert myself otherwise it will attack me again. So I have to listen to my body and everything has to be done in moderation.

Every normal person’s creatine kinase (CK) level is 0-300. When I was diagnosed mine was 16,800. I didn’t realize it, but I was dying. I had no clue. I now have a regiment of medications that I have to take, but I’m truly blessed because God graced me once again to be able to tell my story and let everyone know that just because you’re ill, doesn’t mean that it stops your life. My doctor said it perfectly when he told me: “You’re not ill, your muscles are ill. Don’t let the illness take control of you, you control the illness.” I think about that every day.

There are so many people with a silent illness. Some lose their faith and that’s the worst thing you can do. If you lose faith, you’re defeated. Another piece of advice that I tell people is that you have to fight. You want to live? You have to fight. You don’t want to be sick? You have to fight. Your mind is very powerful. You have to fight. I’m not going to let this get me. I’m just not. I didn’t, and I won’t.

I think myositis can be misunderstood. If you were to see me you’d never know that I was ill. But, I have to think about what I’m doing before I do it. A normal person will simply walk; I have to think about how I’m going to walk because I could fall at any minute. I have to think about everything that I do, while I’m doing it, but no one ever knows it because it looks like I’m doing it normally. I’m really not. I want people to be aware of the disease. It’s an illness that sneaks up on people. It’s an illness that should be talked about, because you might have it and not even know it.

This illness has taught me that life is precious. Don’t take anything for granted and listen to your body. Everyone’s body talks to them, you just have to listen. If you’re feeling a little sharp pain in your leg, your arm, or your stomach, there’s a reason. If you’re feeling fatigued, or you’re lying in bed all day long because you overdid it, there’s a reason. You have to listen to your body. And when your body tells you to calm down — not shut down — but calm down, then calm down. I’ve learned that more than anything else. My advice is to keep faith and believe that there is a light at the end of the tunnel. There’s a way to defeat, or to maintain, the disease. And with the help of your doctor, do your research. You have to research.

Daily life is a challenge, but each day I find myself getting stronger and stronger. I have no doubt in my mind that it’s going to get better and better, each and every day. My strongest support system is my family. Gradually my body is coming back to normal. I enjoy my two beautiful grandsons, Makai and Mykell. They’re my joy. I can’t always lift them up, but I can hold them.

Before myositis, I took a lot of things for granted. I took life for granted. I took walking for granted. I took living for granted. I took outside for granted. I could have looked at life a little bit differently. I’m humbled now. I take nothing for granted anymore. Now I dance with joy because I wake up. I thank God every day for waking me up, seeing another day, taking another breath.

I had an awakening. Life isn’t brand new, but it’s new. I’m a different person. I see things differently. I had my awakening and I’m good. I’m good.

Posted in Diseases, Featured, Media Center | Comments Off

Download CVC Desktop Wallpaper Images

Posted on June 23, 2015 by Charlie

Below you’ll find desktop wallpaper images to download and install on your computer. We hope you share these custom graphics with your friends and family. They’re free, and you can download as many of the graphics as you would like.

Click here to get instructions for changing your desktop image on Mac.
Click here to get instructions for changing your desktop image on Windows.
Click here to get instructions for changing your desktop image on iOS.
Click here to get instructions for changing your desktop image on Android.

Click on one of the sizes below to download:

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A Dose of Adherence

Posted on June 16, 2015 by Charlie

By Robert E. Mayfield, M.D.

The word “adherence” implies that the individual is taking an active role in the program they are practicing, while the word “compliance” implies that the individual is more or less following directions. This is why it is more important to address concerns of medications and the taking of them more appropriately as adherence.

Up to 50 percent of patients do not take their medications as prescribed.³ Although factors involved for this lack of adherence are myriad, there are three that are basic and relate to:

• The patient, who often lacks the involvement and health literacy demanded in administering their medications.
• The physician, who is often ineffective in communication regarding reasons for prescribing a medication, complications as a result of NOT taking a medication and the particular side effects of medications with possible ways to mitigate them.
• The program of health care that suffers from problems of limited time for patient appointments and difficulties with access to care.

These problems are not new to medicine in any way. Going back 2,000 years, the Hippocratic Oath states to the physician to “not only be prepared to do what is right himself, but also to make the patient…cooperate.” More recently, our former Surgeon General Dr. C. Everett Koop stated, “Drugs don’t work in patients who don’t take them.”

In efforts to enhance successful adherence, you should know your medications and why you are taking each individual prescription. In practice, many patients are notorious for stating, “I take a pink square one and a round white one.” Another frequent response is, “You should have them in my record.” Know your medications. If your doctor does not, insist that you review them at every visit. Keep a list of your medications with you at all times. While reviewing medications at every visit may seem redundant, there are many factors that make this necessary.  For instance, a doctor may forget to remove a discontinued medication from your list. Insurances change their formularies (menus of drugs covered by the plan) like people change underwear. As a result, different medications are often substituted into a patient’s regimen. Finally, most patients do not just see one doctor, especially those with a chronic or rare disease. Therefore, other physicians may be changing medications. Everyone must be on the same page and ultimately, the patient is as equally responsible as the physician for maintaining a correct list.

Once you know your medications, it will be easier for you to take them. However, you must also remember to take them. Incorporating a pillbox into your routine is most often the best way to achieve this critical goal. A pillbox provides you with a concrete visual cue as to whether you have taken your medications. Also, it allows you to keep your pill bottles in one secure and dedicated location. If you misplace your pillbox, at least you know where your main supply is. If you misplace a pill bottle, this can result in the loss of a month or even up to 90 days of a medication. This can be a very costly problem as not many patients are going to pay out-of-pocket for a misplaced prescription. An insurer or pharmacy will not pay for such a loss. Other methods to enhance your ability to remember to take your medication can involve a checklist on your calendar, setting alarms, or even using a service that can send you text messages as reminders.

Problems with side effects will also result in a failure to adhere. Rely on your physician for information on the most common side effects when you are beginning a drug that is new to you. In practice, a physician will know the most common side effects from feedback from his or her patients. While the pharmacy will provide you with a detailed list of side effects that is thoroughly researched, please bear in mind that these side effect profiles come from comparison to placebo (an inactive substance) and because our bodies do interesting things, not everything we experience is a true drug side effect. Make sure you get the answers that you need from your physician.

Getting those answers takes time for which the system often does not allow. When scheduling an appointment you can always try to ask for an extended visit or explain that you have multiple issues to discuss. Another way to help you in your education and adherence is to set up more frequent visits based on your needs and not the direction of the physician. Remember that adherence is a group effort. It is not solely your responsibility nor is it the sole responsibility of the physician. Adherence mandates a team approach.

Cost can prove a huge barrier to medication adherence. Some patients may take a medication every other day in order to “stretch things out.” Some will only take a medication when they feel bad. However, many disease states are silent in the early stages and feeling bad is a sign of progression of a disease and potentially permanent end-organ damage. Such nonadherence may make more medications necessary, and a greater expense.

To help meet the needs and requirements of successful adherence, Caring Voice Coalition is here. It is our mission to provide financial, educational and emotional support to our patients. Through financial support there is the elimination of the issue of cost. Educational and emotional support can assist in getting around the barriers discussed in taking your medications.

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In Your Words: Breaking Barriers

Posted on June 10, 2015 by Charlie

John Wolf became a leading advocate for CTX patients after his daughter was diagnosed with the rare disease.

Back when my daughter, Ashley, was diagnosed with cerebrotendinous xanthomatosis (CTX) in 2004 I quickly became aware of how rare this disease is. I immediately started researching CTX and started seeing doctors’ names coming up, but I really wanted to get in touch with patients or caregivers. It took six months of searching before I finally found a small support group.

I still remember how scared and alone we felt; we couldn’t find anyone else that was dealing with this. I don’t want anyone else to feel that way. I want to help as many people as possible.

Since the early symptoms of CTX appear rather benign, manageable conditions with the more severe symptoms occurring later in childhood to early adulthood, it’s easy to misdiagnose. That, combined with how rare it is, it’s easy to see how it can be missed.

Ashley had chronic diarrhea from birth, she struggled in school, had problems with learning and memorization, juvenile cataracts, and low weight. As she transitioned from infant to toddler and ate solid foods, the diarrhea became very apparent; that is when we started taking her to doctors to try and find out what was going on. Her pediatrician assured us that she would grow out of it, and we accepted that for some time. She was ultimately diagnosed with irritable bowel syndrome (IBS) and prescribed antidiarrheal medication, which worked for a period of time but eventually stopped being effective.

About a year later, when Ashley was 10 years old, she developed cataracts and the true diagnosis was discovered. We had never heard of CTX before. In my opinion the ophthalmologist saved her life.

I suggest other patients and caregivers of patients learn as much as possible about the disorder. Never give up, be persistent, and always ask questions. Make sure your doctor is providing the best care or is referring you to the best care possible. Know that you are not alone in your experience with the disease, and that the treatment is effective. Insist that a specialist who is educated about CTX conduct ongoing care.

With continued treatment, children with CTX can go on to live a normal life. The medication is a lifelong treatment so it is imperative that patients develop an independent habit of taking it properly, as early as possible, or that someone is appointed to ensure that this occurs. The medication replaces a bile acid in CTX patients that their liver doesn’t make.

In talking with other patients I realized early on that they had all experienced medical barriers in terms of treatment. That was the catalyst for me to put my foot into the advocacy space and start knocking on doors, sending emails and trying to figure out how we could establish a regular supply of this medication, not only for my daughter, but for everyone else that is currently diagnosed and those who are surely to come. That is how I got involved with the United Leukodystrophy Foundation (ULF). I’ve been on the board about nine years.

Ashley has been a rock star through all of this. She’s been inconvenienced with surgeries, and tests, and long stays in research labs and rightly makes the observation that it’s not fair and asks the “why me?” questions, but she hasn’t let her experiences diminish her outlook on life.

By all measures, Ashley is doing great now. She turned 21 in February and I am happy to say 11 years after diagnosis, that if you were to sit and have a conversation with her, you’d never know that this horrible disease has affected her.

Awareness and early detection is imperative. The sooner one can start treatment, the sooner the body chemistry can be normalized and the sooner symptoms can be prevented from developing. Ashley is a poster child for the effectiveness of the medicine. We’re very lucky that she’s still healthy.

When you look at the CTX patient population in the U.S. it’s very small, but there are people we don’t know about who are flying under the radar without a diagnosis. I’m confident that because of the neurological effects, a person can become severely disabled with this disease if left untreated.

Huge strides have been made to provide a standard of care for patients. But, I feel like there are a ton of other things that still need to be done: treatment protocols, research, and newborn screenings, which is going to be the next best thing to a cure if you can get someone started on treatment at birth.

I don’t think there’s any better answer than genetic therapy; I would really like to see that happen. We’re currently seeing strides in that area with other leukodystrophies, so I see it as a realistic possibility, but until then we’ve got to get these stopgap measures in place.

I’m inspired by the amazing individuals who have cared enough to listen to me, who have cared enough to invest huge sums of money, time, and effort to advocate for patients of CTX. They continue to work tirelessly to improve diagnosis, treatment, and care, and share the same passion that I do to help, despite the very low patient population.

I don’t feel like my work is done, though, in what I can do to be an advocate. There’s still much more to be done from an awareness and diagnostic perspective.

Learn more about their story, and CTX at www.ctxinfo.org

 

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Close Up: Heather Fortune

Posted on June 2, 2015 by Charlie

There’s never been a question about what I wanted to do. Growing up I knew I wanted to help others.

I currently live in Chesterfield, VA with my husband, Michael and son, Hayden. I’ve lived in the Richmond area my entire life. Before joining Caring Voice Coalition (CVC) in October 2014, during my last semester of undergraduate studies at Old Dominion University, I did an internship with the Children’s Hospital of Richmond at Virginia Commonwealth University. I was on the transitional care unit doing clinical social work. It was a great learning experience, and I felt it brought me full-circle. My older brother, Erik, lived on that unit for six years, so it was great to be able to come back around and be on the other side helping patients.

Erik was born at 25 weeks gestation and due to complications at birth he couldn’t walk or talk. He had special needs. He lived at home with us until he was 14 years old, so I grew up with nurses who were like family. Growing up I learned how to do breathing treatments and G-Tube feedings. I could do those things at a young age. Working with my brother and his therapists at school were integrated into my education as early as kindergarten. To me, it was a normal life, but to others it’s unique.

I have a bachelor’s degree in human services with a minor in psychology. I always knew I wanted to help others, but I was not sure exactly how I could do so. When I found human services it made sense. I thought, “This is it. This is what I want to do.” It’s helping others.

When I came across CVC, I thought it was wonderful. My family has been affected by chronic illnesses. Within a four-year span my mother was diagnosed with Marfan’s syndrome (a genetic disorder that affects connective tissue), then leukemia, and then lupus. She passed away in 2012. My younger brother Zach was also diagnosed with Marfan’s syndrome during that time.

My mother was a nurse and a huge advocate of quality of life and palliative care. She would tell me, “Heather, it’s about the quality of life, not quantity.” I didn’t understand that when I was younger, not even when my older brother died. It clicked more so when my mother battled her illnesses. She worked so hard. It started making sense to me what she had been telling me all those years. I understood. And I’m appreciative for that lesson.

So, I understand as a family member how difficult these situations can be, and how hard it can be to talk about things you don’t really want to talk about. I want CVC patients to know they can talk to us. I love it here. I’m part of a team that helps. A big thing for me is being able to take a little bit of the stress off our patients’ shoulders. The last thing they need to worry about is how they’re going to pay for the medications they need.

The basis of my inspiration has always been my brother Erik, but I’ve come to realize that a large part of that is my mother. I realize now how much she molded me into the woman I’ve become, and I now see her same personality traits in my younger brother Zach, who lives with the same condition she did. She always took the time to explain things. She was always helping. Now, I want to help. I want to give back. So much has been given to me over the years, now I want to help someone else.

Patients should know that everyone here at CVC has huge hearts, loves what they do, and enjoys coming in to work knowing that they’re going to help someone each day. The support here is amazing. Everyone has a passion for the part they play in CVC’s goals and mission to improve the lives of those we serve. I’m really grateful to be here and have the opportunity to work with our patients every day. I can’t imagine doing anything else.

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In Your Words: Lessons to be Learned

Posted on May 28, 2015 by Charlie

As a caregiver, Larry Harris is preparing for his wife’s future with Huntington’s disease one day at a time

Huntington’s disease (HD) has been a big curveball for us. It’s such a slow, gradual disease and it really snuck up on us in many ways.

My wife, Mary Jo, had been having symptoms but it was kind of misdiagnosed as depression and anxiety. In 2007 she was having problems at her job. It was frustrating for her. So, she resigned and we thought we’d find something different for her. Little did we know this HD was in the background. Her cognitive symptoms were starting to kick in right around the same time and it became literally impossible for her to really manage her life and get another job.

We kept going for several years. Mary Jo was going to counselors, she was going to psychiatrists, she was taking medications, and finally in 2011 we started talking to the doctors about her early onset dementia-type problems. We went to a neuropsychologist, had tests performed, and he said she was definitely impaired. So we applied for disability, but without the HD factor, we were denied. It was so frustrating; I didn’t know what to do.

Of course hindsight is 20/20, but Mary Jo’s older brother was also having cognitive-type issues at the same time. My sister-in-law called right around Christmas of 2013 to tell us he had been diagnosed with Huntington’s disease. I had never heard of it. That night I started reading about the symptoms and I knew. It hit home. I said, “This is what Mary Jo has, too.”

I started making phone calls and we were put in contact with Rush University Medical Center; they’re a center of excellence for HD in the Chicago area. For the first time it seemed like we were finally getting some traction. We got an appointment at Rush, and sure enough, on March 14, 2014, the doctor confirmed the diagnosis of HD for Mary Jo.

From that point, we went ahead and reapplied for Social Security disability. We had years of documentation and information, but it’s difficult to know how to put that together to present it properly. That’s where Caring Voice Coalition (CVC) came in and hit a home run for us. I had all the pieces of the puzzle but CVC was able to really put it together. We received notice in August of last year that we were approved. That was a huge blessing. Missing that second income had really been hurting us for several years. I kept saying, this is a double-edged sword here, you’re fighting the financial piece and you’re fighting the disease, too.

I say it’s like we were in a dark room fighting an opponent and we didn’t know who it was. Now at least the light’s on in the room. We’re still fighting something, but we know what it is and we have a lot of support to help fight it, too.

Before Mary Jo’s diagnosis, I didn’t know what was going on, and honestly I had a lot of anger and resentment. I wondered why she couldn’t get a job, why she couldn’t do this, why she couldn’t do that; it was frustrating and it was depressing. Now that’s not even a part of the picture. There’s no time for self-pity or feeling bad about yourself, it’s time to just do what you need to do. So, in that effect it’s been really liberating for me. Now that I know exactly what we’re dealing with, we can’t be bitter or angry because it’s not her fault.

Apparently Mary Jo inherited the HD from her father, but we’ve checked with family members and there doesn’t seem to be any history, so it seems to be a first-generation diagnosis. That part has been really puzzling and baffling. I know it’s bothered Mary Jo. We’re trying to figure it out…where did this come from?

The legacy piece has been difficult. We have one son, he’s a senior in high school, and he’s at risk, too. He has a 50% chance of having it, so that’s been emotional, thinking that he might also have a problem at some point. And it’s not just him, but all the children. Her brother has five children at risk so you worry about them, as well.

Now that we can see our opponent it’s been a lot easier, but it’s hard to know what’s going to happen with Mary Jo. Everyone’s unique, of course, so we don’t know exactly what path her life will take, but at least we have support and we know somewhat what to expect. We go to a monthly support group meeting at a local hospital and we’ve met some good sources there that I can call at anytime if I have any questions. Just knowing that they’re there if I need them is comforting.

I don’t think Mary Jo will really need 24/7 care for another 5-10 years, so we’re dealing with today, and hoping for the best, and planning for tomorrow the best we can. I want to help Mary Jo all the way. I prefer not to put her into nursing care, or a nursing facility, if I don’t have to. I want to try to take care of her for the rest of her life.

I think it is important to remember yourself, too, especially with exercise and eating right. Try to do everything you can to not forget about your own health, both mentally and physically. Once I found out Mary Jo’s diagnosis, it kind of just clicked. I felt like I really needed to get myself as strong as possible because this is going to be a long, challenging fight and my family needs me more than ever. So, I need to give everything I can, and be around as long as I can to be there for them, and be as strong as I can to help them. It’s going to be one heck of a battle, but I’m not going to give in or let it beat us.

I try to find the time to walk and I’ve been trying to get her to go, too. Really, we just structure the day to try and make sure we get everything in. I try to read; we’re always going to the library. And in the middle of this we also adopted a puppy. It’s good for me, though, because I’ll take walks with the dog outside and that’s a way for me to clear my mind.

Right now there’s plenty of time to be together, and have fun with each other. She still enjoys going to shows and concerts, and gardening, and of course we’re trying to do more walking together. And we try to have a sense of humor about things. Since she has trouble remembering words, we call it our daily game of charades. We act out whatever she’s trying to say. So we keep a sense of humor. I think that’s huge.

This disease scares me when I see how debilitating it can be to those suffering through the end stages of HD but I’ve postponed thinking about that right now because I choose not to be afraid. There is so much work to do and things to get done, including getting myself healthy and strong, so I’m not going to worry about that right now. I know if I do all the things that I have chosen to do right now, at that point in the future when Mary Jo’s health starts to decline I will be ready for it and I’ll deal with it when that day comes.

I have the Serenity Prayer posted in the den near my work area and try to say that prayer every day. I find it helpful to focus on the areas of our lives that I can change and make a difference today.

Things that you think you never could have coped with before, once they’re presented to you it’s almost like you’re forced to take it to another level that you didn’t even know existed. Mary Jo’s diagnosis has been very difficult to deal with, but it’s taught me to try to be more understanding, more patient, have more compassion, and don’t sweat the little stuff. It’s reminded me of what’s really important in life, and not to get upset over life’s daily inconveniences.

I have to remind myself everyday still, but I think there are lessons to be learned from Mary Jo’s HD and I try to keep my eyes open for those moments. I think there is a greater meaning to all of this and I try to see that whenever I can.

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Patient Association Profile: The Myositis Association

Posted on May 20, 2015 by Charlie

How long has The Myositis Association been in existence? Who does the association serve and what services does it offer?
The Myositis Association (TMA) was started in 1993 by Betty Curry, who was herself diagnosed with inclusion-body myositis and saw a need for education and support. TMA serves its members by providing education and support, and funding research into better treatments and ultimately a cure.

What are some of the things you do for The Myositis Association? How and why did you become involved?
I am the communications manager and write and edit many of TMA’s website and print resources. I also schedule our live discussion series with myositis experts, maintain social media, plan the conference content and refer members to appropriate resources as needed. I was actually recruited by the founder, Betty Curry. I was a health and features reporter working for a daily newspaper when she asked me to consider writing the quarterly newsletter and website content for her young organization. I was interested in the field of autoimmunity as my sister had just died from a lifelong struggle with an unspecified autoimmune disease.

What are some of the services that you feel are most needed among myositis families and patients?
Better diagnoses. Myositis patients are not alone among people with autoimmune disease in struggling for weeks, months and even years to get a correct diagnosis. Early diagnosis is crucial, even life-saving. People who are treated early on have a much better outcome generally. By the same token, people who are given powerful drugs that do no good in their particular case are harmed. We work constantly to educate physicians. We’ve had great success with a new program where myositis experts visit young health professionals. We’ve even recently had a board member with myositis volunteer for teaching rounds at a medical school.

Better treatments. The drugs presently available have many alarming side effects, and one form of myositis does not have any known treatment. We’re proud of our research program that funds fellowships for young doctors and grants for established researchers. In the last 12 years, TMA has funded 37 research projects directly related to myositis, for a total of $5 million. This year, several bequests have allowed us to increase our research funding.

Better information. This is an exciting time for autoimmune diseases, as we’re finding out more and more about environmental factors and lifestyle effects. For instance, as recently as 10 years ago, myositis patients were advised not to exercise, to avoid stress on already weakened muscles. In the last several years, researchers have found that exercise not only strengthens inflamed muscles but also has a systemic effect on inflammation. We take our role of keeping members up to date very seriously.

What do you think are the most important things for the newly diagnosed and their families to know?
Getting support from veteran myositis patients and good referrals to established myositis experts: both are of crucial importance that can greatly influence the course of the disease. We try to connect the newly diagnosed with both of these resources. We also provide as much information as we can on our website at www.myositis.org; in the hope that the newly diagnosed will begin with some knowledge of the disease.

What do you think the biggest challenges are for myositis patients and their families?
One of the biggest challenges for the patients we see is the sense of isolation. Not only are they going to physicians who may never have seen a case of myositis, but most likely they have never met another person with the same disease. We have accomplished a lot with our support groups and provide many other ways for patients to be in touch with each other and share knowledge – through social media, through our website forums, and through our Annual Patient Conference, which will be in Orlando Sept. 10 to 13 this year.

Do you refer patients to clinical trials?
We let our members know about clinical trials as soon as we know about them. Typically, researchers will come to us when they want to find myositis patients for potential studies.

What is most important for people to know about inflammatory myopathies?

I think the most important thing for the general public to know about all rare diseases is that collectively they take a huge toll in productivity and health care costs. The National Organization for Rare Disorders estimates that one in 10 Americans has a rare disease. We need to support research into these diseases and recognize those who struggle with them.

You will do better if you find a community that understands and supports you. The Myositis Association (TMA) provides many options for support.

Those with myositis face the difficulty dealing with a chronic illness, plus the extra challenge of having a rare disease. Because the disease is so rare, it’s hard to find others who understand what you are going through and the challenges posed by myositis. TMA helps resolve this problem through its Keep In Touch (KIT) member support network. KIT groups offer members the chance to join with others in their area and share mutual support, friendship and ideas.

TMA members often post remarks on the Community Forum about physicians they find especially helpful, coping strategies, or side effects experienced from particular medications. There is a Forum for each type of disease as well as a general Forum at TMA’s website.

Alternatively, TMA has an Ambassador program available for new members which is less formal than participating in a support group but gives new members the opportunity to speak with another member of TMA who has myositis and might be able to share some insights with you.

To speak with one of TMA’s ambassadors, email [email protected] or call 1-800-821-7356.

The Myositis Association
1737 King Street Ste 600
Alexandria, VA 22314
www.myositis.org

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In Your Words: Brothers in Arms, Part 2

Posted on May 15, 2015 by Charlie

Twin brothers Javier and Omar Estevez have been living with sarcoidosis for more than a decade. Within the past four years, they’ve also been diagnosed with pulmonary hypertension. They find strength and support in one another, and urge others with chronic illnesses to keep fighting with hope.

Click here to read part 1, Javier’s story.

I worked maybe three or four blocks away from the World Trade Center and several years after the 9/11 attacks I was having a lot of problems with shortness of breath when I was walking home from work. I couldn’t walk without coughing. I went to my family doctor and he sent me to a pulmonologist. About a month later test results confirmed the sarcoidosis.

I work in maintenance at the federal courthouse, primarily doing heating, ventilation, and air conditioning. Every night I would see trucks from the sanitation department cleaning all kinds of residue from the street and I would see all of this white powder come up. One day I asked about it and was told it was debris from the buildings, and it may contain asbestos. They thought that with the facemasks the air was ok to breathe, but it turned out that it wasn’t.

When I went to the pulmonologist they took an x-ray and said that a lot of the sacs inside of my lungs, which are supposed to work like a sponge, have debris and dust all over them; they’re not working to full capacity.

Later on, it started hurting my lungs a great deal, and it even started hurting my heart. The doctor explained that it’s due to a lack of oxygen. A right heart catheterization confirmed the pulmonary hypertension (PH). The doctor told me that this has probably been developing for some time. The PH is all due to the sarcoidosis.

Simple tasks, like climbing a flight of stairs, are daily challenges now. I’m still working, but last year alone I took around 30 sick days. The cold weather in New York hurts my lungs. It’s like squeezing an orange. Sometimes I have no other choice but to stay home from work because when I step outside it feels like the cold air freezes my lungs. I have a lot of problems breathing, even though I have medication.

My wife helps me; she’s been my rock. And of course I take my medication and I pray. I read Scripture to help me get through the day because for me, going through the day, mostly at work more than anything else, is very tough.

I feel that a lot of people don’t understand these illnesses. They see you going about and they think what’s that person walking around with that machine for? But they don’t know how we actually feel inside. People don’t realize how my lungs burn so much in the cold weather, and just to stop outside and hold onto a railing makes it worse.

I would like others with chronic illnesses to know that they’re not alone; that there’s hope. Caring Voice Coalition (CVC), they give you hope. In many ways CVC is the spokesperson for us, they go out there and fight for us. Sometimes when we have a certain problem or condition, you’re afraid to talk about it because you feel like you’re at the point where you feel like nobody’s there to help you. With CVC, I know I’m not the only one with this fight.

My illnesses have taught me that life is short and every day is a challenge, but you have to find a balance, have hope, and have positive friends and family. That will help you greatly. My wife says you have to find something in life that you love doing, like a passion, that will help you get your mind off your illness. I love fishing and traveling, that’s my passion. If I had money I would travel the world.

My twin brother and I are very close. It’s hard to believe we have the same illnesses, but I can relate to him more. We try to help each other and be a support system for each other.

Patients should follow their doctor’s orders and take life one day at a time. The most important thing is to enjoy life.

To cope with my symptoms I often use rest, laughter, and medication. My hope is that down the road, with new technology and more scientific data, and new medicines, all of us with this illness will someday be able to have a longer life.

 

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In Your Words: Brothers in Arms, Part 1

Posted on May 11, 2015 by Charlie

Twin brothers Javier and Omar Estevez have been living with sarcoidosis for more than a decade. Within the past four years, they’ve also been diagnosed with pulmonary hypertension. They find strength and support in one another, and urge others with chronic illnesses to keep fighting with hope.

 

I’m a retired New York City police officer. The sarcoidosis came from inhaling the debris from the 9/11 attacks. I was there about two days after the twin towers fell. At first I did perimeter security around the buildings, then they had me doing search-and-rescue. Eventually we began to tackle digging through the rubble for remains. I worked there about four to five months.

One day a sergeant asked me to get masks for the entire team of 10-12 guys but the Occupational Safety and Health Administration (OSHA) group had run out of them. In the meantime they wanted us to use a handkerchief or our sleeve to cover our noses and mouths while we were working. They got new masks after a while but they were paper-thin and only good for short periods because the air penetrated through and then you were right back to having the dust inside your nose and mouth and down your throat.

My first symptom was shortness of breath. I have two daughters, who were young at that time, and one day they were asking me to chase them. We were playing tag and as I tried to catch one of them I fell. I couldn’t breathe. I reported the next day to work and saw the police department’s doctor. I told her how I was feeling and she sent me to a pulmonologist.

I saw that pulmonologist for six years. He would prescribe medicine and tell me there’s a real problem, but he would never tell me the problem. Finally, I went to a different pulmonologist. I told him my conditions and how I was feeling and he did about 2 ½ hours-worth of work during that first visit. He said I wouldn’t be able to return to work because I was so sick.

In 2007 my current pulmonologist told me I would need a lung transplant. He said not right away, but in due time. I’m still trying to get on the waiting list. I’ve started the process but there are a battery of tests and insurance regulations that I’m still working through.

In 2011 I was diagnosed with pulmonary hypertension. I’m not able to do much of what I used to do — I can’t walk without an oxygen tank, and even with the oxygen tank it’s limited. I just did a six-minute walk test and I failed that miserably. I was only able to walk two minutes at a slow pace. I have the hobby of metal detecting, walking around the beach to give myself some exercise, and I can’t do that anymore. Traveling now, vacation-wise with my family, is also difficult. My daughters are still young, they’re 14 and 15 and they want to participate in things like zip lines and go on rides, but I can’t do that. And, when we take long flights I’ve got to think about the oxygen tanks that I must bring on board.

It’s tough, but I have my family’s support. They help me cope. I’m able to attend church and I do research on the computer; I enjoy reading articles. Most of all, I enjoy spending time with my family.

You have to stay strong, positive, and not give up. If and when you get diagnosed, look for a second opinion. Most importantly, don’t give up on your life. Just because you were diagnosed with an illness doesn’t mean you should get depressed and lay about. It means you need to remain strong, remain active, and pursue whatever you want to do with your life. Don’t think that it’s over because there is medication that could very well help.

To have my twin brother, who has the same conditions, understand what we’re going through and understand the pain, is awesome. Our illnesses are very misunderstood. They mimic a lot of different things so it’s important that a proper diagnosis is made. The sooner you get checked out and diagnosed the better the prognosis later down the line.

It’s very important to share your story with others because people like myself, who are closed off, need to know that there are individuals with similar conditions who understand.

Most importantly, don’t dwell on the illness. Enjoy your life to the fullest extent because tomorrow is not a guarantee. I give that advice to enjoy life because I was told once I only had a limited amount of time, maybe at most three years, and those three years have already gone by.

By remaining positive you will see a change in yourself.

Click here to read part 2, Omar’s Story.

 

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In Your Words: A change for the better

Posted on April 29, 2015 by Charlie

John Clarry gives his IPF diagnosis a workout

In life there are times when you have to change, and it’s a very lonely proposition. But when you do it — and you have to really put your mind to it — it can be very satisfying.

I was diagnosed with idiopathic pulmonary fibrosis (IPF) in September 2014. I was really taken aback. When someone tells you that you have two to three years to live, it shakes you up. The thing that I thought of immediately was my wife, and how I was going to break it to her. It was terrible.

The diagnosis was the bad news. The good news was that there’s medication to help treat the disease, which I started taking in November. My doctor also suggested an integrative medical approach, which treats the whole person — body, mind, and spirit — and using every resource available for a healthy change in lifestyle.

My wife says I’m the oldest gym rat alive because I’m there all the time now. I go at least three days a week, sometimes four or five. Some days I’m not feeling as well, so I’ll take time to rest. It’s been an incredibly interesting experience because I know I’m sick, but I actually feel better now than I have in years.

To give the backstory on where I was at that time of my IPF diagnosis, a year earlier I was having knee problems due to osteoporosis. I had been walking with a cane and doctors were talking about knee replacement. I wanted to avoid it any way I could, so they put me on an exercise program through the physical therapy department at Cleveland Clinic.

Today, I do 12 machines, seven of them are lower body and the other five are upper body. I started with lighter weights, about 20 pounds, and I’ve worked my way up to an average 85 pounds (the same as my age). I do two machines that are heavy leg machines, one at 135 pounds and the other at 125 pounds, so I’ve really worked my way up in strength. I’ve gained weight and lost inches from my waistline at the same time. I’ve turned a lot of fatty tissue into muscle.

Before I was diagnosed with IPF I went to my gerontologist because I was tired all the time and not as active. Previously, I had had a very active life. I didn’t retire until I was 70. I got a chance when I retired from engineering to be an apprentice sculptor and I did that for about eight years. It was a wonderful experience. I’m still working in clay and doing sketches. But, other than walking, I wasn’t doing any exercise at all.

I had lost a lot of weight in my mid 60s when I was diagnosed with Type 2 diabetes. My doctor wanted to put me on insulin so I asked if there was an alternative. They said I could lose weight and change my diet. He doubted I could do it. He said if I went back in 30 days and had lost one pound we could talk about it. Well, I went back and I had lost 16 pounds. He was very pleased and I became his star patient. I actually lost about 75 pounds altogether. The Type 2 diabetes and my sleep apnea went away.

If I put my mind to something I can change my ways, and I did. It was the same thing when I started the exercises for the knees. Fortunately, I’m not on oxygen but I see people at the gym who are. They may not be going as fast or as hard as I am, but they’re just as determined. I’m a goal-setter and my goal is to see my grandson graduate from high school. He’s 13, so I’ve got to beat a lot of odds to do that. But, I’m moving up.

When I found out that I had IPF I talked to one of the trainers at the gym where I was going for physical therapy and told him I had a lung problem and I wanted to exercise my lungs. He told me that I could do it by lifting the weights differently. Every weight I lift now, whether it’s upper body or lower body, I do a breathing exercise with it. I take a deep breath, hold, and then exhale. When I’m riding the stationary bike, I’m concentrating on my breathing just as I’m concentrating on the miles and the time. Part of it’s mental and part of it’s physical. You loosen your lungs and exercise them. It does feel uncomfortable for a while, but it goes away; you sort of break through a barrier.

I think that has really helped my lung capacity. My oxygen level when I was first tested was 89 and now it’s 97. That’s a huge change. You can see the surprise on a person’s face when they’re testing my oxygen level. Everyone sees that I’ve had a healthier progression.

With that being said, IPF is a very insidious disease. Some days I don’t really feel that hot, but I still go to the gym, whether I feel good or not. Instead of doing 30 minutes and seven miles on the bike, I’ll do 20 minutes. I don’t want to overdo it. If I’m not feeling well, I don’t do as much, but I still go. You’ve got to keep moving everyday.

When I was younger I didn’t exercise at all. It’s going on two years that I’ve been working out and I’m a great believer in it. My blood pressure, my heart rate, it’s all come down in the last two years.

I’m not as tired anymore, either. Before, I didn’t have the getup and go; I was falling asleep after dinner every night, and that was really annoying me. I’ve kind of reversed all of that. Now I can do about two hours of exercise every day, sometimes longer.

I believe in positive thinking. The first thing I do every morning when I wake up is smile. It gets your juices going. Sometimes it makes me laugh. I think the positive attitude has been survival on my part.  Attitude is so much of life. That’s the same way with having a disease like this. I was really down for about three or four days, and I don’t usually get down, but I was rethinking my whole life. I’ve decided I’m going to stay as healthy as I can to the end.

I attribute my progression to changing my lifestyle. I think a lot of it, too, is that my wife just refuses to even contemplate that I’m not going to lick this. She saw me do it with the Type 2 diabetes. I think it’s her positive attitude about it. If I’m feeling down, she’ll say, “Aw come on, stop being wimpy.” That’s the attitude I’m around. I’m around a very positive person.

My wife has had breast cancer twice and when she told me about her diagnosis the first time it was the same feeling that I had when I heard I have IPF. It’s like, “What? Did I really hear that right? I can’t believe it.” It just would not register. And then I started analyzing it. I didn’t feel doomed, or angry, just intense. I felt very intense. I was trying to figure out how I was going to learn enough about this disease to have a strategy. I was in a strategic mindset. I found I had all these assets: the clinic, a positive wife, a niece in the medical field, and good research, so I think I’ve done as well as I could.

I’ve had a good life. No matter what it is, my attitude is to either get an expert or learn as much as you can, then do whatever you can. If you have a chronic illness, evaluate your assets and your weaknesses. If you don’t feel you have enough assets, get more. Support groups are incredible assets.

Staying mentally positive is the biggest challenge. I have my routine now of going to the gym, meditation, and acupuncture. Having some type of routine is very helpful. Doing those exercises help me feel better and ready for the day, so staying active is really, really important.

I changed my lifestyle. Change is hard, but I stuck to it and I’m seeing results. I feel the results. I feel better — that’s the payoff.

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Newsmaker Q&A: Dr. Gerald Salen

Posted on April 20, 2015 by Charlie

Community recently spoke with Gerald Salen, M.D., internist and gastroenterologist at Rutgers New Jersey School’s Department of Medicine, about the cause, symptoms, and treatment for cerebrotendinous xanthomatosis (CTX).

What is CTX?
The first challenge is the name: Cerebrotendinous xanthomatosis. We call it CTX for short. It’s rare. There are only about 200 people in the U.S. that I’m aware of with this condition, but there are probably  more. It’s recessively inherited; it requires two bad copies of the same gene, one inherited from the mother and one inherited from the father.

The underlying defect is abnormal bile acid synthesis. In our liver we make two primary bile acids from cholesterol, one is called cholic acid and the other is called chenodeoxycholic acid. We make these bile acids daily; they facilitate the digestion of fat.

In CTX there is a block in bile acid synthesis. Chenodeoxycholic acid becomes deficient and this is what leads to the disease. Since a person with CTX cannot make chenodeoxycholic acid, their body produces precursors, which we call bile alcohols. It also produces a chemical called cholestanol. Over time, cholestanol builds up and forms deposits on the brain, tendons, eyes and other tissues.

What are the signs and symptoms of CTX?
It’s important to recognize that the symptoms mainly affect the loss of brain function causing dementia, mental retardation, behavioral and psychiatric problems, cerebellar ataxia, pyramidal tract paralysis, peripheral neuropathy, and epileptic seizures. As the disease blossoms over the years, it leads to a lot of impaired neurologic function.

But, in addition to that, cholestanol deposits in the cornea of the eye and cause juvenile cataracts, which is an early sign of the disease. And, a xanthoma (a rare growth containing cholesterol) can develop under the skin or along tendons.

CTX patients can also develop premature osteoporosis, kidney stones and gallstones. Children with this condition often show unexplained, chronic diarrhea.

Like all diseases where there’s too much cholesterol, premature atherosclerosis and heart attacks can develop as well.

What are the first steps in identifying CTX?
A child usually begins to show signs of neurological deficiency, perhaps a problem in school, or they may have unexplained juvenile cataracts.

We also look for a xanthoma; usually as a teenager the patient would have unexplained swelling of the tendons. A xanthoma usually develops in patients with high levels of cholesterol in the blood, but CTX patients have lower than normal cholesterol, so having this disparity between the xanthoma and the low cholesterol should be a warning sign.

In addition, elevated cholestanol levels in the blood, elevated cholestanol levels in the bile, and the presence of bile alcohols in the urine are all chemical findings of abnormal bile acid metabolism that underlie CTX.

Who should be tested?
I think that all children with unexplained diarrhea, juvenile cataracts with no apparent cause, and unexplained neurologic conditions should be tested for CTX.

What does testing entail?
A blood test confirmation with a urine test. The classic test is the finding of increased amounts of cholestanol in the blood. The elevation confirms the diagnosis of CTX.

The diagnosis can also be confirmed by doing genetic testing.

How important is early diagnosis?
If the diagnosis can be made early, before the more devastating neurological symptoms develop, treatment can prevent additional damage and lead to a normal and effective life.

What is the treatment?
If we begin to treat patients with chenodeoxycholic acid (this is now an FDA approved drug), given in a sufficiently high concentration it can shut down all the abnormal bile acid synthesis in the liver. The treatment is not a foreign chemical in the body; we’re replacing what should be there.

When that happens, the abnormal chemical levels fall and the level of bile alcohols in the urine diminish, and there’s improvement in neurological function. This is a very important part. The treatment stabilizes the disease in two ways: it prevents further neurological damage and at the same time the body attempts to excrete the extra, accumulated cholestanol, and there’s an improvement in nerve function and the quality of life improves in the patient.

That is the key point. Often times with inherited diseases there really isn’t any treatment and people continue to deteriorate. CTX is unlike that in terms of treatment. We have a good treatment and patients who have been treated have gone on to live a normal life.

What is your involvement with CTX research and testing?
Although I’m a trained gastroenterologist, I participated in a special fellowship at The Rockefeller University in 1970 that allowed me to investigate CTX patients and discover the absence of chenodeoxycholic acid and be able to treat them effectively. I’ve had 30 years experience treating CTX patients and have treated about 100 patients now.

There was a scientist by the name of John Menkes who first discovered that there was increased cholestanol in the brain of CTX patients, but I discovered that not only was the cholestanol distributed in the brain, but in all tissues of the body. And, most importantly, that this was due to abnormal bile acid synthesis.

I then made the next important discovery that I could replace that chenodeoxycholic acid by feeding the patient a sufficiently large dose that would shut down abnormal bile acid metabolism.

I followed up with Dr. Menkes and proved that we could use cholestanol measurements in the blood as a diagnostic test for CTX.

Although it’s a devastating disease if untreated, one of the important points about CTX is that there is a very good and effective treatment.

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In Your Words: Optimistic by Design

Posted on April 15, 2015 by Charlie

Having lived with nephrotic syndrome for 37 years, Suzanne Hemphill strives to educate others about kidney disease.

I have been living with nephrotic syndrome since 1977. I was 16 years old when I was diagnosed. I think I’m a bit of an unusual case because we detected it early, which doesn’t usually happen.

At the time, I was in high school and a photographer on the yearbook staff. We had a deadline for the yearbook and I was up all night long on my feet developing pictures in the darkroom. When I got home that morning my legs were so swollen they looked like elephant legs. My mother took me to the doctor and they didn’t know what it was at first. I was put to bed for a whole week. Then they scheduled a biopsy for me at Emory University Hospital in Atlanta and that’s when I found out that I had kidney disease.

I never really let it affect me because steroids always worked. I’m blessed that I’m not on dialysis and I haven’t needed a transplant. After 35 years of being on and off steroids, though, my periods of remission started getting less and less. It got to the point where I was only in remission for a month and I would relapse right after I came off the steroid. It was just awful. I didn’t know what I was going to do.

Fortunately, I’m on the board of the Kidney Foundation of the Greater Chattanooga Area in Tennessee and one of our board members is a nephrologist. I found out that the Southeast Renal Research Institute (SERRI) was doing a clinical trial on a test drug. With some great effort, on my second attempt, I got into the trial. I’ve been in remission now for almost 16 months, which is just stupendous. I feel better than I have in 15 years.

They’re doing trials to learn more about the drug. They’re using it not just for kidney disease, but also for multiple sclerosis and several other things. It’s just fantastic. The steroids had quit working, so it’s been a Godsend. It’s awesome.

I’ve always had a good attitude and a bright outlook and I really think that makes a difference in how things go health-wise, but there have been a lot of periods of me not feeling well. I would swell so much; all that weight comes on so fast from the steroids. All of a sudden you gain 40 pounds. It’s just terrible, you feel terrible. So, it really has been a struggle over the past 37 years.

It is so important to catch this stuff early. One of my big goals for the kidney foundation was for us to be able to do screenings and a couple of years ago we got enough funds to have our own machinery to do them. Now we go out in the community and offer screenings so that we can help catch other people early. It’s very exciting.

An early sign of nephrotic syndrome is swelling in your legs. I know women especially don’t think a whole lot about swelling in their legs, but it’s something that people really should pay more attention to. Some of the other signs are that if you’re losing protein in your urine it will get darker in color and it gets foamy. Diabetes causes a lot of kidney disease, although that wasn’t the case for me. High blood pressure is another thing that’s bad for the kidneys.

I think it’s important to have a good relationship with your doctor. You want to have a doctor who will sit down and talk to you and you can ask all the questions that you want, and they’ll answer them in a way that you understand. Don’t ignore things because the sooner you can get treatment, the better off you’re going to be. I’ve learned that there are consequences to waiting.

You can lose 80 percent of your kidney function before you realize what’s going on, so it’s a huge deal to pay attention and get tested. The earlier you find out about it, doctors can help prevent things from progressing so quickly. At the moment I have 82 percent kidney function. That’s a fabulous thing, but you have to stay on top of it. There’s no doubt that’s the most important thing, and that’s why I’m so passionate about people getting screened. I really feel like part of my calling is to help the kidney foundation. I would have never thought about doing anything for it if this hadn’t happened to me. It’s a really important part of why I think I’m around.

Being optimistic is very important. I think if you get down about having a disease, it can cause you to be sicker. Be optimistic, and really be proactive too. I think you have to be proactive, if you’re not proactive you’re not helping yourself.

I want to educate other people as well. I went on a trip with NephCure to Washington, D.C. a couple of years ago to try to get legislators to increase the budget for the National Institutes of Health (NIH). I’ve also gone before the Tennessee Legislature to help save the state’s renal disease program. I think it’s real important to stay involved.

People should also really consider being an organ donor. It’s just incredible that you can do that; it totally changes a person’s life when they get a kidney transplant.

My whole adult life has been with kidney disease. It’s been a crazy road, but I’m still thankful. I have a really strong faith. I really believe that God’s going to take care of me, whatever it is.

I’m a graphic designer and I totally love life and I love what I do. The biggest thing that I’ve learned through all of this is how important it is to appreciate every single day. People who have never been sick, who have never had any kind of problem or anything remotely serious don’t have a clue how precious life is, and how wonderful it is to feel good. I have this personal expression that I say all the time: “Better is better.” Anytime I feel better, that’s what I say because it’s true. If you haven’t felt well for a long time, feeling better is a huge thing. There are some days I’ll be driving down the road and I’ll tear up and cry because I’m so happy to be alive and to feel good.

So, I always try to have a positive outlook because it makes things easier if you do. I think it’s all about how you approach things that makes life better. I thank God that I’ve been able to have a good attitude about things, even when it was terrible and awful.

I’m thankful today and have really been taking advantage of every terrific day.

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So, what is sarcoidosis?

Posted on April 3, 2015 by Charlie

April is National Sarcoidosis Awareness Month. Sarcoidosis is a multi-system inflammatory disorder that affects people of any race, gender, and age worldwide. Symptoms can mimic other diseases, vary in the degree of severity, and change over time, therefore a proper diagnosis and a lifetime of quality care are needed. 

Sources mentioned in this graphic can be found at:
https://www.stopsarcoidosis.org/
http://www.mayoclinic.org/diseases-conditions/sarcoidosis/basics/definition/con-20022569
http://www.rightdiagnosis.com/s/sarcoidosis/stats.htm 

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Traveling for Treatment

Posted on March 16, 2015 by Charlie

When patients with rare, life-threatening, and chronic illnesses, and their families, must travel long distances for medical treatment, concerns about the costs of travel, lodging, and food can amplify their already significant stress.

Fortunately, a network of nonprofit hospital houses, respite houses, and transportation providers exists to ease the financial and emotional burdens of many patients and families in need, at little or no cost. In this article, we profile three such hospital house programs and a respite house program and include contact information for programs found at some of the major medical centers in the U.S., as well as for nonprofit medical transportation providers.

“I’ve talked to parents who’ve had to quit their jobs, because it’s a full-time job to deal with their children’s illnesses. It’s a real hardship, financially and emotionally,” says Dorie Hightower, media relations manager for The Children’s Inn at the National Institutes of Health (NIH) in Bethesda, Maryland.

“Some families are practically bankrupt from traveling all over the country looking for different treatments, but when they come here, they’re just so relieved that everything is free.”

Primarily sustained by donations, The Children’s Inn at NIH is a nonprofit, free inn for pediatric patients involved in clinical trials at NIH and their families. Since it opened in 1990, more than 12,500 seriously ill children and their families have stayed at the Inn, which can accommodate up to 65 families a night, at no cost to them. (A similar facility, The Edmund J. Safra Family Lodge at NIH, provides lodging at no cost to the families, caregivers and loved ones of adult patients taking part in clinical trials on the NIH campus.)

“What makes us unique is that all of the kids that are staying with us are participating in medical research at NIH,” says Jennie Lucca, chief program and services officer for The Children’s Inn at NIH. “And what that means is that they’re hoping for a cure or a treatment for themselves, while also advancing medical discoveries for everybody.

“The NIH treats the most rare and difficult diseases, and so they participate in protocols for a wide variety of heart, lung and blood disorders, rare genetic diseases, mental health disorders, and cancer,” explains Lucca.

“For example, a child can be diagnosed with leukemia, and leukemia has largely become an illness that’s very treatable, but the children that come to NIH would have a difficult to treat type of leukemia, where they’re really participating in research for a hope for a cure. And there is also a large undiagnosed diseases program at the NIH—a lot of our kids are coming with symptoms, but they don’t have a name for their disease yet.”

Since its Clinical Center opened in 1953, NIH has held thousands of clinical research trials for rare and chronic diseases, including chronic granulomatous disease, pulmonary hypertension, thalassemia, idiopathic pulmonary fibrosis, cutaneous lymphoma, childhood epilepsies, Huntington’s disease, sarcoidosis, myositis, and Gaucher’s disease.

“Parents typically find out [about The Children’s Inn at NIH] through their doctors,” says Hightower. “But I hear quite a few stories about parents who have done internet searches to find clinical trials. I even talked to a family who heard about the clinical trials through their school nurse. Oftentimes, because we’re research, they’re at the end of the line for the typical treatments, so they’re referred here.

“Doctors have said that The Children’s Inn has really empowered pediatric clinical research, because in the past, when people had to stay at hotels in the area, they weren’t able to retain these families in clinical trials, because it was expensive and inconvenient.

“There is no typical length of stay. Some people just stay a couple of days; others can stay for months. We’re right across the road from the NIH Clinical Center. You could send a child back here to sleep, where you wouldn’t have felt comfortable sending them to an area hotel with an IV. They’re able to stay here with their families, whereas otherwise they would have had to stay in the hospital.

“Nobody here wears white coats. It’s a very homelike environment. It’s a place to come back to after a long day at the hospital.”

To that end, in addition to accommodations, the The Children’s Inn also provides a range of recreational, educational, and therapeutic programming for families. While the NIH takes care of the children’s medical needs, The Children’s Inn tends to their social and emotional needs.

“We provide programs and services like financial support, grocery gift cards, therapeutic programs, and programs for caregivers,” says Lucca.

“Families have reflected to me how much it helps them to talk to other people who are in the same boat, so it provides that kind of support to be here,” says Hightower.

“Community or corporate groups come in two or three days a week and serve a homemade buffet dinner, or bring in food on those nights. We also have food supplies that are donated.”

Although there are cafeterias at the NIH Clinical Center, Hightower says that part of the reason that there are kitchens rather than cafeterias at The Children’s Inn is that families like being able to fix their own meals and eat what they’re used to, because it gives them more of a sense of normalcy.

A bus shuttle service takes families from The Children’s Inn to the grocery store and the mall. “We even have volunteers who are willing to go with them, for example, if a family doesn’t speak English well, and wants to go to the grocery store,” says Hightower. “We provide a list of the international food markets in the area, and we really work very closely with the NIH Clinical Center.”

“Every other Tuesday night, we have a bingo game, with prizes donated from the community. Activities can include trips to the ballpark and the circus. We have more than 200 volunteers and a lot of groups that help out.”

Amenities at The Children’s Inn include a teen lounge, a game room, an exercise room, a computer room and business center for the parents, a computer area for the children, a playroom, and a recently redesigned playground that won an award from the American Society of Landscape Architects.

“They thought of everything for children who might have different physical issues,” says Hightower. “There are all kinds of sensory things you wouldn’t see on a typical playground, so kids with all kinds of disabilities can go out there and have a great time.”

“We have a house just outside of campus, the Woodmont House, where we can support another five to seven families, and those tend to be families who are here for a longer period of time,” says Lucca.

“They’re no longer in the acute stage of the illness, so it’s a more transitional environment. They can be a little bit farther from the hospital.

“We are trying to fully and consistently meet patient needs, and that means responding to the evolving clinical needs. Whatever is happening with research and families is where we’re going to grow our programming.

“We have a pilot program called Isolate Inn. It’s a special program for kids who are on contact isolation. We’ve specially retrofitted four rooms at The Children’s Inn for those families, because if we didn’t have the rooms for the families, they would not be eligible to stay here. They would have to stay in a hotel.

“As treatments get more aggressive, there will be more secondary infections like MRSA and C.Diff and antibiotic-resistant organisms, and we will continue to look at that. We know that there’s more research going into stem cells and stem cell transplants, and so we likely will want to support those needs as well.

“It’s such a difficult journey that families are on, so we try to reduce their stress as much as possible and support them. Hopefully when they walk through those doors they feel this sense of home.

“Our mission is to reduce the burden of illness. We want them to be able to focus on what’s happening medically, and we try to take care of everything else.”

Information on NIH clinical research trials and those held at other national and international research institutes can be found at http://bit.ly/NIHtrials

See the sidebar for The Children’s Inn at NIH and The Edmund J. Safra Family Lodge at NIH contact information.

“Nora’s Home is only for transplant patients. That’s all we do,” says Kayla Lehmann, executive director for Nora’s Home for Transplant Patients and Their Families in Houston, Texas. Nora’s Home provides low-cost and no-cost lodging for pre-transplant and post-transplant patients and their families who travel to any of the Texas Medical Center transplant centers, conveniently located near the centers.

With 21 hospitals, 7.2 million visits per year and 171,000 annual surgeries, Texas Medical Center is the largest medical center in the world, and Nora’s Home serves patients of its four solid-organ hospitals. Transplant patients who’ve stayed at Nora’s Home include those being treated for a broad range of illnesses, including pulmonary hypertension, idiopathic pulmonary fibrosis, and nephrotic syndrome.

“We provide housing for patients who have had solid-organ transplants (heart, lung, kidney, and pancreas),” says Lehmann. “The heart and lung transplant patients have to be very near by when they’re waiting for the call. We’ve had patients live with us for three or four months before they get the [transplant] call.

“It’s more than a place to lay your head. It’s a place of camaraderie, education and support. We really do believe that it aids in the healing. It’s more than just going to a hotel room, where they’re alone. We provide education, therapy, and support groups.

Nora’s Home also has a full kitchen and a volunteer program, “Chef for a Day,” with community members, groups, friends and family coming in to prepare meals for families. “It’s really nice, when they come home from clinic or from the hospital, there’s a warm meal waiting for them.”

Post-transplant, Lehmann says, lung-transplant patients stay the longest. “It is very unique. They require a longer stay and a very strict protocol. They seem to be more susceptible to infection than most.”

In an effort to balance availability, Nora’s Home has dedicated 10 of its 16 rooms as long-term stays. In those 10 rooms, some patients stay up to a year.

“Some of the patients post-transplant develop low-grade viruses, and they need to stay near the Texas Medical Center six to eight months post-transplant. For each patient, it’s very unique. With our expansion, we will extend our long-term stay rooms.”

Lehmann says cost is determined on a sliding scale. “Our cost per room is $75 a night, but we have a separate fundraising arm, Adopt-A-Family, and 95 percent of our patients use that fund. We ask what you’re able to pay, and we confirm it with your financial counselor, and your transplant coordinator. Ninety-five percent of our patients cannot pay the $75 per night, and then we tap into our fundraising arm to subsidize that cost. All of our fundraising goes to fund the patients’ expenses. Our community has been very generous with that.”

Patients and caregivers form strong bonds and a sense of community at Nora’s Home. “Once we had a woman from Las Vegas who was here by herself for testing,” Lehmann recalls. “Other guests, who were the caretakers of family members staying at Nora’s home, accompanied her to every test for two days. They didn’t even know her. She ended up getting a transplant, and came back with a family member.

“The minute you walk in the door, there is family, there is friendship, and there is a support system. We’ve all walked the same walk. The struggles are all the same. The support system is there to protect you and to help you navigate. You’re home. Your fears are lessened and your burdens are lightened.

“What I’m hearing from patients is, it’s better than family, because everyone is trying to be so strong with their families, and the dynamics limit their sharing of their fears. And all of the sudden, you walk in to [find] that it’s ok to express your fears with someone who’s walking the same path as you.”

Empathy is a big factor in the sense of camaraderie at Nora’s Home. As with any other support group, says Lehmann, “It’s: ‘Yes, I understand. Yes, I had that virus,’ or, ‘Yes, I’m taking this medicine. Yes, I can’t breathe,’ and, ‘Yes, I needed this oxygen.’ All these things that other people don’t understand. Or it’s that pat on the back that says it’s going to be ok. It lightens your load, and it’s ok to cry. It’s a very powerful place.

“The fears are so strong, and I say this as a transplant patient. Four years ago, I had a kidney transplant. Nora’s Home hadn’t opened when I had my transplant. The first day, I went home from the transplant, and the week after, I had to go for my blood work at 6:30 in the morning, and then go back to see my doctor at 2 o’clock in the afternoon.

“I was lucky. I went five or six miles to my home and took a nap, and had friends drive me back, and the same people that had the blood work were sleeping in chairs with their families, and my first comment was, ‘Oh my goodness—there’s got to be a place for these people to go.’”

Hospitalized seven times in nine months after her transplant due to complications, Lehmann saw the need for a facility like Nora’s Home up close. “People plan for a transplant, but when you get sick post-transplant, it’s life or death. You’ve got to get to the hospital, and you’ve got to take care of rejection or infection very fast.

“These are the people who live 100 miles or a state away, and their wife can’t take off of work, or the kids don’t have daycare. These people were sleeping in their cars, and that’s where I really witnessed the needs. They have to stay nearby for their once- or twice-weekly treatments. The home away from home is necessary if they live too far away to travel back and forth.

“We have 16 family rooms. I would say 85 percent of our patients have one caregiver [with them] at a time. Every family room has two queen-size beds to sleep four and a private bath. For the long-term stays, usually the caregiver or the family members will switch off; they’ll rotate to take care of a long-term patient.”

Although Nora’s Home opened in November 2013, it is completely full, with a waiting list, with plans for expansion, both in the size of the facility, and in the types of transplant patients it accommodates.

“Our plan is to fund the addition of another 20 to 24 rooms within the next 12 months,” says Lehmann. “We are discussing zero-air flow rooms for the post-lung-transplant patients. That would be another layer of protection for them.

“We have MD Anderson Cancer Center here, which does stem cell and bone marrow transplants. Our board of directors will make a decision in December if we will include stem cell and bone marrow transplant patients, which is a whole other unique protocol.

“As part of our expansion program, we’re building the Nora’s Home Transplant Life Center, and it’s going to be an international and national teleconferencing support and education program, with a multi-tiered approach that’s going to be organ- and stage-specific.

“We’re going to have outreach, so, for instance, if you’re the caregiver at home who’s responsible for the post-transplant protocol, we can teleconference you. Caregivers, we’re finding, are the forgotten link. They’re the backbone, and we’re really focusing on them, because many times they’re the make it or break it for the compliance. Many times the transplant goes 100 percent well, but compliance will be the reason the person or the organ makes it years down the road.

“Many patients call in themselves when they’re coming in for transplant testing. There was a patient in New York, for instance, and his doctor for lung transplant basically said, ‘We can’t do anything for you. Go home.’ Someone had told him about transplants at Houston Methodist Hospital and said, ‘Give them a try.’ So he called us directly and made an appointment, and they transplanted him at Methodist. But he called us before he even got into Methodist.

“Once they call us, we confirm with their transplant coordinator that they are coming in for testing. Let’s say they need a flight here. We have some other foundations that provide out-of-pocket expenses for transportation. We have Angel Flights (see sidebar on page 25). We have three or four nonprofits that provide bus fare. We don’t apply directly [for the patients]. We give them the information. Once they get to Houston, we have Ground Angels, and we get them to Nora’s Home.

“Once they’re at Nora’s Home, we have free transportation every 15 minutes to the medical center. And then we also have pantry drives, so even if they don’t have food, we have food for them. We have volunteers that help them navigate the Texas Medical Center, because it is pretty overwhelming. It’s pretty large.

“It’s not a hotel. It’s a home-like environment. You share experiences, and you support each other. It’s a strong bond.”

See the sidebar contact information for Nora’s Home for Transplant Patients and Their Families.

Believe In Tomorrow Hospital Housing

“Primarily we provide hospital and respite housing for critically ill children and their families,” says Kate Sachs, communications director at the Baltimore, Maryland-based nonprofit Believe In Tomorrow Children’s Foundation.

“We define a critically ill child as any child under the age of 17 who is fighting some sort of life-threatening illness. These might include transplant patients, cancer patients and a whole range of other things.

“The hospital housing and the respite housing programs are separate from each other, so it’s a separate application process. Eligibility for each one is a little bit different.”

In Baltimore, Believe In Tomorrow’s hospital housing program provides overnight accommodations for families of critically ill children being treated at the Johns Hopkins Children’s Center.

“For this particular program, families have to be coming from at least 60 miles away,” Sachs explains. “We try to provide housing for those who really have to travel quite a distance to get there. Patients can be seen at Hopkins for a variety of illnesses. “

“If they’re having surgery, or treatment, or follow-up appointments with a doctor, any child who’s being seen at Johns Hopkins for some kind of life-threatening illness is eligible for housing here.

“There is no required cost. We do ask that families make a $20 per night donation. If they can’t afford that, we go to a lesser amount, and if they need financial aid, we can cover the rest of the cost.

“Some people’s insurance companies will cover the cost, or families and friends will, so there are other options, but we don’t turn families away if they can’t afford to stay there.”

Two buildings comprise the foundation’s hospital-housing program. The Believe In Tomorrow Children’s House at Johns Hopkins, across the street from the hospital, is its biggest facility, accommodating up to 15 families a night. “Stays range from one night to a couple of nights, to a couple of weeks, to occasionally, a couple of months,” says Sachs. “Whatever the family is there for, we try to accommodate their stay as much as possible.

“For families that need a longer term stay, we have The Believe In Tomorrow House at St. Casimir in Baltimore, which originally opened for Hopkins bone marrow transplant patients. Bone marrow transplant patients, following the transplant, need to stay within 10 to 15 minutes of the hospital, so this building was dedicated to them. And then, occasionally, if we have an open room, we’ll take other long-term cases, like organ transplant patients and families.

“We do ask that families provide their own transportation. Sometimes families don’t have a car, or they don’t bring their car, because they’re flying in, so we have volunteer van drivers at the house who will pick families up from the airport or the train station and take them back there. If families need to go to the grocery store or the pharmacy, or something that’s not quite walking distance from the hospital, we have van drivers a few times a week, so families can sign up and get around.

“Several different organizations in the city, like the Baltimore Aquarium, the Baltimore Zoo, and a lot of museums, including Port Discovery Children’s Museum, donate passes. So families can go out if they’re having a good day or they’re in between visits and get dropped off at one of these places and sightsee around Baltimore for a day.

“Every family’s room is its own, with two queen beds and a private bathroom. So you really have your sense of privacy, but then there are things like shared TV rooms and playrooms, where you can go and relax and not have to be in a medical setting, but still be with your family.

Sachs says the foundation would like to expand, as there is a growing need for more housing. “Even though the Children’s Hospital expanded last year to allow parents to stay in their rooms more comfortably with children, there are way more children than there are bedrooms. We try to help the sickest of the sick, and we try to have a balance between all the different departments in the hospital and different lengths of stays.

“The environment is very homelike. Our mission is to keep families together and to keep the tradition of a family intact during a child’s treatment and diagnosis.”

Amenities include laundry services, and two full kitchens that were redone last year, so that families can store food and cook meals. Volunteers lead activities and crafts and provide dinners five to six times a week.

“The houses are very supportive,” says Sachs. “We really promote families interacting with one another. We often have families whose children are seeing the same doctors or are there for the same type of treatment. They can really connect and form relationships.”

Believe In Tomorrow Respite Housing

While its hospital housing program is exclusive to patients of Johns Hopkins, The Believe In Tomorrow Foundation’s respite housing is open to pediatric patients with life-threatening illnesses, from medical facilities across the country, and their families.

The foundation’s five respite houses throughout the Mid-Atlantic region offer much needed, no-cost vacation lodging, providing a getaway for pediatric patients and their families who need respite during the child’s illness. Two houses in Ocean City, Maryland; one on Fenwick Island, Delaware; one in Western Maryland and another just outside of Asheville, North Carolina, offer accommodations ranging from a bright waterfront beach house to a cozy mountain lodge.

“The respite housing has a little bit different criteria,” Sachs explains. “It’s a different application and referral process. Children are eligible up to one year after they finish treatment. So if a child completes a treatment, for the following year, they can still use our programs, but then we say they’ve graduated, and hopefully they’re on to bigger and better things, and we always hope that they’re in remission and in good health,” says Sachs.

“This is 100 percent free for families to use. They just have to provide their own transportation to be able to get to the houses and get around when they’re there, because not everything is within walking distance. And we ask that they provide their own meals. We do offer a lot of different discounts and coupons from the local businesses for meals and activities, and all of our families get a welcome basket when they get in.

Two of the houses are dedicated (although not exclusively) to Believe In Tomorrow’s military initiative: the Believe In Tomorrow House On The Bay in Ocean City, Maryland, and the Believe In Tomorrow House at Pinnacle Falls, North Carolina.

“Ten years ago, we realized that military families have extra stress when they have a child with a critical illness,” says Sachs. “One parent might be deployed, or they might have to travel really far to get to a military hospital, so in the middle of this crazy, crazy situation, throw on top all these military situations that compound the problem. We just want to make it a little easier for those families, so if a military family applies, they are prioritized at one of these two houses.

“Families can come from anywhere in the U.S., as long as they meet the qualifications. If the family is willing to fly or drive, they are more than welcome to apply and visit our houses. We hope that they’ll make great memories, and then keep those memories forever.”

See sidebar for contact information for The Believe In Tomorrow Children’s Foundation.

 

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Winter Feast Part 4

Posted on February 27, 2015 by Charlie

Warm up this winter with these flavorful, nutritious dishes, from bite-sized snacks to hearty meals, served with health in mind!

Jennifer Stack is an associate professor of liberal arts at the Culinary Institute of America (CIA), in Hyde Park, New York, teaching nutrition and food safety to students in the college’s degree programs.  A registered dietitian and a certified diabetes educator, Stack is a 2003 CIA graduate and also holds a Master of Science degree in nutrition from New York University.

• 2 tablespoons almond oil
• 2 stalks celery, chopped (about 1 cup)
• 1 leek, white and light green parts, sliced (about 1½ cups)
• 1 small head cauliflower separated into florets (about 4 cups)
• 1 quart low-sodium chicken broth
• ½ teaspoon kosher salt
• ¼ teaspoon freshly ground black pepper
• ¼ teaspoon ground nutmeg
• ¼ cup almond-cashew cream
• ¼ cup chopped parsley
• ½ cup sliced almonds

• Heat the almond oil in a large soup pot over medium heat. Add the celery and sweat until it begins to soften. Add the leek and continue to sweat until both vegetables are soft.
• Steam a few cauliflower florets and set aside for garnish. Add the remaining cauliflower, the broth, salt, pepper, and nutmeg to the vegetable mixture and bring to a boil. Simmer until the cauliflower is soft, about 10 minutes.
• Puree the soup in a blender or food processor. Stir in the almond-cashew cream. Serve each bowl of soup garnished with 1 tablespoon of the parsley, 2 tablespoons of the almonds, and a few of the reserved cauliflower florets.

• 6 cups kale leaves, stems removed and packed
• ½ cup blue cheese dressing (recipe follows)
• ½ teaspoon sea salt

• Preheat the oven to 350°F. Tear the kale leaves into large pieces and toss with the blue cheese dressing. Place the leaves on a baking sheet lined with parchment paper and roast until the kale is dry and crispy, about 30 minutes. Toss with the sea salt and serve.

• 1 tablespoon walnut oil
• 2 tablespoons minced shallots
• 1 garlic clove, minced package soft silken tofu (about 3.2 ounces)
• ¼ cup crumbled blue cheese
• 1 tablespoon red wine vinegar
• 1 teaspoon fresh lemon juice, plus more to taste
• ½ teaspoon freshly ground black pepper, plus more to taste
• ¼ teaspoon kosher salt
• - For thinning, nonfat milk (optional)

• Heat the walnut oil in a sauté pan over medium heat. Add the shallots and garlic and cook until soft and lightly browned. Set aside.
• Puree the tofu, blue cheese, vinegar, lemon juice, pepper, salt, and shallot mixture in a blender or food processor. Thin the dressing with milk, if desired. Season with additional lemon juice and pepper to taste.

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