Tag Archives: Infantile Spasms

Helpful Resources

Posted on July 22, 2014 by CVCinfo

Partnerships

• LegalShield

Caring Voice Coalition has partnered with LegalShield to offer CVC patients discounted legal plan membership. For a small, flat monthly fee, CVC patients can become LegalShield members, with access to services including unlimited legal advice on any topic, living wills, estate planning, health care proxies, insurance coverage, and identity theft protection. With LegalShield, CVC patients have access to caring, top-quality attorneys from highly-rated law firms across the country at very low cost.

• NeedyMeds Drug Discount Card

NeedyMeds, founded in 1997, is a non-profit information resource devoted to helping people in need find assistance programs to help them afford their medications and costs related to health care.

Patient Associations

• Alpha-1 Foundation
• Chronic Granulomatous Disease
• Complex Partial Seizures
• Cutaneous Lymphoma
• Factor XIII
• Gaucher’s Disease
• Huntington’s Disease
• Idiopathic Pulmonary Fibrosis
• Infantile Spasms
• Lennox-Gastaut
• Myositis
• Narcolepsy
• Nephrotic Syndrome
• Orthostatic Hypotension
• Pulmonary Hypertension
• Sarcoidosis
• Steven-Johnson Syndrome
• Thalassemia Syndromes

Copayment Assistance Organizations

• The Assistance Fund
• CancerCare
• HealthWell
• Leukemia and Lymphoma Society
• NORD
• Patient Access Network Foundation
• Patient Advocate Foundation
• Patient Services, Inc.

Government Agencies and Programs

• BenefitsCheckUp
• Medicaid
• Medicare
• National Institutes of Health (NIH)
• Social Security Administration

Transplant Information

• United Network for Organ Sharing (UNOS)
• National Foundation for Transplants

Posted in How We Help | Tagged Alpha-1 Foundation, BenefitsCheckUp, CancerCare, Chronic Granulomatous Disease, complex partial seizures, Cutaneous Lymphoma, factor XIII, Gaucher’s Disease, HealthWell, Huntington's Disease, idiopathic pulmonary fibrosis, Infantile Spasms, Lennox-Gastaut, Leukemia and Lymphoma Society, Medicaid, Medicare, narcolepsy, National Foundation for Transplants, National Institutes of Health (NIH), NORD, Patient Access Network Foundation, Patient Advocate Foundation, Patient Services Inc, Pulmonary Hypertension, Social Security Administration, Thalassemia Syndromes, The Assistance Fund, United Network for Organ Sharing, UNOS | Leave a comment

Video Testimonials

Posted on June 9, 2014 by CVCinfo

David Haygood, a patient with Alpha-1 Antitrypsin Deficiency tells about his experience with Caring Voice Coalition.

Cheryl Staveley, parent and caregiver of Meghan Sullivan, a Huntington’s Disease patient, tells her story.

Kindra Cansler, caretaker for her son Justin, an Infantile Spasms patient, tells her story.

Joyce Scannell, a Narcolepsy patient, tells her story.

Beverly McGregor, a Pulmonary Hypertension patient, tells her story.

Posted in Media Center | Tagged alpha 1 antitrypsin deficiency, HD, Huntington's Disease, Infantile Spasms, narcolepsy, PH, Pulmonary Hypertension | Leave a comment

Supported Diseases

Posted on June 9, 2014 by CVCinfo

CVC Disease Funds

Alpha-1 Antitrypsin Deficiency
Chronic Granulomatous Disease
Complex Partial Seizures
Cutaneous Lymphoma
Factor XIII Deficiency
Gaucher’s Disease
Huntington’s Disease
Idiopathic Pulmonary Fibrosis
Infantile Spasms
Inflammatory Eye Disease
Lennox-Gastaut Syndrome
Myositis
Narcolepsy
Nephrotic Syndrome
Orthostatic Hypotension
Pulmonary Hypertension
Sarcoidosis
Severe Chronic Pain
Steven-Johnson Syndrome
Thalassemia Syndromes

• Click here to view a list of Helpful Resources

Posted in Supported Diseases | Tagged alpha 1 antitrypsin deficiency, Chronic Granulomatous Disease, complex partial seizures, Cutaneous Lymphoma, Factor XIII Deficiency, Gaucher’s Disease, Huntington's Disease, idiopathic pulmonary fibrosis, Infantile Spasms, Inflammatory Eye Disease, Lennox-Gastaut Syndrome, Myositis, narcolepsy, Nephrotic Syndrome, Orthostatic Hypotension, Pulmonary Hypertension, Sarcoidosis, Severe Chronic Pain, Steven-Johnson Syndrome, Thalassemia Syndromes | Leave a comment

In Your Words: Carrie Beth and Asher

Posted on May 28, 2014 by Charlie

Carrie Beth Pretto’s son Asher’s infantile spasms (IS) were diagnosed two years ago. A year after brain surgery, multiple medications and doctors’ visits, he is now seizure-free. Pretto describes the challenges they’ve overcome, and still face, and offers advice on finding support, treatment, and resources for IS.

Asher was diagnosed with infantile spasms on November 11, 2011. He was six months old.

A week prior to his diagnosis, Asher began having unusual eye patterns and jerking body movements. He would lean forward and then throw his head back and arms out wide.

As we began to notice this wasn’t just a one-time occurrence, we became concerned. Over a week’s time, the jerking motions and eye rolling developed into clusters, occurring more often throughout the day.

I made a call to our pediatrician, who immediately ordered us to have an EEG performed. While there, I overheard nurses comment, “This is classic IS,” not knowing the least bit about what they were referring to.

Within hours, we were sent to a local pediatric neurologist. I can still see the look on the doctor’s face when she walked into the room. It was not your usual first greeting from your doctor. Her face was filled with sadness and disappointment.

After examining Asher and reviewing the EEG, she diagnosed him with infantile spasms. The doctor stressed the need for starting treatment immediately to prevent prolonged damage to Asher’s brain and the associated developmental delays.

Although we knew nothing about IS, we could sense this was a serious matter and obediently agreed to any recommended treatment. The first step was to stop the spasms, and then continue trying to diagnose the cause of the spasms via MRI and other methods.

We were told the best case was that nothing abnormal would be found, and in that case, he’d likely grow out of the IS. The neurologist kept commenting that she hoped it wasn’t tuberous sclerosis complex (TSC). Again, something we had never heard of before.

The doctor prescribed a very expensive medication that was made-to-order out of Chicago and wouldn’t be released to us until a nonprofit organization agreed to assist with the co-pay. Within three days, we received the medication and began administering it via injections twice a day for 60 days. A nurse administered the first injection, but I was left to provide the injections from then on in his poor little thighs.

Again, step two was to determine what was causing the IS, so throughout his period of treatments, Asher underwent numerous tests such as MRI, ultrasounds, cardiology exams, blood work—it seemed endless. During this time, our poor son ballooned from the steroids, going from 15 to 20 pounds in only seven weeks.

The medication stopped the IS within three days of the first injection, but while weaning him off the treatment in the final weeks, we observed a different type of seizure develop, one in which he lost emotion while looking up and away. The neurologist prescribed new medications in various combinations and doses to stop the seizures, each unsuccessful.

Approximately two months after Asher was first diagnosed with IS, the neurologist delivered a diagnosis of tuberous sclerosis complex, based on the findings on the MRI. Tuberous sclerosis complex (TSC) is a genetic disorder in which the DNA lacks either one or both of the genes that suppress tumor growth in many of the major organs.

Currently Asher is only showing the TS characteristics of tumor growth on his skin and brain, which account for his uncontrolled epilepsy and developmental delay.

From this point, we were referred to the TSC clinic at UT Medical Center in Houston, Texas, for further treatment. There, we met with multiple neurologists and a geneticist, who prescribed another round of medications to control the seizures.

Finally, on November 5, 2012, Asher underwent an occipital resection on the left hemisphere of his brain to remove the largest tuber, [occupying] roughly 10 percent of his brain, that was causing his epilepsy.

With our weekly schedule of occupational, speech, physical and autism therapy, Asher is thriving, despite the setbacks that we have faced over the past two years.

After two years of multiple medications and doctors’ visits, Asher has now been seizure-free since his brain surgery just over a year ago. It is such a blessing that we can now say our little guy, at the age of two and a half, is actively catching up and accomplishing new milestones everyday.

Asher is a busy little guy. When not at therapy, some of the things he enjoys are swinging, going for wagon rides, running outside, doing puzzles, listening to sing-a-long songs, anything to do with shapes, playing peek-a-boo, coloring, jumping on the bed, and airplane on daddy’s feet, and he loves tubby time (bath time).

Some of the biggest challenges have been his lack of and delays in ability to communicate and show emotions and expressions of love, public outings, such as shopping and restaurants, tending to another child while home, what kind of care to give him and how to get it, as well as therapy, treatment plans for long-term care, limited medical coverage for behavioral therapy, rareness of the disorder and limitations of knowledgeable staff close to home.

For the parents of those who are newly diagnosed, it’s important to educate yourself quickly through only credible resources—the internet can be very misleading—and to find a neurologist who is knowledgeable in diagnosing and treating IS. Technology is also very important—they must have the right and most up-to-date tools.

Be prepared to make difficult decisions, whether it is in regards to medications and their harmful side effects, or the onset of developmental delays. Nonprofit companies are available to help you when in need. Support groups are out there … you are not alone.

Posted in About Us, Diseases, Featured | Tagged Asher Pretto, brain surgery, cardiology, Carrie Beth Pretto, EEG, Infantile Spasms, mri, neurology, occipital resection, seizure, seizure free, seizures, steroids, tsc, tuberous sclerosis, ultrasounds | Leave a comment

We Can Be Heroes: Nicole Murray

Posted on April 28, 2014 by Charlie

Nicole Murray talks to Community about pairing her love of running with raising awareness and funding for her son Ronan’s infantile spasms (IS) and offers advice for parents of children who’ve been recently diagnosed with IS. Murray ran in the 2013 Philadelphia Marathon as an Epilepsy Foundation Athlete vs. Epilepsy.

Ronan was officially diagnosed in late April 2012, at four months old, via video EEG, though he was having clinical spasms in March. It took nearly five weeks for his clinical spasms to evolve to infantile spasms and hypsarrhythmia on the EEG.

The moment he started having them, I knew they were IS. I had read about IS when I joined an epilepsy parent support group and had seen videos of children having IS, so I knew. It’s very different than other seizure types; they don’t look all that terrible, but they are incredibly catastrophic.

I’ve always been a runner. It has always been a great stress reliever for me. I knew that I could pair my love of running with raising awareness for Ronan’s condition, and that’s why I chose to run for the Epilepsy Foundation.

Ronan is defying the odds and breaking the rules. At ten and a half months old, he was not sitting, not babbling, and not self-feeding. He was having anywhere from five to 50 seizures daily. Since the morning of October 23, he has not had one seizure!

He had surgery three months ago, and he’s sitting unassisted, babbling, self-feeding, plus, starting to really bear weight on his legs. His development has taken off, and he’s so happy and alert, despite still being on two seizure meds.

The surgery did leave him with deficits, some of which will be permanent. Some of which, we’ll hope to overcome with intensive therapy.

He does have significant weakness/unawareness on his right side, as his entire left-brain hemisphere is now disconnected/removed, but he’s showing steady progress with arm recovery. His leg has recovered very well. He will have a permanent visual field cut. The right visual field of both eyes will never return.

Right now, we are working hard with seven-plus therapy appointments per week, and celebrating in each and every inch and milestone he’s making.

I’m now back to work, and his therapy schedule (and our other son) keep us very, very busy. I try to get out [to run] at least three, ideally four times a week.

Running helps me feel strong, both physically and mentally. I also never take for granted that I have the physical abilities to run, as I’ve met many children now who cannot.

I don’t know [what marathons I’m running next]! I think I’ll probably be more inclined to sign up for a half marathon first. Training for a full marathon is a serious time commitment. Perhaps Philly again.

Regrettably, I have not been involved with the Epilepsy Foundation beyond raising money via the marathon. Eventually, I’ll become more involved, but right now, Ronan’s therapy and needs are intense. I am involved with several online support groups for infantile spasms and polymicrogyria, and the Hemispherectomy Foundation, among others.

You can follow Ronan’s journey and progress here: https://www.facebook.com/RonanRobertsFanClub

Posted in About Us, Diseases, Featured | Tagged athlete vs epilepsy, athletes vs epilepsy, brain surgery, Caring Voice Community, childhood illness, clinical spasms, Community magazine, EEG, Epilepsy, Epilepsy Foundation, hypsarrhythmia, Infantile Spasms, nicole murray, ronan murray, ronan roberts, ronan roberts fan club, seizure, seizures, spasms | Leave a comment

In Your Words: Adrienne Altamirano

Posted on March 12, 2014 by Charlie

Adrienne Altamirano describes her young son Noah’s struggles with the infantile spasms that resulted from his tuberous sclerosis.

When we first had Noah, he seemed to always be crying, but it was not a typical newborn cry. He hardly slept. When he was about four months old, he started having these jerking movements. He didn’t do it very often. But the more it happened, the more he would cry. And I thought, ‘This is not right.’

The pediatrician said that maybe he was reacting to really bad heartburn or acid reflux. I had made an appointment with a dermatologist because he also had white, ashy spots on his skin. The dermatologist looked at him, and she looked at me and asked if he had had any weird movements lately. I said that he had. She wanted to get him to neurology, and the neurologist admitted him right away.

They said that Noah could possibly have tuberous sclerosis complex—a genetic disorder that causes benign tumors to grow in the brain and other organs. They wanted to do an EEG of his brain, and an ultrasound of his kidneys.

My husband is a petty officer in the Navy, and at that time he was away. As a military wife, I have to go with the flow. I have two older sons; Moises, who is seven and Aaron, who is 12, and it was very overwhelming.

The test results showed that Noah had tuberous sclerosis, and epilepsy with infantile spasms. He was four months old when the spasms started and seven months old when they diagnosed them.

They put him on medication, and within a day his spasms stopped. He still cries a lot. Naptime is very precious. I try to comfort him, and often that doesn’t work. Sometimes he just has to work it out and cry until he falls asleep.

He has SEGA tumors in a very dangerous position in his brain near his nerve endings.
SEGA tumors are not cancerous or malignant, but can still cause problems. We’re keeping an eye on those. He also has tumors in his kidneys. We’re working on that with the renal doctors. He is beginning to show early signs of autism.

The spasms delayed his development. He didn’t roll over until he was about eight months old. He didn’t start crawling until he was ten months old. He recently started pulling himself up in the crib and standing up at 12 months.

He’s 14-months-old now and still not walking. A week ago, he said ‘Mama’ and ‘Dada’ at the same time. Those were his first words. He has trouble feeding and swallowing.

He can’t have that much table food.
I have to make it small enough for
him to swallow, but he doesn’t want baby food.

 

I’ve been very fortunate to be able to stay at home and work with him and help him.

We have good days and bad days.

On bad days, he has this horrible, heartbreaking cry. He throws himself around.
Sometimes he hits at his head and pulls his hair. It’s hard to figure out where the pain is coming from. We give him different medications for it. He’s been exposed to so much already.  He doesn’t sleep when he has bad days, maybe for 15 minutes.

He’s my baby. To hear him scream and cry is very difficult. I cry when he cries. But I never let go of my faith that we’re going to get through this.

We have great days. When I clean the house, I put on music. He laughs, plays, jumps, and dances in the jumper. He can’t stand by himself yet. He’s still wobbly, but he’s getting there.

Noah loves to be outside, on the beach and the pier, to go for walks in his stroller, to look up at the sky, and go on the swings in the park. He loves Disneyland—the fireworks, the rides, and the characters. By the end of the night, he’s exhausted.

He also loves to wrestle with his stuffed animals in his playpen. I can hear him rolling around, growling at them.

Aaron and Moises are the greatest brothers in the world. To them, there’s nothing wrong with Noah. He loves to play on them and jump on them when they’re on the floor.

He’s been seizure-free for seven months. He started holding his bottle and sippy cup by himself. He’s not a small kid, so it was hard for me to hold him, and the bottle, and the cup. It was a huge step for him, holding them. It was very exciting to see.

I’m a member of the Tuberous Sclerosis Alliance. We have events in Southern California, where we get the parents and children together. I have made so many friends with this alliance. We can call on each other. We call each other ‘the TSC Family.’

Noah will always have tuberous sclerosis. He will always be seizure-prone. We will always have to check that the tumors are not growing, causing pressure to build up in his brain.

A lot of children with tuberous sclerosis are on different points on the autism spectrum. It’s possible that the behavioral issues and autism won’t happen, but seizures
and tumors will always be a part of our lives.

Fortunately, there are military programs for family members with disabilities. Someone will be coming once a week to help him meet certain milestones. He will have a physical therapist, an occupational therapist, and a behavioral therapist, and he’ll attend a special school.

 

My mother has been a big help and a big support for me. When I need her, she’s there. Aaron, my oldest son, can hold Noah and get him into the high chair. He has taken on the role of the big brother so amazingly. I don’t even have to ask him to do something.
He just automatically does it.

Don’t get me wrong—I cry every single day—but I do what I have to, because this is my son. At first, I thought, ‘It’s not fair,’ but then I accepted it. We’re just going to move forward and keep on going. I take care of him, cherish him, and love every single moment. We don’t know what the future holds, but we’ll get through it with a lot of love and a lot of care.

If you have a story that you’d like to share with CVC, email us at http://www.caringvoicecoalition.org/2013/05/share-your-story-2/. Your words can give support to others and let them know that they’re not alone.

Posted in About Us, Diseases, Featured, Uncategorized | Tagged Adrienne Altamirano, child neurology foundation, citizens united for research in epilepsy, CURE epilepsy, CUREepilepsy, Epilepsy, epileptic, genetic disorder, in their words, in your words, infantile spasm, Infantile Spasms, neurology, Noah Altamirano, SEGA tumor, seizure, seizures, tuberous sclerosis, tuberous sclerosis alliance | Leave a comment

Donate Now

Posted on August 20, 2013 by CVCinfo

Give Financially

Caring Voice Coalition has established a safe, secure way for you to make an on-line donation. By donating to Caring Voice Coalition, you are making a difference in the life of a patient. Caring Voice Coalition and our donors have a common goal – to help as many patients as possible. The Caring Voice Coalition is a qualified 501(c)(3) tax-exempt organization and donations are tax-deductible to the full extent of the law. Our Federal EIN is 26-0058446.

Please fill out this form and click submit to be taken to our secure payment feature where you’ll be able to make a donation with a debit or credit card.

If you prefer to send your donation by mail, please send your check made payable to Caring Voice Coalition to:

Caring Voice Coalition
8249 Meadowbridge Road
Mechanicsville, VA 23116

Posted in Get Involved | Tagged alpha 1 antitrypsin deficiency, Caring Voice, Caring Voice Coalition, caring voices, Chronic Granulomatous Disease, CVC, donate, donation, factor XIII, financial, Huntington's Disease, Infantile Spasms, narcolepsy, Pulmonary Hypertension, tax deductible, tax exempt | Leave a comment

Seeking Support

Posted on November 28, 2012 by CVCinfo

Whether you’re newly diagnosed with a condition, or have been living with it for years, getting the support you need is crucial to maintaining your best healthy life, both physically and mentally.  There are tons of ways to participate in support groups, whether it be through an actual physical get-together, online meetings, or even actively participating in message boards.

The benefits of support groups are obvious – being in an environment in which other people understand you and can share helpful advice and motivation is always going to be an aid, however it’s important to see how this engagement can benefit your personal relationships.  It can be truly difficult for someone to give the support they want to a person with a chronic illness, because they don’t truly understand or know what to say.  And it can be equally hard for the person affected to really share in words what is going on in their minds and with their bodies.  Going to an outside source of support can create a better bond between the caregiver and the person who is ill.

Often times, people are hesitant to go to support groups because they feel what they are going through is too personal or intimate to share with a room full of strangers.  So, if you’re feeling hesitant, think about the benefits of just going and listening.  It can be more beneficial than you may believe to just be silent for an hour and soak up what others are saying.  And if going to a support session seems like you are relinquishing some of your independence, just remember that everyone needs a helping hand sometimes, just don’t be afraid to take it.

Below are some great resources for support groups from some of our friends in the rare and chronic disease community.  Also, don’t hesitate to ask your doctor or medical professional where to look.

Pulmonary Hypertension Association
Pulmonary Hypertension Central
MD Junction Pulmonary Hypertension Online Support Group
Daily Strength Pulmonary Hypertension Online Support Group
Pulmonary Hypertension South Africa

Pulmonary Fibrosis Foundation
Daily Strength Pulmonary Fibrosis Support 
Coalition for Pulmonary Fibrosis
MD Junction Pulmonary Fibrosis Online Support Group

Narcolepsy Network
Daily Strength Narcolepsy Online Support Groups
Narcolepsy Online Support Groups

Huntington’s Disease Society of America
Daily Strength Huntington’s Disease Online Support Groups
Huntington’s Disease Lighthouse Families Online Support Groups
Huntington’s Disease Advocacy Center Message Boards 
Huntington’s Disease Youth Organization 

Infantile Spasms Center
The Infantile Spasms Community Board

Alpha-1 Association
Daily Strength Alpha-1 Online Support Groups

Are there support groups which you have found helpful?  Please share with us!

Posted in Caregivers, Diseases, Featured, Media Center, Uncategorized | Tagged chronic illness, Infantile Spasms, narcolepsy, Pulmonary Fibrosis, Pulmonary Hypertension, Support, Support Groups | 3 Comments

What’s Your Story?

Posted on February 7, 2012 by CVCinfo

We’ve been thrilled with the reaction to our website, and we really enjoy sharing with our many fans on Facebook.   We get to share with you tips for healthy living, breaking news about medical research, and stories of hope and courage.

It is the stories of the people that we’ve helped that have inspired us the most.

We shared the story of Justin, and how his mother has struggled to raise him.  Kindra is like many other moms, married and raising children, but her story has a twist:  In addition to school, groceries, and family, she seeks answers for dealing with Justin’s pachygyria and infantile spasms.  Her story touched us, and led us to the story of Marissa and her father’s chronicle of her life.

We got to tell you about Meghan.  She was 2 when her father was diagnosed with Huntington’s disease.  As she started college and began to plan her own adult life, she also received a diagnosis of the disease.  Her father’s illness gave her a 50/50 chance of having it herself, and the coin flipped against her.  Meghan didn’t give up, though.  She graduated college and is sharing her story on YouTube and is hosting a concert to spread awareness of her disease.

Roberta has a story like many of the people that we talk to.  She went through months of illness, testing, misdiagnosis, and was finally told that she had Pulmonary Fibrosis.  After reaching several roadblocks in her journey to treatment, she made a right turn and found us on her road.  She still has many hills to cross, but breathes easier knowing that she has an advocate in Caring Voice Coalition.

Matthew went from an active lifestyle to one of uncertainty after a diagnosis of Alpha 1.  Many people commented on his story.  They shared with us their own tales of fear and uncertainty, and of the struggles that they had endured in a quest for treatment.  Matthew’s stories put us back in touch with Steven, whose mother died of Alpha 1.  We became involved with Steven after his own diagnosis, and it was wonderful to help him, to know that he was hanging in there, and we were honored to make a small dent in his life.

Sometimes it’s hard to convey the message in some of our stories.  How does one express a lifetime of chaos, doubt, and failure?  Joyce experienced all of these things in her journey through Narcolepsy.  The comments to our telling of Joyce’s story conveyed the message:  You’re not alone, you’re not crazy, and your perseverance is an inspiration.

We often receive notes and messages from the people that we help that thank us for what we do.  We’re referred to as “angels”, “lifesavers”, and “heroes”.  That is all very flattering but we sometimes come across someone who puts everything into perspective for us.  Such is the case with Dennis.

Dennis is a bona-fide New York City Detective with over 20 years of experience on the beat.  He went from a street cop to an undercover officer, and then received his Detective’s shield.  He was in Manhattan on September 11, 2001 and spent several grueling months at Ground Zero as he and his comrades combed the wreckage for remains.  He was then diagnosed with Pulmonary Hypertension.

Dennis’s story brought comments, encouragement (and some flirting!), from friends, PH sufferers, and cops with PH.  People heard his story of courage from just across town in Long Island, from all over America, and from as far away as Scotland.

We wonder how many others there are out there like Dennis, Joyce, Matthew, Roberta, Meghan, and Justin?  We’re sure that there are millions of you.  And we plan on continuing to provide a voice for you.  If you’re someone who is currently working with us, or someone who stumbled across our site, we’d love to hear from you.  Contact us and let us share your story.

We empower patients who live with life threatening chronic diseases.  The people in the stories that we’ve shared are the heroes.

Posted in Diseases, Featured, Uncategorized | Tagged Alpha 1, Contact Us, Huntington's, Infantile Spasms, narcolepsy, PF, PH | Leave a comment

When the Spirit Catches You: A Child with Infantile Spasms

Posted on February 1, 2012 by CVCinfo

The first thing that Kindra noticed was that she wasn’t gaining weight.  A visit to her doctor confirmed her suspicion.  She was definitely heavier at this point during her first pregnancy.  A look at the baby boy growing inside of her showed him to be very small for 30 weeks.

Kindra was able to carry her baby, and her family was overjoyed when she gave birth to a son, a brother, and a handful.  They named him Justin.

Justin seemed fine.  He was a little smaller than the other babies, but everything seemed normal.  His parents grew concerned when he didn’t put on weight, and another visit to the doctor brought a diagnosis of pachygyria.  It is a rare malformation of the brain that caused Justin to have seizures across one side of his body.  Justin’s family watched as he began to experience infantile spasms.

What must it be like to see your child experience this?

A child with infantile spasms will have delays in their development.  When other children crawl, yours may not.  When other children babble, yours may stay mute.  When other children begin to walk, yours may be like Justin; he requires a very special wheelchair.

Imagine life for Justin.

We came across a blog a few weeks ago that is written by a father whose daughter is very much like Justin.  He has spent the past four years documenting the painful cycle of diagnosis, treatment, therapy, hope, and very often failure.  Marissa’s Bunny is often an outlet for Marissa’s father, but is brutally honest about the challenges that Marissa and her family face.

It can be hard to imagine what is going on for children like Justin and Marissa.  While they do have a form of epilepsy, they are still children.  Some have compared seizures and spasms as being paralyzed but moving.  The activity of the brain during an event has been described as a circuit breaker tripping during an intense storm.

A few folks have had an interesting take on that brain activity.  The American Epilepsy Society has a lecture series about research and dealing with epilepsy.  At their December meeting they unveiled a piece by the Relanche Ensemble.   In a work entitled When the Spirit Catches You, they put a seizure to music.  A young composer, Cynthia Folio, who has a daughter with epilepsy, wrote the piece.

At the University of Kansas, three professors also used music to help people “experience” these episodes.  Two of the professors work in music theory and composition, and the third is a professor of neurology.  They used a piece by Mozart that is then “deconstructed” to demonstrate the random firing of neurons.  The resulting “concerto” was performed by the KU orchestra and illustrates the dynamics of a seizure.  It became the soundtrack for their film, It is Epilepsy-The Challenges and Promises of Automated Seizure Control.

Having epilepsy, and especially a form like infantile spasms, is most certainly a challenge. For many, hope comes in rare spurts.  Perhaps works like these can help us to better understand what living with infantile spasms is like, and perhaps an understanding will lead to breakthroughs in learning.  Perhaps children like Justin and Marissa will have hope for a cure in their future.

Posted in Diseases, Featured, Uncategorized | Tagged Epilepsy, Infantile Spasms | 1 Comment