Living with Chronic Granulomatous Disease (CGD)
Easton, left, and Owen Jouppi
Twin boys Easton and Owen Jouppi were diagnosed with CGD a week before their first birthday. Here, the boys’ parents, Nicole and Mike Jouppi, discuss what it means to care for two children living with this chronic illness.
Their story, in their own words.
We had Owen and Easton on May 21, 2010 and on April 14, 2011 just a month before their first birthday, they were both diagnosed with CGD.
They weren’t meeting milestones that typical infants should meet. They weren’t gaining weight or eating food. There was a very clear failure to thrive.
Owen developed perirectal abscesses, and that’s something that males with CGD will get. Sometimes they will have cysts on their legs and arms, or have reoccurring pneumonia. About a month later, Easton began getting the abscesses too. Owen would lose weight as quickly as he gained it. Our pediatrician referred us to a gastrointestinal doctor who monitored Owen for a couple of months and after trying a few medications, the doctor ordered the CGD test.
They ordered the test on Easton as well because the two are identical, and the thought was if one of them has it, they both might. And they both did.
A few months later, the boys had eye surgery and the gastro doctor ordered an endoscopy and a colonoscopy. After that, we found out they not only had CGD, but chronic colitis as well.
If males get chronic colitis in addition to CGD, they don’t typically get it until later in life. Owen and Easton were 13 months old.
In CGD, the white blood cells don’t work properly. A white blood cell encases an infection and breaks it down, their white blood cells encase the infection, but do nothing with it. So infections get bigger and bigger. Basically, their bodies can’t fight off bacteria or fungal infections, so they can’t be in sandy environments, dirty areas, things like that. They don’t have to live in a bubble, but they need to be very careful.
Males have an XY chromosome and females have an XX chromosome. Females don’t get CGD often because they can cancel out the bad X, but because males have the XY chromosome, they are more at risk. After the boys were diagnosed, we learned that Nicole had been the carrier of the CGD, and she had gotten it from her mother. CGD is typically inherited through the mother, so it made sense.
The way we understand it, if a female has CGD, then her mom and dad both were carriers of it, but for males, only the mother has to be a carrier.
One of the things is that if you and I get sick, we show it on the outside. But if they’re sick, they look healthy as can be. Completely normal on the outside, but very sick internally.
Because the boys aren’t old enough to fully understand the disease, they have to be monitored constantly, which can make day care and play dates difficult. If a two and a half year old sees a kid playing in the sand, then they want to go play in the sand with them. Owen and Easton can’t do that.
Nicole actually ended up quitting her job so she could stay home with the boys full time. We realized it was going to be too difficult to put them in day care. There are the many safety precautions, but also several steps for the medication as well. It’s a very strict regimen.
We still hold out hope that they will be cured, but the only cure is a bone marrow transplant or stem cell, which is not highly recommended unless you become seriously ill. But we remain hopeful for the future.
But after all of this – the medications and safety concerns and so on – Owen and Easton are just two boys. Two boys who like to chase each other around, play with toy cars. They love going to the playground, but just have to be a little more careful than some of the other kids. It’s great to finally see them healthy and just acting like little boys. For such a long time it was such an uphill battle and struggle for them. And although we’re still learning about what they can and can’t do, it’s nice to see boys being boys.
Click here to learn more about CGD.
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12 Responses to Living with Chronic Granulomatous Disease (CGD)
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Our oldest son has CGD and he turned 10 in October. I just wanted to wish your adorable sons all the best – I know it can be a difficult. And also, our son since being on the meds (he was diagnosed at 2 1/2 in June 2005) he has done great, with no serious issues. A great resource: primaryimmune.org
Thank you and if your son Clayton is the young boy on YouTube we have seen your story and even others in my family have come across it to tell us that there is great hope for these boys in the future and it gives us so much to look forward too that they will one day find the cure and that they don’t have to go through the long procedure of a bone marrow or stem cell transplant. So glad to hear that he has been doing so well. We have connected with the Immune Deficiency Foundation and they are such a wonderful group too.
Hi Owen and Eastons parents.
I have a 23yr old son with CGD that was diagnosed at 10.5 months. You do have a lot of support available through many organizations and families that are there to assist you and answer questions. If you have any questions you can contact me at the e-mail listed. The boys are beautiful!!
Kathleen Narlock
Your story sounds familiar. My son has CGD. He was diagnosed at 18 months. He is also a twin and my wife also stayed home to give that extra level of protection.
He is nine now and is doing well. We are in the process of deciding if a BMT is right for him. I know what you will go through as your boys start school, fuss over taking medications and start venturing beyond your watchful eyes. I wish you well and it sounds like you are both caring parents.
i have a 15 year old son Marshal…he’s doing great…just a quick question…we live in Ontario and
i was wondering if anyone was able to claim CGD as a disability…
Thank you for taking the time to comment on our website, Christine. We only assist patients in the United States. Check out the following website for more information about CGD: http://www.cgdassociation.org
Take care,
CVC
Is there a hospital that specializes in pediatric cgd? I would like to take my friends child who was just diagnosed in israel with it. They would bring him to the states
can you suggest any doctors in ny area or anywhere??
thank you
Dana, we encourage you to check out the Chronic Granulomatous Disease Association website for more information. http://www.cgdassociation.org/
My son was diagnosed at 12 months and I was told he was not coming out of the hospital alive. He is now 35 and the father of 2 healthy children. He was and still is an avid athlete. You can write me any time.
I am currently very ill right now and I’ve been having several test done lately. I’m a 36 year old female and found out yesterday that I have CGD. I’m a police officer and my job requires me to go into different and hazardous environments. I’m trying to find out information that will assist me in understanding just how bad a risk my job is now that we know what’s wrong. Waiting to see a specialist yo start treatment as well.
Hello I’m Kyle. I am 24 and was diagnosed with CGD when I was about a year old. I had such bad pneumonia I had to have part of my lung removed as a baby. I just want to say that even though your boys will have to take more precaution tell then to still have fun and follow their dreams. Don’t let a condition they can’t help bring them down. Three years ago I was also diagnosed with granulomatous colitis and am on the list to find a bone marrow donor and will have surgery to remove part of my colon. I hope this will get me back to being healthy. I wish them well and hope soon there is something less life threatening to cure this disease.
Hello, last year my (then) 4-year old got a terrible chronic colitis. Because i have the same disease it didn’t occure to me that it could something else. The colon is removed and in the proces cgd was diagnosed. Now he’s doing just fine and we are preparing to remove his stoma (don’t know the english word?)
We live in The Netherlands and there are only a few people withe cgd. I’m really excited to real the positieve stories.
Goodluck to you and your boys!
Diane