savingcase

1. I found out he had Hunter Syndrome because my mom happened to see an episode of the show Mystery Diagnosis about a boy with Hunter Syndrome. Totally miraculous. She's an RN so she realized by the end of the show that he probably had this horrible disease and had to tell me. His symptoms were so mild at the time that they wouldn't have been caught for at least a year or two, if that.
2. He goes to school pretty much like a typical kiddo and is in special education and inclusion classes. He loves school. I work with him on reading and skills after school. We do infusion once a week, usually on Sunday nights, and that lasts about 4 hours. And we have lots of doctor trips and visits for the clinical trial each month.
3. He is on the clinical trial drug (which is a spinal infusion given in the hospital each month) for free until it gets FDA approved. Then hopefully that happens and insurance will pay for it. But that's a whole new issue.

We faced this issue more early on, when the signs and symptoms were not as obvious, as seems to be your case as well. I always tried to be prepared beforehand with what I knew I wanted and why, point by point. And then always having validation, whether it was someone that went with me to IEP meetings that was knowledgeable about my son's needs and the disease, or letters from relevant doctors about exactly what his needs were (in our case, geneticists and neuropsychologists), even if I had to draft those letters and submit them to the doctors for them to revise or just adopt, and literature. Being a lawyer always helped too, but in reality, having that "advocate" to back you up and validate what you're saying is always important.

1. We've always explained his condition on an age appropriate level. Our older boys are now pre-teens and have met many other children with his same condition, in various stages of the disease, and some receiving the experimental medicine and some not. Many times, he's still just the annoying little brother, which I consider a fantastic thing, but they are now realizing that his special needs are often things he can't control and that he could be doing much, much worse. It is a fine line. They have spoken maturely in recent months about appreciating how well he's doing and wishing other boys could receive the same medication and hopefully live.
2. The medication is covered by insurance except for our deductible and co-insurance. Some of that is covered by co-pay assistance programs by the pharmaceutical company. Patients and families who take these high dollar medications feel very conflicted about something that is saving the lives of people they know and love, but is so expensive. I wrote about this conflict and other thoughts in a blog post titled 6 Thoughts on Having a Six Million Dollar Son.

There were traditionally considered to be two "types" of Hunter Syndrome - severe and attenuated, the difference being whether the brain was affected. In severe Hunter Syndrome, like my son has, they generally do not live into adulthood. They experience progressive brain damage and live usually into early teens. The clinical trial drug he is on is an attempt to stabilize that brain decline.

For those with attenuated Hunter Syndrome, they can still have severe physical effects like very short stature, airway and lung restrictions, heart valve damage, carpal tunnel syndrome, joint stiffness and pain. If they get in enzyme replacement therapy (the weekly infusion of Elaprase) while young, a good portion of these effects are slowed or stopped. Since the drug has only been approved since 2006, it's still early to see how a child who starts young will develop into adulthood. Good questions.

Prior to the clinical trial, I didn't really have to - he wasn't at a cognitive level where he could even understand. We did have to manage his medical trauma in unique ways in order to make procedures, infusions, etc. even possible. I did a ton of research and ended up writing an e-book from what I'd learned called Calmer: Medical Events with Cognitively Impaired Children because so many people were asking me about it.

Now that he appears to be cognitively stable as a result of the clinical trial, it's actually gotten more difficult. He often doesn't want to do the medical stuff and asks why, but he can't really understand that he has a disease and that if we don't do all of this, he will deteriorate and die.

It's hard. I sometimes I harken it to the book Flowers for Algernon or the movie Awakenings. I can only hope and pray that the drug won't stop working.

As far as support groups, he loves playing with other boys with Hunter Syndrome - they seem to "get" one another, but we only see each other at some clinical trial visits and conferences. They don't really understand that they have this disease though.