Monday, March 19, 2007

The best smile you've ever seen!

When Jacob laughs, those around him can't help but laugh too.

Last week, when I came to school to pick him up, one of his teachers came running over to tell me that he said "Evey" as clear as a bell. Evey is a five year old girl who was Jacob's first friend. Apparently Evey was asking him to say her name, even helping him close his lips with her hand like she sees the Speech Therapists do. And he said it. The next day, with some prodding from one of his teachers, he said her name, "Ahuva", also very clearly.

When I hear and see things like that, it reinforces to me how much is going on inside Jacob's head. There are so many things he wants to say and do but has difficulty with the execution. That's why we are trying so hard to find something, some way, to help him express himself, to move and to play the way he wants to, not the way we think he wants.

It's hard to believe that after we've come so far, our biggest hurdle is doctors who are too afraid to help us, too afraid to learn about PMD and not even willing to explore the potential treatment we have waiting for him. We don't expect anyone to be comfortable with trying an experimental drug on a four year old child. In fact, we shouldn't feel comfortable about any child with such a debilitating disease. We're not comfortable at all. But we've done our homework, we are not being reckless. We are more afraid of not doing anything and letting this awful disease progress down its natural course than we are of trying to help our son. Our son, the one with the best laugh you've ever heard and the biggest smile you've ever seen.

Just When You Think We're Getting Close

Today was another difficult day. Today we found out that Jacob's EEG showed "
epileptiform activity". Not good.

Why did Jacob even have this EEG you ask? That's potentially even more distressing than the finding itself. You see we've been looking for local Canadian doctors to help us put together a protocol to try out this experimental drug on Jacob. One of the local docs asked that we first get a baseline EEG before we meet. We never thought anything bad would show up.

Jacob may be experiencing small seizures which could potentially have a significant impact on his cognitive development. This will also make it harder to get a local doctor to risk helping Jacob with the experimental treatment for fear of triggering amplifying seizures. While there is absolutely no indication that this drug causes seizures, other more widely known drugs such as 4AP, are known to cause seizures.

Obviously, we're very concerned about Jacob especially because he's been having a very difficult time lately. Something has been bothering him for the past two months or so. We're not quite sure what it is, but it seems like he's in pain or uncomfortable. We were even wondering if he's experiencing something called "startle seizures". Perhaps this is what's been making the past couple months so difficult.

We're not going to give up. If we need to treat Jacob with anti-seizure medication, then we'll do it. In fact, there is a theoretical possibility that some anti-seizure meds may help protect the oligodendrocytes from apoptosis which may reduce the severity of Jacob's disease and its progression. There's still so much to do to help Jacob....

Sunday, March 11, 2007

After The Rush

Well, it's a bit more than a week after Nightline aired our story. Jacob is doing much better now that his two ear infections have cleared up. In the past week we've had thousands of hits on our website and many, many very encouraging messages, emails etc. A number of people generously donated to the PMD fund at Jacob's Ladder. Marcy and I have been trying to thank each and every one of you. Thank you for your support and generosity. We will let you know how things proceed with journey to help Jacob and others like him.

In the next couple weeks we hope to get more results from the drug testing. In parallel, we've been trying to find a local doctor that would help go through the process to get compassionate access to the experimental drug. This appears to be another challenging hurdle. Any and all suggestions are welcome! We'll let you know how this progresses.

Jake's Dad