Wednesday, April 22, 2009

Great News for Over Expressers

No I don't mean good news for bloggers or drama queens, I mean great news for PMD kids with duplications.

Marcy and I just got back from Wilmington DE where we participated in the PMD Symposium at AI Dupont Hospital. The first day was action packed lectures given by several scientists describing their latest publications (or soon to be in some cases).

Among other things, Dr. Klaus-Armin Nave from the Max Planck Institute for Experimental Medicine in Germany presented some experiments that showed that an anti-progesterone drug can reduce the PLP expression in his transgenic mice with PLP duplications. As many of you already know, turning off the PLP gene may have a therapeutic effect since the null syndrome is not as severely debilitating as most other PMD variants. Now we just need that drug to go through the FDA approval process. Fortunately, the drug is being developed for a lucrative disease like breast cancer, so the pharmaceutical company has a real vested interest beyond just our poor over expressing friends.

Dr Skoff presented some more interesting work with the same over expressing transgenic mice from Dr. Nave. He found that a simple anti-biotic could help prevent oligos from dieing from apoptosis. This could reduce the severity of the condition and slow the degenerative process. I believe Dr. Skoff and Garbern are trying to get NIH funding to do further studies to get this closer to treating our over expressing PMD kids.

While, I'm very happy to see this tangible progress, it does not help my Jacob who has a very severe point mutation, T257C. One obvious option is to see if Dr. Nave's anti-progesterone helps mutant mice with a condition more like Jacobs such as the Jimpy. Don't worry, Marcy and I are on it like a wet rag!

Today I had an interesting conversation with a guy from the NIH Chemical Genomics Center. They have a fully robotic system designed to perform massive in-vitro drug tests quickly. For example, they would do 3000 different compounds in 15 different dosages each in a sample of 100. With controls it's pushing half a million tests that they run automatically in an afternoon! Of course you need to develop a suitable assay - or screen test - that can be automatically executed with their robotics. We first heard the shotgun approach for treatment at the previous PMD Symposium in Wilmington from Dr. Kamholz nearly SIX years ago. I can't believe we didn't do anything about it in all these years! Can Jacob ever forgive us? Well, better late than never I figure. I will follow up with this guy to see what's needed to take our shot in the dark as soon as possible.

There are a number of other interesting research efforts still worth exploring. In fact, Dr. Kamholz told us about a Canadian with some very interesting primary research with transgenic mice in search of the keys to PLP regulation. You'll have to wait for another blog for more on this.

Tuesday, April 21, 2009

Meeting Other Families

Andrew and I attended a PMD conference this past week where we had a chance to meet with some of the researchers and hear about the latest developments in the field. That's what I expected. I also expected to meet some families who have kids with PMD.

What I didn't expect was to feel so comfortable in a room with so many wheelchairs, suction machines and several kids being tube fed at any given time. Basically, we were in a room with families like ours. Many had healthy kids, in addition to the PMD ones. There was something comforting about being surrounded by this group of people.

Some kids were able to walk and speak. Most kids looked more comfortable in their wheelchairs than Jacob ever does in his. An amazing thing was that most of these kids are happy and have the same silly, mischievous sense of humor that Jacob has. There was a definite feeling of unity among these families. We share something that only we can fully understand. That part was great.

The sad part was that last time we were at this conference, shortly after Jacob was diagnosed 6 years ago, we looked around the room and thought that Jacob looked so much stronger/healthier than the kids we met. This time things were different: Jacob is older. He has a severe form of the disease. And it's degenerative, so it gets worse over time.

Looking around the room last week, I realized that most of the kids seemed healthier than Jacob. They can move their limbs more freely and are more relaxed. This is when I was forced to acknowledge that the degenerative aspect of this disease has started to affect Jacob. Despite all the therapy and movement, it is still progressing. This makes me more determined to find a treatment or push for a cure. Even a small step forward in treatment options can have a profound affect on Jacob's quality of life. But we have to hurry.