Sunday, March 22, 2009

Proud Sponsors of the PMD Symposium April 17/18 2009

The PMD fund of Jacob's Ladder is proud to sponsor the

Pelizaeus-Merzbacher Disease Symposium

A world where there is no PMD: How to get there through Research

Friday and Saturday, April 17-18, 2009 -- Alfred I duPont Hospital for Children Wilmington, DE

Marcy and I are happy to sponsor the second PMD Symposium mid next month. Of course we will be attending as we did five years ago when we first learned of the horrible disease that plagues our Jacob. We met so many valuable US based medical researchers who have helped us with our ongoing research efforts to find a treatment for Jacob and other boys like him.

While our first two experimental investments have not yet produced treatments, we believe we're getting closer and closer. In fact, we're already in negotiations for our next investment with a speaker who will present some recent work at the symposium next month. Expect to hear more about this soon. We are very excited about the potential for near term treatment opportunities with this next round of experimentation. Some experimentation using off-lable medication with animal models with PLP duplications has already successfully shown down regulation of PLP expression along with verifiable and quantifiable clinical improvements. We hope to show that similar benefits can be had with severe point mutations like Jacob's.

This is extremely exciting and we can barely contain ourselves. But as you probably know, medical research is both extremely expensive and unbelievably time consuming. Your donations are greatly appreciated and going directly to fund very important research that could help Jacob and other PMD kids like him very soon. We'll keep you posted.

Tross out

Monday, March 2, 2009

Sheltered from my son, by Marcy White

We're very proud of Marcy for getting the following article published in today's Globe and Mail, Sheltered from my son, by Marcy White March 2, 2009

Sunday, March 1, 2009

It's official. They are seizures.

I can't say it came as a surprise, it's something we've been wondering about for a long time. We even have the prescription for the medication all ready to go, but we were holding off, waiting for confirmation. It came. Today. Jacob has been having seizures.
They aren't the typical thrashing-around-just-like-in-the-movies kind of seizure. Nothing with Jacob is 'typical'. They mostly happen at night, as he's falling asleep and while he is asleep. It looks like he just heard a loud noise and was startled. It's over within seconds but it happens every night, and several times a night when he is sick. We finally caught a few 'good ones' on video (thanks to the video camera mounted over his bed so we can watch him while we are in another room during the few hours we are nurse-less between shifts) and forwarded the clip to his neurologist.
So now we have another medication to introduce into his small body. He is on so many different meds: 2 for reflux, 1 for muscle spasms and 1 for his lungs. And now one for seizures.
The one bright note in this is that his new medication has sometimes shown a positive side-effect in PMD kids - it may slow down PLP production, which in English, means that there is a chance it will lessen the severity of the PMD symptoms. So for now, we're keeping our fingers crossed and hoping for the best: no more 'startles' (it's still too hard to call them seizures) and fewer symptoms.