In January of 2011, we learned that our then three and a half year old son Reed has Sanfilippo Syndrome Type A, a rare and fatal neurodegenerative disease. The disease is very rare, affecting about 1 in 70,000 births. To put that in perspective, according to NOAH, you are seven times more likely to be struck be lightening over the course of an 80 year life than be born with the disease.
Sanfilippo is an autosomal recessive disease, which means my wife and I are unwitting carriers. Reed’s genetic defect results in a missing or dysfunctional enzyme which results in accumulated material in the brain, resulting in progressive brain damage. Without treatment the prognosis is bleak. He will lose all his skills: the ability to talk, walk, eat, breath and likely die by age fifteen. That is the bad news. The good news is that there is hope for the future!
A phase I/II enzyme replacement study has been initiated overseas by Shire HGT. We have spent this year participating in a Natural History Study for Sanfilippo Syndrome, where researchers are studying the natural progression of the disease. The natural history study is being performed in preparation for multi-national pivotal study which we hope will begin in 2012!
The road forward is not easy, enzyme replacement for Sanfilippo and many other central nervous system diseases is complicated by the blood-brain-barrier which protects the brain. Because of this barrier, drugs will have to be administered intrathecally – meaning through a port connected to a catheter that goes all the way to his spinal fluid. However, we know and understand the risks and are prepared to do whatever needs to be done.
Over this year I truly learned the lesson that happiness is not having what you want, but wanting what you have. Reed is now four and a half, we spend our evenings watching Dora and Goofy and that is just fine by me. In fact, even if treatment only halts the disease or offers minimal recovery, I would consider myself blessed to watch cartoons with him for the rest of my life. I would be lying if I said that things were rosy.
Serious chronic illness in a child is stressful and results in a lot of sleepless nights for everyone. At the same time, I have met many amazing parents that have dealt with multiple affected children who have somehow kept it together through very tough times. They handle life with grace, humility and a sense of humor that leaves me in awe. The connections that I have made with these families, mostly through the National MPS Society and Facebook, have been so important. I am inspired by their strength and the hope that our best days are yet to come.
You can learn more about us or follow our blog at https://rallyforreed.com
Website for the National MPS Society: https://www.mpssociety.org