In May 2002, our son Jacob was born with paralyzed vocal cords, severe stridor and an inability to swallow without aspirating. Immediately out of the womb, Jacob’s fragile body was blue and his chest would collapse inward as he tried to breathe. He spent the first three months of his life in Toronto’s Hospital for Sick Children where he had a tube inserted into his stomach so that he could be fed safely without him having to swallow.
Jacob’s vocal chords are paralyzed in such a way that he can make sounds, but his breathing is compromised and he cannot protect his airway from food or drink. Initially, he would cry when in distress, but otherwise offered no facial expressions. After 10 long months, he cracked his first smile! Today, he smiles and laughs daily. He is a very cute and happy little boy. Unfortunately, he still lacks head control and will likely never walk or talk.
After many months of doctor visits and endless tests, it was confirmed by a DNA test conducted at AI Dupont Children’s Hospital in Delaware that Jacob was affected with connatal Pelizaeus-Merzbacher Disease (PMD). This rare x-linked genetic disease is thought to affect approximately 1:100,000 live births worldwide and is not limited to any particular demographic population. PMD is categorized as a myelin disorder, in the same family of diseases as Multiple Sclerosis.
What We Are Doing
We have established relationships with, and are in regular contact with neurologists and researchers in the North America and Europe.
We believe it is necessary to create awareness both among the medical community as well as the general population about this degenerative disease. In addition, we strongly believe that there are some potential treatment options that require specific study for PMD.
Thanks to donations raised by friends and family we have already funded 2 studies to help us get closer to a cure.
With continued support and encouragement, we are hopeful that we can find a useful treatment for children with PMD.
We appreciate all the effort that has helped us get this far.