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, at four and a half years of age, 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

in North America and Europe.  We have established relationships with, and are in regular contact with neurologists, researchers and in North America and Europe.  We have established relationships with, and are in regular contact with neurologists, researchers and geneticists in the US, France and Germany who specialize in PMD. We are in regular contact with many of these doctors.
geneticists in the US, France and Germany who specialize in PMD. We are in regular contact with many of these doctors.

We believe it is necessary to create awareness both among the medical community as well as the general population about this preventable disease. In addition, we strongly believe that there are some potential treatment options that require specific study for PMD but in theory, appear promising.

A class of drugs known as potassium channel blockers shows promise in improving neurological function in patients affected by lack of myelin. However, these drugs typically have severe side effects making them unsuitable. There is an excellent opportunity to improve neurological function in a variety of myelin disorders if less toxic drugs that block potassium channels can be developed.  

Thanks to donations raised by friends and family, we have recently funded a study to begin testing a specific drug that might help children with PMD and other myelin diseases. We expect to have results shortly that will support human trials for the severely affected children like Jacob. If all goes well, we will need additional support and funding to start human trials and arrange for compassionate access to the experimental drug.

With continued support and encouragement, we are hopeful that this research will lead to the first available treatment for children with PMD. We appreciate all the effort that has helped us get this far.