As a parent and sibling of a Pelizaues-Merzbacher (PMD) affected child, I have been a tireless advocate for this most worthy cause. This family driven organization’s goal is to provide awareness, family support and promote research. As a founding member, I have served on the board for almost 20 years. During this time, I was blessed to meet many families and their affected children who have captured my heart, touched my soul and enriched my life.
In all of my volunteer ventures (Archway school, St. Isaac Jogues Samaritan group, JCC tops program, and founding member of the Tech Tot library at Githens Center, to name a few), I rarely came to know a group of children and families so deserving and in need of our help as those affected by PMD.
PMD is not fatal. Instead, it quietly deprives a child’s ability to walk, talk and in some cases swallow. Tragically, there is a striking lack of awareness in the medical and general population that the disease even exists; so PMD is initially misdiagnosed as Cerebral Palsy, which is non-genetic.
Families usually share the same scenerio; a brother misdiagnosed as CP. It is not until a second or third child is born with the same symptoms that PMD is finally recognized; that is if you are fortunate enough to find a medical specialist who is aware of PMD’s existence.
Females are asymptomatic carriers of the gene; males suffer the physical consequences. A female carrier has a 50–50 chance of passing the gene onto her son or daughter. If the gene is passed to a female child, the daughter will be a carrier. If the gene is passed to a male child, the son will be physically helpless and unable to reproduce. In either case, this is devastating to families who, for generations did not know that the PMD gene was part of their family trait. It usually is diagnosed in a son, grandson or cousin.
PMD research is critical because it can solve the problem of “how to myelinate the nervous system.”
The good thing about PMD research is that the autoimmune system is not involved (as in Multiple Sclerosis) and there are important animal model — mice, rats and dogs that have PMD. They have the identical PMD gene as in humans. Other diseases do not have this advantage.
PMD research is essential in the understanding and intimate cure for PMD and related diseases such as Amyotrophic Lateral Sclerosis (ALS), often referred to as “Lou Gehrig’s Disease,” Multiple Sclerosis (MS), and Parkinson’s Disease.
Lastly, I will continue my passion in honor of my late brother, John and my son Jared, who sadly were taken from me at a very young age as a result of complications of this misunderstood disease.
If you are interested in learning more about PMD and the foundation, you can find us on the web at www.pmdfoundation.org
There you can also learn about the 14th annual golf outing to be held at the Cranberry Golf Club, West Windsor on Thursday June 18, in which funds raised go directly to support the kids and families effected by Pelizaeus-Merzbacher Disease.
From the bottom of my heart,
Laura Spear
