Visit the PMD Foundation website
This family driven foundation will proactively serve those affected by Pelizaeus-Merzbacher Disease (the PMD community) by supporting programs of education, research, service and advocacy. We are dedicated to providing patients and their families with information about their disease and assistance in identifying sources of medical care, social service, and genetic counseling; establishing a communications network among families; increasing public awareness and acting as an information source for health care providers; and promoting research into causes, treatment, prevention and cure of PMD.
Children and Families – most PMD children face severe motor impairment along with a number of related physical and intellectual development issues. This creates a varied set of challenges for both the child and the family. Specifically, quality of life becomes a greater concern as the children grow. Parents need help with providing for basic needs. Specialized equipment, such as wheelchairs, walkers, etc., is expensive and often not covered under the families’ health care plans as is sometimes the case with therapies and treatment. From an intellectual standpoint, the severe motor impairment often creates a communication barrier that is more often than not, the greatest hurdle towards further development. Providing access to available technologies can go a long way in enabling these children to get more in touch with the world around them as well as provide them with the opportunity for further development.
The General Public – although the clinical basis of the disease was described more than 100 years ago, widespread awareness of PMD among the general public is still a significant issue. With symptoms similar to severe Cerebral Palsy, PMD is still misdiagnosed to a large extent. Further, as screening tests have been developed to identify the mutation in suspected carrier mothers, the implications are that increased awareness and medical counseling can go a long way towards reducing the occurrences of the disease.