Dear Newly Diagnosed Parent(s),
I know the news you just received is not what you wanted to hear... Despite the bleak picture your doctor likely painted for you, let me assure you that if your child's diagnosis was made after a molecular analysis was done on his blood, it is correct. Even if you have no family history of PMD. Please remember that all mutations have to start somewhere. If you have been told that they have never seen this mutation before, it doesn't mean he doesn't have PMD, or that it is more rare than PMD already is. PMD mutations are unique within families, so if mom is a carrier she will have the same mutation as her son. However, because she has two X-chromosomes she doesn't have the disease, and is just a carrier. Also let me tell you PMD is not the death sentence your doctor may have indicated. I know individuals with this disease who are living into their 40's and 50's. PMD is not a progressive disease in the fact that the myelin is not destroyed, it was just never properly formed to begin with. Your son will make progress, he will not be "normal" but he WILL make progress. He may wiggle and/or combat crawl, but it is unlikely that he will walk. He will likely be wheelchair dependent throughout his life. He may or may not speak, but he will understand much more than he is able to communicate. Because PMD is a dysmyelinating vs demyelinating disease you will NOT see progression of the disease in the way some doctors may imply. They may loose some skills as they grow older, however it can generally be associated with things like illness, surgery, growth and/or maturity. My desire is that you will find some hope and peace in my words, and know that your son is a very unique individual. While he may not be able to do the things other children do he will know you, he does understand, and he will teach you more about life and love than an individual with an extensive vocabulary and a genius mentality probably could. His smile will charm everyone he meets and his unconditional love will melt the hardest hearts. He is truly a gift, enjoy every moment with him!
Patti
I know the news you just received is not what you wanted to hear... Despite the bleak picture your doctor likely painted for you, let me assure you that if your child's diagnosis was made after a molecular analysis was done on his blood, it is correct. Even if you have no family history of PMD. Please remember that all mutations have to start somewhere. If you have been told that they have never seen this mutation before, it doesn't mean he doesn't have PMD, or that it is more rare than PMD already is. PMD mutations are unique within families, so if mom is a carrier she will have the same mutation as her son. However, because she has two X-chromosomes she doesn't have the disease, and is just a carrier. Also let me tell you PMD is not the death sentence your doctor may have indicated. I know individuals with this disease who are living into their 40's and 50's. PMD is not a progressive disease in the fact that the myelin is not destroyed, it was just never properly formed to begin with. Your son will make progress, he will not be "normal" but he WILL make progress. He may wiggle and/or combat crawl, but it is unlikely that he will walk. He will likely be wheelchair dependent throughout his life. He may or may not speak, but he will understand much more than he is able to communicate. Because PMD is a dysmyelinating vs demyelinating disease you will NOT see progression of the disease in the way some doctors may imply. They may loose some skills as they grow older, however it can generally be associated with things like illness, surgery, growth and/or maturity. My desire is that you will find some hope and peace in my words, and know that your son is a very unique individual. While he may not be able to do the things other children do he will know you, he does understand, and he will teach you more about life and love than an individual with an extensive vocabulary and a genius mentality probably could. His smile will charm everyone he meets and his unconditional love will melt the hardest hearts. He is truly a gift, enjoy every moment with him!
Patti
