Hi John,

Thanks for your response. I did find the SMA Foundation website. I actually called them about 9 AM today. No answer so I left my phone #. So many questions as I was only diagnosed a month ago based on the Invitae genetics test. My main problem now is finding a geneticist or neurologist who specializes in Type 4 SMA. I have not been able to find a specialist on Long Island. Several are "pediatric only" practices because most SMA cases involve young children. The CMT thing is tolerable because I know what to expect based on my family history with this disease. To complicate these two disorders, I also have MDS/MPN-RS-T which is an extremely rare blood cancer. I got that from exposure to toxins at Camp LeJeune, NC and from exposure to Dioxin in Vietnam. While I suspect those same toxins may be responsible for the SMA I'll never know for sure. I do know that I am missing the SMN1 gene and now I'm being tested to see how effective the backup SMN2 gene is working. My research indicates that the SMN2 gene normally does not produce enough protein to make up for the loss of the SMN1 gene. But I'll leave that up to the specialist, if I can find one on Long Island or NYC.

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