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3486886 tn?1350413731

Mitochondrial Disease/Disorders

Is there anyone in the east coast(Pennsylvania)  that knows how many people affected by mitochrondrial disease/disorders which is maternal. Is there any literature out there. My younger son was affected at about 14 and has the mt (DNA),  possible MELAS, only thing is that doesn't fit is that he is about 6'5" not short staute, but doctors had no idea. He was taking a lot high powered medicines for his severe pain in thighs and back, trouble walking. He had trouble functioning in school, and went from a 4.00 down to a 75% grade average. One doctor thought maybe it was Juvenile RA. or fibromyalgia. He ended up on straight pain medicines which allowed him to pull up his grades to 4.00, but caused sides affects. We moved out of the area to the next county closer to Philadelphia. He attends college in area and  is pre-med. He has been going for testing about a year and  now at the end of it  ready to meet with genetics Dr. The doctors there found more clear concrete findings at the Health Systems of U Penn in Philadelphia that could be closer to the problem, in 5 months than the local hospital where we lived in 4 years.
We are all very happy about it and looking for HOPE  for future since it is maternal, and I may or may not have symptoms. I seeing dr now regularly for severe Oa, Os, myopathy, nerve pain and MCI/ early dementia in my early 50's, and metabolism which I believe is related. We need more chapters in the east coast and open forums where people can talk about  MITO.  Some Insurances now recognize this on going disease, affecting all ages. The Mito Foundation has been very helpful and has listed about 2 dozen doctors across the country from 2000. We need to see updates now.
4 Responses
620923 tn?1452919248

  Hi...I am also from Allentown, and u r so right this area is in dire need of more medical aid......I do not have or know much about Mitocohondrial issues, but it is something always brought up and looked at for many with Chiari Malformation which I do have, and going down to Philly was a waste I had to go to NYC to get a dr.....

I hope u get answers for ur DS and ur cause.....and I am hoping the same for Chiari in the Lehigh Valley.
3486886 tn?1350413731
I am constantly doing research on Mitochondrial diseases/ disorders and getting the word out. I'm going for updated testing to my RA, Neuro, Hemotologist, Orthopedic.  I want to try to get a chapter started in the Leigh County area. Philadelphia is a little far and Pittsburgh has a hugh network and speakers from Health System at U Penn  in Philadelphia are going top speak about Mito next week. It's a good 5 hours. Good luck with the NY Dr.
Avatar universal
hi im not from the east coast no where near..but my daughter has mitochondrial diseases..she has a myopathy,syrinx..goldberg and shprintzen syndrome with many other complications.
620923 tn?1452919248

  Thanks, I had surgery 3 yrs ago already.....now I am in the same boat trying to find a Dr for Ehlers-Danlos....the closest specialist is in Baltimore , MD......not sure y this has to be so difficult to find Drs.....

Pittsburgh is further to go then Philly and  I knew my way down there as my DD went to college there...but, they were of no help.....

I am glad u found a conference on Mito and next week...wow, I hope u get to go and get some invaluable info and contacts.

  Please keep me posted : )
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