MELAS syndrome

[cobyhouse]

Hi.
  thanks so much for this site. im not sure if i have the right area for this question, but i hope you can help anyway...
  Our 2.5 year old daughter has been diagnosed with MELAS syndrome. Apprently this is such a rare mitochondrial defect that the Metobolic Doctor at C.H.O.C. didnt really leave my wife and I with any concrete answers. We thought that since this is a specific syndrome that the symptoms were ALL going to happen and yet the doctor said that they may never happen or could happen at any time. He also said that since it is passed  maternally that our 8-year old son and newborn have a 100% chance of having MELAS and they may show the symptoms at anytime also.
  Do you have any insight into this horrible syndrome?
  DO you know of any leading doctors? I like CHOC, but i hear UC-Irvine is doing research..do you know where else we could go?
  We have read on-line that it is progressive and fatal, is this always true?
  Our daughter is not vomiting or having strokes, but i guess this 'wait and see' this is killing us- it MELAS always associated with stroke?
  We have come to terms with our middle daughters plight, but we were stunned to hear that our other 2 will have the Gene mutation. We are especially worried because we were told that it could show at any time from now till adulthood. There is so little known about this mutation (T3271C)and the only things i see on-line are really, really, bad. I hope this isnt too specific-i should just trust the metobologist, but he seemed to leave more questions than answers.
any info you have would be great.
thanks
AL

[frenchy2]

hello, I just found this web site because our son is suspected to have Melas. We do not know for sure but most of the symptoms are pointing in that direction. You are right to think it is serious. Our son was earing impaired at birth with no family history, he had hypotonia also(low muscle tone). Doctors never found the cause. When he was 4 he got really tired and sick at the school pool. We put it on the count of anxiety. When the tiredness happened again we scheduled an MRI. They found a couple of mini strokes in the cerebelum(lower part of the brain). They ran EKG, sonogram of the heart, angiogram and did not find anything. They started to do genetic research and his lactic acid was high, wich is a sign of melas. We are expecting confirmation next week and we're are also devastaded. We have a 2 year old and my wife is 7 month pregnant. Apparently our middle one shows no symptoms of it. The gene is communicated by the mother like you said, but it could be a mutated gene. So chances are the other kids are fine, we hope. There is an institute in Pittsburg that specialize in mitochondrial diseases. We are also trying to find out more about it. Our geneticist also said it is a "wait and see" game. Our son is 5 now and the next year or so will be revealing. I did not come accross support groups so finding your message was a good thing. I would be glad to communicate any extra info we'll find. We live in Jacksonville florida. Sincerly.cs

[Christie2004]

Here is a web page that seems to have links to some associated foundations:

http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=MELAS+Syndrome

[Kevin Kennedy, Ph.D.]

As you have already learned, this is avery serious and not common illness. In the United States it is thought to occur in approximately 16-18 of every 100,000 people. There is useful information on the internet, but it may be helpful to you to contact Dr. Fernando Scaglia at Bylor Medical School and Texas Children's Hospital. He is an expert on the condition and perhaps his office will able to provide you with information. It may be sensible to call his office and inquire.