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New to this all, Leigh's is suspected

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Hello, my husband and I were just told that our beautiful 1 year old daughter most likely has Leigh's Disease. At about 6 months, she started regressing with sitting and never mastered the milestone. She has never crawled, or walked, and has hypotonia. After months of waiting to see a Neuro in LA, we were immediately admitted to the hospital for testing within 10 minutes of the appointment. After her MRI, and 2 different reads from specialists, the news was delivered to us that they suspected MitoDX. After we were discharged I googled mito disease I knew right away that if she had this, it was Leighs just by the description. My heart was ripped out of my chest. She is the most beautiful and happy baby, and the thought of losing her is not a option. Our Genetic specialist told us this past Monday that it is most likely Leigh's. We all sobbed together, I don't think I have ever seen a Dr. cry. I have so much hope that she will some how survive this. I have read wonderful things about EPI-743. I am hoping to hear from some of you that are in similar situations and can give me hope and guidance. My Dr. has said that the trial is now closed. Is there anything I can do about that? Who can I contact? 1 month ago, I never knew what Mito Disease was, now the word tears my heart apart. Wishing you all, and your children health and love. Hope to hear from you soon. Thank you, Venessa

Dariens_Daddy's picture

Dariens_Daddy

04/05/2015

Venessa,

My heart goes out to you. I found your post trying to find any information I could about this wretched disease. We have been going back and forth with specialists for years about our daughter. We have had several misdiagnoses since we started trying to learn what was wrong with our daughter 6 years ago. We know she has mito disease, but we are only now being led to believe she has Leigh's. Still not conclusive, since we are waiting to hear back on all of the genetic testing.

We didn't start getting real answers until we went to TGEN in Phoenix. It is a non-profit children's rare disease research center. We know people with children that have Leigh's and there kids are doing much better. Yes the disease is still terminal, but I believe there is hope with all of the advancements in genetics. We literally know twice as much as we did last year and with some prayer and luck they might just beat this thing in our children's lives.