She has PVL, Lipomas, and cortical blindness along with a whole lot of other conditions.
Her DX is Mitochondrial Depletion Syndrome/Encephlyomyopathy/Cortical Blindness/Optic Atrophy/Developmentally delayed/global hypontia/mild microcephly/g-j tube
She is the most darling kiddo you will ever meet.
Is there a way to reverse PVL? Improve? Maintain?
I am an open minded parent, that perhaps has seen Lorenzo's oil one to many times..but I believe that If I do not try..who will.
Thank you so much
millie Julianna's mommy
Hi. what a precious little girl. I know that if you are like I was and am, every day with her is a gift. I have been looking through this site over and over and do not see any doctors ever addressing questions regarding Mitochondrial Myopathy diseases. Many years ago after my daughter died (at age 9) with what was probably undiagnosed Pearsons strain of Mitochondrial disease, I was diagnosed with it affecting things different and not as severe as hers was. Of course, there is no way to know for sure if that is what she had because they were not testing for such things in NC when she was born so they just kept telling me she had "atypical" one thing or another. At emory though, the description was the first that fit her and then family history, etc. that is just the background. I have a question and a response for you. First, have you contacted Emory University for any innovations or suggestions regarding Julianna? I know that they do research there and they gave me some helpful recommendations that allowed me to function better, longer. I don't know that there is anything that can reverse it, but maybe they will have some ideas on something that can slow its progression. It also seems that I read that there is work done in boston, but I would need to see if I can find info for you as I have no personal information on that program. We were stationed all over but I did not get hooked into that program as we were only there for a year. The sad part still is (over twenty years after my Allison's death) that she would still have died today. On top of multisystem endocrine problems, she did not produce red blood cells and was transfusion dependent her whole life, which caused a whole set of problems on their own. There are just not enough sick (that is the good news) with this stuff for the kind of effort required to pay for the research to find a cure.
My question is regarding her lipomas as I have gotten them now all over my arms, body, a few in my legs (although not as easily felt). What have they said about them to you? Do they increase in number and size? Did they tell you there is anything that requires her to be tested; ie: to see if they are in other parts of the body, in muscle, etc.? I don't know and read they are a problem with MM but noone here (we are in KY now) seems able to tell me what that means.
Do you have any Mitochondrial disease? did they also test you? do you have other children?
Finally, take care and God Bless. She is truly beautiful and I know from working with sick children over the years through make a wish, that they have a special grace that us mere mortals do not have. They just have a sweetness that is somehow extraordinary and those of us who have them in our lives are truly blessed.
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