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New and looking for answers

Posted: September 23rd 2009

owen10

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Hi, my son Owen age 4 1/2 had a muscle biopsy a month ago. The first labs came back with abnormal staining, suggesting mitochondrial disease. The way the sample stained is closely related to MELAS. My son is weak in his hips, core and shoulders. He gets bursts of energy but most days he says mama I am so tired all the time. He has abnormal eye movements at times but cognitvely he is right on track. I have a one year old daughter and wondering if I should have her tested. I am afraid of the future and angry and sad and .....you get the point. I need support from others and some insight form other parents with this or adults.  Now looking back my grandmother had this and my mom has been sick for years with no diagnosis. I want to know if there are any other good support group for this and good info. Thank you for reading this,it's nice to know people can understand....Thanks, Carrie
Tina_EvesMum's picture

Hi Carrie, I am too tired to

Submitted by Tina_EvesMum on Wed, 09/23/2009 - 3:47pm.

Hi Carrie, I am too tired to answer your post in detail tonight. Itt has been a long week, my daughter is now almost 6 and has been diagnosed over the last 18 months with Leighs disease. I certainly understand your fears an dfrustrations. Welcometo the group and I will try and be more open tomorrow. much love Tina
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Tina Mum of 5 children Eve has just been given a suspected diagnosis of Mitochondrial Cytopathy.

I do not know what the future holds but I am glad I know who holds the future!

Carrie, If it looking like

Submitted by arktjk on Wed, 09/23/2009 - 4:20pm.

Carrie, If it looking like it may be melas, has anyone bothered to test your child)or any family members) through blood dna testing? If not, this is quite simple, alhtough there are many false negatives, especially if the heteroplasmy level in the blood is too low to be detected. If any of you in the maternal side tests postive using the blood dna method, you can be pretty sure everyone on the maternal side has the mutation and not everyone would nececesarily need to be tested, especially if people are having the symptoms. Hope this gives you some insight, assuming it is likely melas.
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Hi Carrie. I have mixed

Submitted by plosure on Wed, 09/23/2009 - 8:30pm.

Hi Carrie. I have mixed feelings on putting your daughter through all the testing. My daughter Audrey now 2 1/2 was diagnosed this past April. We don't have a specific diagnosis..just that it is a mito disorder. She has low muscle tone, didn't walk till after turning two and has been late on milestones...but is meeting them on her time. Speech is delayed but makes prgress every day. How is your daughter with meeting her milestones? My son...who is 6 has had issues with delays...and I wondererd about testing him. In fact...we could test the whole family....but I am at the point...why? Every doctor I have talked to says the same thing...every patient is different. I am being hopeful....that she is going to overcome these challenges and live a full life. I have to hold on to that. Take one day at a time. Enjoy your children every moment. None of us know what our future holds. If you have concerns about your daughter...because she is not meeting her milestones...then maybe test but if not...I would wait. I'm trying so hard to not get wrapped up in all the what ifs...it is so very hard and frustrating when you find there is so much they just don't know about this...Thinking of you...Keep faith...I don't know what I would do without it. Paula

Thanks everyone for the

Submitted by owen10 on Sun, 09/27/2009 - 8:32am.

Thanks everyone for the info...I am still in the learning process of this disease. My daughter is not exhibiting any symptoms right now and she hit her milestones pretty much on time. Are there any other parents with kids with MELAS? I am wondering if seizures and cognitive regression will happen sometime down the road even if they are not happening right now. I know no 2 cases are the same but I also know MELAS affects you neurologically. Are there any other support forums that you guys like out there?

Carrie, My family has MELAS.

Submitted by arktjk on Sun, 09/27/2009 - 12:16pm.

Carrie, My family has MELAS. All 3 of us are affected very differently. My daughter was severly affected and passed away in March. My son is almost 7, not too many problems, and myself mild problems, but affects my daily living. If you would like to email me directly, my address is arktjk@comcast.net. Best wishes. Beth
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