Has anyone ever heard of mitochondrial disease?
April 11, 2007 10:18pm CST
For those of you who haven't heard of it here is what it is: Mitochondrial disease result from failure of mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fali and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common. That's just a little bit of information on it. If you would like to know more just go to www.umdf.org . Anyways, the reason I am asking about this is because one of my friends has 5 children. Well 2 of those 5 children have this disease. Doctors suspect that the only 3 could have the disease but aren't showing symtoms and it hasn't been discovered yet. The youngest little girl that has it is 9 months old. She has been on a feeding tube since she was 2 months old and all of her organs are slowly shutting down on her. They don't expect her to live to be 2 years old. The other one that has it is 8 years old. His disease wasn't diagnosed until later and his symptoms haven't been as bad until recently. He has matter growing in his brain which is causing a speech impedement, lack of reason and judgement, and loss of balance. He is getting worse by the day. They don't expect him to live to see 10 years old. This really saddens me that my friend is going through this. She is not able to work because she is constantly going to doctors appointments and is on Medicaid. Her other 3 kids need to be tested for the disease but the only doctor close enough to her that does testing is in Atlanta and doesn't take Medicaid and it will cost $48,000 per kid just to be tested. Obviously she can't afford that. I've told her she should call around to the local news stations and newspapers to see if her family could get some kind of fund raiser going on or maybe even a telethon or something to try to gain the money. She's even thought of writing to Oprah about this since it's such a rare case. Sorry this has been such a long post. I've just been really worried about it. My questions to you all is have you ever known anyone who has gone through this, if so how did they handle it? And what are some ideas I could give her as ways to earn money to pay for the testing? Thanks for reading and any input. : )
3 people like this
• United States
14 Apr 07
This is the first I've ever heard about mitochodrial disease. How unfortunate for your friend, to have 5 children with two of them having the disease and the other 3 suspected of having it. It's hard to imagine what she's going through. I don't have any new ideas for fund raising, but it can't hurt to try some of the things you've suggested. Has your friend tried to find a doctor that would take Medicaid, regardless of how far she would have to travel? She might be able to find something like a Ronald McDonald house where she could stay while her children get tested. As I was looking over the article at umdf.org, I saw that mother trying to raise awareness of this disease to fund research. The idea that other common diseases are linked to mitochondrial malfunction may help to stir more interest, so somehow, if you could think of a good way to spread the information, at least you would have a good start. Hopefully, you'll get a good response from Mylotters.
• United States
14 Apr 07
I'll have to ask her where some other doctors are in the country where she could have these tests run. You would think since this disease is so rare they would jump at the chance to test these children and try to come up with some new cures since there are no cures as of right now. Thanks for the response.
• United States
12 Apr 07
I enjoyed this discussion very much. I learned alot. I have never heard of this disease before now and you shared so much knowledge with us at mylot. Thank you for sharing and for caring so much about your friend and their family.