Need help.....distraught

[Guest guest]

Sorry to hear about your appointment. It is definatly not fun to hear that this is severe, even if it is expected. Gracie's pathology is about as bad as it can get, but she is still doing well. She is non specific, and we know she will probally never be completely understood. In summary she is defficiant or on the low end of normal on all four chains, also all of her mitochondria are mutated and do not function well. I guess the mitochondria are very large but the cristae is very short. Honestly, I do not even try to understand it. The only big words that popped out at me on the report are "no normal mitochondria found". It was suspected at first that she also had a depletion effect, but it still has yet to be proven. She started in infancy with a direct very hard, very fast progression.

Now for the good news. Since being on the cocktail, all of her blood draws are completely normal (except low blood sugar.) She is developing right on target, except for speech but that too is coming along. I am not saying she is symptom free, she has alot of problems. Even with the constant "new thing" popping up (sometimes it seems daily) all of her new problems are in control. When it seems like she could not possibly get anything else, she starts one. We are, now, confident that as long as she is carefull and does not get any major virus, mito will not kill her. Dr. Cohen is amazed everytime he sees her, because nobody expected her to do so well. We know she will probally never see a cure to this, but at least we do know she will probally live a pretty "normal" life. It is not unrealistic to think of her going to school, college and even having a family some day (I hope she chooses to adopt though.) We do not try to think of the "what if's", but we are prepared for her potential risk of having some major setbacks. We have become comfortable that one day she may need a wheelchair, one day she may to be fed through her g tube (so far it is only for medications) and so on.

Sorry this got long. I just want you to know, that even with bad pathology it is not a death sentence for your little guy. Grace actually has done much better since her diagnoses has been made. At least now we are not shooting blind, just half blindfolded now. There are some standards of care for this disease, and they work for Grace. Best wishes, hang in there. If you need someone to talk to, you know where to turn.

mommy to Grace (two next week)

[Guest guest]

How was Caden diagnosed? Understand that docs that aren't mito trained have a very limited and scewed version of reality when it comes to the disease. I think the thing to remember is it affects every child so differently. You could put ten kids with complex I in the same room and they would LOOK very very different. I know when I started with this list almost three years ago, the general thought was that mito was almost always fatal and kids with Complex 4 typically had it the worst. When was dxed with 4 I couldn't understand while he was still with us since it seemed most kids with that variation died before they were 2. had complex I and IV, I+III and II+III basically all over the place. He went so fast...having his first sx at 5.5...diagnosed right before he turned 6 and died 11 months later...I have never seen anything near that. Use to be that they thought if you were dxed as an infant then they would die before they were 2, and the older you were when you became symptomatic the worse the disease. I don't think thats reality...because now people are being diagnosed earlier and more often so we know its not neccessarily true.

The reason 's disease went so fast was b/c his brain was the major organ affected. He never had an illness once he was symptomatic...so we never struggled with the metabolic stuff. He had more and more autonomic issues as we went along and there are just not adequate drugs and treatments to alter brain dysfunction. I would encourage you to look at how your child is affected on a day to day basis instead of the whole disease since its cellular and so unpredictable. I think when and if the time comes where you are looking at end of life care for your child, you will know its time and how to make decisions and become one of the brave mothers that has had to do the same.

As always, I am happy to talk to anyone by telephone...my phone number is listed on both of our websites. I am also happy to call you since I have free long distance. If you would like to address me on the list, please put my name in the title since I don't get to read every post any more. I hope it helps...

deb...mom to three great adopted kids... (07.04.96-05.26.03) with Mitochondrial Disease, Gaige age 5 with High Functioning Autism & dysfluency and Bliss age 3 with very very mild Cerebral Palsy.http://www.heartliftersgallery.com/http://www.lifeofloveproject.org/

[Guest guest]

We just got back from our geneticist who thinks Caeden's form of

mitochondrial is severe and probably progressive. Hard hit, but not

unexpected. We still don't have a definative dx other than

Mitochondrial myopothy NOS (non specific) We are awaiting DNA typing

on MTDNA and such, but he thinks its unlikely we will find an answer.

My question my husband and I have is who has kids that are severe

without a specific type and what is your prognosis. He keeps telling

us generally when they are dx this early with this severeity and he

said there is still alot more severe he can get but what he has, has

been rapid onset is generally a progressive type. Any info u have

would be greatly appreciated. Also we have to have a 2nd surgery on

granulkation tissue after nearly 3 weeks its doubled in size again.

grrrr frustration.

(mom to Caeden 2 1/2)

[Guest guest]

,

My daughter presented at birth but was not diagnosed until

she was 1 1/2 yrs. old. They never expected her to live past two

(though they never said that then). She is four. With the

supplements and being very agressive when fighting crisis situations

I believe she may go on for a long time. Of course anything can

happen at any time-infection, stroke or whatever, but she is doing

well. With her presenting at birth it was supposed to be one of the

most agressive and like I said, she is still running around as we

speak! She has been diagnosed with Complex III/IV. She has liver,

heart, muscle and bone marrow involvent. Don't give up.

Dawn