We really need some advice.

Hello, I do not know tons, but I can tell you about my own personal experience. I had lots of tests looking for mitochondrial disease done, but I didn't get a diagnosis of mitochondrial myopathy until I had the muscle biopsy. The symptoms you are talking about in your boys can be found in other kids who have been diagnosed with mito. I hope that you are able to find some answers soon. The waiting can be frustraiting!

Your 3 year old sounds like my 2 year old! He is very bright and has learned to walk, etc. He has been delayed. My son had severe pulmonary hypertension at birth but those issues have thankfully resolved and were replaced by a strange and seemingly disconnected set of sympotoms which you have pretty much listed in your comment! We had a muscle biopsy done in september during my son's g-tube placement and it confirmed a mitochondrial disorder. I was sent on to Columbia University in NY for further testing and those doctors have thrown out the first biopsy results and we are now waiting for them to do a second biopsy. I understand your frustration. I also am trying to educate myself and do all I can. Without a confirmed diagnosis from a mitochondrial specialist I am left without a lot of medical information about my son as well. I have learned a lot from this group and the conference calls. After hearing a parent mention hydration issues I knew right away that I had to look at that with my son--it has made a huge difference just tracking his fluids. For the time try anything you think sounds like it would apply to your boys and see if it helps. I think I understand you to be saying that the doctors have said that a negative mtDNA would rule out a disorder? I am new here but that does not sound right. I believe I have heard many people say that there mtDNA was not the problem but rather nuclear DNA. My doctor told me he would not test mtDNA b/c it only covered x amount of defects. He felt it would leave a lot of questions if it did come back negative. I would make it clear to your doctors that you want to pursue a diagnosis. You are certainly not alone in your frustration or your desire to do all you can for your kids. Good luck with everything.

C - Welcome to forum! I'll share some mito basics - UMDF.org has more complicated/detailed version and I think on mitoAction,too. MtDNA, which is only from Mom to child, account for only approx 20% of known mutations; the other approx 80% are thought to be from nuclear DNA. There are a few genes known for nDNA I think maybe about a dozen. So there is still a wide range of possibilites for diagnosis. I also have 2 kids, who are not diagnosed with anything but a laundry list of signs - similar to your boys. Kelly-Ann in MN

If you do the biopsy make sure you do a fresh one. I am sure that UCSD does fresh. My son's first biopsy was done at a great hospital but the freezing/thrawing process may have been mishandled. His muscle was taken at Johns Hopkins and sent to Cleveland Clinic-both places with very good reputations. Since you are fotunate enough to be going to UCSD I would make sure they do all the testing. Good luck to you. I hope you get the answers you need to move forward and help your boys thrive.

My first muscle biopsy was mishandled. They only looked for vacuoles. There was an abnormallity noted, but since it wasn't vacuoles they didn't have it analyzed further. I am scared of doing a second biopsy. It has been 6 years, but the muscle still hasn't grown back.

Sorry if I sound ignorant but what do you mean the muscle did not grow back yet? My son has not yet doen the second biopsy and I don't think we have a choice in his case but should I worry? He seems fine with the first locatation so I never thought about it.

cberginc: I have been reading quite a bit of information just like you, in order to educate myself. While doing so, I came across a disease that sounds similar to the symptoms your boys. It's called Alexander Disease. They also sound similar to my son. My oldest son (10) is suspected of having Mitochondrial Myopathy. Some days he is absolutely normal and other days he really struggles. We have been told conflicting information by Neurology so I started detailed searching on my own. The reason Alexander's Disease struck me in regard to your oldest son is the changes in Myelin. I have wondered about Alexander's Disease for my son....Anyway, I realize how hard it is just not knowing so I hope some of this has helped.

We have two little girls, 2 1/2 and 8 months old. The neurologist has told us that he suspects a mito disorder in both girls and is sending us to a specialist. The older one has presented with significant apnea and respiratory failure as an infant, muscle weakness, significant developmental delays including no way to communicate, heat intolerance, chronic fatigue, severe recurrent illnesses including MRSA, failure to thrive, seizures, and now neuromuscular degeneration. We've had her in therapy for over a year and it has helped in the past but it seems to have stopped working. She is heading down hill fast with her coordination issues getting worse and she's not sleeping which does not help her fatigue. I have a 2 year old that lays on the couch all the time. It takes her 24 hours to recover from a 30 minute trip to the park. We're so frustrated and so lost. And now our 8 month old is starting to display the same symptoms. Up until now we've been told she was fine but at her last well baby visit on friday they hit us with the news. We're desperate for any suggestions, words of wisdom, or anything else anyone has to offer. We're also terrified of the tests, particularly of the muscle biopsy, and what it will do to our older one. She's already so run down and it took her weeks to recover from just a set of tubes for her ears.