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Name: mommytojoshua
[ Original Post ]
hello to all the mommies here. I just joined and I would like to ask for some advice here. I have a three year old boy name joshua who at the age of 5 months started having infatile spasms. It was followed by developmetal delayed. He can't walk on his own, he can't crawl, he can't talk, he can say momma and a little of dadda, but nothing else. His seizures are gone he no longer has them. He had gerd, so he had surgery, he had a nissen done with a gtube. He has had that since 2009. He had neumonia which I didn't know he did. But he is still hard to stick with needle. They ahve hard time finding a vein. But he is doing better now with that. He is constipated so I have to give him miralax. He has a small head for his age. Low tone, He has a happy demeanor. He laughs all the time, he loves music, he had undesceneded testicles. He had surgery on that too. They removed one but kept one. There is more features but the other part is that his first genetics dr which I have seen three times told me that he doesn't know what my son has and he doesn't want to take any testing right now. He is a mystery case. I ahve thought it was kleefstra syndrome or the angelman syndrome. But they took the chromosome array test two years ago and it came out normal. So I decedied to get a second opinion. So I went to St Petersburg Fl and I have met her before last year and they took the urine test for the metabolic disorders nad htey all came out normal. But she took a updated chromosome array test and again came out normal. So she took a mitochondria dna screening test. Now if this comes out normal then I won't see them until another year. Now can anyone please tell em what the mitochondria test shows or tells?
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