One of the things about Shiny’s deletion is that it acts like a mitochondrial problem. The problem is not in the DNA of her mitochondria, but in the “supply chains” that feed the mitochondrial processes. Here’s her story in a nutshell, in response to this article:
http://www.cnn.com/2012/09/21/health/mitochondrial-disease-martin-family/index.html?hpt=hp_c1
My daughter has a rare chromosome deletion (4q21.1-21.3). Early in her life she seemed a baby in slow motion, every stage lasted longer, everything was quieter, all her systems were affected. I would watch her play, and it looked like her batteries were running down, she’d just STOP every so often, stare off into space, and pat the floor. A minute would pass, and then she’d rouse and go on playing as if nothing had happened. Her muscle tone was low, she had trouble learning new words, and if she learned a new word, she’d forget an old one. She lost “mom” for 5 months. I kept saying, “Mitochondria”…
Other symptoms included: lack of hunger, lack of satiation (she’d never ask to eat, but would eat until she couldn’t physically cram more in once food was in front of her), lack of a ‘wake up’ cue and the ability to stay awake for unnerving lengths of time. She grew slowly and inconsistently, had swallowing and coordination issues, and at 23 months was still mostly scooting on her belly, not crawling up on hands and needs for more than a step.
One night, researching, I found information on a mutation in one of the genes in the area she was missing, which suggested that part of what she was missing was responsible for encoding some of the precursors for CoQ10. Her symptoms were a less dramatic version of the symptoms listed. When I got to the section on treatment, I started shaking. I woke my husband up. The treatment? CoQ10.
I sent emails off to the researchers who said essentially that there was no harm in trying CoQ10. So the next day I went to the store and picked up a bottle. I chewed a capsule myself to see if it was tolerable–it was, so I let my 23 month old chew a capsule at the dosage the doctors suggested. She did. I didn’t expect immediate results, I thought it might be a month or so.
3 days later she started picking up new words… without losing the old ones. She started crawling everywhere on hands and knees. She started asking to eat, and stopping when she was full. She had more energy during the day. The transformation was amazing.
We changed brands at one point, and she started losing ground again. Some brands of CoQ10 do not have good quality control. We switched back, and she started making progress again. That confirmed it for us. We added R-lipoic acid, to help her body use the CoQ10 better. Three days later she started stringing words together, and getting our attention before signing at us. We added a multivitamin, and DHA. We changed versions again of the major supplements to even better absorbed versions… and one day I realized that she was singing a Beatles song.
Today, my little girl who was not supposed to develop language… is reading. And learning to write. She counts, and is learning to subtract. We have confirmation now that other children with her syndrome do in fact have mitochondrial dysfunction, as I believed. She gets sick, her immune system isn’t perfect, but she gets better. And I have no idea how long she’ll live, or how far she’ll go. I have less of an idea now than I did when she was tiny (and then, I was wrong). But you know what? None of us know how long any of our children will live. None. We don’t know how much progress they will make, and I have had friends who were told as children they would not live long who are now in the their thirties or forties.
Mito cocktails are not “cures”… but as treatments go, they’re pretty dang miraculous in my book. My little girl can read. And she can laugh, and she can play, and she loves us, and we love her, and really, everything we get past that point is just gravy.
There is so much progress being made, so quickly… don’t count that baby boy out. Don’t take “no” for an answer, and don’t believe the doctors know as much as they imply. With rare syndromes, it’s all guesswork, because the sample sizes are and always will be too small for the controlled studies.
Since I put Shiny on CoQ10, many other kids have gone on similar supplements. It doesn’t work for all of the kids with her syndrome, but where it does work, the results are amazing. We have little kids who were not expected to live past age 2 or to develop language who are walking, talking, running, reading, writing, and new to us this month… dancing.
