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#1
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Update on Shiny
Shiny is two, and still nursing. She'd gotten down to about 3 feeds a
day, but a tummy bug has set her to nursing semi-constantly, and since she's mostly not biting me, I'm letting her. In early March, I was doing some research and found a connection between a syndrome called Coenzyme Q10 deficiency syndrome and Shiny's deletion. That is, she is missing one of the genes that helps code a protein that is a precursor to Coenzyme Q10. While her symptoms are not as severe as a full blown recessive mutation deficiency, they are consistent with diminished levels of CoQ10 in her system, namely cognitive and neuromuscular issues... there are other issues which Shiny has not been diagnosed with but which the other girls with the same deletion do have, some of them, such as kidney issues and seizures. Also, the deficiency tends to lead to progressive symptoms, which is totally consistent with the clinical picture of kids who start out with more language at 2 or 3 years than they have at 13 or 20 years. The exciting thing? It's treatable. 300 mg of Coenzyme Q10 per day. I buy it at Costco, over the counter, and she just eats the softgels with a little cheese, no fuss. When she's sick, I can even put a little on my nipple and then let her nurse it off, totally bland stuff with maybe a touch of a "tea" flavor. Anyway, within days of treatment we were seeing more language. TONS more signing and a lot more attempts at verbal expression, and she actually seems to be building vocabulary. She's also gone from belly- crawling to hands-and-knees, and seems very much emotionally 2 years old. I would put her cognitive development at closer to 18 months and her gross motor closer to a year, but her language is definitely taking off, especially receptive, but even the expressive. A couple days after starting treatment, she started following along with the gestures of "itsy bitsy spider"... not accurately, but the gist is there. Also Pattycake. And she gained 3 pounds in about 3 1/2 weeks. It was amazing--she went from 3rd or 4th percentile to closer to 25th percentile almost overnight. And not just fat--she's taller too. Jenrose |
#2
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Update on Shiny
Thanks for the update Jenrose.
How wonderful that something so simple can make such a huge difference to shiny's life. Kudos to you for turning up this link on your own. I hope she continues to improve and reach her full potential. Larissa |
#3
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Update on Shiny
wrote in message ps.com... Shiny is two, and still nursing. She'd gotten down to about 3 feeds a day, but a tummy bug has set her to nursing semi-constantly, and since she's mostly not biting me, I'm letting her. In early March, I was doing some research and found a connection between a syndrome called Coenzyme Q10 deficiency syndrome and Shiny's deletion. That is, she is missing one of the genes that helps code a protein that is a precursor to Coenzyme Q10. The exciting thing? It's treatable. 300 mg of Coenzyme Q10 per day. I buy it at Costco, over the counter, and she just eats the softgels with a little cheese, no fuss. Awesome. Jess |
#4
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Update on Shiny
wrote in message
ps.com... Shiny is two, and still nursing. She'd gotten down to about 3 feeds a day, but a tummy bug has set her to nursing semi-constantly, and since she's mostly not biting me, I'm letting her. In early March, I was doing some research and found a connection between a syndrome called Coenzyme Q10 deficiency syndrome and Shiny's deletion. That is, she is missing one of the genes that helps code a protein that is a precursor to Coenzyme Q10. While her symptoms are not as severe as a full blown recessive mutation deficiency, they are consistent with diminished levels of CoQ10 in her system, namely cognitive and neuromuscular issues... there are other issues which Shiny has not been diagnosed with but which the other girls with the same deletion do have, some of them, such as kidney issues and seizures. Also, the deficiency tends to lead to progressive symptoms, which is totally consistent with the clinical picture of kids who start out with more language at 2 or 3 years than they have at 13 or 20 years. The exciting thing? It's treatable. 300 mg of Coenzyme Q10 per day. I buy it at Costco, over the counter, and she just eats the softgels with a little cheese, no fuss. When she's sick, I can even put a little on my nipple and then let her nurse it off, totally bland stuff with maybe a touch of a "tea" flavor. Anyway, within days of treatment we were seeing more language. TONS more signing and a lot more attempts at verbal expression, and she actually seems to be building vocabulary. She's also gone from belly- crawling to hands-and-knees, and seems very much emotionally 2 years old. I would put her cognitive development at closer to 18 months and her gross motor closer to a year, but her language is definitely taking off, especially receptive, but even the expressive. A couple days after starting treatment, she started following along with the gestures of "itsy bitsy spider"... not accurately, but the gist is there. Also Pattycake. And she gained 3 pounds in about 3 1/2 weeks. It was amazing--she went from 3rd or 4th percentile to closer to 25th percentile almost overnight. And not just fat--she's taller too. Jenrose That's just wonderful! It must be so exciting for you, after all your hard work. Liz |
#5
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Update on Shiny
Jenrose, that's just staggering! Well done for spotting the link! You must
be walking on air. -- Chookie -- Sydney, Australia (Replace "foulspambegone" with "optushome" to reply) "Parenthood is like the modern stone washing process for denim jeans. You may start out crisp, neat and tough, but you end up pale, limp and wrinkled." Kerry Cue |
#6
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Update on Shiny
So cool that you figured out another way to help her, besides all you
have already been doing all along . . . do you have some recent pictures? I'd love to see her! Leslie |
#7
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Update on Shiny
On Apr 10, 3:32 am, wrote:
Shiny is two, and still nursing. She'd gotten down to about 3 feeds a day, but a tummy bug has set her to nursing semi-constantly, and since she's mostly not biting me, I'm letting her. In early March, I was doing some research and found a connection between a syndrome called Coenzyme Q10 deficiency syndrome and Shiny's deletion. That is, she is missing one of the genes that helps code a protein that is a precursor to Coenzyme Q10. While her symptoms are not as severe as a full blown recessive mutation deficiency, they are consistent with diminished levels of CoQ10 in her system, namely cognitive and neuromuscular issues... there are other issues which Shiny has not been diagnosed with but which the other girls with the same deletion do have, some of them, such as kidney issues and seizures. Also, the deficiency tends to lead to progressive symptoms, which is totally consistent with the clinical picture of kids who start out with more language at 2 or 3 years than they have at 13 or 20 years. The exciting thing? It's treatable. 300 mg of Coenzyme Q10 per day. I buy it at Costco, over the counter, and she just eats the softgels with a little cheese, no fuss. When she's sick, I can even put a little on my nipple and then let her nurse it off, totally bland stuff with maybe a touch of a "tea" flavor. Anyway, within days of treatment we were seeing more language. TONS more signing and a lot more attempts at verbal expression, and she actually seems to be building vocabulary. She's also gone from belly- crawling to hands-and-knees, and seems very much emotionally 2 years old. I would put her cognitive development at closer to 18 months and her gross motor closer to a year, but her language is definitely taking off, especially receptive, but even the expressive. A couple days after starting treatment, she started following along with the gestures of "itsy bitsy spider"... not accurately, but the gist is there. Also Pattycake. And she gained 3 pounds in about 3 1/2 weeks. It was amazing--she went from 3rd or 4th percentile to closer to 25th percentile almost overnight. And not just fat--she's taller too. Jenrose Woo hoo! I'd read your earlier post about finding the info (I think that was at TBW), but was wondering how it had worked out. Sounds like it's really working!!! Irene |
#8
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Update on Shiny
wrote in message ps.com... Shiny is two, and still nursing. She'd gotten down to about 3 feeds a day, but a tummy bug has set her to nursing semi-constantly, and since she's mostly not biting me, I'm letting her. In early March, I was doing some research and found a connection between a syndrome called Coenzyme Q10 deficiency syndrome and Shiny's deletion. That is, she is missing one of the genes that helps code a protein that is a precursor to Coenzyme Q10. While her symptoms are not as severe as a full blown recessive mutation deficiency, they are consistent with diminished levels of CoQ10 in her system, namely cognitive and neuromuscular issues... there are other issues which Shiny has not been diagnosed with but which the other girls with the same deletion do have, some of them, such as kidney issues and seizures. Also, the deficiency tends to lead to progressive symptoms, which is totally consistent with the clinical picture of kids who start out with more language at 2 or 3 years than they have at 13 or 20 years. Snip exciting stuff. How amazing. Her quick response to the CoQ10 is staggering. Don't sit on the info though - do pass it on to others with the deletion, or a good paed. ... or even the manufacturers of the Coenzyme Q10. Amanda |
#9
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Update on Shiny
That's just awesome! It's wonderful to hear that she's doing so well. And
good on you for finding that info! Engram |
#10
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Update on Shiny
Wow, that's amazing. You are such a fab mom and a clever lady! Go Shiny!
Jeni |
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