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

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

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

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

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

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

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

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

That's just awesome! It's wonderful to hear that she's doing so well. And
good on you for finding that info!

Engram

Wow, that's amazing. You are such a fab mom and a clever lady! Go Shiny!

Jeni