Re: Question regarding RSS look...Deb

[Guest guest]

Mimi

I have heard about you from other parents! I read Isaac's story and you

must have been so scared! I am gladc you know now how to care for him.

From my time in the mito world, I know a lot of kids with FODs and Mito...so

I knew right away that hypoglycemia was a red flag for metabolic disease. I

just havne't gone there with True...I figure if the endo testing doesn't

show anything then we can visit that option.

Who do you see in Dallas for genetics? I have mito-friends there and it

seems like they aren't fond of their geneticist so maybe I will tell them about

yours.

I totally agree with enjoying each day...losing a child like we have, surely

makes you understand the important things in life. I am just gathering

information right now since we don't have a dx and we JUST found out about the

hypoG in January. I am hoping that it wont be a drawn out ordeal..and because

of True's other issues, the docs are pushing for an explanation for it all.

It just kinda puts some of his other treatments on hold until we know more.

My policy to prevent obsessing is...I don't learn anything until I have to.

Like on the mito list if someone is asking about kidney issues...we didn'

thave them so I didn't read it...with all our kids special needs its just too

much to try and keep up with everything.

thanks for responding! Isaac is so cute! I enjoyed getting to meet him!

deb...mom to four fab adopted kiddos... (07.04.96-05.26.03) with

Mitochondrial Myopathy...G, 6, with High Functioning Autism, Hypoglycemia and

Precocious Puberty...B, 4, with VERY mild Cerebral Palsy...and True 1yo, with

Neuromotor Disorder, Hypoglycemia, Myoclonus, ulcers, undiagnosed GI problems

plus severe food allergies (Eggs, Peanut, Milk, Soy, Corn, Rice, Oats and

Crab/Neocate-only), Plagiocephaly and Dysphagia....Married for 12 years to

F--one

swell guy!_ www.caringbridge.org/tn/wells/_

(http://www.caringbridge.org/tn/wells/) (http://www.lifeofloveproject.org/)

[Guest guest]

Hey Deb-

Imagine having Fatty Acid disorder and RSS! Isaac was diagnosed with

MCAD (medium chain acyl CoA dehydrogenase deficency) in June. We had

no idea that he had it until a stomach bug landed him in the ER. He

had a seizure because his blood sugar dropped to 4. His

endocrinologist said that he was very surprised that he had no brain

damage and that Isaac survived. We see a metabolic genetics

specialist in Dallas and he said that he is more concerned about

getting calories into Isaac than worrying too much about what he

eats. If you are interested in reading about it Isaac's story is on

savebabies.org under Fatty Acid Oxidation Disorders.

My point in sharing this is that I too was OBSESSED with RSS and

Isaac's motor delays until we had the episode in June and I realized

how close I had come to losing my precious boy. I have finally

stopped worrying so much and enjoy every day I am allowed the gift

of being his mother!

Mimi

P.S.- True is a DOLL! What a cutie pie

>

>

> In a message dated 2/8/2006 4:13:23 PM Central Standard Time,

> awesome929@... writes:

>

> Sometimes I think we just want to put a name with issues our

children have,

> such as height and weight issues. I've decided that I'm just

going to accept

> my son as he is and not give him a label until he has SERIOUS

issues. Life

> is just too short to worry about things that may never come to

pass! That's

> just my theory.

>

>

>

> Just wanted to pipe in here...not trying to start a debate. I

disagree with

> this on some levels. Our kids will never be a label to us and to

some with

> very mild issues, it doesn't matter I suppose. But my child,

like many

> others here, have hypoglycemia and its nervewracking not having

an explanation of

> why your child has this life-threatening problem. If there's an

explanation

> it helps to know it.

>

> For those with kids with hypoG...with RSS it doens't change

treatment but

> kids with Fatty Oxidation disorders (many also have hypoG), it

would make a huge

> difference. Those children can die if they are not on the right

kind of

> diet and you don't know if you need that diet unless you have a

diagnosis.

>

> I think the yearning for a diagnosis is living in the hope that

there may be

> a way to fix it. I think that's why we get so determined to get

one...how

> do you know you can't do something about it, if you don't know

what IT is.

> Does that make sense? I know some see it as labeling...I see it

as living in

> hope.

>

> deb...mom to four fab adopted kiddos... (07.04.96-05.26.03)

with

> Mitochondrial Myopathy...G, 6, with High Functioning Autism,

Hypoglycemia and

> Precocious Puberty...B, 4, with VERY mild Cerebral Palsy...and

True 1yo, with

> Neuromotor Disorder, Hypoglycemia, Myoclonus, ulcers, undiagnosed

GI problems

> plus severe food allergies (Eggs, Peanut, Milk, Soy, Corn, Rice,

Oats and

> Crab/Neocate-only), Plagiocephaly and Dysphagia....Married for 12

years to F--one

> swell guy!_ www.caringbridge.org/tn/wells/_

> (http://www.caringbridge.org/tn/wells/)

(http://www.lifeofloveproject.org/)

>

>

>

>

[Guest guest]

Deb,

I just wanted to say about the " RSS look " that when I look back at

pictures of Noah ... baby and not very old ... his face was more

square ... I'll try to post one later of when he was around a year I

think. Anyway his face has gotten more the RSS shape as he's gotten

older. The genetisist that we saw, wanted to test for the chromosome

7 for RSS because when she looked at Noah she felt he had some

features like large forehead, small low set ears, narrow jaw, but he

did not have a curved pinky; plus he definitely had the not

eating/weight issues. When she looked at a picture of our other kids

she wasn't sure that this was the diagnosis for Noah as alot of it

are family features that the other kids share in one way or another.

The only big difference with Noah was his teeth ... all of the rest

of us including my husband and I, have lots of space, large space

particularly between the two front teeth and some of us a

little " bucky " requiring braces; but Noah's were nicely together and

maybe a little tiny bit pushed in looking compared to ours. I always

knew that this must indicate something! It's probably a good thing

that we had so much space and that might have kept him from having

way too crowded of teeth if you know what I mean. Noah is one of the

less than 10% that show UPD7M and is GHD. He doesn't seem to have

alot of the gut issues that others do.

Dawna

Matt 13, 11, Kaitlyn 8, Noah 3 RSS, GHT, Periactin

>

> Mimi

>

> I have heard about you from other parents! I read Isaac's story

and you

> must have been so scared! I am gladc you know now how to care for

him.

>

> From my time in the mito world, I know a lot of kids with FODs and

Mito...so

> I knew right away that hypoglycemia was a red flag for metabolic

disease. I

> just havne't gone there with True...I figure if the endo testing

doesn't

> show anything then we can visit that option.

>

> Who do you see in Dallas for genetics? I have mito-friends there

and it

> seems like they aren't fond of their geneticist so maybe I will

tell them about

> yours.

>

> I totally agree with enjoying each day...losing a child like we

have, surely

> makes you understand the important things in life. I am just

gathering

> information right now since we don't have a dx and we JUST found

out about the

> hypoG in January. I am hoping that it wont be a drawn out

ordeal..and because

> of True's other issues, the docs are pushing for an explanation

for it all.

> It just kinda puts some of his other treatments on hold until we

know more.

>

> My policy to prevent obsessing is...I don't learn anything until I

have to.

> Like on the mito list if someone is asking about kidney

issues...we didn'

> thave them so I didn't read it...with all our kids special needs

its just too

> much to try and keep up with everything.

>

> thanks for responding! Isaac is so cute! I enjoyed getting to

meet him!

>

> deb...mom to four fab adopted kiddos... (07.04.96-05.26.03)

with

> Mitochondrial Myopathy...G, 6, with High Functioning Autism,

Hypoglycemia and

> Precocious Puberty...B, 4, with VERY mild Cerebral Palsy...and

True 1yo, with

> Neuromotor Disorder, Hypoglycemia, Myoclonus, ulcers, undiagnosed

GI problems

> plus severe food allergies (Eggs, Peanut, Milk, Soy, Corn, Rice,

Oats and

> Crab/Neocate-only), Plagiocephaly and Dysphagia....Married for 12

years to F--one

> swell guy!_ www.caringbridge.org/tn/wells/_

> (http://www.caringbridge.org/tn/wells/)

(http://www.lifeofloveproject.org/)

>

>

>

>