Re: Got a phone call last nite. . .

[Guest guest]

That must have been a surprise, however no matter what the diagnosis

is we are all dealing with the same problems- meds, docotors, school,

etc. The problems are the same and the group will still be here to

help.

Geri-Anne and Wyatt, Complex I

> My head is still spinning.

> The neuro we have been taking Chelsea to at Shriner's Hospital in

Chicago

> called last nite. He told us she has the gene mutation for Rett's

Syndrome. I

> spoke to him briefly, and he feels she has an atypical presentation

of this

> condition. He said metabolic abnormalities are secondary with

Rett's.

> After living with the mito dx for 5 years, I just don't know what

to think! I

> feel like I have to start all over again, and it is very

frustrating!

> We will be seeing her regular neuro tomorrow, and hopefully he will

have

> received the info from the Shriner's dr, and have some insight for

us.

> Have to go for now. . .

>

> e, Chelsea's mom (?)

[Guest guest]

-Oh, e...

(((((((((((((hugs)))))))))))))))

I'm sorry about Chelsea's diagnosis. It's so hard hearing anything

new. Do you have help at home? Nursing or PCA's? With a RETT's

diagnosis it may be easier to get more help at home. Are you hooked

into any services- DPH, DMR?

My son has aspergers and he gets tons of suppoet from DMR. There's

more out there for spectrum disorders than for a standard MR or

global delay diagnosis, at least in our area (western MA).

Take care

Heidi, 's Mom

www.caringbridge.org/ma/heather

-- In Mito , jayvelde@a... wrote:

> My head is still spinning.

> The neuro we have been taking Chelsea to at Shriner's Hospital in

Chicago

> called last nite. He told us she has the gene mutation for Rett's

Syndrome. I

> spoke to him briefly, and he feels she has an atypical presentation

of this

> condition. He said metabolic abnormalities are secondary with

Rett's.

> After living with the mito dx for 5 years, I just don't know what

to think! I

> feel like I have to start all over again, and it is very

frustrating!

> We will be seeing her regular neuro tomorrow, and hopefully he will

have

> received the info from the Shriner's dr, and have some insight for

us.

> Have to go for now. . .

>

> e, Chelsea's mom (?)

[Guest guest]

e, You must be in total shock. I have a friend who was going through the whole diagnosis process with me. The doctors had such a hard time diagnosing her daughter! Then they discovered new genetic mutations for Rett's and she was finally diagnosed last year. My friend has received so much help and information from the Rettnet (sp?) website. There seems to be more known about Rett syndrome than mito. Take good care,

Lori and (complex I and IV)

Got a phone call last nite. . .

My head is still spinning.

The neuro we have been taking Chelsea to at Shriner's Hospital in Chicago called last nite. He told us she has the gene mutation for Rett's Syndrome. I spoke to him briefly, and he feels she has an atypical presentation of this condition. He said metabolic abnormalities are secondary with Rett's.

After living with the mito dx for 5 years, I just don't know what to think! I feel like I have to start all over again, and it is very frustrating!

We will be seeing her regular neuro tomorrow, and hopefully he will have received the info from the Shriner's dr, and have some insight for us.

Have to go for now. . .

e, Chelsea's mom (?)Please contact mito-owner with any problems or questions.

[Guest guest]

>

> e, Chelsea's mom (?),

Is Rett linked to Mito? I read the info and boy does alot of it

sound just like mito.Just curious, Dawn

[Guest guest]

I am sure this is quite a shot for you. I hope you are able to get

more accurate help for her now that you have a firm diagnosis of Retts. I

don't know anything about Retts, so am not much help there. Take care of

yourself and keep us posted.

Darla: mommy to

Asenath (4) Mito, CNS Vasculitis, strokes, migraines, seizures, G-tube,

hypotonicity, disautonomy,SID, dev. delays, asthma, chronic vomiting...

Zipporrah (10 mon.) Mito, strokes, SID, GERD, 100% G-tube fed, asthma, trach

issues, disautonomy, hypo & hypertonicity, migraines, possible seizures,

dumping syndrome...

Luke (16), Leah (14), Rachael (12), Isaac (10), Tirzah (7), Kezia (3), &

Marquis (2) (some with Mito symptoms)

Got a phone call last nite. . .

> My head is still spinning.

> The neuro we have been taking Chelsea to at Shriner's Hospital in Chicago

> called last nite. He told us she has the gene mutation for Rett's

> Syndrome. I

> spoke to him briefly, and he feels she has an atypical presentation of

> this

> condition. He said metabolic abnormalities are secondary with Rett's.

> After living with the mito dx for 5 years, I just don't know what to

> think! I

> feel like I have to start all over again, and it is very frustrating!

> We will be seeing her regular neuro tomorrow, and hopefully he will have

> received the info from the Shriner's dr, and have some insight for us.

> Have to go for now. . .

>

> e, Chelsea's mom (?)

>