Re: our gentics study at the NIH

[Guest guest]

Cindy, Thanks for sharing this information. I've forgotten exactly what this

study involved. Were they screening you for known mutations associated with

these birth defects or looking for new, previously unknown mutations? Did

all the patients in the study have mitochondrial disease? Were they looking

at mtDNA or nDNA or both?

Hope you can get in the additional study.

Barbara

> our gentics study at the NIH

>

> Just wanted to let you guys know that all of our studies for the NIH came

back

> normal. They were trying to connect our Mito disease to all the other

issues we

> have in our family........ cleft lip and palate, missing fingers, toes,

arms etc,

> structural heart issues and learning issues.

>

> There is another doctor doing a study where they paint the chromosomes and

the

> doctor we have worked with is trying to get us into this study. She feels

they are

> going to accept us, but hasn't gotten the official YES yet.

>

> Just wanted to let everyone know since so many of you have been around

since

> the beginning with us.

>

> Cindy

>

[Guest guest]

Cindy

I'll keep my fingers crossed for you. They really need to be studying

every multiply affected families as they can.

laurie

> Just wanted to let you guys know that all of our studies for the NIH came back

normal. They were trying to connect our Mito disease to all the other issues we

have in our family........ cleft lip and palate, missing fingers, toes, arms

etc, structural heart issues and learning issues.

>

> There is another doctor doing a study where they paint the chromosomes and the

doctor we have worked with is trying to get us into this study. She feels they

are going to accept us, but hasn't gotten the official YES yet.

>

> Just wanted to let everyone know since so many of you have been around since

the beginning with us.

>

> Cindy

>

>

[Guest guest]

Cindy,

Thanks for letting us know how the study results came out. As you well

know, there may still be a connection. I think it is great that you are

all so willing to help in the research area in all of this.

Cindy Hussey wrote:

>Just wanted to let you guys know that all of our studies for the NIH came back

normal. They were trying to connect our Mito disease to all the other issues we

have in our family........ cleft lip and palate, missing fingers, toes, arms

etc, structural heart issues and learning issues.

>

>There is another doctor doing a study where they paint the chromosomes and the

doctor we have worked with is trying to get us into this study. She feels they

are going to accept us, but hasn't gotten the official YES yet.

>

>Just wanted to let everyone know since so many of you have been around since

the beginning with us.

>

>Cindy

>

>

[Guest guest]

Barbara,

Our family has a significant amount of members affected with Mito (Alice is my

mother). The Mito professionals have always said that the " birth anomalies "

seen in my children were not in any way connected to the Mito. However, the

docs at the NIH think there is no way we have two totally different things going

on and feel there is a chromosome so close to the mitochondria that's causing

the birth anomalies and the Mito. We've been through the wringer as far as

tests go.

Cindy

[Guest guest]

Laurie,

I agree totally. You and I both know there's something up in our family.

Cindy

[Guest guest]

,

I'm sure there's a connection, but not so sure I'll see any answers in my

lifetime at this point. Maybe my kids will.

Cindy