Chelsea's genetic appt / increased seizures again

[Guest guest]

Well, We had a consult with a local geneticist today, just to make sure I am covering all bases, now that Chelsea has a definate diagnosis. What I found out is that Chelsea's MecP2 mutation (R168X) is one of the most common Rett Syndrome mutations, but every girl with this mutation will be slightly different in presentation, even severity. The X, I learned signifies where the mutation has occurred in the process of making the MeCP2 protein, in Chelsea's, the MeCP2 protein is made in the cytoplasm of the cell, but lacks the "signal" to return to the nucleus to do it's job and turn off certain genes. Because the nervous system lacks back up genes, unlike other organ systems, it suffers the most.

We also discussed the possibility of mito issues with RS. I was quite impressed as the couselor had done her homework and found several articles about the relationship between the 2. For the most part, it appears that many girls were misdiagnosed with mito, before the RS gene was discovered. Since the discovery, more and more "atypical" cases have been discovered and some with mitochondrial defects. She explained that researchers theorize that the truncated (mismade) protein left in the cytoplasm somehow may damage the mitochondria. But more research needs to be done to find out how and why.

Since I am not planning on any more kids at this point, and have no ins, I am not going to have any testing done on my self. The chance of heredity in RS is less than 1% anyway, it is usually a sporadic mutation.

On another note, unfortunately, Chelsea's seizures have picked up again in the past few weeks. It started out as just one here and there, which I figured was from all of the holiday stress and numerous camera flashes. But she has had a lot of trouble sleeping the past week or so and is laying awake 1/2 to all nite many nites. Her seizures have really picked up in the past 2 days, so I called her neuro and her upped her Lamictal. She is now at 75mg am & 100 in the pm, plus 750mg Keppra in the am & pm. Hopefully this will help, but I fear she may be headed toward a VNS. It seems she does very well with the recent med changes and increases, will go weeks without a seizure, but then they escalate again to a point she needs more intervention.

e, Chelsea's mom, 7, Atypical Rett Syndrome (FKA nonspecific mito)

[Guest guest]

e, I was just at the neuro and was explaining to her how

there are nights when Wyatt just does not sleep. Like Chelsea he is

up 1/2 the nite to sometimes the whole nite. She told me that that

is a very common side affect to lamictal and that most of her

patients have that problem. She wishes the drug company would put

that down as a side effect. She is thinking about switching his

dosage to a stronger dose in the morning and less at night in order

to help him sleep. But most of his seizures come in the morning now

so that is going to cause problems on that end. I know the lack of

sleep brings on the seizures also. I just wanted you to know what I

found out. Hope some of it helps.

Geri-Anne and Wyatt, Complex I

> Well, We had a consult with a local geneticist today, just to make

sure I am

> covering all bases, now that Chelsea has a definate diagnosis. What

I found

> out is that Chelsea's MecP2 mutation (R168X) is one of the most

common Rett

> Syndrome mutations, but every girl with this mutation will be

slightly

> different in presentation, even severity. The X, I learned

signifies where the

> mutation has occurred in the process of making the MeCP2 protein,

in Chelsea's, the

> MeCP2 protein is made in the cytoplasm of the cell, but lacks

the " signal "

> to return to the nucleus to do it's job and turn off certain

genes. Because

> the nervous system lacks back up genes, unlike other organ

systems, it suffers

> the most.

>

> We also discussed the possibility of mito issues with RS. I was

quite

> impressed as the couselor had done her homework and found several

articles about

> the relationship between the 2. For the most part, it appears that

many girls

> were misdiagnosed with mito, before the RS gene was discovered.

Since the

> discovery, more and more " atypical " cases have been discovered and

some with

> mitochondrial defects. She explained that researchers theorize that

the truncated

> (mismade) protein left in the cytoplasm somehow may damage the

mitochondria.

> But more research needs to be done to find out how and why.

>

> Since I am not planning on any more kids at this point, and have no

ins, I

> am not going to have any testing done on my self. The chance of

heredity in RS

> is less than 1% anyway, it is usually a sporadic mutation.

>

> On another note, unfortunately, Chelsea's seizures have picked up

again in

> the past few weeks. It started out as just one here and there,

which I figured

> was from all of the holiday stress and numerous camera flashes. But

she has

> had a lot of trouble sleeping the past week or so and is laying

awake 1/2 to

> all nite many nites. Her seizures have really picked up in the

past 2 days, so

> I called her neuro and her upped her Lamictal. She is now at 75mg

am & 100

> in the pm, plus 750mg Keppra in the am & pm. Hopefully this will

help, but I

> fear she may be headed toward a VNS. It seems she does very well

with the

> recent med changes and increases, will go weeks without a seizure,

but then they

> escalate again to a point she needs more intervention.

>

> e, Chelsea's mom, 7, Atypical Rett Syndrome (FKA

nonspecific mito)