Chelsea has atypical Rett's

[Guest guest]

The more I have been reading about this condition, the more I am convinced that she has it. The most frustrating part is I learned about Rett's 5 years ago, just about the time Chelsea got the mito dx. Her former neuro said there was NO WAY she could have Rett's because she does not wring her hands incessently (a very typical feature of classic Rett's). I was told by other proffessionals the he KNOWS Rett's and can dx a girl with it just from her med. file. At that time the gene responsible for Rett's was just discovered and there was not test for it, just clinical criteria.

The Shriner's neuro was never convinced she had mito, because she does not have multiple organ system involvement, and her MRI has shown white matter issues, which he has not typically seen with mito, but with white matter diseases, like leukodystropies. He said in the last few years, more and more atypical cases of Rett's (and Angleman's) have been dx'd thru the gene testing. I have read with this test, there is very little error. The good news is Rett's is no longer considered a progressive illness, but a neurodevelopemental disorder. Barring any serious complications with her epilepsy or dysphagia, Chelsea should survive well into adulthood.

After 4 yrs of being on this list, I have met so many wonderful and strong people who have inspired and uplifted me. I don't think I could have gotten thru that 1st year after her mito dx without 'here'. That has been the hardest part, for me, about this whole issue. I felt like a part of a community and I belonged somewhere. Now, I have to start all over.

Not that I plan on forgetting any of you and the beautiful children that struggle with this mito. I will pray for all of you everyday, and help out when I get a chance. At least much more is known about Rett's and there in more public awareness.

Thank you to those of you who responded, as always, your kind words rally me when I feel the most lost. And, Dawn, yes ther are many striking similarities betwwen mito and Rett's, even down to inconsistent metabolic abnormalities. I will not be the leat bit surprised if Chelsea has secondary mito complications. Most Rett's girls have a normal period of developement from 6 to 18 mos, Chelsea is atypical in that she showed sx very early, at 4 to 5 mos. Her blood work at 7 mos also vaguely pointed to mitochodriapathy, but was considered "essentially normal".

I am going to hang around for awhile, I hope that is ok, but will probably sign off soon and find a Rett's list. If anyone wants to know more about Rett's and Chelsea, or just want to gab, feel free to contact me anytime. jayvelde@...

My best to you all and many, many blessings=)

e, Chelsea's mom, atypical Rett's Syndrome

[Guest guest]

Hi e,

This is very strange... I just joined this group with in the last month or so... my daughter also has a diagnosis of Atypical Rett syndrome for about 5 yrs now... but first at the age of 18 months doctors diagnosed her with Angelman Syndrome...

I would like to talk to you... has she been tested for the mutation?... Has she had genetic testing for AS and RS?... there is alot of overlap of the two syndromes...

My daughter does not handwring either... she pin rolls... which is just another way of saying she is always rubbing her fingers together... typically seen in people with parkinsons... not RS... but RS isn't exclusively a girl thing anymore...

If you'd like to talk give me a shout...

Netty mom to Akasha 15yrsjayvelde@... wrote:

The more I have been reading about this condition, the more I am convinced that she has it. The most frustrating part is I learned about Rett's 5 years ago, just about the time Chelsea got the mito dx. Her former neuro said there was NO WAY she could have Rett's because she does not wring her hands incessently (a very typical feature of classic Rett's). I was told by other proffessionals the he KNOWS Rett's and can dx a girl with it just from her med. file. At that time the gene responsible for Rett's was just discovered and there was not test for it, just clinical criteria.

The Shriner's neuro was never convinced she had mito, because she does not have multiple organ system involvement, and her MRI has shown white matter issues, which he has not typically seen with mito, but with white matter diseases, like leukodystropies. He said in the last few years, more and more atypical cases of Rett's (and Angleman's) have been dx'd thru the gene testing. I have read with this test, there is very little error. The good news is Rett's is no longer considered a progressive illness, but a neurodevelopemental disorder. Barring any serious complications with her epilepsy or dysphagia, Chelsea should survive well into adulthood.

After 4 yrs of being on this list, I have met so many wonderful and strong people who have inspired and uplifted me. I don't think I could have gotten thru that 1st year after her mito dx without 'here'. That has been the hardest part, for me, about this whole issue. I felt like a part of a community and I belonged somewhere. Now, I have to start all over.

Not that I plan on forgetting any of you and the beautiful children that struggle with this mito. I will pray for all of you everyday, and help out when I get a chance. At least much more is known about Rett's and there in more public awareness.

Thank you to those of you who responded, as always, your kind words rally me when I feel the most lost. And, Dawn, yes ther are many striking similarities betwwen mito and Rett's, even down to inconsistent metabolic abnormalities. I will not be the leat bit surprised if Chelsea has secondary mito complications. Most Rett's girls have a normal period of developement from 6 to 18 mos, Chelsea is atypical in that she showed sx very early, at 4 to 5 mos. Her blood work at 7 mos also vaguely pointed to mitochodriapathy, but was considered "essentially normal".

I am going to hang around for awhile, I hope that is ok, but will probably sign off soon and find a Rett's list. If anyone wants to know more about Rett's and Chelsea, or just want to gab, feel free to contact me anytime. jayvelde@...

My best to you all and many, many blessings=)

e, Chelsea's mom, atypical Rett's SyndromePlease contact mito-owner with any problems or questions. Post your free ad now! Yahoo! Canada Personals