Re: VNS/uncontrolled seizures/RS & mito

[Guest guest]

,

Hi! My daughter was previously dx'd with a nonspecific mitochondrial disease, based mostly on her clinical symptoms. This past summer, a blood test revealed she has the MeCP2 gene mutation causing Rett Syndrome. I have been wondering if Chelsea may also have mito issues, but have not gotten any concrete answers yet.

How old is your daughter now? What sort of testing has she had done? Who does she see for Drs? Has she seen any mito or RS specialists? Would you mind telling me a little about your daughter and how she is now? Is she on any of the cocktail? Sorry for all of the ?'s, it is just very interesting to finally be able to talk to someone who is dealing with both.

As for the VNS issue, I am not sure I can be of much help. Chelsea has had a difficult epilepsy as well, but never has had seizures on a daily basis chronically. Currently things are well controlled on Keppra & Lamictal, but she is still having some sporadic activity with no cause, which usually means she may need a med increase. Both her neuros have said a VNS will be considered, if meds continue to fail. I had originally read at the IRSA website that the VNS was not recommended for RS girls because of the breathing dyspraxia, which the vegas nerve is involved in. I guess that opinion has changed, and now there is info coming from the RS conferences that there has been good success with the VNS and RS, in terms of seizure control and improvement in dystonia and ANS symptoms.

Please feel free to ask me anything! I hope all my ?'s aren't too intrusive. You can reply to me on the mitolist, or privately at jayvelde@... Looking forward to hearing from you=)

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

[Guest guest]

,

Hi! My daughter was previously dx'd with a nonspecific mitochondrial disease, based mostly on her clinical symptoms. This past summer, a blood test revealed she has the MeCP2 gene mutation causing Rett Syndrome. I have been wondering if Chelsea may also have mito issues, but have not gotten any concrete answers yet.

How old is your daughter now? What sort of testing has she had done? Who does she see for Drs? Has she seen any mito or RS specialists? Would you mind telling me a little about your daughter and how she is now? Is she on any of the cocktail? Sorry for all of the ?'s, it is just very interesting to finally be able to talk to someone who is dealing with both.

As for the VNS issue, I am not sure I can be of much help. Chelsea has had a difficult epilepsy as well, but never has had seizures on a daily basis chronically. Currently things are well controlled on Keppra & Lamictal, but she is still having some sporadic activity with no cause, which usually means she may need a med increase. Both her neuros have said a VNS will be considered, if meds continue to fail. I had originally read at the IRSA website that the VNS was not recommended for RS girls because of the breathing dyspraxia, which the vegas nerve is involved in. I guess that opinion has changed, and now there is info coming from the RS conferences that there has been good success with the VNS and RS, in terms of seizure control and improvement in dystonia and ANS symptoms.

Please feel free to ask me anything! I hope all my ?'s aren't too intrusive. You can reply to me on the mitolist, or privately at jayvelde@... Looking forward to hearing from you=)

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