Has anyone got a child with retts syndrome? Id like 2 chat and get some advice! We have just got our daughters results bk.. Mri came bk normal but she had blood tests done and they have found a rare faulty gene thats close to retts syndrome. I dont really understand it all 2 be honest and wud like some advice, we are waiting for an app to c the geneticist and me and my partner are havin the blood tests done to c if we carry or have the faulty gene! Im so worried and scared. She is 11months old and is still practically like a newborn. She cant sit up or hold her head up for long periods, she is not smilin and is very undemanding. She hardly cries and suffers from seizures. Can any1 help me? Wud be really good 2 chat. She's my beautiful baby.

Hi my friend has rencently had her daughter diagnosed with Rett syndrome. The link below is the place to find support and help. I have limited info on what she and her family have been through (she has chosen not to sign up to this website) so I can try to relate what I know but the website might offer more first hand experience

Maria

http://www.rettuk.org/rettuk-public/rettuk.html

Hi, I just posted looking for someone who had been through this. My daughter is 2, and seems to have severe Autism. Saw the specialist the other day (finally!), and he has put her forward for an assessment, but in the meantime he wants to test her for Rett Syndrome. From what I have read, it is genetic but not hereditary. Something to do with the chromosomes when the foetus is forming, rather than whether the parents are carriers. I might be totally wrong though lol. I really hope you get all the help and advice you need, and you can always message me if you fancy a chat x

hi tan. you may remember me posting you a reply a while ago about my son alfie. Alfie was initially tested for retts syndrome although he's a boy and its almost exclusive in girls. His tests came back as him having MECP2 duplication syndrome an extemeley rare genetic disorder he is one of only 120 boys in the world with it but it is in the same area as retts but were retts is a chromosme deletion alfies is a duplication. i also had to be tested and came back as a carrier so i totally understand your axiety. please feel free to contact me to chat x

Hi tan
My daughter was recently diagnosed with Retts july last year. She sounds a little similar to your little girl. We went through a very similar proess to you with regards to the investigation etc. If you want to get in touch to talk more about it, i would be more thatn happy to share our expereinces so far.