What about Mitochondrial Disease. Many children first diagnosed on the Autism spectrum (which Retts is the most severe form) are later diagnosed with some form of Mitochondrial disorder.
She is now 3 years old and unable to talk or walk or even stand with help. We have had lots of tests back but still no answers. But are pediatrician thinks it is retts the same as everyone that works with her. So we have been told the next step will probably to diagnose her clinically with rett syndrome in the near future
No we are due to see one this Thursday I will ask them about this. She has had the tests done on the MECP2, which come back negative. Do you have any experiance with Retts Syndrome? If you have, could you give us some more advise and thank you for the reply.
the blood tests come back negative. But the pediatrician seems to still think it is rett's so we are seeing him in three months as he wants to see if see meets the clinical diagnosis, and then diagnos her that way. the blood tests took four months to come back.
My daughter is 11 months and she does the same hand movements as your little girl.She goes to see the pead next week.Fingers crossed they find nothing.Your daughter is so cute.
What about Mitochondrial Disease. Many children first diagnosed on the Autism spectrum (which Retts is the most severe form) are later diagnosed with some form of Mitochondrial disorder.
IknowImasd 5 months ago
Skye has been diagnosed with a rare chromosome disorder. It's is 9q 22.2-22.32
Kennyh27 8 months ago
She is now 3 years old and unable to talk or walk or even stand with help. We have had lots of tests back but still no answers. But are pediatrician thinks it is retts the same as everyone that works with her. So we have been told the next step will probably to diagnose her clinically with rett syndrome in the near future
Kennyh27 8 months ago
No we are due to see one this Thursday I will ask them about this. She has had the tests done on the MECP2, which come back negative. Do you have any experiance with Retts Syndrome? If you have, could you give us some more advise and thank you for the reply.
Kennyh27 1 year ago
Have you seen a geneticist? Make sure they test for the CDLK5 mutation which is a mutation that causes atypical rett-like symptoms.
teedog86 1 year ago
the blood tests come back negative. But the pediatrician seems to still think it is rett's so we are seeing him in three months as he wants to see if see meets the clinical diagnosis, and then diagnos her that way. the blood tests took four months to come back.
Kennyh27 1 year ago
@Kennyh27 Well, it's been a year, so does she have rett?
reidrules45 10 months ago
Are you any nearer to finding what the problem is? We are currently waiting for blood results,as my daughter is being tested for Rett Syndrome.
5566Trish 1 year ago
it took 6 months for my daughters blood test to come back. it was negative for retts syndrome
shez222 1 year ago
My daughter is 11 months and she does the same hand movements as your little girl.She goes to see the pead next week.Fingers crossed they find nothing.Your daughter is so cute.
5566Trish 2 years ago