Possible genetic cure for Rhett's Syndrome

  1. http://news.scotsman.com/scitech.cfm?id=212332007
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    About prmenrs

    Joined: Dec '00; Posts: 12,425; Likes: 3,780
    Re-retired; from CA , US
    Specialty: 42 year(s) of experience in NICU, Infection Control


  3. by   mercyteapot
    This would be extremely good news.

    We have a disproportionately high number of girls with Rett's in this county. I know several of them.
  4. by   HM2VikingRN
    That would be cool!
  5. by   Jolie
    This development highlights the critical importance of accurate diagnosis of children with various developmental disorders. I personally know of 2 children labeled as "autistic" by their respective school districts, neither of whom actually has autism.

    One suffered a brain injury due to lack of oxygen during a surgical procedure and the other most likely has Rhett's, but lacks a definitive diagnosis due to insurance limitations.
  6. by   mercyteapot
    Jolie, any child should be able to get an accurate developmental diagnosis through the state's Department of Developmental Services. Most insurance companies specifically exclude coverage for developmental disorders for that reason.
  7. by   Jolie
    The state in which they live pays for testing only once. The parents had it done when she was only about 2-1/2 years old, leaving them with a non-specific diagnosis. She has had a number of changes in her condition since then (she is now 5) that point to Rhett's, but can't access testing again unless they pay for it out of pocket. It is unfortunate that this wasn't adequately explained to them early on in the process. But like many parents, they were so overwhelmed by the entire situation, and had no idea what to ask. They simply followed the recommendations of their pediatrician, who was not too knowledgable about the process, either.
  8. by   mercyteapot
    Jolie, I'm pretty sure that's not true. I don't mean that the parents aren't telling you what they've been told; I'm sure they are. But I'm not sure what they've been told is true. If you want to tell me what state you live in, I may be able to find out if there's some process they can access to have her re-tested. If she has Rett's, the family needs to know.
  9. by   ernurse1973
    [FONT="Comic Sans MS"] Was this child "tested" for Rett subjectively or was the MECP2 blood test done? 95% of the time a child with Rett will have a mutation that will show up on the blood test. Occasionally the mutation will not be found on the basic test, and a second test that looks for deletions should be done if Rett is still susptected. This link will take you to the International Rett Syndrome Association website's page that lists facilities that do the blood test and the cost. http://rettsyndrome.org/content.asp?contentid=516

    It is important to know that a child can still be diagnosed with Rett without the blood test being done. There is a list of criteria that need to be met to make the diagnosis (see the above website).

    Either way, there should be a way to get the correct diagnosis, but probably not through the Department of Developmental Services. The syndrome is so rare, most people there have probably never even heard of it, and the blood test is very expensive.
  10. by   mercyteapot
    If insurance is refusing to pay for the work up, the only way this child's testing will be funded is through DDS. I won't argue the competency of individual workers within individual systems, but these parents are just going to have to bite the bullet and advocate for funding. This child is legally entitled to it and in fact, DDS does have to pay for it.
  11. by   Jolie
    The diagnostic testing that was done at 2-1/2 years of age involved genetic studies on mom, dad, and child, and a comprehensive evaluation by a number of specialists including peds, neuro, developmental psych, genetics, and probably more that I'm not recalling at the moment. It was a 3 day process carried out at a teaching medical center. The parents were given a list of testing centers and allowed to choose the one they preferred.

    It's been awhile since I've talked to Mom, but as I understand it, their insurance paid for the initial genetic studies, and because of that, won't pay for anything additional. I assume that the test they would like to have done is the one that ernurse1973 mentioned above.

    They received early intervention services in the home for about a year, until the child reached her 3rd birthday. Those services were quite comprehensive (4 days/week, including speech, PT, OT, play therapy), and Mom was pleased with the progress the child made. At age 3, she began a district sponsored pre-school program, which amounts to fewer hours and less services than she received in the home. The district has limited resources in terms of money and personnel, and I doubt that the child will receive the same level of care that she received prior to age 3. The parents are considering relocating to another school district, but their finances have so far prevented them from doing so.