1. Joined
    30 Dec '04
    Moves
    60084
    23 Mar '12 21:50
    Hi,

    I was wondering if anyone here had any personal experience with this diagnosis ( fragile X syndrome).

    My nephew was diagnosed with this about a year ago. He is now 5 years old. It was obvious from birth that there was something wrong but the diagnosis took awhile to get.

    I guess if there were a spectrum he would be on the severe end. He has no control over his muscles. He can not sit up , roll over, support his head etc.












    He is happy child. Laughs when he is tickled or hears a familiar voice, and loves loud music. They say he can see however he can not track or follow you.

    He gets fluid in his lungs quite often and has to spend time in the hospital.

    I don't mean to sound morbid but I have been curios about the life expectancy for someone with this diagnosis.





    I was just wondering if anyone had some personal experience they can share.
  2. SubscriberAThousandYoung
    West Coast Rioter
    tinyurl.com/y7loem9q
    Joined
    23 Aug '04
    Moves
    24791
    24 Mar '12 00:09
    No personal experience, but it seems to be caused by the lack of a particular protein. Maybe that protein can be injected or something?

    http://www.intelihealth.com/IH/ihtIH/WSIHW000/9339/9603.html
  3. Joined
    30 Dec '04
    Moves
    60084
    24 Mar '12 00:47
    Originally posted by AThousandYoung
    No personal experience, but it seems to be caused by the lack of a particular protein. Maybe that protein can be injected or something?

    http://www.intelihealth.com/IH/ihtIH/WSIHW000/9339/9603.html
    Thanks,

    Any info will help.

    The dad deals with it by pretending nothing is wrong, the mom has some of her own personal obstacles so it is hard to get 'medical' info from her.

    There is a lot of literature out there on it , but I'll be the first to admit I can only follow the 'medical jargon so far'.

    I believe he has 5 deletions on one chromosome (the 15th) , and one extra on another (the 16th).

    It may be called something like 'mutation xr'

    Thanks again.
  4. Joined
    31 May '06
    Moves
    1795
    25 Mar '12 13:53
    Originally posted by boonon
    Thanks,

    Any info will help.

    The dad deals with it by pretending nothing is wrong, the mom has some of her own personal obstacles so it is hard to get 'medical' info from her.

    There is a lot of literature out there on it , but I'll be the first to admit I can only follow the 'medical jargon so far'.

    I believe he has 5 deletions on one chromosome (t ...[text shortened]... on another (the 16th).

    It may be called something like 'mutation xr'

    Thanks again.
    One place that you might consider going for information is the SGU ( Skeptics Guide to the Universe)

    http://www.theskepticsguide.org/

    Where the host is this guy http://www.theskepticsguide.org/bios.aspx?stevennovella

    Who is a neurobiologist and might know (or be able to find out) what the current state of knowledge is around
    this condition.

    I would send a question into the show http://www.theskepticsguide.org/contact.aspx
    and ask if they know/can find out about the disease and what treatments (if any) exist or are in the pipeline.

    I can't guarantee of course that they will respond to your question (they get lots and only respond to some of them)
    but if they do Steve is an expert in this field and has access to and can understand the scientific journals in this area
    if he isn't up to speed on this particular disorder already.

    The SGU is worthwhile listening to anyway, but they might be able to help you find out more about this condition.
  5. Joined
    30 Dec '04
    Moves
    60084
    25 Mar '12 14:40
    Thank you.
  6. Joined
    31 May '06
    Moves
    1795
    25 Mar '12 17:43
    Originally posted by boonon
    Thank you.
    No problem.

    Also as an addendum there is a little bit on the topic on the NeuroLogica blog here

    http://theness.com/neurologicablog/index.php/abnormal-neural-networks-in-autism-and-fragile-x/#more-237

    It's from 2007 and doesn't deal with fragile x exclusively but it still might be of interest.
  7. SubscriberKewpie
    since 1-Feb-07
    Joined
    20 Jan '09
    Moves
    316861
    26 Mar '12 08:221 edit
    from an information site:

    "Do children with fragile X syndrome have medical problems?
    Most children with fragile X syndrome do not have serious medical problems and generally have a normal life span. However, about 15 percent of affected boys and about 5 percent of girls develop seizures, which often can be controlled with medication (5). Children with fragile X syndrome may be at increased risk for chronic inner ear infections and may need to have tubes placed in their ears (5).
    Children with fragile X syndrome may have heart murmurs that often are caused by a condition called mitral valve prolapse (5). This condition usually is not life-threatening and, in most cases, does not require treatment. "

    http://www.marchofdimes.com/baby/birthdefects_fragilex.html has quite a lot of other information available.
  8. Cape Town
    Joined
    14 Apr '05
    Moves
    52945
    26 Mar '12 13:15
    Originally posted by boonon
    The dad deals with it by pretending nothing is wrong, the mom has some of her own personal obstacles so it is hard to get 'medical' info from her.
    In cases of chronic illness in a child, the parents often need help and 'treatment' almost as much as the child. As well as researching information to help the child, also try to think of ways to help the parents. Being a parent of a normal child is hard enough, dealing with extra issues an lead to us creating a blind spot around it etc (as you say the dad does). There is also a danger of parents desperately going for 'alternative medicine' solutions and throwing logic out the window.
  9. Joined
    30 Dec '04
    Moves
    60084
    26 Mar '12 18:55
    Originally posted by Kewpie
    from an information site:

    "Do children with fragile X syndrome have medical problems?
    Most children with fragile X syndrome do not have serious medical problems and generally have a normal life span. However, about 15 percent of affected boys and about 5 percent of girls develop seizures, which often can be controlled with medication (5). Children with fr ...[text shortened]... rchofdimes.com/baby/birthdefects_fragilex.html has quite a lot of other information available.
    Thank you.
  10. Joined
    30 Dec '04
    Moves
    60084
    26 Mar '12 19:03
    Originally posted by twhitehead
    In cases of chronic illness in a child, the parents often need help and 'treatment' almost as much as the child. As well as researching information to help the child, also try to think of ways to help the parents. Being a parent of a normal child is hard enough, dealing with extra issues an lead to us creating a blind spot around it etc (as you say the da ...[text shortened]... ts desperately going for 'alternative medicine' solutions and throwing logic out the window.
    Yes, good advice.

    He does go to a special center for a few hours a day. This not only helps him but it gives the mom a few hours to herself.

    Thanks.
Back to Top