Discussions By Condition: I cannot get a diagnosis.

the docs wont test me.... help

Posted In: I cannot get a diagnosis. 1 Replies
  • Posted By: Anonymous
  • August 24, 2008
  • 09:32 PM

my mum is spina bifida and got told when she had me and my brother there was a 50/50 chance we could get it, well i've had back problems since i was about 8 now as i've got older they have got worse the base of my back is swollen and i have a funny coxes it has a big dimple at the top of it, i've asked to be tested so many times but all they say is its because i sit down to much!! it gets me so angry any ideas for what i can do?

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  • I sympathise with you. My own daughter was born with spinal issues.. her back looked wrong (dimple was wrong) and when i took her to doctors about it (two different doctors) they both told me it was cause she was breech birth, that the lump would go down and that there was nothing wrong with her back. It took 6 weeks before a doctor (the third one) .. realised yes there was something very wrong with her back.. doh!!! (it was as clear as day to me!! how could they not notice an obvious issue? esp when she had other birth defects they knew about eg clubfoot/talipes). Turned out not only is her back like fused in places but she was also missing the lower part of her spine. Xrays showed she had a problem caused "caudal regression syndrome" also known as sacral agensis. When people ask me about it.. i just say it's similar to spinal bifia as it's the best way for me to describe it as it causes similar symptoms (she's incontient, was in wheelchair for much of her childhood etc). Both spina bifida and sacral agensis (my daughters condition) can be caused by lack of folic acid. In my daughters case this is due to a polymorphism I have (MTHFR polymophism which about 10% of population has..if you have it, you should be taking cetain supplements) in which I cant absorb folic acid well. Im telling you this in case it turns out that you dont have spina bifida but instead have sacral agenisis and maybe a genetic issue with folic acid absorption going on in your family. As your mother has spinia bifida (which is known to be caused by folic issues), i think it's important for you to ask your doctor for a MTHFR polymorphism test (which can be part of "thrombilia genotypes" test). http://en.wikipedia.org/wiki/Sacral_agenesis
    taniaaust1 2267 Replies
    • August 25, 2008
    • 04:08 AM
    • 0
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