It is always scary to find out our children have a medical condition. Especially a rare one. Let me share the same advice with you that I always share with my patients (I'm a nurse). Stick with the now - as tempting as it is, don't jump to the future because we just don't know what it holds. Stick with the now and deal with things as they arise.
It is very bizare that neither of my parents have the gene - but it's true. That's why they were so stumped about it all and probably why it took so long to diagnose my sister. But it wasn't wide spread in Australia at the time. I am saddened to see that there is still a major lack of support for parents and families with this condition.
Don't feel bad for my sister. Honestly, she had a pretty normal life. There wasn't really anything she couldn't do as she was growing up. Even now, her health poses no restrictions on her activities. And she knew no other life. All her surgeries were when she was pretty young. The most traumatic thing for her was probably having braces as a teenager!
FWIW, I think my parents had a lot of the imagine tests done BEFORE the Syndrome was diagnosed - mostly because they were trying to find the cause of things like her recurrent UTI's etc. But I don't think my sister has had any further tests done as she has grown. She just rolls with it. Honestly, there is no reason they can't have a normal life. Sure they might be susceptible to increased UTI's, or cardiac conditions, or pain from skeletal issues. BUT, they can still have a very normal life. Their quality of life needn't be compromised.
Do email my sister (but let me know if she needs a kick up the bum from her big sister if she doesn't reply ). She will tell you about her life and experiences. As her big sister (and the person who practically raised her), I'll tell you she is an A Grade pain in the A$$. But she's a pretty cool "kid" and open about her condition. She has only recently gotten hold of some of her info so, like you, is still going through a bit of her own research. But she can certainly tell you what it's like to grow up with it!
And if you need anything, don't feel shy about contacting me.
). She will tell you about her life and experiences. As her big sister (and the person who practically raised her), I'll tell you she is an A Grade pain in the A$$. But she's a pretty cool "kid" and open about her condition. She has only recently gotten hold of some of her info so, like you, is still going through a bit of her own research. But she can certainly tell you what it's like to grow up with it!
MG
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