I have spoken with my sister and she is happy for you to email her. I have PM'd you with her email address. Let me know if you need anything else or if there is anything I can do.
From the future pregnancies point of view you may want to find out about IVF with PGD, which is where they test few-day-old embryos, and only put the ones that don't have the dodgy gene back in to Mum.
Test development may be long and expensive for a rare disease (for my dodgy gene it was several years) - but it may also be simple, it really depends on the gene.
Best wishes to you and your family
hugs
Kate
Wow Mother goose, your poor sister...
We have contacted the foundation and they are willing to answer questions we have and they are pretty fast at getting back to us, but it would be great to chat via email with your sister as she has lived through it.
At this stage we have not done any tests on Toby ( CT, MRI or kidney's) as we just found out last week and trying to do as much research as possible and take it step by step.
That is bizzare how nobody in your family has it, as it usually carried down from a parent. We have read that if we have another baby, there is a 50% chance it will get the syndrome that Toby has.
KNM- Im not sure I could do the IVF as I dont think they know the gene that causes this syndrome thats why they cant test for the Dominant form.
Thanks girls for your help, Im still trying to process this all. A bit in denial actually, thinking that my boy couldnt have this but i guess its all part of the process..
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$$. But she's a pretty cool "kid" and open about her condition. She has only recently gotten hold of some of her info so, like you, is still going through a bit of her own research. But she can certainly tell you what it's like to grow up with it!
And if you need anything, don't feel shy about contacting me.
Having two parents who do NOT have the gene is really common in Robinow syndrome. The change to the gene that causes the condition might have just happened when the egg and sperm got together or when either the egg or sperm (just one of them) was being made.
I know the diagnosis is really early, but when you are ready to discuss the genetics and the chance of future children having the condition make an appointment with a genetic counsellor who can answer your questions.
Did your husband know that he had this condition before now?
No my husband had NO idea!
It was a big shock to him. We looked on the foundation website, and my husband and son look nothing like the people with this condition.
They genetisis recons Toby and my husband both have eyes wide apart, big head circumference. Tobys is 97th percentile, but his height and weight are in the 90's as well so I would of thought he was in proportion. Their little toes turns outwards, and a few little other things.
I live in W.A and there are only 7 genetisis here and from what I can tell they liase with eachother. What if I wanted a second opinion? Does anyone know if I could go to a genetic counsellor and post my concerns?
Registered User
). She will tell you about her life and experiences. As her big sister (and the person who practically raised her), I'll tell you she is an A Grade pain in the A$$. 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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