My sister has just been told at 20 weeks pregnant that her baby has achondroplasia and that the drs will do another scan on Thurs to confirm the diagnosis but that they are recommending a medical termination. My sister and her husband are both healthy and have had 3 healthy children previously. This seems a scary diagnosis out of nowhere and after googling the disease (naughty I know as googling almost always makes these situations worse) it seems that lots of people live with anchondroplasia and that it affects height only, doesn't affect intelligence etc. I'm not sure why they'd be so keen to abort the baby if this is what's wrong with the little one. Does anyone have any experience of this as we're all panicking like anything. The thought of a pregnancy just having to be terminated is horrific to my poor sister. Sorry if this topic upsets anyone
Can you find any support groups out there who may be able to put her in touch with someone experienced in the condition, who can talk them through all the pros and cons and help her make an informed decision as to what is right for them? I know there are groups for parents with Downs etc, so I would have thought there may be something for children with this condition also, may be worth a try.
Get your sis to write down all the questions she wants to ask before the next appointment - Are they absolutely sure, not a probability? What signs point to this diagnosis? Are there other tests they can do? etc.
Didn't want to leave this unanswered, the most I know is from home and health documentaries so not great! However, there are many living with this and having very successful lives. However, they often have health problems and need operations and lots of hospital check ups.etc Which can of course be stressful!
A termination seems extreme? I've no experience of this but there's a channel 4 series called born to be different that has followed 8? children with various disabilities for the last 10-11 years and one boy has achindraplasia. Apart from obviously being small he seemed a perfectly happy normal boy doing normal boy stuff. From what I remember his family emigrated to new Zealand but he was in mainstream school and although there was the obvious teasing that's gonna happen he seed to have a good set of mates n they were just cracking on with life
http://en.wikipedia.org/wiki/Achondroplasia - there's a link to a UK support charity on that page.
If a child has one copy of the mutant gene, they have achondroplasia and generally live fine, just short arms and legs. I worked for a bit for a scientist with it - lots of extra kickstools in the lab!
However if the baby has two copies of the gene, then the chances of surviving long after birth are roughly nil and I'd hope that's the only reason they're suggesting termination. If that's the case then I can only offer much sympathy to your family.