Achondroplasia? Any experience?(7 Posts)
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
I can't believe they have told her to have a termination. My friend had a baby in 2004 who was diagnosed with Achon. Yes he had problems early on like fluid so he had a shunt put in,that is fine now. He has had no problems anywhere else i.e heart kidneys. He did have a sleep study done for baby apnea and grommitts. He was slightly late on milestones didn't walk until he was 2 1/2 because he was top heavy. He has short limbs and a large head and although he can talk it isn't very clear because of the opening at the back of the throat. Other than that all is fine with him he is in mainstream school and has speech therapy once a week. There are lots of groups for achon aswell.
They have obviously had to adapt the house for him i.e lower the light switchwitches and sinks but you get help through grants with that.
Hope the scan is ok on thursday. Keep us posted.
I know someone whose brother has this. The brother is now a paediatrician!
Google Tom Shakespeare and look at his wikipedia entry. He is a very learned gentleman with restricted growth and writes some great articles.
I would be very surprised and disappointed if a doctor recommends a termination. But then I would also feel the same about terminating any child with a disability without discussion of the other alternative - letting them live - and the very real possibilities of a good life. Letting them know their options and recommending they think about it would be more appropriate I think.
Morning Leannac, (sorry for the long post)
I'm currently going through something similar to your sister and first off i want to say Ive never been recommended a termination (and also Achondroplasia isnt a disease its a genetic disorder).
So a quick overview... 12 week scan NT result of 5.3mm, 1:3 chance of downs, CVS resulted in a normal result e.g. no known chromosome disorders.
16 week scan looked ok but because of the high NT something could still be wrong.
20 week scan showed up short bones and an unusual looking belly and some kind of skeletal dysplasia was diagnosed including Achon, referred to John Radcliffe (from Royal Berks) for 2nd opinion.
21 week scan at JR, saw a consultant, a heart specialist and a geneticist. Consultant confirmed short bones and unusual looking belly, heart specialist confirm heart was normal, the geneticist said they do more tests on my CVS for Achon.
End of week 21 I got a call from the geneticist to say they cant get a result from the CVS material, do I want an amniocentesis? I said no, by now Id done some googleing and had found out that Achon is the commonest form of short limb dwarfism and life expectancy and intelligence are both normal and that was good enough for me to decided that I would not terminate for this condition. (I learnt that its my decision to terminate up to 23 weeks and after that you can have a termination but it has to be very serious and is only recommended by a professional, Achon isnt on the list of things they terminate after 23 weeks)
27 week scan (yesterday) things are still up in the air, we still dont know whats wrong, the baby still has short limbs but they are growing, the heart is still in proportion to the chest size, however I now have lots of amniotic fluid, so have an increased chance of going into premature labour (Im now on drugs to help reduce the risk). So we still dont know if its Achon (which isnt lethal) or any number of other skeletal dysplasia conditions which could be lethal.
So to your sister There is a definite test for Achondroplasia (via amniocenties), is this where the diagnosis has come from or is it from just a scan? If it was me and Id been recommended a termination (which I havent, Ive been asked a couple of times if Im progressing with the pregnancy to which Ive said and yes and no one has questioned that decision) I would want to know beyond doubt that the quality of life of that child would be severely limited (incompatable with life) before I make that decision.
As with everything it depends on your circumstances, I decided early on (about the time I started feeling movement) that I wanted to keep my baby and I and my family (this will be my first) would love this baby whatever the circumstances.
Two websites I found useful were - www.achondroplasia.co.uk and www.restrictedgrowth.co.uk
My heart goes out to your sister and I hope by sharing my experiences your sister can go to her next scan with some questions that will help her make a decision.
Iv joined this site just to anwser this post.
I am 28 with 3 children & 4th on the way. My little girl tia was born with achondroplasia in 2005. It was never picked up.on any scan so I was not aware of it at all. My pregnancy was fine, my labour was a perfect home birth.
I noticed tias legs where smaller than my two boys had been at birth so I mentioned it to my midwife the next day. She sent me to the hospital where the consaltant just thought she was short like myself but to be sure blood tests would need to be done.
Anyway to cut a long story short they came back as achondroplasia.
It was a shock but I was determined to be positive.
Toa has regular mri scans at gosh but has never had any problems.
She was walking by 12 months & is the happiest little girl you could meet.
She is extremly popular at school.is above average in her class & is very independant.
I would not change her for the world she is my mini me .
I know that alot of the sites are quite scary so if your sister would like any info from a parent just message me back & im more than happy to talk to her or anyone who reads this post
Take care x
My 6-month-old son has just been diagnosed with achondroplasia. I'd noticed he had shorter legs and was much shorter and lighter than kids his age (and even younger) but the diagnosis still came as an enormous shock for my husband and me (two 'ordinary' size people). I can't deny I'm worried about his future enormously, but feel more encouraged when I read different posts about the condition. The medical side of stuff scares me; the social side scares my husband more. One thing I'm scared about is the fact that we've only found out about this now. I'd been to the doctors numerous times with concerns about his height/weight, tugging in his chest when he breathes and a pretty much constant eye infection since birth, but each time I was sent away with 'we'll monitor his weight', 'try bottle feeding', repeat prescriptions for eye drops and the feeling that I was being a paranoid mum. I'm worried that there's things we should have been doing since birth for his condition that we haven't been doing, and that we've made the chances of him being in pain later on worse (i.e. sitting him up to chat to him, using a baby bouncer etc etc). It's a horrible thought. We've now got to wait for a genetics appt but god only knows when that'll come through. In the meantime, I feel a bit 'left to it', and with no expertise on the condition, I'm still scared I'll do something wrong. Any info people can give us would be fab. And toys -- particular toys that will provide enough stimulation now we've had to veto the door bouncer and bouncy chair! Thanks all xx
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