Joined: 05 October 2007 United Kingdom Posts: 31 Gender: Female
Posted: 25 July 2008 at 3:34pm | IP Logged
hi people havent been on for a while but i am back, a few months ago i wrote on here saying that my daughter has been delayed in everything and was worried, u were all gr8 , i have now been to the hospital and she has been diagnosed with chromosome depletion 9p syndrome (alfi syndrome) just wondered if any of you had heard of it xx
Joined: 29 June 2005 United Kingdom Posts: 2364 Gender: Female
Posted: 25 July 2008 at 4:06pm | IP Logged
hiya and good to see you back,sorry to hear about your daughters condition,im pleased you have had it diagnosed though and can now take necessary steps to help her,unfortunately ive not heard of this before so am unsure as to any advice etc,but wish you luck and best wishes,xxxxx
Joined: 05 October 2007 United Kingdom Posts: 31 Gender: Female
Posted: 25 July 2008 at 4:13pm | IP Logged
hello thanks for writing back, i have been on a couple of sights but unfortunatley this syndrome is really rare it happens to about 1 in 5 million babies and unfortunatley most cases are in america. will have to see what the genetisist team have to say but until then i am sure i will be on here again having a whinge lol. thanks again xx
Joined: 05 October 2007 United Kingdom Posts: 31 Gender: Female
Posted: 25 July 2008 at 7:29pm | IP Logged
no not really all they have said is that she will be delayed in everything she does she will always be small and always need special needs support, because she has some dismorphic features they may do surgery if its required and thats about it . basically told me to go home and google it coz they dont really no alot about it, all the children have a similar look to downs syndrome and my daughter has every aspect of the syndrome other than the heart defect so i have been quite lucky there.
just frustrated coz it all seems to be about waiting to see how delayed she will become and what her abilities will be, i have hospital on the 29 july so i am hoping to get some more answers.
Joined: 11 September 2007 United Kingdom Posts: 2913 Gender: Female
Posted: 25 July 2008 at 7:55pm | IP Logged
Awww hun it must be a really confusing time for you.... i hope the appointment you have coming up can shed some more light on what the future might hold for you hun
Joined: 05 October 2007 United Kingdom Posts: 31 Gender: Female
Posted: 31 July 2008 at 9:59am | IP Logged
hi everyone, my daughter now has a placement at a special needs nursery and they are going to work on her getting some muscle tone in her body as she is very floppy, they have never seen this condition either and are all at a loss as what they can tell me, i am hoping that the genetisist will be in contact soon so i can get some answers, thanks again to zanynut for finding me two gr8 sights where i am talking to some people in america who have chidren with the same condition speak soon xxx
Joined: 11 September 2007 United Kingdom Posts: 2913 Gender: Female
Posted: 31 July 2008 at 10:11am | IP Logged
Awwww hunny i'm glad you've managed to make contact with some other mum's who have this condition as it must be mind blowing and so difficult to comprehened.
It's fanstastic that she has a placement so quickly and they are already setting about a plan of action. Maybe the uk site might be of help for them and a source of information?
Fingers crossed about the Genetisist hunny, hope they don't keep you waiting too long.
Joined: 11 June 2005 United Kingdom Posts: 5990 Gender: Female
Posted: 31 July 2008 at 12:27pm | IP Logged
Hi, I hope you got on well at the hospital. Unfortunately some chromosome abnormalities are really rare. My niece has a condition called 2q- this is a deletion of part of her 2nd chromosome. There has only been one other reported case in the world and that was in america. My sil is a member of http://www.rarechromo.org/html/home.asp and has found it helpful to speak to other parents of children with rare chromosome disorders. My neice is now 17 years old and has just passed her level 1 city and guild numeracy course. She also suffers from poor muscle tone but is otherwise fit and well and just like most teenage girls her age.
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Topic: Alfi syndrome
