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Advice on 1q21.1 duplication..please help

Kizzymissymoo Message
16 Aug 2011, 07:22 PM

Hi all, I am desperately worried abut my daughter. I have just moved house and have been sent her diagnosis of 1q21.1 duplication through the post. She also has Hypertension, Hyperflexability, Hypotonia and a large and miss shaped head. No body here has heard of it, and nobody seems to care how worried I am about her heart, she is on a waiting list to get a consultant here, but they do not seem to be in any hurry and nothing I say makes a difference. Can anyone out there tell me what sort of heart problems can come with this and wether her Hypertension may be connected? I can not seem to find anything I need online, websites just say heart problems but do not elbaorate, I mean are these problems serious...could I loose my baby girl? Please please if anyone out there knows anything about this or how I can make the Dr listen, please get in touch with me as I cant sleep, eat or anything right now I'm so scared. Thanks so much for reading. x
JCR7676 Message
19 Aug 2011, 10:58 PM

Hey there.... First off you sound like you could REALLY use a hug! It is so stressful having an unwell child I know but please try to be calm. While there could be symptoms of the chromosome, they can also be not present as well. I for example was found to have it after my baby was tested positive and I am just fine. My baby had a small hole in his heart that is under the watch of his cardiologist. It is closing up on its own so far and so the Dr is just observing him yearly with echocardiograms. Hypertension is high bloodpressure. You claimed the Dr's were looking at that. Just keep an eye on her with it. Are you in the UK?
Kizzymissymoo Message
9 Dec 2011, 03:34 PM

Sorry I took so long to reply..its been mayhem! Thanks for the hug, I really needed that. I have got over the shock now and things are progressing slowly, Kizzy now can walk in pedro boots and has stared to say the odd word. I am still waiting for her to see the cardiologist. Yes I am in the uk...worse luck, they dont seem to know anything here :L Have just been told that I have it and so does my eldest son, but other that behaviourl problems we seem to of got off lightly! How are you and your baby doing?
JCR7676 Message
9 Dec 2011, 03:42 PM

hi Kizzy! I am so glad to hear she is progressing. Lee is also progressing slowly. He is 3 now and in special pre school. He still has some behavior problems and delays but they are working on them. He has a pressure vest he wears to calm him down at school and they are working on getting me one for the home. Are you on facebook? Join this group here!/groups/152298018180760/ its for the chromosome our children have, Its a small group but, its people who know what we are dealing with too.
Kizzymissymoo Message
10 Dec 2011, 10:09 AM

Hi will join thanks! Im so glad your son is doing well, hes so handsome :)
JCR7676 Message
10 Dec 2011, 07:41 PM

aww thanks :) Look for me there. My name is Jennifer
nickyb36 Message
15 Dec 2011, 01:40 AM

my daughter has been diagnosed today and i would like to join ur facebook group. I cannot find the page. Could you help please Nicky
JCR7676 Message
15 Dec 2011, 02:10 PM

Hi Nicky! Did you try this link?!/groups/152298018180760/ Its a facebook group. You can also look for me personally. I have a page for Pediatric Stroke Awareness and it is named that. It has a profile picture of a boy with a riding helmet.