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JCR7676 Message
13 Nov 2010, 06:33 AM

hello! I just joined. My 2 year old son was just diagnosed with this and they are going to test my 7 year old. I would love to be able to talk to some people about it.... A little about me... I have a 7 year old who had a stroke in utero. He has right hemiplegic CP, ADHD, Aspergers and Bipolar. I have a 2 year old with a hole in his heart, developmental delays and he has a bit of a large head which I read was a symptom of this chromosome.
Angela Message
7 Feb 2011, 07:09 PM

Hello: I have joined because my 13 year old daughter has been diagnosed. She is my adopted daughter who was born with a VSD (hole in her heart) This led to them finding her veins were closing up (pulmonary vein stenosis) This led to the diagnosis of fetal alcoholism and now Chromosome 1q21.1 duplication syndrome. We live in B.C. Anyone from around here?
Geneschildren Message
12 Jul 2011, 03:40 AM

I just added a couple of research articles to the resource section of this community. It looks like the company has to review them before they will officially post them. I think both of you would find them informative. Are either of you working with a geneticist or genetic counselor? My husband and I have found them very helpful with answering many of our questions about my daughter. Please also see my new post/discussion topic. Thanks.
JCR7676 Message
13 Jul 2011, 04:29 AM

Thanks for letting me know!! I do have a genetic counselor for Lee yes. They are going to see him once a year for checkups.
Geneschildren Message
13 Jul 2011, 01:25 PM

If you don't mind me asking how old is Lee and what specific problems has he had? How has he been progressing? My daughter is 17 months old and has hypotonia and sleep apnea. When she was younger she also had larynomalagia and dysphasia, but has grown out of those conditions. She recieves PT/OT/SLP/and developmental therapies weekly. She is making very slow by steady progress with her developmental milestones. Her hypotonia (low muscle tone) appears to be her bigget challenge right now.
JCR7676 Message
15 Jul 2011, 12:39 PM

Lee has macrocephaly, the hole in his heart is closing up on its own. They are re-checking him next year. He has speach delays and fine motor delays as well as some cognitive delays. There are a few physical characteristics as well. He will be 3 in October and is behind in speach a year. His fine motor has improved a lot but he still can't feed himself with a fork or spoon. Cognitively I think he is still behind a year or so. He gets OT/SLP and he also goes to a special class for toddlers with delays at an integrated preschool. It is a class for children too young for preschool but who need some extra help through an early intervention program provided by the state we live in. He doesn't have any muscle tone issues at all. Physically they said his eyes had some kind of characteristic which I can see but to an untrained eye or to someone not looking for it, its not noticeable. His ear is also slightly deformed. Its pointy though not as pointy as when he was an infant and its cup shaped while the other ear is normal.
Supersunrise Message
19 Dec 2012, 08:36 AM

Just wanted to say hi, We have a little girl with this condition, so far doing really well. Thanks so much for sharing info about your lovely children!
JCR7676 Message
19 Dec 2012, 03:18 PM

Hiya! How are you?
Supersunrise Message
19 Dec 2012, 06:35 PM

Hi I am good, thanks. Glad to have found this group, I have read up on all the research I could lay my hands on but reading about other peoples experience of parenting children with this duplication is always good. At the moment our little girl just has a speech delay. Any tips advice on this gratefully received.
Supersunrise Message
19 Dec 2012, 06:36 PM

Sorry forgot to say our little girl also has the characteristic facial features but this isn't causing any problems for her so far.
JCR7676 Message
19 Dec 2012, 07:29 PM

Lee has some facial features too and he's delayed in fine motor and speech. He also has sensory processing disorder but it's mild. Mostly with loud noises. If you want, you can friend me on fb. Just send me a private message that it's you because I tend to ignore names I don't know lol.