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Just diagnosed and completely lost!

Bel_1975 Message
26 Jun 2012, 02:12 AM

My five year old has just been diagnosed. My husband and I have just had the testing done as well to see which bloodline it has come down. I feel completely lost and confused she was originally diagnised at 2 with cerebal palsy, this was changed to dyspraxia and our new Paedritrician ran all the tests and this is now the diagnosis. We are waiting for our results to come back before seeing a geneticist. I am quite alarmed I thought this was quite common till I sat down today and started researching it. She is my youngest and reading this information has made me really concerned about them as well particularly my eldest . . . thanks for reading just wanted to talk
nickyb36 Message
26 Jun 2012, 07:43 PM

Hi my middle daughter has this syndrome. Only got diagnosed last December and so have I. I also thought my daughter had Dyspraxia and learning difficulties. She was very late in talking. Now attends a special speech and language class, but is now progressing well with speech therapy. She is eight. I was relieved to get a diagnosis but also wasn't expecting something so rare. They have only known about this syndrome for two years and that's why there isn't much info. I'm sure there is more people out there. I also have two other children but neither have the syndrome. Although my son does have special needs as well. Hope this helps you
mwpotter Message
6 Jul 2012, 05:32 PM

Hi, folks - I'm new here, but my son (who will be 4 next month) was just diagnosed with 1q21.1 duplication. My wife and I tested negative, and our eldest son is also negative. From what we've read and discussed with our geneticist, our son's symptoms are comparatively mild. He was born with strabismus (crossed eyes) and had corrective surgery. He was also very prone to ear infections and had tubes. His speech development was delayed and he's been in speech therapy for articulation/intelligibilty since he was 1. He also had some motor delays but has largely overcome them to now test in the normal range. He is very bright, has a large vocabulary, and is very social and affectionate. He's become much more impulsive and at times rather hyperactive, but we don't know if that just goes with his age or with his chromosomal abnormality... He also doesn't sleep all the way through the night with regularity. In recent months, he's only been able to put together one or two nights of solid sleep each week. The rest of the nights, he may wake four or five times at various times, calling out for his parents or simply crying out. Sometimes he's able to sooth himself back to sleep after 10 minutes, at other times we need to go in an reassure him. We're going on 4 years of this -- and we're exhausted!
Tiffanyxoxo Message
15 Jul 2012, 03:17 PM

Hello. We just received the diagnosis this week. Like the above poster, we think it's mild. He does have a bigger head, a speech delay,and prone to ear infections. ( even after tubes). My son will be 3 in august. We have not talked to genetics yet, but I spoke briefly to the pediatrician. He's been in early intervention since around 14 months for speech, and starts preschool soon. Does anyone know if it's the severity of the duplication that cause more symptoms? I'm trying to understand the lab test results. I believe you look at the MB number, but I totally am guessing on that.
mwpotter Message
15 Jul 2012, 09:15 PM

There is a national study of people and family members affected by 1q21.1 duplication and deletion disorders being run by Simons VIP Connect. Learn more here: "Simons VIP Conect": I've been in touch with them for the past week and my son is eligible to participate. I checked it out with our geneticist and she was interested in learning more about it. Apparently, the people at Simons are trying to discern any links between genetic disorders and autism. So the research will involve neuropsychological testing and perhaps MRI imaging of his brain functions. I'm actually doubtful our son could be still enough for an MRI, but we'll see. We have a phone interview tomorrow.
Tiffanyxoxo Message
16 Jul 2012, 01:23 PM

We go for an MRI on the 31st. Not for a study, but a test that has been scheduled before this diagnosis came in. MWpotter, what MB is your son's duplication. I have been doing alot of research (Im going to have to change professions I am curious to see since your son and mine sound so much alike. (his is 1.195MB) Tiffany
mwpotter Message
16 Jul 2012, 01:49 PM

The total length of Luke's duplication is 2.20 MB affecting 27 genes. However, his duplication extends beyond the range of the area that is considered pathological and into the area that is benign. I'm not sure if that matters, but our geneticist indicated that may be why Luke's symptoms are comparably mild. In addition to the surgeries Luke had to correct his vision and insert the ear tubes, when Luke was about 14 months he developed an infection in the soft tissue around his right eye. The geneticist explained to us that the genes involved in 1q21.1 likely made him more susceptible to such infections. The only other physical symptom is that he has a very slight snd benign webbing in his vocal cords. It's discovery was what prompted our ENT doctor to test for genetic abnormalities.
Tiffanyxoxo Message
16 Jul 2012, 02:22 PM

We haven't been in to discuss his results yet, but I want to go in there prepared to understand. So when you say 27 genes, are those listed on the lab report from the microarray? On my sons report it states that the duplicated region contains 9OMIM genes. I would love to compare these genes with you if you would be comfortable with that. Have you been tested and is Luke's hereditary? I keep finding indications that it could be from me or his father daily. (his father has a bigger head when we went to the neurosurgeon, I am prone to eye infections).Is Luke in EI? Does he have a speech delay? Is he in preschool? Im sorry, hopefully I am not being a pest!
mwpotter Message
16 Jul 2012, 04:03 PM

Hi, Tiffany - You're not being a pest. Just a responsible parent! I answered some of those questions above in my first post, but I'd be happy to discuss specifics more via e-mail rather than public post. You can reach me at mwpotter(a) Take care, Mark
mwpotter Message
17 Jul 2012, 04:16 PM

My wife and I were tested and Luke's duplication is not hereditary (de novo). We have an older son who has not yet been tested (but will be soon through the Simons VIP research study) -- he shows no symptoms whatsoever and likely does not have the duplication. Of the 27 genes affected in Luke's duplication, 13 are OMIM genes -- all 27 genes are listed in his lab report. Luke's head size has always been in the normal range, and the only physical symptoms beyond his eye surgery that he has exhibited were noted by a developmental pediatrician who stated that Luke has a small mouth, ears with slightly excessive folding, and mildly short fingers. He does not have any trace of a heart murmur. Because Luke has had developmental difficulty with speech production, he had his vocal cords scoped when he was getting an ear tube removed. In addition to vocal nodules (just like Adele!) he had a very slight (and benign) webbing between his vocal cords -- as some people have an extra bit of skin between their fingers. That's the final symptom that prompted his ENT to refer us for genetic testing.