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    Default Baby with 15q11.2 microdeletion

    Hi all, this is a long shot, just wondering if any mummies have a child with a 15q11.2 microdeletion? Our unborn child has just been diagnosed with this after having an amnio for a high risk Down syndrome pregnancy. Just trying to get as much information as we can

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    I don't have any children (yet) but I did a quick search & this del might cause Prader-Willi or Angelman syndrome so it might be good to look those up or find parents who have kids with those syndromes.

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    My 7yr old is being tested for Anglemans mosaic. Should get the results next week.

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    Hi Kazza76, I realise that this is a really old thread, but im hoping you still get message alerts........I was just wondering how you got on with your situation, as I find myself now in exactly the same position! I am particularly interested to hear how your bub is going, and whether the doom and gloom of the specialists was warranted.
    Cheers

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    Hi Desparateforanswers.

    It's been a while and quite a roller coaster ride. Our beautiful baby girl was born December 30 2013 8 weeks early due to cholestasis complications. So she was a little behind due to premature.
    Since then Gracie has been delayed. She didn't crawl until 12 months and 1 day and she didn't walk until 21 months. But other then that. She's perfect. She communicates with us. Understands directions. Has really good fine motor skills. Just her gross motor skills are slightly delayed. She has no signs of autism or Aspergers. But they are going to continue to monitor her till she is about 5 every 6 months.
    When she was born they retested her and she definitely had the deletion at 345kb. Both my husband and I were tested to see where is has come from and I too carry the deletio. At 315kb. So the hope is, that Gracie will be the same as me, a carrier and not an active problem. If you want to add me on Facebook my name is Karen Ellis or message me and I can tell you more. There are also a couple of support groups on Facebook with people around the world who also have this diagnosis. Some are extremely affected and others are not.

    This is all extremely over whelming. The time from diagnosis till now has been stressful, scary, extremely rewarding, happy, sad you name it. I wouldn't change my little girl for the world. Feel free to message me Hun xx.

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    Thank you so much for responding Karen! Your story gives me hope - our deletion (which my hubby carries too) is about the same size, so i have everything crossed that the outcome is similar. Our genetcally 'normal' daughter didn't crawl till 11months and walk till >18months due to hip issues......so delays in motor skills don't worry me. Just hoping that's all we have to worry about.
    Thank again!

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    Hi Karen and Desperateforanswers
    Hello, I've only just come across this site, and we're looking to make contact with people who may share our experience and vice versa.

    Our son Elliot is 4 now and he has 15q11.2 microdeletion of about 500k base pairs, and our second child of 12 months Emmett has a microdeletion at 14q24.3q31.1 of 2.5million base pairs.

    They are both completely adorable and in the case of Emmett it's still so early we cannot tell the impact.

    Little Elliot has moderate global development delay and severe speech delay which causes him a lot of frustration because he appears to understand but cannot really communicate verbally except in a very limited sense.

    He attends a speech therapist once per fortnight (which doesn't feel enough) and an early child development school 5 hours per week (ditto).

    We are applying for NDIS, but would be keen to know the experience of you guys and what has helped for you.

    Incidentally we are on the Gold Coast.

    Melissa


 

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