About Me


I am a single mom of three amazing boys!  All three of my sons entered my family through adoption.  All three of my boys have developmental disabilities. My oldest son, Matthew has been diagnosed with Fetal Alcohol Syndrome and Bipolar Disorder. David, my middle son, has a genetic condition, he has a duplication on his 15th chromosome which leads to autism like symptoms, seizures and learning challenges. My youngest son, Jacob has learning disabilities. Each of my children bring unique challengs to our family and also bring their own personality and joys to our everyday life!

Wednesday, April 13, 2011

15q11.2

That is the name of David's chromosomal disorder. What it means is that a very, very, very tiny duplication was made on the top of David's 15th chromosome. The impact of this duplication ranges from nothing at all to complex developmental disabilities......David is one of the Bloom boys, which basically means he does nothing half way....he has decided to go full force and make sure that he takes full advantage of any and all implications that this duplication can have on his body.

This duplication is known to cause autism like developmental delays, seizures, speech delays and motor delays. Apparently all of the doctors who have seen David who have tried to put their finger on what exactly is the reason for david's delays have all been correct- he has symptoms that appear like autism spectrum disorders but cannot be completely defined as autism spectrum disorder. He has always had speech delays and motor delays, and well the seizures, they have definitely had an impact on him in the past and even though they are now well controlled, they are still occurring infrequently.

What does this mean in the long run for David? Likely that he will continue on his developmental path in life. He will learn, but his learning will be slower and will require a lot of intensive teaching.

he will require time to process information, and to learn new skills. He is medically no more fragile than he was in the past, and thankfully there are no other implications of this duplication than what we are already dealing with,so that is great news.

I am thankful to have an answer to the What question for David, I am trying to make peace with the "why" question....why did this happen? Why did it happen to David? And I am moving forward.....baby steps, but I have stopped obsessing about the name and researching it online...and that has led to me feeling more peace.

4 comments:

  1. sometimes why questions are never answered and a waste of energy that can be spent on the bloom boys. at least you know what is going on in david's body now and can move forward!

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  2. My 2nd son has a deletion of 15q11.2. A lot of the issues he might have are similar to the duplication at the same spot. However, my son has (so far) been on the more mild (but still having symptoms) side of the spectrum.

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  3. Thank you for sharing our daughter was just diagnosed with this dup gene, and we are so thankful to have a answer. Thank you from one mother to another...

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  4. We have a 3 yr old daughter with this same duplication at 15q11.2 ~ I would LOVE to be in touch with anyone with a child who has the same. PLEASE contact me: monica1216@yahoo.com

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