Monday, January 16, 2017

20p12.1 Micro-deletion

Update in the last few weeks I was contacted by a mom in Germany who came across my blog who has a son with this deletion. It was a surprise for me.

I have my Bug listed on a network called Chromosome Disorder Outreach and Unique. When I renewed my yearly information with Chromosome Disorder Outreach in January I get an update of any new cases with this deletion. Let’s just say that my Bug has been lonely on the list for many years.

When I received the yearly information I saw that the mom from Germany and one other person was listed. I was already in contact with the mom from Germany and she knew of another child who had this deletion in Germany. We reached out to the other mom who was in the United States. This mom knew of another individual with the deletion. I was excited after so many years of thinking my Bug was the only known case of this deletion.

As of now we are 5 kids in all that have 20p12.1 deletion. All of the kids have some of the same issues and some of them have other issues that are unique to them. My Bug is the oldest and its interesting seeing the same unknown issues that my Bug has already went through. 

It’s excited to me as I know that I am not alone on this journey. I don't know how this will help us. We will all talk to our geneticist about this. Bug goes in 2 months for her 2 year follow up.

This is from my page that I have had out there since 2010 and I have kept updated over the years. 

This is what I wrote:

What is 20p12.1? Good question as we don't know either. They are not even sure if this is the reason for her physical challenges and her characteristics. My daughter is one of the many children who are pretty much un-diagnosed. I am not alone as there are many other families in the same boats, all searching for information that will help them understand their child's symptoms and special needs.

What is my hope of this small page? Maybe someone out there has the same genetic deletion as my daughter and will find my blog. Maybe we can help each other in our search.

What symptoms do we have?

*Stroke at 10 1/2 weeks old
*Global Developmental Disorder
*Lots of eye issues - 5 names I still can't pronounce
*Intellectually challenged
* Rheumatoid Arthritis -Juvenile Idiopathic arthritis, Persistent Oligoarthritis
*Sensory Processing Disorder
*Hypotonia (Low Muscle Tone)- significant
*Blood clotting disorder G20210A Prothrombin Gene Mutated Factor II
*Raynaud's Syndrome
*Doctor's wonder if she could be a precursor to Lupus.
*Failure to thrive with weight-we are looking at a possible feeding tube.(Not an issue anymore).
*GI issues with unknown blood issues. 
*Reflux for several years when younger. 

*This is just the short list as that is all I can think of at the moment. :-)

My child looks just like your child except that she is unique is so many ways. On first glance if you don't have a trained eye like the geneticist does you would probably not even notice her dysmorphic features. They are there if you know what to look for.

This is my daughter's life in a nut shell. Blessings and thanks for stopping by my little page. I will update when I can. 

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