01 November 2013
20p12.1 Micro-deletion
20p12.1 Micro-deletion
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-diagnoised. 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
*Seizures
*Global Developmental Disorder
*Lots of eye issues - 5 names I still can't pronounce
*Intellectually challenged
* Rheumatoid Arthritis -Juvenille Idiopathic arthritis, Persistent Oligoarthritis
*Sensory Processing Disorder
*ADD
*Hypotonia (Low Muscle Tone)- significant
*Autism
*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 do 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.
***Update in the last few weeks in January of 2017 I was contacted by a mom in Germany who has a son with this deletion. As of now we are 5 kids in all that have a similar deletion that some vary slightly in the amount of the deletion.
We have been excited to share information and to compare many similarities and other issues that are not similar that our kids are challenged with.
We are not alone on this journey with our kids.
#20p12.1
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
*Seizures
*Global Developmental Disorder
*Lots of eye issues - 5 names I still can't pronounce
*Intellectually challenged
* Rheumatoid Arthritis -Juvenille Idiopathic arthritis, Persistent Oligoarthritis
*Sensory Processing Disorder
*ADD
*Hypotonia (Low Muscle Tone)- significant
*Autism
*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 do 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.
***Update in the last few weeks in January of 2017 I was contacted by a mom in Germany who has a son with this deletion. As of now we are 5 kids in all that have a similar deletion that some vary slightly in the amount of the deletion.
We have been excited to share information and to compare many similarities and other issues that are not similar that our kids are challenged with.
We are not alone on this journey with our kids.
#20p12.1
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