Sunday, April 5, 2009

Introductions

My family has choose to homeschool our children because we feel that this is the best choice for us. My daughter has some special needs and we can teach her at her own pace. We want them to learn christian values and apply in their daily life. It has been such a joy to homeschool my daughter. Watching her learn her letters, numbers, what each letter says. Learning how to read and math. It's a joy as a mother to be the one to teach her all of those skills. I love watching her excitement. Trust me it is has not been easy at times. It takes allot of prayer and patience.

My daughter had a stroke at 10 1/2 weeks old. The stroke was not diagnosed until she was around 9 months old. She tested positive for prothrombin gene mutation factor II # G20210A, which is basically a blood clotting disorder which is one of the reason she had a stroke. She has not had any other problems with the clotting disorder. Global developmental delays and she has significant hypotonia and we deal with allot of issues concerning Sensory Processing Disorder. After many specialist and unanswered questions we finally had her seen with a Geneticist and we found out that she has a deletion in chromosome band 20p12.1. The closes syndrome in this area is called Kabuki syndrome, this is a rare syndrome around 350 cases known. Bug's deletions is different than some of the other patients with a similar chromosome 20 deletion. A large number of patients diagnosed with Kabuki syndrome have been tested for this chromosome20 deletion and none were found to have it. This chromosome 20 has been proposed as a candidate gene for Kabuki syndrome. Bug does not resembles any of the children with the syndrome but, she has some of the features in hypotonia with constant drooling, feeding problems, otitis media and other developmental delays. So at this time the specialist are unsure if this is a variation of the Kabuki syndrome or maybe something different. We are left with a lot of unanswered questions. We are still working on other health issues to try and put this puzzle together.

That is an overview of our family. I hope this encourages you in someway. With out my faith in Yeshua it would be a much harder road. Nothing is impossible with my Lord and Saviour. Shalom.

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