X Chromosome Rare Disease/Danon Disease
There is a story behind this X Chromosome design that I would like to share with you. In 2016 my daughter and my 2 grandsons were diagnosed with Danon disease, its a very rare disease caused by a mutation of the X linked Chromosome.(LAMP 2 Gene) it is a lysosomal and glycogen storage disorder that thickens the skeletal muscles of the body including the heart which in most cases leads to heart transplants and even heart failure.
I've been working on a design for well over a year now trying to design a piece of jewelry that will be fashionable and also draw attention to the piece. I'm hoping by drawing attention to the piece it will open up an opportunity to raise awareness of Danon Disease. Please click on the links below to learn more about Danon disease and signs and symptoms you need to be aware of. Although there are less then 500 people in the world with this disease its suspected that there maybe over 30,000 undiagnosed cases. My daughter went undiagnosed until she was 28 years old, when her boys were diagnosed in 2016 that's when we found out it was linked to her. I have listed a few symptoms below that the my grandsons have, together we can help raise awareness.
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https://www.youtube.com/watch?v=IgiXfzmYohM
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(WPW) also known as Wolff Parkinson's White Syndrome
Raised liver enzymes
Cognitive disorder
ADHD Also know as Attention-deficit/hyperactivity disorder
HCM Also know as Hypertrophic Cardiomyopathy
Developmental Delay
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https://rarediseases.org/rare-diseases/danon-disease/
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