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Rare disease day awareness!



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amother
Natural


 

Post Wed, Feb 27 2019, 11:29 pm
Hey,

Today, Feb 28 is National Rare disease day.

Please share with which rare disease you are familiar with.
Together lets spread awareness and Daven for a cure for all sickness and the great big cure for all pain and anguish with Moshiach Tzidkeinu.
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amother
Mistyrose


 

Post Thu, Feb 28 2019, 1:28 am
Thanks for raising awareness!

I actually got information that helped diagnose my daughter's disease from a post on imamother! So I am paying it forward.

Slc1a4 deficiency is a rare genetic disorder first identified in 2015. It is associated with severe development delay and progressive microcephaly. The brain is a missing an amino acid that doesn't allow the neurons to connect, affecting brain function. Children with this disease have a hard time learning how to use their body to move, and their brain to make sense of the world around them. They are adorable and healthy b"h. My child walks with assistance and uses sounds to communicate. Although see doesn't understand much, she is friendly and curious. She is always in for fun and can giggle to no end.

Since this is a metabolic issue, doctors are hopeful that it is possible to develop a treatment. There are only a handful of children diagnosed throughout the world, although the carrier rate in the Jewish community is 1/150. There are possibly many adults out there who are not diagnosed.

You can find out more details by going to the website an amazing parent set up http://slc1a4.org/
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