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Tag: genetic disease

A total of 10 posts are filed under genetic disease
Sisters Clover Dawn and Danika lost their lives to rare condition called Non Ketotic Hyperglycinemia
Baby Sisters Born One Year Apart Both Lose Battle To Fatal Disease Called Non Ketotic Hyperglycinemia
My name is Jennifer and on May 16, 2002, I gave birth to a little girl named Clover Dawn and we were sent home with a clean bill of health.… Continue Reading
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Poem Called “I Am The Child” Shows Love Gained By Having Special Needs Child With Phelan McDermid Syndrome
My name is Andrea and my son Andrew has Phelan McDermid Syndrome (aka 22Q13 deletion). This genetic disorder is caused by a microdeletion on… Continue Reading
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Joanna Has Hope Despite Suffering From Primary Immune Deficiency Disease (PIDD)
My name is Joanna and I was born with hypogammaglobulinemia, which is a Primary Immune Deficiency Disease (PIDD) and a genetic defect of the… Continue Reading
Layne suffers from Tuberous Sclerosis, a rare genetic disease that causes noncancerous (benign) lesions to grow in many parts of the body, such as the skin, brain and kidneys.
The Layne Less Traveled – Life Dealing with Tuberous Sclerosis
Nothing can tell our story better than what I have documented on our blog. Traveling back through time re-reading the words that I once… Continue Reading
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Global Genes and R.A.R.E. Project Announce Tribute to Champions of Hope™ Gala to Honor Rare and Genetic Disease Pioneers, Innovators and Advocates
Henri Termeer, Biotech Legend and former President and CEO of Genzyme, To Receive Lifetime Achievement Award; Nominations Now Being Accepted… Continue Reading
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Costs of Caring for Children with Rare Disease – A Survey by Counsyl
Shivani B. Nazareth, RARE Blog contributor and a board-certified genetic counselor with Counsyl, Inc, is conducting an anonymous survey to… Continue Reading
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Saving Grace: A who-dunit solved with clues from the Middle East
Technology Helps Provide Insights to Rare Disease Vector Blog of Children’s Hospital Boston recently family’s experience with a… Continue Reading

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