Baby Sisters Born One Year Apart Both Lose Battle To Fatal Disease Called Non Ketotic Hyperglycinemia

Sisters Clover Dawn and Danika lost their lives to rare condition 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. Shortly after we arrived home, Clover Dawn stopped nursing and never opened her eyes or cried. She […]

Poem Called “I Am The Child” Shows Love Gained By Having Special Needs Child With Phelan McDermid Syndrome

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My name is Andrea and my son Andrew has Phelan McDermid Syndrome (aka 22Q13 deletion). This genetic disorder is caused by a microdeletion on chromosome 22. Our son means the world to us and we are incredibly thankful to have him in our family! There […]

Joanna Has Hope Despite Suffering From Primary Immune Deficiency Disease (PIDD)

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My name is Joanna and I was born with hypogammaglobulinemia, which is a Primary Immune Deficiency Disease (PIDD) and a genetic defect of the immune system. It often takes a ridiculously long time to be diagnosed with PIDD, on average of nine to twelve years! […]

The Layne Less Traveled – Life Dealing with Tuberous Sclerosis

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.

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 typed with tears streaming down my cheeks. Today I am proud to say that we are stronger family than we once […]

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

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Henri Termeer, Biotech Legend and former President and CEO of Genzyme, To Receive Lifetime Achievement Award; Nominations Now Being Accepted For Medical Care and Research & Science Award Categories DANA POINT, CA – June 27, 2012 – Global Genes (www.globalgenes.org) and the R.A.R.E. Project are […]

Costs of Caring for Children with Rare Disease – A Survey by Counsyl

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Shivani B. Nazareth, RARE Blog contributor and a board-certified genetic counselor with Counsyl, Inc, is conducting an anonymous survey to better understand the financial cost of caring for a child with a rare genetic disease. By participating in this survey, you will contribute to a research paper […]

Saving Grace: A who-dunit solved with clues from the Middle East

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Technology Helps Provide Insights to Rare Disease Vector Blog of Children’s Hospital Boston recently family’s experience with a very rare neurological condition called Microcephaly (small head size) with Seizures (MCSZ). The disease had never been seen outside of the Middle East, but researchers at Children’s […]