Tag: rare disorders

A total of 162 posts are filed under rare disorders
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PKU and the Adventures of Luke and his Incredible Family
Luke was born February 12, 2007, the seventh of our beautiful children.  At four days old we received a phone call that Luke’s new born… Continue Reading
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NIH Supports Global Genes Project and Jeans/Genes Awareness Efforts
Over the past two years, the Global Genes Project efforts have been highly visible at the NIH for the annual World Rare Disease Day… Continue Reading
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Alternating Hemiplegia of Childhood — Meet Brave Boy Matthew
Imagine your child suddenly lost the use of one or more of their limbs for minutes, hours, even days. Imagine these episodes were often… Continue Reading
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Mitochondrial defect with Methylglutaconic Aciduria – Organ Failure Takes My Baby Boy Keagan
Our son Keagan was born healthy and happy at 37 weeks on November 21, 2006 at 5 lbs., 12 oz, 18 inches long. He was perfect and came home 24… Continue Reading
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Multiple Hereditary Exostoses – Meet The Thompson Family
My family is engulfed with Multiple Hereditary Exostoses (MHE).  The disease has affected my grandfather, mother, uncle, cousins, brother,… Continue Reading
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Lady Gaga – ‘Born This Way’ Foundation (BTWF) Launches To Promote Acceptance
“Whether life’s disabilities left you outcast, bullied or teased.  Rejoice and love yourself today ’cause baby, you were born this… Continue Reading
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Sibilings Have First Known Cases of Duplication Chromosome 14q32.33
Vanessa and Jacob both suffer from a very rare genetic disease. They are the first known cases of duplication chromosome 14q32.33. They both… Continue Reading