Archive for March, 2017
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Layla-548kb duplication at band 15q26.3
Layla: Age 4 Diagnosis: 548kb duplication at band 15q26.3 USA Defying all Odds!Sweet, beautiful, Layla Anne was born a little baby, soon to defy all odds. She arrived into...
Myiles-Merosin Deficient Congenital Muscular Dystrophy
Myiles-age 4 Diagnosis-Merosin Deficient Congenital Muscular Dystrophy USA Myiles is 4 year’s old, he was born on September 7th 2012 5lbs 13ounces he was beautiful. When he was...
Landon-INAD(Infantile Neuroaxonal Dystrophy)
Landon-age 4 Diagnosis-INAD(Infantile Neuroaxonal Dystrophy) Diagnosis Found through whole exome sequencing-INAD (Infantile Neuroaxonal Dystrophy) USA “Landon is 4 years old now! There are no words to express how thankful...
Ethan-Atypical Hemolytic Uremic Syndrome (aHUS)
Ethan: Age12 Diagnosis: Atypical Hemolytic Uremic Syndrome (aHUS) USA “Ethan was clinically diagnosed as having Atypical Hemolytic Uremic Syndrome (aHUS). A genetic, chronic, ultra-rare disease that can progressively damage vital organs, potentially leading...