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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...
Rare Disease Day
The Szajnuk’s celebrated #RareDiseaseDay with a tea party planned by Lucy! She even drew on the white napkins the Undiagnosed awareness ribbon:) Priceless! However, we are missing our...
RUN’s NBA Initiative: 30 Rare & Undiagnosed Children invited for NBA Utah Jazz Appearance
Thank you Boris Diaw for donating 60 tickets through the player donation program to RUN! RUN is currently looking for thirty rare and undiagnosed children to make an...
RUN’s Journey
My name is Gina Szajnuk and I am the mother of three children with an undiagnosed genetic dysfunction. I am also undiagnosed. We live in a diagnostic odyssey...
“Life in the Undiagnosed World: Our Journey for a Diagnosis” by Carrie Bramlee
This story originally appeared on Bullfrog(s) and Butterflies: Life in the Undiagnosed World: Our Journey for a Diagnosis “Take him home and try to give him as normal of...
Wisconsin Rare Events for 2017
2017 WISCONSIN RARE EVENTS Wednesday, January 25th, 2017: Milwaukee Bucks vs. Philadelphia 76ers 7:00 PM – Bradley Center Address: Bradley Center, 1001 N 4th St, Milwaukee, WI 53203 The...