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A-year-and-a-half ago we finally got our genetic test results back! We were relieved to finally know the answers. Carter was diagnosed with Smith-Magenis syndrome (variant 17p11.2 deletion). They wanted to do further testing on him and found out he had two other syndromes. They diagnosed him with Burt Hogg Dubé & FLG. Last August we went to Chicago & saw a doctor at the SMS Clinic and she also diagnosed him with autism.
Rare Disease Day is an observance held on the last day of February to raise awareness for rare diseases and improve access to treatment and medical representation for individuals with rare diseases and their families.
November 17 is Smith-Magenis Syndrome Awareness Day and Shelia Hernandez-Hale went the extra mile to to spread awareness in her community in Puerto Rico.
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