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Navigating a Difficult Road

By: Hayley, mom to Carter

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.

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.

For the longest time, Carter wasn’t talking at all, but now he’s starting to have his little voice and it makes my heart happy to hear him talk. Carter started walking at around 22 months old.

Carter’s passion is music! He will watch music videos and see how people dance. Then he will copy what they do. He isn’t the typical kid who likes the newer music. Carter loves all the older music. He loves listening to Glenn Miller and CCR.

It has been a long difficult road, but we are here and Carter is thriving! He is the smartest and loveliest little man.

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