Patient of the Month: Nicolas

Published on: 01/24/2022

When Janer and his wife began to notice a slight tremble in their son Nicolas’ hand, they knew something was wrong. They received multiple opinions which all lead to the same diagnosis.

Nicolas was diagnosed with spinal muscular atrophy type 2 (SMA2), a genetic neuromuscular disorder that affects the nerve cells that control voluntary muscles (motor neurons). Without treatment, progressive muscle weakness develops in babies with SMA2 between ages 6 and 12 months.

After years of searching for help and answers in Colombia, and dealing with many obstacles with the healthcare system in the country, Nicolas was unable to receive the treatment he needed to slow the progression of the disease. That’s when Janer and his family decided to move to the states with future plans of heading up to Canada. But it wasn’t until they found Nicklaus Children’s Hospital, that they decided to stay in Miami to get Nicolas the care he needed.

Nicolas was able to qualify and receive the medication he needed to lead a better quality of life, and he continues to receive care at Nicklaus Children’s Hospital.

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