Gene Therapy for SMA Type 1: Evelyn’s Story

SPINAL MUSCULAR ATROPHY OR SMA TYPE ONE IS THE LEADING GENETIC CAUSE OF DEATH FOR INFANTS TODAY. A DEVASTATING FACT– THIS FAMILY KNOWS ALL TOO WELL. Our first daughter was diagnosed with SMA Type 1 at 6 months. She passed away at 15 months old. This is a disease that is devastating for infants. A large percentage of patients die before one ye ar of age, but 95+% are gone unfortunately by age 2. SMA rapidly robs babies of their ability to move, talk, swallow and eventually breathe. When Milan and his wife Elena found out they were pregnant with their second child Evelyn, they prayed for a healthy baby. Unfortunately, that was not the case. When she was born and the results came back, And found out she was positive for SMA type 1. We just broke down. We found out about the clinical trial here at Nationwide Children’s Hospital. This is really the first time we’ve been able to apply gene therapy to any neuro-muscular disease. Today was a very special day for Evelyn. She was given genetic therapy for her missing SMN gene. Babies with SMA are missing a gene vital for development through a one-time injection gene therapy replaces this missing gene. For Evelyn, this gene therapy worked. We start seeing changes as little as two months after treatment. We started seeing her push and she started to get more active, holding her head up. a little after 3 -4 months she rolled over on her own. Now, 3 year old Evelyn challenges Dr. Mendell to a dance off at her annual follow up appointment She comes back after three years and she runs up to me and hugs me and says, Dr. Mendell I love you. I forget that she has SMA. This is a healthy girl and she does everything a normal 3 year child would do. Something like that has never been achieved before. With our first daughter, it was just devastating to lose a child you lose all dreams you had for their future. and now we can actually save for college.


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