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.


  1. When I saw baby Josephine who passed away due to SMA type one, it made me tear up because my sister also has the same condition. They gave her six months to live and now she is 8. I just want to thank the Lord for the miracle put on her. She already has been taking spinraza for 1 1/2 years but the progress is not as quick. I was reading online about zolgasma and it said it could be administered to children under the age of 2. I really hope that there will be amendments in the future so that she can recieve the one time treatment as well.

    Rest easy baby Josephine, we all love you!!

  2. This is all fine and well but what we have here is a situation where insurance companies are effectively compelled to pay for these medications and treatments, which can run millions up front and hundreds of thousands per year recurring in some cases. Multiply this by scores of these type of super-drugs to treat super-diseases and multiply that my hundreds of thousands of covered patients and you have a good chunk of the medical insurance cost crisis that we now have – that is still being shrouded by Obama-Care but will become a nuclear bomb once O-Care is inevitably obliterated.

    Think about it – if an insurance company is going to risk incurring millions of dollars in drug treatment costs PER PATIENT for this growing list of "treatable" super-diseases, they are going to have to pass that risk through in the form of enormous premiums. Bottom line, this is not sustainable. People that want to make this kind of thing happen for afflicted people, and I'm one of them, should put their money where their mouth is and fund a voluntary pool to finance it.

  3. Such a great story. I am very happy to see all the progress that is going on with this horrible disease. I lost my sweet boy to SMA 1 in 1995, he was 10 months. Back then there was nothing Dr.s could do but issue a DNR and refer us to hospice. I miss him each and every day.

  4. Does anyone know how to get started for getting gene therapy? Whom should we reach out and at what age we can give gene therapy?


    Appeared 1 case in Portuga,l Matilde has 2 months. The mediation isn't available in Europe and outside that uses 2 million We are making donations to try to help the girl.

  6. I am truly amazed what science can accomplish these days. If it was left up to God, she would die like her sister- it's scientists and doctors who go above and beyond to help kids like her.

  7. Plz tel me what shuld i do i have baby girl…she is also dignosed sma in 6 mnth old n now she is 8 mnths….plz tel me 1st of all what is important to do with her????

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