Gene Therapy for SMA Type 1: Evelyn's Story

"Something like this has never been achieved before." - Jerry Mendell, MD

Spinal Muscular Atrophy or SMA Type 1 is the leading genetic cause of death for infants today. A devastating fact the Villarreal family knows all too well. Their first daughter, Josephine, was diagnosed with SMA Type 1 and passed away at 15 months. 95 percent of babies born with the disease die before their second birthday. 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. Evelyn tested positive for SMA Type 1. Soon after, Evelyn’s family found out about the clinical trial going on at Nationwide Children’s Hospital. “It’s the first time we’ve been able to apply gene therapy to any neuromuscular disease,” said Dr. Jerry Mendell, principal investigator with the Center for Gene Therapy. Evelyn was given the gene therapy and it worked. “We start seeing changes as early as two months after treatment,” said Mendell. Today, Evelyn is a healthy, normal child. Something we never have been able to say about a child with SMA Type 1. Now, her parents are thinking long-term and planning for college.

[ifyiworah]

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!!

[zedroscrid]

We just got approved for this life saving drug. Thank God for hope for our daughter

[joshuaayers]

This warms my heart. Blessings to the family and Dr. Mendell.

[sarinjason]

I lost my 2 brother when they were 27 yrs and 14 yrsold, he was sma type 1, he was very intelligent and smart I love him so much, I can't hold my tears up

[nititimalsina]

Siyona case from nepal brought me here
Oh god please save little angel 😭😭😭😭

[janedelp]

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.

[ExTrAViruss]

Our baby is 4 weeks old and just got the Zolgensma Gen therapy in The Netherlands. She has no sympthoms yet she moves like a “normal” baby. We just need to wait now till the grows up to see is her body is producing enough SM1 & SM2 Gen to move like normal kids. We just goinna hooe for the best❤

[SMA_Dad]

So awesome that there are now TWO therapies for SMA. Congratulations guys and best of luck 😎

[asmitadhaubhadel]

So happy to see Evelyn living her life to the best... Much love ❤️
We cant wait to see our baby siyona happy like evelyn please pray for her 🙏☺️

[ruthdanielson]

I cried after watching the video. Im a home healthcare nurse and care for a beautiful 9 year old little girl with Type 1, and understand how expensive the gene therapy, but wish all regardless of age could receive it in hope some improvement or at least stop the progression. This child is so smart, so eager to learn and socialize. Vent dependent, but keeping her active and muscles strong. Spinraza quarterly. Praying for miracles- so fortunate for Evelyn and all who qualify for this amazing genetic infusion. Since it works by infusing the missing gene into cells, it looks to reason it would do the same for anyone at any age, even if better outcomes for the very young. Staying hopeful. G~d bless and thank goodness for these amazing scientiests and physicians.

[iwanthaveu]

THIS IS AMAZING. I knew someone who had a child with SMA, she died at 5 years old.

[syamsundar]

such an inspiring strongly pray that one day all the children and the individuals suffering with SMA does get this treatment at their reach...

[unfailingcolt]

Hallelujah!! I’m so sorry for your loss and am so happy for your baby to be a success and able to live her life!! ❤️🙏

[destinycruz]

My baby cousin has SMA type 1, and she is now 6 will be 7 in April, beating the odds and with God all things are possible

[yungrico]

I hope my baby can be this healthy I’m so scared he’s only a week old can y’all please keep me and my baby in y’all prayers. Things like this give me so much hope for my son. I hope everyone’s baby is fine and doing fantastic

[motherofmany_]

What a beautiful ending to a tragic story.

[dawnbermejo_]

I am a post graduate intern from the Philippines and I handled patient with this kind of disease. He was admitted on our institution for almost a year. How I wish this therapy/treatment could extend in our country. Especially that we are from a third world country. :(

[suzune]

I lost my 2 baby sisters when they were almost 2 years old.. after their passing away my parents didn’t want to risk having another child and now I’m an only child and they’re too old now to have more kids.. I feel so sad I wish back then there would be this medicine, I would’ve had a bigger family and a happier life

[ebaaa.]

I pray for baby Shams to complete her medicine cost asap. Last months been crazy for us.. we've been trying to raise funds to save her before it's too late 💔 51% done and 49% left to go. We only have 3 months left. 😢

[Inaaya]

Pray 4 my baby she have SMA type 1 this is my 2nd baby i lost my baby boy this is my second baby pls pray for her we cant afford this injection....