Gene Therapy for SMA Type 1: Evelyn's Story

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How Gene Therapy works: bit.ly/2VpxIja
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Meet Jerry Mendell, MD: bit.ly/2ZRzrkH
More on our Center for Gene Therapy: bit.ly/2ZQLSgL
More on our Research Institute: bit.ly/2ZSF2aw
"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.

[@zedroscrid2644]

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

[@jingchen3986]

How is your daughter now? My son sma type 2 and waiting for oregon health plan to approve.

[@PoojithTheRealStories123]

I am Indian from Kerala. Ayurveda show great results in Manegmant of SMA. Dr Roshni Anirudhan treat me and save me from death. If you search as roshini anirudhan in KZbin or Google you can see her interviews etc. If you see me please open this site:english.mathrubhumi.com/news/offbeat/read-the-story-of-poojit-who-lies-on-his-desk-in-classroom-and-studies-kerala-1.3641513

[@arshad5316]

Poojith The Real Stories i’m from Kerala brother where is this location?

[@Mehnoor_world]

How is ur doughter now she is improving

[@zeenatashraf5390]

@@Mehnoor_world apka baby kesa hai ab??

[@ifyiworah2859]

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!!

[@ebaaa.2729]

Sorry to hear about your sister Did she take Zolgenzma?

[@nititimalsina9256]

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

[@joshuaayers1170]

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

[@raquel2216]

Please donate do Emilly! A Brazilian little baby with less than 1 month to be able to take the Zolgensma. This remedy it's her chance to have a better life: vaka.me/864787 This is her story kzbin.info/www/bejne/d3qul3VopKd_ras vaka.me/864787 vaka.me/864787 vaka.me/864787 vaka.me/864787 PLEASE, HELP US!

[@sarinjason3289]

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

[@bhairapulatha2560]

Plsss stay stronggg

[@jessicasecular4937]

I lost my niece who passed away on 26 may 2021 even she was suffering the same😭😭

[@SMA_Dad]

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

[@janedelp2557]

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.

[@Itried20takennames]

As a mother who has lost infants due to unrecognized treatable complications, and as a doctor who works in this field, my condolences. I know it can take years to return to the “new” normal. Thank God for those who worked for these new treatments.

[@HighTen_Melanie]

Jane Delp I’m so very sorry for the loss of your son. A school friend in my sisters year had Sma and passed away at the end of 1994. We are still totally devastated by her passing. How I wish Spinraza could have been available back then. Xx

[@anup5268]

Jesus ee little baby visayam lo help cheyyu.Jesus ki Prayer cheyyandi.plz andaru

[@anup5268]

🙏plz help Jesus

[@asmitadhaubhadel9482]

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 🙏☺️

[@ruthdanielson919]

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.

[@teijaflink2226]

I think everyone should get it as looking at this little girl the change is huge. If there is a medication that is this life chancing it shouldnt be about money but about humanity and human rights, now these people will get the chance to live a life almost like everyone else if given as fast as possible. As they wont need carers and will be able to work that will reduce some of the cost too. That type is or was terminal, it's absolutely amazing to see the difference in the little girl.

[@iwant2haveu]

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

[@motherofmany_4414]

What a beautiful ending to a tragic story.

[@syamsundar1099]

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

[@unfailingcolt8928]

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!! ❤️🙏

[@arafaibrahim1649]

How I can get access to this hospital

[@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❤

[@viktoryamjsmile7]

Hi, i would like to know how your little girl is feeling now ? Do you see improvements ? how does she move two months after the treatment?

[@teijaflink2226]

That's amazing how fast the research has gone to now with children having no symptoms.

[@yungrico4911]

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

[@KiaraWilliams-Wilson-mp2pc]

Hi, how is your son doing? He sounds like he’s the same age as my son who also has SMA. I hope all is well. Please reach out to me if you have any questions or just a listening ear :)

[@thatderangedbunny]

🙏🙏🙏

[@ebaaa.2729]

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. 😢

[@Mehnoor_world]

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....

[@estef8932]

My heart goes out to you. Praying for your precious baby! How is she doing?

[@destinycruz7]

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

[@fatimasalman8921]

How is your baby girl now?

[@vegas9440]

She is sooo beautiful... I wish her nothing but happiness and prosperity in her little life..

[@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. :(

[@suzune1868]

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

[@Sprinklefanfan]

My sister has SMA type 1 and she is 8 years old and it's honestly a miracle

[@ifyiworah2859]

Hai

[@kabiruddin9134]

My child have the same disease.can you guide me the treatment procedure pls.

[@Sprinklefanfan]

@@kabiruddin9134 I don't know much but you have the option of a fairly new medicine called spinraza (public name), my sister is on that medication and its seems to slow/almost stop her muscles form deteriorating. Also, if the child is still young (0-2 years), there is a new gene therapy called zolgemsa i think, where the gene therapy is passed throught the liver. I would also suggest that if your child is not on a ventilator/trached, you ought to do that. It really improves the quality of life and the life expectancy of children with SMA type one. Hope this helps.

[@Sprinklefanfan]

Also the spinraza is administered through the spinal cord

[@fatimasalman8921]

How is your sister now?

[@riyahhussinsaid]

In Malaysia, we currently raising a fund for baby Naail to undergo the gene therapy treatment. Total cost is around 2.6M USD. We managed to raise 1M++ USD as of today. Half way to go. We can do this 💪🏻

[@BIM0711]

Please help us to get her treatment done,and how we can approach this drug..

[@BrittanyAlexeyScism]

It's a miracle truly 🙏

[@allmasy_esl]

This is amazing but still so out of reach to most of the children here in Turkey. I watch them slowly fading away but the price is too high and there is not enough time to collect all those dollars. It’s breaking my heart!

[@alabamaviking.2309]

You guys are great.

[@xplore.360]

God bless you I am in india l lost my child because of SMA

[@PoojithTheRealStories123]

Don't worry. I am Indian from Kerala. Ayurveda show great results in Manegmant of SMA. Dr Roshni Anirudhan treat me and save me from death. If you search as roshini anirudhan in KZbin or Google you can see her interviews etc. If you see me please open this site:english.mathrubhumi.com/news/offbeat/read-the-story-of-poojit-who-lies-on-his-desk-in-classroom-and-studies-kerala-1.3641513

[@xplore.360]

But my son is no more

[@PoojithTheRealStories123]

@@xplore.360 Oh. If you know someone suffering with SMA please share this news to him. God bless you.

[@arshad5316]

Poojith The Real Stories i had lost my first baby because of SMA1 now my second baby has the same sma1. We are going to do the gene therapy I don’t know how much it will effect.

[@sukhjitkaur3828]

@@arshad5316in which country do you live?

[@Elsonoliveira716]

Such a complex diesese and she is saved.its miracle

[@creativityhub1350]

For people on here who can't afford it, the genetic sequence that Zolgensma used is public info. Their administration protocol as well.

[@rrrrmcg408]

This Is amazing ❤

[@problematicpainandme1344]

Wow, excellent result

[@sunitabhawnani6969]

Hats off to you

[@scimathist]

Kiaan Singha from Tripura, India has been diagnosed with SMA type-1. He is seven months old. But the gene therapy is very expensive to afford. That's why they have started a crowd funding on ketto. Do support him. Hope for the best. 🙏

[@dmdadam7404]

Hello for dmd gene theraphy when get FDA approved answer me please

[@ariefmdnor5201]

In Malaysia we have 2 babies that need help from this disease. 1st baby we have success collecting 2.125 million USD. 2nd babies are on going collecting donations with the same amount. Today 15/6/23 is the due date and it almost hit the target.

[@Marta-ki3hw]

In Poland we also have couple of babies with that SMA1 and that therapy costs about 3 Milion dollars each. It's huge but people fights for them by themselves because our gouvernment didn't even try to give some money. 😢 We believe that they can fly to USA for their treatment soon. (sorry for my bad english)

[@daniellemccarter5706]

Marta 83 Why do they have to fly to USA is it cheaper here.

[@Marta-ki3hw]

Danielle Mccarter because these treatment is possible only in USA

[@RaluMariaRa]

@@Marta-ki3hw true..a romanian mother fight for her baby also..but she said is 2,2 million usd not 3

[@teijaflink2226]

Made me very sad to read all the comments from parents from countries where this is not available desperate to help their children. This video is couple of years old so I hope it's more available now.

[@arvindgaursandilya8626]

My son is 3 year old he suffering from smn1 Gene 'please tell me evlen Gene therapy name

[@Nocgirl]

It seems very similar to ALS? The gene therapy is truly incredible

[@niveenovee]

Hey there... Please tell me which gene therapy you applied for Evelyn??

[@dhawalkes]

Hi Nivedita, may I ask if you have someone with this problem? I want to connect with you please as i am also a parent for such.

[@niveenovee]

@@dhawalkes Hello Dhawal, my son is diagnosed with SMA, type 1. He's now 8 months old.

[@rishidaadda4964]

Mem plz contact me my son 7 month sma type first

[@rishidaadda4964]

@@niveenovee madam plzz sujjestion me

[@niveenovee]

@@rishidaadda4964 Please search for curesmaindia.org.. This is parent led community in India..

[@arafaibrahim1649]

How i can acess this hospital for my child with SMA

[@perry6480]

Wow. God bless her.

[@DianaKazimiera-]

I wish children who fight SMA that thanks to innovative medical work they will recover and fulfill their dreams. The parents of these children always hope that they will succeed ❤️😀Good luck and great respect 🕊️🤝 #Health #Life #SMA ❗

[@smritibista7862]

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?

[@kattarhindu107]

I'm suffering from spino cerebellar ataxia... Is there any permanent treatment available for SCA

[@lindablack2854]

God bless her

[@jerzyszustakiewicz6193]

Thanks.

[@jeannieves6275]

Precious Angels🙏🏽🦋

[@Mixfruitvlogger2210]

Can someone help me to get this treatment for my 5 month baby he deducted with this rare disease SMA -1

[@rebazabas9636]

When Treatment in SMA1? Pliss..

[@shalabypharmd4137]

My nephew is 50 days old and was diagnosed with SMA1 No one has talked to us about this Drug. Does anyone with SMA1(under the age of 2) a candidate for this drug? Please let us know. This could be literally a life saving situation!

[@beezified1898]

Yes only child under the age 2 can take zolgensma. Also you need to come to USA for the treatment. You can find more info in their website

[@Sprinklefanfan]

Hopefully they can make this for older kids my siater is 8 with SMA type 1

[@creativityhub1350]

The genetic sequence that Zolgensma used is public info. Their administration protocol as well.

[@daniellemccarter5706]

GMO Raulicus Why not guide them to what to look up instead of keep reposting same comment everywhere.

[@creativityhub1350]

@@daniellemccarter5706 here are step by step instructions, if you have further questions I can be found on FB: kzbin.info/www/bejne/p3abe4ycZ6xpi6s

[@turkialotaibi7697]

Hi , is there update about LGMD2B gene therapy ?

[@superdog4634]

Hi! I need to get in touch with parents of little Evelyn. My friends baby was just diagnosed with SMA 1. They have couple question to ask. I tried to search on FB, but didnt find any contact on them. Anyone can help?

[@barshabarsa5749]

You can refer to case of "siyona" from nepal her parents are trying to collect fund for treatment. Hope it help. Good luck

[@jeannieves6275]

Awesome 🙏🏽😇

[@EidoVlogs]

Hello guys and dear doctors I have one cute brother he is now 15 but i think he has SMA he is so keen but can’t swallow and can’t move can’t walk... I am living in Afghanistan here is no good doctor as well so please tell me a way please please please guys🙏🙏🙏

[@anmoolzindagi3542]

My niece is also diagnose with sma type one plzzz help treatment is very hight amount

[@jeannieves6275]

Awesome 👍🏽

[@nickchen6014]

When for BMD?🥺 🙏

[@taehyunz4111]

:( my suster is in the hospital right now cause of this. The only cure is in america and im in the philippines shes rlly in pain but im trying hard to get over when she passes away.

[@jeanakatherine9369]

I’m so sorry to hear this!

[@adelmaher1991]

I have twins baby 6 months of age with SMA , what should I do please????

[@Imanimal-lover]

My grandbaby was diagnosed w/ SMA 1 in August of 2021 and she was given Zolgesma because it would give her fighting chance at life. Unfortunately she passed away at 9 mos old 2021. My heart aches for her - She was so pretty with her big brown eyes and long lashes like her Momma- babygirl was always smiling. 🐣 I am very happy for the babies who were treated for SMA 1. I often wonder WHAT IF that disease was treated sooner than August ? Might Adira be living today ???? This heart ache I feel is like no other...

[@Riku7okester]

Even we already have the cures, but this medication is too expensive for us 😞

[@JoeT-re5ro]

My niece died from this in 2018 she was only 7 months old . Sma type1

[@bidishadasadhikary9235]

But it is so expensive.. Out of reach ☹️

[@logoritmika6954]

😮а сколько стоит укол сма в америке?

[@mahermx798]

Please please please what is the name of the drug i want to help my nephew she is 3 months old please i beg you to help me 😭😭

[@fatimasalman8921]

How is your nephew now?

[@alextheromanian]

One time injection costs 2.1 million dollars? Why?

[@aysegarip338]

i really can not understand that too, why????

[@Geli07]

Weil Forschung Milliarden kostet und die Kosten über den Preis reinkommen müssen. Es ist aber eine relativ seltene Erkrankung.

[@priabeauty8655]

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????

[@jawwadhanif1842]

Sorry to hear this. Start using TRIOLOGY (BIPAP) FOR HER.CONSULT WITH PEDIATRIC PULMONOLOGIST.

[@creativityhub1350]

The genetic sequence that Zolgensma used is public info. Their administration protocol as well.

[@rishidaadda4964]

Madam which theraphy

[@scottarnold9199]

For Any Assistance in SMA treatment contact this aid community via email: [e-mail].. They offer Spinraza treatment for lesser cost world-wide. They also assist my family in helping my 2yrs old neiphew recover from SMA with a cheeper cost.

[@paulinekinyua2155]

@@scottarnold9199 is this true..I need help for my baby girl

[@creativitywithggr2835]

Great. Make this treatment 's cost low as possible.

[@NurseSue425]

Can they do intra uterine testing ?

[@Imanimal-lover]

I read that an unborn baby can get a SMA 1 treatment in utero and develope normally after the birth.

[@gamzebiyak275]

my god helps to children with SMA

[@gondalakhtar5146]

Plz help out for mi.😢 My baby effective . He born five month ago But leggs movement zero. Where i go What should I do😢💕

[@lili19743]

Contact the drug manufacturer. A lot of times they will give you the meds for a fraction of the cost.

[@fatimasalman8921]

How is your baby now?

[@МаркоАрдалић]

This is miracle of modern medicine. I hope it helps other litle angels too.. but im preety sure this treatment is not cheap.

[@kabiruddin9134]

Can a Pakistani child access this Gene therapy.pls guide how is this possible

[@fatimasalman8921]

How is your baby now?

[@ruthirakumar9245]

God bless

[@mathijsdejong2126]

It did not helped our son.. he died 3 weeks ago after he got Zolgensma after 10 days old.. he improved in movement but he could not breath anymore after 3 month’s

[@ExTrAViruss]

Type 1 SMA? Waren er al symptomen bij de geboorte?

[@wasimjahagirdar2941]

Gane therapy cost

[@merhanfouad1197]

please reduce the price of zolgensma

[@SmilewithTanu-___Tanu-Nigam]

Hi I am from India , please advise how can I take this treatment to my baby boy he is 7 month old and he is suffering SMA type 1 and what is the cost in this treatment Please help me

[@katarzynaszlachtewicz9371]

It's something around 2 mln $...

[@zeenatashraf3119]

ab apka beta kesa hai?

[@SmilewithTanu-___Tanu-Nigam]

He is no more 😭

[@zeenatashraf3119]

oh m so sorry but kaya ap mje is deases ki mazeed info de sakti hain?

[@zeenatashraf3119]

@@SmilewithTanu-___Tanu-Nigam kindly replay me.

[@adeebishaq436]

I lost 2 sons to this genetic disorder

[@atheistmommy3710]

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.

[@syamsundar1099]

but its God who gave that wisdom and Knowledge to the scientists.....

[@Mixfruitvlogger2210]

Anybody pls give me contact

[@maulikjain3894]

why usa only gets for free and other people

[@muhammadshafay1731]

This treatment is not available in pakistan please help me.My son has SMA type 1

[@jawwadhanif1842]

Are you in karachi?

[@sajjadhaider9785]

Koi madad nhi kr sakta seway Allah Pak k

[@fatimasalman8921]

How is your baby now?

[@sabahattinkalya927]

ALLAH YAR VE YARDIMCINIZ OLSUN

[@nilaysaha8167]

I am from India ,my daughter also suffering from same disease ,but I have no option,as she is heading towards death,I am helpless if someone can hear my voice,plse reply

[@arulraj7722]

I am also from India,my daughter 4years old and she is also having same problem sma type 2…I don't know what can do.. please help me any one .

[@PriyaPandey-hw4gx]

We are unlucky one...we are lost our baby ...that time.... this therepy is not available..

[@nareshkumarsosa310]

Kids are dieing as their parents are not able to purchase that injection and they're not able to gone through the gene therapy. 😭

[@tifflove19]

God is Good!

[@janestellfox7751]

Knowledge is power. Making children so they suffer with a fatal disease is selfish. Gene therapy thankfully helps your daughter.

[@ravi271000]

I and my elder brother also SMA. Age 40 n 42. Can i know whats its drug price.

[@TerryParker-w1c]

005 Mills Ranch

[@kindergartenteacherglad7311]

Amenerrasulû bi ma ûnzile ileyhi mir rabbihi vel mû’minun, kûllûn amene billahi ve melaiketihi ve kûtûbihi ve rusûlih, la nûferriku beyne ehadim mir rusûlih, ve kalu semi’na ve eta’na gufraneke rabbena ve ileykel masir (2/285) La yûkellifûllahu nefsen illa vûs’aha, leha ma kesebet ve aleyha mektesebet, rabbena la tûahizna in nesina ev ahta’na, rabbena ve la tahmil aleyna isran kema hameltehu alellezine min kâblinâ, rabbena ve la tuhammilna ma la takate lena bih, va’fû anna, vağfir lena, verhamna, ente mevlane fensurna alel kavmil kafirin (2/286)

[@itsmine3276]

I salute Biological science, keep growing 👍

[@SoAdams-v2c]

Hettinger Corner

[@livesgood121]

This drug injection costs over 2 million US dollars

[@naweedshaikhh]

my Niece is suffering same condition but no treatment is here (PAKISTAN) 😥😥😥😥

[@fatimasalman8921]

@naweedshaikhh how is your niece now?

[@naweedshaikhh]

@@fatimasalman8921 she's died on 18 june 2022

[@drzeworyj]

it is indeed heartwarming, however, personally, knowing this, I'd never go for a second bio child but adopt instead. genes are just genes - they don't matter if you want to raise and love a little human, but they do matter when damaged as they cause complex diseases. Evelyn will still have issues and might suffer much more in the future as the way the medicine works has not been well established yet. I'd consider it my responsibility to save suffering to a little being by deciding not to bring it into this world and reduce existing suffering of another little being instead.

[@maiachoat4383]

They had a 1/4 chance of having a child affected with it. To have two children affected by it is a 1/16 chance so it was incredibly unlikely this situation was to occur, however i agree they shouldn't have had another child

[@drzeworyj]

@@maiachoat4383 it's the same chance for each child. we are not talking about the purely mathematical probability of both children getting the disease, but of a likelihood of a single child being born with the sickness, which remains the same). also, I didn't say they shouldn't have had another child - just that I wouldn't do it. their decision was their to be made...