Masha has received an injection of life saving drug Zolgensma on 1st of March 2021! This day came! Thank God! 🙏 Masha is the first child in Russia who officially received Zolgensma aged more than two years. Thank you everyone for help!

Маше сделали укол спасительного препарата Золгенсма первого марта 2021! Настал этот день! Слава Богу! 🙏 Маша - первый ребенок в России, официально получивший Золгенсму в возрасте старше двух лет. Спасибо каждому из вас за помощь!

It was a story 👇:

Masha is my friend's relative. So, she is a real girl and her disease is real as well. When a child's life depends on money, it's awful.....

HOW IT ALL STARTED

Masha Leontieva, https://www.instagram.com/masha17.06.2018/?hl=en, https://bf-m.ru/campaign/pomoshh-mashe/ was born 17.06.2018 as a completely healthy baby in a middle-class Russian family. Over the first few months, nothing seemed out of the ordinary, but by the time she was about four months old, her parents began to notice that Masha was "floppy" and weaker than her peers. She was unable to hold her head up and to roll. She did not start crawling at all. Doctors began an investigation and on 19.10.2019 they made an awful discovery: Spinal Muscular Atrophy (SMA), type 1, the most aggressive form of the disease.

SPINAL MUSCULAR ATROPHY (SMA)

is a lethal genetic condition that cause weakness and wasting in the voluntary muscles of infants and children. Infants with SMA type 1 can never sit unaided. They will also have a hard time feeding, swallowing and breathing. Cognition is not affected by the disease and infants with SMA type 1 are generally bright, responsive, and alert. Children who have SMA become weaker over time because SMA affects motor neuron cells that control muscles. Type 1 SMA progresses rapidly, with the weakening of muscles leading to frequent respiratory infections and usually death by the age of 2 - 4 if not treated. Fortunately, Masha has a borderline condition with SMA type 2 and 3 copies of so called SMN2 gene that makes the disease less severe https://smanewstoday.com/what-is-spinal-muscular-atrophy/, but she will never have an ability to stand, walk or even sit without assistance and support if untreated.

TREATMENT

It was widely known that it was not possible to cure spinal muscular atrophy, but research was ongoing to find new treatments. https://www.nhs.uk/conditions/spinal-muscular-atrophy-sma/treatment. Two medicines are approved now for SMA: SPINRAZA (Nusinersen) and ZOLGENSMA. Both are hugely expensive.

AveXis, a Novartis company, announced on 24th of March 2020, a one-time infusion of Zolgensma® showed rapid, significant and clinically meaningful therapeutic benefit in patients with SMA across a range of studies, including in patients treated presymptomatically, and sustained durability in patients now up to five years post-dosing and some patients more than five years of age. https://www.novartis.com/news/media-releases/avexis-receives-fda-approval-zolgensma-first-and-only-gene-therapy-pediatric-patients-spinal-muscular-atrophy-sma https://www.avexis.com/content/pdf/prescribing_information.pdf

Everything looked very optimistic for Masha but...

PRICE

1) Zolgensma's is the most expensive drug ever...$2.1 Million.... and it is not registered in Russia. Moreover the injection must be done before the patient's second birthday. But for those patients lucky enough to get it, it appears it can save their lives with only a one-time treatment. https://www.npr.org/sections/health-shots/2019/05/24/725404168/at-2-125-million-new-gene-therapy-is-the-most-expensive-drug-ever. Masha's parents have got an agreement in principal from Novaris company giving them a promise to send Zolgensma to Masha's doctor if they pay for the medicine.

2) The first two years of treatment with Spinraza cost around 50% of one Zolgensma infusion, but Spinraza treatments must continue for life at a cost of $375,000 each year. The four initial loading doses of Spinraza in the first year of treatment total $750,000. In Russia: Pricing negotiations under way; Biogen’s humanitarian programme in place for children with SMA type I under 2 years (max. 40 patients, subject to clinical criteria). 2,000 to 3,000 Russians believed to have SMA according https://smanewstoday.com/2019/08/29/russia-approves-spinraza-spinal-muscular-atrophy/ https://www.treatsma.uk/treatments/spinraza/spinraza-access-by-country/

In terms of quality of life, one IV infusion of Zolgensma is definitely more palatable than multiple spinal infusions of Spinraza each year, but unfortunately Masha's parents did not manage to raise money for Zolgensma before Masha's second birthday. They started Spinraza treatment, which hopefully will slow down SMA development. It has to be continued for life and does not give so good results as Zolgensma. Therefore Masha's parents will still try to join a trail which is testing different doses of Zolgensma in the patients with SMA type 2 from two to five years old (https://smanewstoday.com/2019/10/11/zolgensma-produces-promising-results-in-toddlers-up-to-5-years-old-with-type-2-sma-early-trial-data-show/). So, the project continues...

I know, that my fundraising target shown above looks unrealistic (I started with £1,000,000 target) as well as price of Zolgensma and Spinraza but we would like to start at least. Parents have raised 10 080 981 roubles (£116,211.93) by 06.06.2020, when I set up my page, which is just 6.4% of Zolgensma's cost - 157 250 000 RUB (£1,786,414.57) (see Instagram @masha17.06.2018), although they still hope for a miracle.

30.06.20. It looks that fundraising on this page goes very slowly. I decided to reduce the target here to £350, 000.00 to make it more realistic. Many people and charities help raising money for Masha, but more money is needed. The price of Zolgensma is unbelievable high.

Please do not hesitate to donate if you can. We haven't reached even 1% from our target yet :( Your one or two pounds will make a difference. Thank you very much for your help!

News:

27.01.21:

£1,459,505 (150 000 000 RUB) - 100,0%

Please check Masha's Instagram for latest news and videos https://www.instagram.com/masha17.06.2018/?hl=en

Money has been sent to Masha's parents account via PayPal today, 28.01.21. Thank you, my dearest friends and anonymous supporters, once more.

Hurrah! I would like to inform you all that FUNDRAISING for Russian girl Masha Leontieva IS CLOSED. Thanks for all your help, my dearest friends. You all are stars and should be proud of yourselves! You saved one little life! 🙏🥰🥳❤️ .

Урррра! Я спешу проинформировать всех о том, что СБОР для Машеньки Леонтьевой ЗАКРЫТ. Большое спасибо всем, кто не остался в стороне и помог приблизить этот день. Гордитесь своей щедростью, друзья. Вы помогли спасти одну маленькую жизнь 🙏👏🥰🌹💥