The Circle of Kindness Foundation for Supporting Children with Severe Life-Threatening and Chronic Diseases has approved more than a thousand applications for providing medical care to children with spinal muscular atrophy, the organization told RT.
SMA is a severe genetic disorder in which only three medications help.
Two of them - "Spinraza" and "Evrisdi" - require lifelong admission, and one - "Zolgensma" - is designed for a single dose.
Medications for SMA are very expensive: the first course of Spinraza costs 48 million rubles, and the price of Zolgensma is 160 million rubles.
The Circle of Kindness has begun the procurement procedure for medicines, and some young patients have already received Spinraza injections.
RT spoke with the parents of children who were the first to gain access to medicines from the foundation.
"They said that the cheeks are heavy"
On February 26, five-month-old Sonya Garipova received the first injection from Spinraza, the second injection is scheduled for Friday, March 12.
The Garipov family lives in a small village 40 km from Syktyvkar, Komi Republic.
The girl's mother, Tatiana, says that Sonya feels "just fine, sociable, in a great mood."
The Foundation bought six ampoules of Spinraza for the baby - this will be enough for a year.
© Photo from personal archive
The disease began to manifest itself when the baby was a month and a half.
“I noticed early that something was wrong, because Sonya is my third child,” says Tatiana Garipova.
- My daughter was born large, 4.5 kg, and when she stopped raising her head, everyone at first said that her cheeks were just heavy.
Then her legs began to weaken.
The doctors considered that it was okay, ordinary hypotonia, but the mother's heart felt that something was wrong. "
Tatiana knew about the existence of such a disease as SMA even before the birth of her daughter: “We helped a little when we saw fees for medicines for emoticons, including Masha Leontyeva.
The collection was closed for her on January 27.
And on the same day I learned Sonechka's diagnosis ”.
The Garipov family did not even have time to open their own collection: medical aid arrived very quickly.
“We hoped for help from the state, and when we learned that the Krug of Kindness had decided to buy Spinraza for a child from Komi, we immediately thought that it was about us, because Sonya is the only“ smiley ”in the region.
Of course, we were very happy.
It's too early to talk about the changes, but it seems to me that her hands have become stronger.
My daughter has every chance to start walking, running, ”explained Tatiana.
Sonya's mom added that the family intends to open a camp for Zolgensma, since the girl's condition now allows waiting for the most expensive medicine in the world: “We have now received supportive therapy with Spinraza, but it does not cure, but only stops the progress of the disease.
Therefore, more serious measures are needed, that is, the injection of Zolgensma.
Now we are preparing for the training camp.
We also participate in a lottery organized by the manufacturers of this drug.
If Sonya is lucky and she wins, we will send the collected money to another child. "
"We were lucky"
“I was like a blind kitten: I didn’t know anything about SMA and simply didn’t understand where to run, who to turn to,” recalls Irina Snegireva, a resident of Severodvinsk (Arkhangelsk region), Vika’s mother.
When the girl was one month old, doctors diagnosed muscle hypotonia, and two weeks later they found the absence of two reflexes in the limbs.
In the direction of a neurologist, we went to the hospital, passed a genetic analysis, and on February 10, the diagnosis became known - SMA.
“The doctors worked very quickly both with the analyzes and with the submission of the questionnaire to the fund.
Everyone was afraid to lose time, because the disease began to progress rapidly, and Vika lost her acquired skills, ”says Irina.
© Photo from personal archive
Now the baby is almost four months old.
She received the first injection from Spinraza on February 21, and the second on March 7.
“I see Vicki's progress after the injections,” says her mother.
- My daughter is so cheerful, sociable, she always smiles at the doctors, although I know that it is hard for her when they take tests from her or connect to non-invasive ventilation of the lungs.
She has developed an interest in toys and tries to suck her nipple.
We swim, do exercise therapy, breathing exercises, because we need to increase the volume of the lungs. "
Like Tatyana Garipova, Irina Snegireva hopes to receive another medicine for her daughter later: “We understand that we are lucky and are very grateful for Spinraz.
But we hope for Zolgensma from the fund, and for our part, we will also try to raise funds for the drug. "
"I'm glad we weren't abandoned"
Sasha Savin from Kotlas, Arkhangelsk Region, is the oldest of the “emoticons”, who was among the first wards of the foundation.
On April 20, the boy will turn 12 years old.
His mother Natalya recalls that in infancy her son developed according to age: he began to roll over, crawl, sit and walk on time.
But in the year and three months, the boy's hands began to tremble from time to time, he began to walk strangely, like a duck.
At the end of 2011, two-year-old Sasha was diagnosed with a terrible disease.
“Then the whole life flashed before my eyes,” adds Natalia Savina.
© Photo from personal archive
At that time, there were no medications that could help with SMA in the world, so I had to do with what I have: massage, exercise therapy, drugs that alleviate symptoms.
But last year the regional Ministry of Health provided the boy with a “loading” course of therapy with “Spinraza”, and this year the drug was bought by “Krug of Kindness”.
The next - the fifth - injection is scheduled for March 25th.
"Sasha's mood is excellent, he is satisfied, very happy, he is waiting for the medicine," Natalya shares with RT.
- We have something to boast about: now the son is already making 416 steps, although he could have made only three before the first injection.
Sasha feels the strength in himself, demonstrates to me how he can independently move his treadmill to the wall.
He has become more resilient: from the entrance to the car comes without a stroller, but so far with our support. "
Sasha leads an active lifestyle, plays table tennis, brings medals and awards.
He also likes to play darts and checkers.
He is a fifth-grade student, almost a perfect student, most of all he likes mathematics.
True, she studies at home, because she still does not walk confidently to the end.
“As a mother, after the foundation took us under its wing, it’s much easier and calmer for me.
I am glad that we were not abandoned, that the treatment continues.
The most important thing is that we have a result, ”added Natalya Savina.