Evelina Falk was born on 7 June 2018. For mom and dad to daughter was welcome, the pregnancy proceeded quietly. The girl got a good Apgar score (a generally accepted system for assessing the status of newborns. – Approx. ed.), but literally 15 minutes ceased to breathe. Directly at the hospital she was connected to a ventilator (IVL).

the Diagnosis can only put in a few months. For parents it was a shock – in the family, no genetic diseases, no one remembers. Since then, Evelina has not parted with the ventilator, with the purchase of which has helped the charity Fund.

because of the pandemic, many are aware that just because the device is not connected: we need a tracheostomy. A tube that is inserted into the trachea. Now you can try to imagine what a tracheostoma in the neck of the two-year-old otherwise perfectly normal: active, cheerful, inquisitive.

Tatiana Pelc – mother Evelyn says that almost never leaves home: the tube should be washed, to process about 20 times a day. You need to disable and flush the unit itself, wipe it and the adapter. Walking with my daughter only near the house and a bit: Evelyn, like any other child her age can sleep in the stroller, and in her case it is unacceptable.

unlike many other orphan diseases Ondine’s curse can be removed if you install Evelyn stimulator phrenic nerve, the tube and the ventilator no longer needed. The price is a little more than 8.4 million roubles, this sum includes the cost of the stimulator, surgery and stay at a Moscow clinic. Fundraising the Foundation “Stesha”, its Director Marina Bulgakova she went through hell with a tracheostomy for his daughter.

Fate brought us together with the family’s Evelyn Falk. Very pleasant, kind, but exhausted by the struggle the parents, she says. – The treatment of orphan diseases would be supported by the state. When we are parents, we do not rush immediately to collect the money, and trying to resolve the issue within the framework of state guarantees.

the Fund has applied to the regional Ministry of health. According to Marina Bulgakova, the reply Minister said: to perform the surgery within the high-tech medical aid (VMP) and funds is not possible. Parents are recommended to apply to the Fund.

At the request of “RG” in the regional Ministry of health confirmed that the enumeration of the PMF is not included the installation of a phrenic nerve stimulator, patients with congenital Central hypoventilation syndrome, known as syndrome Ondine.

– We had to open the collection – continues Marina. – Now collected about 500 thousand – it is very small, as time goes on.

On the question of whether parents trying to prove something through court, Tatiana Falk answereddnoznachno:

– that requires time and money, and we have neither one nor the other.

Marina Bulgakov said that the fee for Evelina is very difficult.

I can’t understand why, but we will fight to the end, – says Director of the Fund.

the Theme orphan diseases, repeated in June at the Federal level, was the reason for the online conference in Nizhny Novgorod branch of “RG”. The experts discussed not only the situation with Evelyn Falk, but the overall prospects for the treatment of rare diseases in Russia. Funding is not the only problem, that is.

the Journalist Tamara Amelina writes on medical topics for Federal publications, very often in her field of vision reached into the orphan patients with their troubles.

– Every tenth child is born with a rare disease, she says. – Diseases are rare, but they are so numerous that the phenomenon itself is common. Now there are about eight thousand of these ailments, and every year, revealed another 250 new. Not treated 95 percent of them.

Except for the very expensive medicines, there is the problem of diagnosis. Not every General practitioner is able to define an orphan disease.

– to diagnose means to save the life and preserve health – continues Tamara Amelina. And treatment is not always expensive. For example, in case of insufficiency of biotinidase is also an orphan disease need timely injections of vitamin B7, Biotin. The extension of neonatal screening – this is one step to solving the problem with Troubleshooting.

Director of the Center for patient care, “Genome” Elena khvostikova long years fighting for his players “Ivannikov”, including in the courts. She agreed that the problem of diagnosis is acute, but it is not only the skills of the doctors. Sometimes the specialist is afraid to make an accurate diagnosis, even if you believe in him, the expensive treatment would entail the anger responsible for the allocation of funds officials. In her opinion, a solution could be to transfer the procurement of orphan drugs at the Federal level. And ideally, directly from manufacturers to avoid extra charges from numerous distributors that participate in raising the final price.

We are very encouraged by the news that the difference from the increased personal income tax the President of the Russian Federation proposed to send to the needs of children with orphan diseases. It’s unclear how it will all happen. Would like to see existing programs indexed and has not stopped. So the money went in plus to what is already being done. And most importantly, there should be equitable distribution of resources, tolerance to all diseases. There are patients who need non-registered drugs. And they also need financial�� support. And it’s unclear what to do with older organically. Today the patient 17, and he’s a kid and he is 18 tomorrow, so relief was denied? A lot of patients: children and adults, and they all need attention of the state, – says Elena khvostikova.

on 3 June 2020 “RG” said another citizen, who suffers from an orphan disease, Cristina Stolovoy. The girl has spinal muscular atrophy (SMA), she needs a very expensive drug attained at the expense of the budget is her mother Inna is trying to court. June 23 was supposed to be the first hearing, but, according to ina, the judge went on vacation until July 10. July 22 – the approximate date of the hearing, but when it exactly will be is unknown. Meanwhile, on 15 June the girl made a last injection of the drug “Spinrite” at the expense of the manufacturer. The cost of one bottle, according to the regional Ministry of health, about 7 million rubles. To “Spinrate” sick of SMA needs for life. In the year Kristine need to do four injections.