Expanding list of rare diseases could make it harder to get life-saving therapy
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Starting next year, newborn screening for rare (orphan) diseases will be expanded in Russia. If earlier their list included only 5 positions, then next year there will be 36 of them. In theory, the early detection of one of these diseases should increase the chances of patients for a full life. But doctors fear that they will face a different situation: the number of rare diagnoses will grow by orders of magnitude, which will make it much more difficult to receive life-saving therapy, which is already extremely difficult.
Today, the term “orphan disease” has become commonplace and has even appeared in federal laws. The situation with drug provision for such patients has also begun to change, but remains difficult. There are some nosologies for which progress has been made, but there are many more patients for whom receiving life-saving therapy turns into a quest that not everyone is able to complete.
If the disease is included in one of the federal programs (for example, “14 high-cost nosologies”), treatment of patients is at least funded from the Russian budget, regardless of age and disability. If the responsibility for drug provision is assigned to the region (in the “regional list” – 17 orphan diseases), then how lucky. Some subjects of the Federation simply cannot afford such patients. And the only way to get treatment is to sue. However, there is another way out, which is called “medical migration”: to move to a region where the medical supply is more or less established. In addition, for many years we have maintained a monstrous practice: a person can receive treatment at the expense of the budget only if he has at least the second stage of disability. As soon as his condition improves during therapy, the disability is removed. Without constant medication, the patient’s condition begins to deteriorate rapidly – and sometimes he simply does not live up to the next course of treatment.
Elena Krasilnikova, head of the Rare (Orphan) Diseases Project Office of the N.A. Semashko National Research Institute of Public Health, says that today 28 diseases are covered by various programs in the country: “Since the introduction of the term “orphan disease” in 2011 for only 2 programs work for such patients – federal and regional, in which there are 28 diseases – and for 10 years the health care system organizes assistance only for them. No one knows when they will expand, although new orphan drugs are registered every year. The situation is especially difficult with adult patients: they can receive treatment at the expense of the regional budget only if they have the status of a disabled person. More than 40% of adult patients with orphan diseases are not included in any programs. In general, at least a third of all orphan patients are not included in federal registries, which means they are not provided with treatment. For example, acromegaly, Mediterranean fever, pulmonary hypertension are adult diagnoses with no chance of cure.”
“It is still unclear what to do with adult patients, how to ensure the continuity of treatment. A decision was made to extend the financing of drug provision for the wards of the fund created in the country up to 19 years, this is a big victory. But with those over 19, the problem has not been resolved,” says Yury Zhulev, co-chairman of the All-Russian Union of Patients.
According to the head of the Patient Care Center Elena Khvostikova, 23% of rare patients in the country are adults: “For example, the difficult situation with the provision of patients with Fabry disease: the region should treat them. We have a unique family in which 6 people are sick at once and 4 need treatment. The region is shocked by so many patients applying for the budget. We sued for three years: during this time, the children became disabled, and one adult from the 3rd group became a disabled person of the 1st. Or take Pompe disease. We have a federal list of 24 rare diseases that has never been reviewed in 11 years, although at first Golikova promised to review it every six months. And Pompe outside of any programs. There are only 40 people with this disease in the country, 20 of them are children. And everyone receives treatment only by court order. Some of the children who were diagnosed with Pompe at birth have already been lost. Today, the federal fund began to provide for children, but not for adults. We have a young man from Orel with Pompe disease – he was diagnosed in a timely manner, began to be treated, he goes in for sports, entered the Moscow Institute on a budget. In the summer he turned 18 – no one treats him anymore. To receive treatment, a disability of the second group is needed – you will have to wait until he gets into a wheelchair. This situation has become systemic in many regions, so it is necessary to legally include the treatment of such patients, regardless of disability.”
“In the regions, a general budget is allocated for the provision of medical care to all beneficiaries with disabilities, and the amount of funds is limited. Therefore, the authorities are forced to refuse patients, and they go to the courts. For example, in the regions only 40 patients with SMA (spinal muscular atrophy) are provided, and 60 are not provided,” says Natalia Smirnova, a member of the National Council of Experts on Rare Diseases.
Chief Physician of the Federal State Budgetary Scientific Institution named after Academician N.P. Bochkov Sergei Voronin notes that the Russian criteria for orphan diseases also entail serious problems with drug provision for patients. So, in our country, diseases that occur in 10 out of 100 thousand people are classified as orphan, and in Europe – in 1 in 2 thousand. “Formally, cystic fibrosis occurs in a ratio of 1:4000 and cannot be classified as orphan in our country. And from January 1, newborn screening is expanding from 5 to 36 nosologies, and the number of patients will increase tenfold – this is a big problem! For example, the prevalence of Fabry disease was previously estimated at one in 400,000. When they started mass testing newborns in Italy, they began to detect it in 1 out of 3,000 cases. From the new year, we will certainly face the situation that SMA will turn out to be a common severe disease.”
“Since the new year, many orphan patients can lie on the shoulders of the regions at once. If they are not included in federal programs, it will be very difficult for the region to cope. And the question will arise: how to treat them, where to get the money? – says the chief geneticist of the Novosibirsk region Yulia Maksimova.
Representatives of patient organizations believe that if the diseases are life-threatening, they should be included in the coverage area of the unified drug supply system. The availability of medicines should not depend on the region in which the person was born, how old he is, whether he is disabled or not. “We think we need to adopt a program of orphan and life-threatening diseases with uniform standards of support,” sums up Yury Zhulev.
Newspaper headline:
If you want to live – know how to sue
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