According to the All-Russian Society of Orphan Diseases, Daghestan is the number one region in Russia in terms of the number of rare diseases. Despite the law guaranteeing such patients free treatment, Daghestani patients complain that there is a lack of systematic medical care.

Nurmagomed Rasulov’s 13-year-old daughter, Dzhamilya, was diagnosed with thalassemia, a hereditary blood disease, at birth. Rasulov told OC Media that they only received medicines based on that basic diagnosis and receive nothing for the illnesses accompanying her disorder. He says these include diseases of the liver and pancreas as well as heart failure, which they have to buy medicine for these themselves. 

He says that by law, when submitting receipts to the state insurance company, the state must cover at least 50%, but this does not happen.

Rasulov also complained that there are an insufficient number of hospital beds in south Daghestan for patients to receive blood transfusions.

‘Waiting in the queue for two months means a deterioration [in her health]. The Daghestani Federal Service for the Oversight of Consumer Protection and Welfare responded to my complaints by saying that they have no leverage over the Ministry of Health of Daghestan’, he said.

Indira Yunusova, the chief pediatric haematologist of Daghestan, told OC Media that there were only 200 patients with thalassemia in all of Russia, 140 of whom were registered in Daghestan. According to her, 76 of them are children. She said that the actual numbers may be higher.

Orphan diseases

Orphan diseases are diseases rare enough that the market is too small to support research for treatment. Irina Myasnikova, chairman of the All-Russian Society of Orphan Diseases, told OC Media that there are more than 2 million people suffering from such diseases in Russia. According to her, Daghestan has the highest concentration of these people.

The Ministry of Health of Daghestan told OC Media that there are around 200 patients with orphan diseases in the republic — 126 of whom are children.

Aminat Gamzatova, a geneticist at the Republican Medical Genetics Center of Daghestan, told OC Media that the main causes of such diseases are related marriages, geographical and ethnic isolates (Azerbaijanis, Tabasaran, and Nogai), as well as religious bans on abortion.

According to Gamzatova, there are 24 types of rare diseases in the official Daghestan register, although in reality there are many more. 

She told OC Media that the most common orphan disease in Daghestan is mucopolysaccharidosis, which is when the body lacks the enzyme responsible for eliminating toxins. As a result, a child’s skeleton develops incorrectly leading to a loss of hearing and teeth.

‘Lack of funding’

Asiyat Dzhamaludinova, a 35-year-old resident of Makhachkala, was diagnosed with mucopolysaccharidosis when she was 13 years old. She told OC Media that her diagnosis was known since birth, as this anomaly runs in her family.

‘My cousin died of this disease a few years ago. She was 20 years older than me. Previously, there was no treatment for this disease — there were no medications. Now the medication exists, but it is very expensive’, Dzhamaludinova said.

To manage the disease, Dzhamaludinova needs to take drugs costing ₽127,000 ($2,000) every week.

‘I don’t have that kind of money, so each year it gets worse’,  says Dzhamaludinova.

Despite the law guaranteeing patients with orphan diseases the right to the free provision of medicines, according to Dzhamaludinova, the Ministry of Health of Daghestan cannot provide her with the necessary drugs. She was told by the Ministry that this was due to a lack of funding. 

Seeking treatment through the courts

According to Myasnikova, as of January 2018, only 42% of adult patients and 62% of children with rare diseases were provided with life-saving drug therapy in Russia.

Myasnikova says that the majority of patients with such diseases seek the right to free medication ‘through the courts and the intervention of the prosecutor’s office, but not everyone has the time and money to take legal action’.

According to her, there are regional and federal programmes to finance the treatment of orphan diseases.

The Ministry of Health of Daghestan told OC Media that the federal budget currently finances the treatment of four rare diseases: haemophilia, cystic fibrosis, pituitary animism, and Gaucher disease.

These diseases are included in the ‘Seven High-Cost Diseases’ programme, which is also funded from the federal budget. To enrol in the programme, a patient must be listed in the federal register of rare diseases through the Ministry of Health.

According to Myasnikova, when the federal programme was launched in 2008, it was designed for 17,000 patients. Today, there are ten times that number in need of treatment, but funding has remained the same.

In addition to the federal programme, there is the ‘24 Life-Threatening and Chronic Progressive Rare Diseases’ regional programme, which is funded through the Mandatory Medical Insurance Fund of each region. Patients who are not listed in official registries fall within the scope of the ‘regional benefits’ programme.

Myasnikova told OC Media that the All-Russian Society of Orphan Diseases is trying to include thalassemia, which is currently included in the regional programme, in the federal one.  According to her, from 2019, an additional five rare diseases were included in this programme.

A broken mechanism

Patimat Amirbekova’s daughter was born with anhidrosis — congenital insensitivity to pain — a very rare hereditary disorder of the nervous system.

Amirbekova told OC Media that despite her daughter losing her pelvic bone and being confined to a wheelchair, she cannot get any protection for her child’s rights.

‘I was told at the genetic centre in Moscow that people with such a disease are no longer found in Russia. No hospital takes us for treatment’, Amirbekova said.

Indira Yunusova, the chief pediatric haematologist and oncologist of Daghestan, told OC Media that mandatory prenatal diagnosis — screening to identify genetic diseases in the womb — should be state policy in Russia. She added that not everyone can afford this procedure at their own expense.

According to Yunusova, the criteria for selecting diseases for screening depends on the prevalence of the disease throughout the country and on whether they are amenable to effective treatment.

‘There is no working mechanism yet that would define which of them [rare diseases] should be subsidised in the first place and in what amounts, since treatment is expensive and the regions cannot cope with this financial task’, she says.