Lately, Ukrainians were more frequently receiving calls to help children with spinal muscular atrophy (SMA). At first sight, it may seem that a significant number of SMA patients, requiring an urgent and expensive treatment followed by their parents' fundraising, appeared simultaneously.
Why does this happening, and is it feasible to treat SMA patients in Ukraine?
Spinal muscular atrophy is a rare genetic disease affecting the part of the nervous system that controls muscle movement. It is caused by a mutation in the motoneuron survival gene 1 (SMN1), leading to a shortage of the SMN protein.
Progressive muscle weakness leads to loss of ability to move, swallow, and breathe. A specific feature of SMA is the wide range of severity of its clinical symptoms - from low-symptomatic adult forms to neonatal disease with inevitable, up to recent lethal prognosis.
At the same time, SMA does not induce cognitive impairment. Children are the same as their peers in intellectual development or even have IQ scores above the age norm.
There is no single registry of Ukrainians with SMA. Due to different estimations, the number of SMA patients range from 200 to 300. Over the past three years, the average annual number of people with SMA in Ukraine remains – 15, including 9-10 infants with the most severe type of SMA.
The mortality rate is approximately six patients per year. SMA is the most common cause of infant mortality through hereditary diseases.
One out of 45 individuals is not aware of having SMA. If both parents possess the "defective" gene, there is a 25% chance that the child will be born with SMA diagnosis.
Until recently, there were no remedies for SMA in the world and Ukraine, in particular.
A couple of years ago, pharmaceutical companies produced innovative drugs, drastically changing the disease course by promoting the production of the protein that are not generated or produced poorly in SMA cases.
Two SMA etiopathogenetic medicines have so far been registered in Ukraine. A third medicine (gene therapy) has not received Ukrainian registration yet.
These drugs prevent the disease progression and improve the general condition of the patient. Each of the medicine has its peculiarities. The drug, which should be injected into the spinal cord within a hospital setting, is not recommended for children and patients with, for instance, scoliosis. There is a drug with oral infusion (drops in the mouth) that significantly expands the possibilities of SMA treatment. This drug is convenient and safe for home usage and recommended almost without restrictions on age or severity of the condition.
Besides, genetic therapy exists, stated as a single injection and the most effective one for infants before the appearance of the first symptom, which also has restrictions on normal liver functioning, blood tests results, age, and weight of the patient.
Treatment of SMA is extremely expensive. There is no governmental program for the treatment and support of such patients in Ukraine, so families fundraise even without considering possible risks, giving all hopes to the one injection, which might cure SMA, regardless of whether such treatment is prescribed for their child.
Doctors must understand the specifics and risks of using the etiopathogenetic treatment and carefully prescribe a specific drug based on determined patient profiles. On the other hand, the government must count all patients with different types of SMA to ensure equal access to treatment.
Families with SMA receive social state support, but this is nothing while comparing to the expenses needed to maintain the satisfying life quality of a child. Families can also get several rehabilitation treatments at medical centres using state funds, but this is not enough for high-quality results. Parents still need to organize additional medical consultations and massages, buy special nutrition, equipment for artificial lungs ventilation, etc.
Pharmaceutical manufacturers also support SMA patients - 55 Ukrainian children with the most severe first and second types of SMA receive expensive medications under the international pre-registration access program.
Patients with SMA must begin treatment as early as possible before the clinical complications of the disease appear. Timely diagnosis is crucial, and complex newborn screening should help. In Poland, for example, such screening is already in place. So, children receive treatment at an early stage of disease progression.
In Ukraine, SMA is currently not included in the national newborn screening program, and diagnosis is often made with a considerable delay already when the first disease signs appear. Doctors’ and parents’ awareness will help to prevent rapid disease development and initiate timely treatment.
To sum up - more needs to be done to improve medical care for SMA patients and other hereditary neuromuscular diseases:
- Introduce the genetic diagnostic on the state level (including carrier).
- Introduce the detailed registry of SMA patients at the state level and enable clinical and epidemiological studies.
- Develop national standards of medical care and patient guidance, with subsequent audits of their implementation, and improve inpatient and mobile palliative care for SMA patients and other hereditary neuromuscular diseases.
- Organize the work of national highly specialized multidisciplinary teams of experts to provide regular medical care to patients; ensure their participation in virtual consilium for advising regional specialists in complex cases, granting them the status of experts of the Ministry of Health of Ukraine.
- Establish Interregional "Expert Centres" in several regions of Ukraine with the possibility to consult using telecommunication technologies.
- Improve the provision of drugs and equipment to patients, also by introduction of innovative economic models.
Children with SMA must and could receive modern treatment in Ukraine. They should be full members of society and have equal access to education, employment, and social protection to live fully and independently in adulthood.