A 47-year-old woman from Vilnius, who works as a veterinarian, says that she was already a bit bigger as a child, but there were no serious health problems at that time.
“However, sometimes I just lacked strength and stamina, which kept me from participating in physical education classes. For her part, my mother was surprised and said that she knows quite a few big people who “drive like tanks”, remembers Diana.
Both in childhood and youth, she avoided going to doctors – she usually went only for preventive measures required at school. So no one suspected that Diana’s body was slowly progressing with a hereditary disease. Because more often doctors come across SRA when the disease is in babies, and not in adult patients. Unlike adult patients, babies suffer from type 1 or type 2 SRA, which progresses rapidly, significantly impairing the child’s motor development.
The majority of rare disease cases are diagnosed during the first months of a baby’s life. In Lithuania, this diagnosis is made in an average of two newborns per year. There are four types of this disease in total. The fourth type is characterized by the smallest motor impairment, which is often undetectable.
Rare has heard of the disease
The interviewee has the impression that there is a lack of information about SRA both for the public and for family doctors. She admits that she has experienced stress due to medical errors and incorrect diagnoses.
“Fortunately, I am a veterinarian myself and I have a good understanding of how a living organism functions, of nerves, muscles, organs, etc. systems. This prevented me from going astray,” observes the patient.
The Vilnius resident is grateful to the doctor at her polyclinic, who helped her find the right path and referred her to the Vilnius University Hospital’s Santaras clinic for neurologist consultation. The tests necessary for differential diagnosis were carried out there. Finally, the diagnosis was confirmed by the Center for Medical Genetics. Later, Diana applied to the Nerve and Muscle Center of the Kaunas Clinics Hospital of the Lithuanian University of Health Sciences and met excellent specialists specializing in nerve and muscle diseases.
“The geneticist revealed that I had 25%. the possibility of getting sick and, unfortunately, this “unlucky ticket” fell to me,” shares Diana.
The diagnosis of an incurable disease was a strong psychological blow.
“My husband and I had many plans and hopes, and suddenly it became clear that we had to stop. The possibility of doing the work I love became very vague, because I felt that I was starting to lose strength – I would just collapse at the end of the work day.
The dire situation was driving me crazy, and I was driving my loved ones crazy. But they supported me a lot, so I didn’t break down,” says Diana and adds that she also appreciates the help and advice of the “Sraunija” association. This association unites people suffering from various nerve and muscle diseases in Lithuania.
SRA drugs for adults – already reimbursed
In our country, medical treatment of SRA reimbursed by the Health Insurance Fund for adult patients started to be provided quite recently – at the end of 2021. Until then, adults could only get the medicine as a continuation treatment – that is, when children with the disease turned 18.
Medicines that help control the disease and stop its progression represent one of the most significant breakthroughs in the history of genetic disease treatment. In total, three drugs are known to doctors treating SRA patients, two of them are suitable for adult patients. Some of these medications were included in the list of reimbursable medications in Lithuania last fall, while others are prescribed based on the individual patient’s case, after applying to the Reimbursement Commission for the Treatment of Very Rare Human Health Conditions. According to doctor neurologist Evelina Grušauskienė, we can be happy that treatment has become much more accessible to patients with spinal muscular atrophy.
For her part, Diana says that the treatment is helping her a lot. The patient highly appreciates the professionalism of the team of the Center for Nerve and Muscular Diseases: neurologists, geneticists, electrophysiologists, radiologists and physiotherapists. The combined forces of specialists helped the woman become stronger both physically and psychologically.
SRA symptoms can be confusing
Dr. E. Grušauskienė notes that patients themselves cannot recognize SRA on their own. According to the neurologist, when SRA symptoms start bothering an adult, he or she often thinks that he or she is simply not being physically active enough, trying too hard or “investing in himself” too little.
When in fact the real cause is a genetic disease. It’s just that residents or even family doctors have usually not heard anything about this disease.
A person with SRA usually experiences progressive muscle weakness, finds it increasingly difficult to exercise, gets tired of climbing stairs, and suffers from cramps or muscle spasms. These symptoms are a sign that a consultation with a neurologist may be necessary. Diagnosis and treatment of the disease should be entrusted to specialists specializing in neuromuscular diseases.
In total, several tens of SRA patients are currently being cared for at the Kaunas Clinics Nerve and Muscle Center of the Lithuanian University of Health Sciences Hospital, which belongs to the European reference networks.
But there may be more patients in Lithuania – the disease may simply be hiding under another previously established, but not fully specified, diagnosis.
