Antek is 15 years old and has a few simple dreams. He would like to go to school and meet friends. Breathe without a respirator and get out of bed on your own feet. His mother Barbara’s dreams are even simpler: “It is enough if he sits down, moves, eats something, or writes an email using his whole hand, not just his thumb.” A chance for both of them is a new drug, which in Poland… will not be.
Antek Ochapski has SMA1, an acute form of spinal muscular atrophy. His feeling and touch are not disturbed, and his cognitive and emotional development is normal. The boy graduated from primary school with honors and the third grade point average was 5,4. Now he is studying at a gymnasium in Konin on an individual basis at home. He returns to school once a week and integrates with the class. He has a lot of extracurricular activities: rehabilitation, meetings with a speech therapist and a psychologist. In addition, there are weekly visits by a doctor and a nurse. Only on Saturdays is she free, most often she goes to the cinema with her mother and friend Wojtek. He is very fond of science fiction movies.
Proper family care delayed the progression of the disease but did not stop it. As Mrs. Barbara says, they are fighting for each month. “Antek lives on credit. But he owes his life exclusively to himself. He has an amazing survival instinct, he never gives up on fighting until the end. We found out about the disease when he was four months old, most of the patients die between the ages of 2 and 4. Antek is already fifteen ”.
Until recently, all forms of spinal muscular atrophy were treated with only symptomatic treatment, including physical therapy, orthopedic therapy, and assisted breathing. This summer it turned out that the first effective drug to restore normal levels of the SMN protein, the deficiency of which underlies SMA, was developed. Perhaps soon, seriously ill patients will be able to put off the respirator, sit down, stand up on their own, go to school or work. According to experts, recovery still does not seem possible. At the moment, Polish families with spinal muscular atrophy are appealing to Prime Minister Beata Szydło to guarantee the availability of the drug under early access and reimbursement. Antek’s class, other middle school students and their families joined the action. Everyone sends emotional letters asking for help. “I would like to invite the Prime Minister to our home. Show her how we operate and how much depends on the refund. The new drug has given us hope that there is a chance for SMA patients. A disease that until recently was a sentence. “
The drug that can reverse the specter of inevitable death is already available in many countries in Europe and the world under the so-called Early Access Programs (EAP). Polish law does not allow such a solution. The provisions proposed by the Ministry of Health do not provide for the financing of a single medical visit necessary to receive the medicine, not to mention the costs of staying in a hospital.
SMA1 (spinal muscular atrophy) is a form of acute spinal muscular atrophy. The first symptoms of the disease, such as lack of progress in motor development, silent crying or easy fatigue when sucking and swallowing, usually appear in the second or third month of life. The patient’s condition worsens day by day. The muscles in the extremities, lungs and esophagus weaken, leading to respiratory failure and loss of swallowing ability. Patients never achieve the ability to sit up by themselves. The prognosis for acute disease is poor, SMA kills. It is the largest genetically determined child killer in the world. Spinal muscular atrophy develops as a result of a genetic defect (mutation) in the gene responsible for coding SMN, a special protein essential for the functioning of motor neurons. One in 35-40 people has such a mutation in Poland. If both parents are carriers of the defect, there is a risk that the child will have SMA. In Poland, the disease occurs with the frequency of 1 in 5000–7000 births and approximately 1: 10000 in the population.
PS
We are waiting for the reaction of the Prime Minister’s Office and the Ministry of Health.