The boy was born healthy, but he soon noticed alarming signs: the blood tests were unexpected.

The boy’s parents created a special website that shared the boy’s medical history and why they needed help with money. According to R. Rudzinskas, the time in the treatment of a child is very important, because the changes that have taken place can be irreversible.

“In early 2016. November 18 In the morning, a healthy and pregnant boy was born in Vilnius. He is a child who has been sensitive, gentle, and playful from an early age. The baby, surrounded by great love, grew and grew stronger with each passing day, but we parents were concerned about the son’s slightly delayed accomplishments: the ability to roll over, crawl, and walk, “says one special page created to support the child.

According to Bernard’s parents, although doctors said the children were different and that such a delay probably didn’t mean anything, they were more concerned with Bernard’s third year of life when he noticed the boy was being left behind nimbly.

“We reacted painfully that he was unable to jump, he turns around and constantly asks for a report rather than going alone. We turned to the doctors again to express our concern for the son. 2019 Blood tests were performed on the boy in September. Unexpectedly, the results were the same as for a person who survived a tragic event or as a person who experienced a heart attack.

Although the boy did not have political trauma or heart problems, the data showed that the son had something very serious and, as one of the possible suspicious diagnoses with such blood tests, doctors first mentioned Duchenne muscular dystrophy to us. “

The shocking blood tests, Rudzinska said, were followed by a long and psychologically extremely difficult phase of further investigation with the increasingly painful question of what was happening to the son, who previously seemed healthy.

„2019 December 16 Geneticists at the Santara Clinics have confirmed this diagnosis and identified the exact cause, a pointless point mutation in exon 79 of the dystrophin gene in the DNA strand. Of all Duchenne muscular dystrophy cases, only about 10-13 percent. cases are caused by pointless point mutations, therefore it is a specific form and the rarest form of Duchenne muscular dystrophy disease (nmDMD) ”, explained R. Rudzinskas about the complicated diagnosis.

Rare genetic disease

Duchenne muscular dystrophy is a rare genetic disease that affects one in 4,000-5,000 children. The symptoms of this disease begin to appear in the third to fourth year of life, as the disease progresses through a continuous process of muscle loss and breakdown throughout the body. Over time, the child quickly becomes difficult to move, walk, and various heart and respiratory disorders. Life expectancy with the disease is approximately 24 to 26 years, but there is a high risk of premature death due to heart or lung failure.

As the child’s parents have said, this syndrome is basically considered an incurable disease, but it is the form of nmDMD that currently has an innovative drug that directly affects the cause of the disease.

“The drug’s principle of action is that it allows the human body to ignore the faulty exon point of DNA, and therefore helps the body create a more functional dystrophin protein.” Recent research shows that by using the necessary medicine and at the same time ensuring the child a standard of care for these patients t. and. physical therapy, occupational therapies and corticosteroid treatment like Deflazacort, a child’s total disability is delayed by an average of 3.5-4 years, “said the boy’s father.

He also pointed that out in 2019. December 16 The geneticists at the Santara Clinics, who diagnosed the exact diagnosis, concluded in their conclusion that their son was fit for treatment with an innovative medication. Š. meter. February 14 The Council of Physicians of the Kaunas Clinics of the Lithuanian University of Health Sciences evaluated the son’s condition and also confirmed that his son is suitable for treatment with this medicine.

The family petitioned the Ministry of Health Extremely Rare Medical Conditions Compensation Commission (SAM) for a request to reimburse Bernard for the purchase of the drug, and the same day the Lithuanian Association of Pediatric Neurologists presented its conclusion that the child was suitable and effective. .

“Articles and scientific studies proving the effectiveness of the drug have been submitted to the Commission. In addition, the Metro State Drug Control Commission. March 4 submitted a letter to the commission stating that the drug met the commission’s requirements, iy stated that the effectiveness of the drug is reasonable, the drug is suitable for our child and can reduce the child’s disability or prevent it from growing, “said R. Rudzinskas.

Decided not to compensate

Treatment with this drug is very expensive: the course costs 268,000 euros a year, according to the parents. However, even after all the doctors’ findings were presented to the commission, their request for reimbursement of treatment was rejected.

“In spite of all the above circumstances, the Metro Commission. April 14 decided, although in agenda item 9, that nmDMD should be considered a very rare condition in human health, but decided not to reimburse the cost of purchasing the medicine because, in particular, the Commission considered that the patient had not yet received treatment with deflazacort (that is, steroids); and secondly, the PSDF (Delfi) budget does not provide funds for the treatment of this rare condition ” .

According to the father, this commission decision was made for extremely bureaucratic reasons and is not based on any real evidence or argument. According to him, first, deflazacort is not an alternative to the medicine they prescribe, since it is a completely different principle of action and they are not interchangeable and must be used together, since the former should be considered as a standard of care for such patients and not as a specific treatment. Second, R. Rudzinskas commented, the commission’s decision due to the fact that there are no funds in the budget for the treatment of this condition is based on a fundamentally illogical and flawed calculation model.

“In its assessment of reimbursement options, the Commission assessed the cost of acquiring without drugs and the need for a budget for a specific patient and period, but decided that the budget would not be sufficient to treat hypothetical patients with 15 nmDMD during 10-15 hypothetical years, “he said.

However, Bernard’s father did not give up and emphasized that the commission, in making a decision relevant to them as the patient’s parents, did not create any conditions for explaining or participating in the process. They also appealed to SAM’s Board of Appeal, but SAM refused to listen. The man, based on the jurisprudence of the previous courts, waits for his appeal to be examined.

“As long as the bureaucrats formally refuse to prescribe medications and send us to sue for an elemental opportunity to defend their rights, the years of our children pass and have irreversible consequences. That is why we have taken the initiative to raise the necessary amount ourselves and with the help of people of good will, so that we can start Bernard’s treatment immediately, “summarized R. Rudzinskas.

At the moment, parents desperately need the help of all people of good will. You can help them by going to their page HERE or using the information below:

When making a transfer to the fund account:

Recipient: Bernard Support Fund

Legal form: Charity and support fund.

Recipient code: 305542844

Account number: LT157300010162304939

SWIFT code: HABALT22

Bank: SWEDBANK