Our son Bernardas was recently diagnosed with a severe genetic disease: Duchenne muscular dystrophy (DMD). His particular condition - an exceptionally rare form of DMD caused by mutations in the nonsense-type dystrophin gene - was diagnosed in December 2019.
It is an unforgiving condition that destroys thousands of muscle fibers every day. It threatens to deprive our son of the ability to walk before he is 7. Without treatment it will take his life before he ever reaches adulthood. But we have hope.
There is medicine suitable for Bernardas' particular condition that will help slow down the course of the disease and - as science continues to advance - achieve a full recovery. Unfortunately, the treatment costs 268,000EUR annually, and the Ministry of Health of Lithuania did not find the willingness or the ability to cover its costs. Time is especially ruthless to Bernardas - his muscular tissues, including those of his heart and lungs, disappear irreversibly every day. However, there is no doubt that in the next 5-10 years, methods will be discovered not only to temporarily halt the processes of the disease but also to completely cure it.
We cannot abandon hope that we can extend Bernardas' childhood, save his life and make the public more aware of the problems faced by people with extremely rare diseases. For these reasons we have set up the Bernardas Aid Fund (Bernardo Paramos Fondas).
We ask for your help - any contribution from you is important to Bernardas. Thank you.
Gintarė ir Rytis Rudzinskai,
Early morning of November 18, 2016 a healthy and bright boy was born in Vilnius, Lithuania. The child was sensitive, gentle and playful. Bernardas grew embraced by love and got stronger with each passing day. Over time we became worried about our son's slightly delayed development - the ability to roll over, crawl and walk.
The doctors reassured us that all children were different and that such a delay was nothing to worry about. We became concerned during the third year of Bernardas' life, when we noticed that our boy was significantly less agile compared to his peers. It was painful to watch him stumble, fall when jumping and constantly ask to be carried instead of walking on his own.
We consulted the doctors again and expressed our concerns. In September of 2019 blood tests were performed. We were shocked to learn that the results of the tests were equivalent to someone's who had just survived a tragic event or had just experienced a heart attack. The fact that the child had not experienced a trauma or any heart problems indicated that our son had another serious condition. As one of the possible diagnoses that came with such blood test results, doctors mentioned Duchenne muscular dystrophy (DMD).
A long and extremely difficult phase of further research followed. What was going on with our son, who had previously appeared healthy? Finally, in December of 2019 genetic testing confirmed that the child suffered from a rare disease - DMD. The studies also revealed a severe form of DMD caused by a mutation in the nonsense-type dystrophin gene.
DMD is a rare genetic disease that affects one in 4000 - 5000 boys. The symptoms of this disease begin to appear in the 3rd or 4th year of life, as the disease manifests through a continuous process of muscle loss and degradation throughout the body. Over time the child develops trouble walking and starts to suffer from various heart and respiratory disorders. Life expectancy is cut short to around 24-26 years, including a high risk of premature death due to heart or lung failure.
Bernardas had been diagnosed with the rarest form of DMD caused by a nonsense-type mutation in the child’s DNA code. This form of the disease affects an average of 1 in 1 million people worldwide. As the disease progresses, the child develops a severe disability and by the age of 7 already requires a wheelchair. Lung and heart functions weaken and the child's life becomes extremely fragile due to high susceptibility to infectious diseases.
Although DMD is an incurable disease, Bernardas' rare form of the disease can be managed with a drug that is already available - Ataluren / Translarna. The drug helps prolong survival and delay complete disability. Delaying irreversible and complete disability of the child is vital. The rapid advance of genetic engineering is encouraging. There are strong reasons to believe that a cure for DMD could be available within the next decade. Research shows that Ataluren / Translarna delays disability for at least 4-5 years and helps maintain stronger lung and heart function and significantly reduces the risk of premature death. By taking Ataluren / Translarna Bernardas could maintain basic motor and vital functions until the cure is available.
Unfortunately, the Lithuanian health care system does not by default ensure access to advanced drugs such as Ataluren / Translarna. Despite the fact that Bernardas' doctors are convinced and unanimously agree that treating Bernardas with Ataluren / Translarna is absolutely necessary, the Commission of the Ministry of Health - which deals with the reimbursement for extremely rare diseases - refused to compensate for Bernardas' treatment.
The decision of the Commission of the Ministry of Health, which decided that the healthcare budget could not afford 268,000EUR for Bernardas' treatment, was adopted in violation of a number of human rights laws and ignoring the precedents formed by Lithuanian courts. The Commission decided to not prescribe treatment only after a superficial assessment of the recommendations and conclusions of the medical council. Neither we, the parents, nor Bernardas' doctors were allowed to take part in the proceedings; the Commission took no action to seek alternatives to provide Bernardas with the necessary and appropriate treatment.
We are currently exploring all possible legal means to have the Ministry of Health reconsider the request to reimburse or provide treatment for Bernardas. But the litigation can take years. Bernardas' disease is ruthless - every passing day irreversibly destroys muscles, reduces the ability to move and weakens vital functions. Bernardas' treatment is a matter of urgency and we cannot afford to wait years to challenge the Commissions's decision. Bernardas needs medicine now.
In May 2020, we established the Bernardo Paramos Fondas (Bernardas Aid Fund). We appeal to all and each one individually - if you could contribute to the battle for Bernardas' health and survival. Please donate an amount acceptable to you via the payment form below or by making a payment order directly to the Bernardo Paramos Fondas (Bernardas Aid Fund) account. All the funds raised will be used to fund Bernardas' treatment with Ataluren / Translarna and to educate the public about the difficulties faced by patients with extremely rare diseases. We would be very grateful if you could share Bernardas' story with your friends, relatives, colleagues or other people of good will.
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