ABRIS IS GIVING BACK
Ábris is now 19 months old – and this is nothing short of a miracle. ’Why?’, you might wonder. Because Ábris has type 1 Spinal Muscular Atrophy, and babies diagnosed with SMA1 usually do not live past the age of 1.
SMA is a genetic disorder, the mutation in both copies of the SMN1 gene, which results in little or no functional SMN (’survival of motor neuron’) protein production. This manifests itself in the atrophy of skeletal muscles and mobility impairment. Type 1 SMA is the most severe form of the disease, characterised by a quick and unexpected onset occurring in the first six months of a baby’s life. And that is what Ábris has had to face. He was developing well until he was 5 months old, when—from one day to the other—his movements changed drastically. He moved less, and with decreasing agility. Laboratory tests confirmed the doctor’s diagnosis that he has type 1 SMA, giving him 20% chance to survive his first birthday.
The boy and his mother, Flóra, however, are not ones to give up easily. After extensive research (and the essential fundraising), Flóra found a Belgian neurologist team that gave Ábris a chance to try a new injection treatment, starting in June 2016. And Ábris has beaten the odds: he has been reacting to treatments extremely well. He received 5 injections so far, and he has been improving markedly. He has recently returned from Italy, where he was fitted for a corset, leg braces and a wheelchair – and he is close to wheeling the latter by himself.
The future? Although the treatment saved Ábris and has significantly improved his life and condition, it is not a cure for the disease, but a lifelong must-have for all patients—along with physiotherapy, massages and swimming. His mother continues to hold his hand all along the way. She has established a foundation for the boy, and now, after their immersion into the world of SMA, she has participated in the launch and the professional work of a foundation to help all SMA patients in Hungary.
And what can you do to fight most common genetic cause of infant death? Support a kid like Ábris or your local foundation for SMA research and treatments with money, means of travel, or any of the necessities SMA families have.
Here are our preferred donation channels:
· BJÁbris Foundation – Erste Bank 11600006-00000000-79318624
· SMA Hungary – Erste Bank 11600006-00000000-80062138–site (under construction)