BJAbris - Fight for Life
Ábris was born on July 31, 2016 at 39 weeks with a 9/10 Apgar score. He is a very cheerful and smiley baby. On March 31, 2017 he was diagnosed with SMA Type 1, which is a type of spinal muscular atrophy. Currently he is well both physically and mentally, and this is not going to change in the future, because the disease does not affect his mental development. He is currently living a normal and happy life, and luckily, the occurrence of the severe symptoms of the disease have not been present so far due to his strong immune system. At 5 months, I recognized he did not move as much as he had in the past. As a result I started taking him to baby swimming and baby massages. These programs brought significant results and fortunately he is still improving. Later on, I took him to a private medical center for an orthopedic examination as well as the Dévény Anna Foundation for a consultation and health check. Neither of them determined anything serious nor recognized the signs and symptoms in relation to such a serious disease.
Finally, on March 24th we went to a developmental neurologic examination where they identified signs referring to the disease at first sight. As a result they sent a blood sample for genetic testing. On March 27th, days later, Ábris was hospitalized in the department of developmental neurology of Szent Margit Hospital with the aim of thorough examination. By the end of the weekend, the result of the expected blood test had arrived which substantiated the diagnosis.
Since then, he has been at home again in his own atmosphere, where he lives his usual days.
Our Story
Unfortunately, the worst case scenario happened to us. The result of the genetic test was received on March 31, 2017 in which the doctors diagnosed SMA type 1 disease. SMA stands for spinal muscular atrophy, in other words, spinal chord malnutrition which cannot support life. In 80% of cases, children diagnosed with SMA 1 do not live to the age of one. Luckily, Ábris’s immune system is extremely strong and so far, none of the symptoms have occured. Doctors indicate he has approximately one year to live.
Our one last hope is a medicine called Spinraza, which was authorized in the US last year. Spinraza has been tested on patients in several clinical experiments, and it seems capable of keeping the child alive as well as improving their quality of life as well. Negotiations are currently being held in Europe on the authorization of this medicine. It has been tested in Germany, but Spinraza has sadly not yet reached Hungary. It would be amazing if we had this medicine here, but for now the US is the only sure place with access to it.
The price for the first year of treatment is $750,000. It is impossible to pull the money for it out of nowhere.
The establishment of a foundation for Abris is pending. It is a time-consuming procedure and in the best case scenario, it can operate legally within a few months.
Until then, we have opened a bank account to which we are saving all the money we can in these pressing times.
Thank you for listening to our story. Donations of any amount will mean the world to our family, and most importantly Abris.
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