Zsombi is only 10-months old but his life has been a constant fight for survival since he was born. He was recently diagnosed with SMA, a rare genetic disease. The treatment costs HUF 730 million (EUR 2,025,431). The family has already raised 48 million, but now it is a race against time as the treatment must be administered at a very young age.
At 10 months old, Zsombi would be the fourth child to receive the lifesaving treatment. On his webpage, he introduces himself: “I was born on October 22, 2019 with ventricular septal defect (VSD), of which my parents knew when I was in the womb. When I was five months old I had heart surgery, and we thought the battle was won, and we could move on. But it turned out, the real fight had just begun: the diagnosis was SMA.”
The doctors suspected that the little boy had SMA due to his lack of movement. SMA is the abbreviation for spinal muscular atrophy due to a genetic defect in the SMN1 gene. The SMN1 gene encodes SMN, a protein necessary for the survival of motor neurons. Without proper medication, the loss of these neurons leads to the atrophy of limbs, then respiratory problems.
There are two medications for this illness – one of which he’s currently receiving, which is really painful and requires constant meetings with the doctors, physiotherapy, and lots of exercises at home so his muscles can function. The other one is a once-in-a- lifetime treatment, and it would help his muscles function without further intervention. This medication, called ZOLGENSMA, could deposit a new, working copy of the SMN1 gene, so his muscles could function. This is the medication they are currently raising money for. Its price is HUF 730 million, an unaffordable amount of money for most households as it equals the average salary of more than 230 years. However, the family is not giving up and insists on fighting for the future of their child.
Zsombi closes his introduction by saying:
It would be wonderful to be able to know what it’s like to run or ride a bike! Perhaps one day it will happen!”
The family has a Facebook group where they are organizing the collection of bottle caps for the toddler. Also, they have an account people can donate money to and they started a donation program on Facebook, apart from the group for bottle caps, to help Zsombi recover.
Featured photo via Zsombi baby SMA-1 Facebook page