In the past few days Slovenes have been activated by a social media campaign, supported by a story from the national broadcaster, to raise about €2 million needed to save a 19-month old boy from Koper, who suffers from a serious genetic disease.
Kris suffers from type 1 spinal muscular atrophy (SMA1), a disease caused by a mutation in the SMN1 gene, responsible for a synthesis of a SMN protein, necessary for survival of motor neurons. If left untreated, the majority SMA1 patients do not reach the age of four, with recurrent respiratory problems being the primary cause of death.
The currently available drugs are Nusinersen, a drug approved in 2016 in the USA and 2017 in Europe, which modifies the alternative splicing of the SMN2 gene and is given directly to the central nervous system and Onasemnogene abeparvovec, a gene therapy drug, which delivers SMN1 transgene into the neurons, solving the problem at its source.
As an intravenous formulation to be administered to SMA1 patients under 24 months of age in a single treatment, Onasemnogene abeparvovec was approved by the USA Food and drug administration (FDA) in March 2019, but is still awaiting its approval from the European and Japanese authorities. The price of Zolgensma, which is a trade name of the drug developed by AveXis, a company acquired by Novartis in 2018, was set at $2.125 million (approximately €1.942 million), which makes Zolgensma the world’s most expensive medication by far.
Since the drug has not yet been approved in Europe, it is also not part of the health insurance system. For European patients, the drug is therefore available in the USA and at their own expense.
Kris is not the first European boy whose treatment with Zolgensma, and therefore chances of survival, depend on a successful crowdfunding campaign. Reports of at least two recent campaigns that took place in Europe can be found online: one took place in Hungary earlier this month and one in Belgium about a month before that. Both campaigns were successful and children are presumably on their way to receiving the needed genetic treatment.
The crowdsourcing campaign for Kris has been led by a small charity called Palčica Pomagalčica. Since the organization is led on a voluntary basis by two fully employed elementary school teachers, who have been more than overwhelmed by the amount of PR they have to process in their free time, it is not yet clear whether enough money has been gathered as of writing this or not.
In case you’d like to donate, you can still do so.
Donations can be made either to the following bank account number:
Or, for those with phone accounts registered in the country, send "KRIS5" (Kris five) SMS to a phone number 1919 and thereby donate 5 euroes to the above address.
