Spinal Muscular Atrophy is a degenartive disease that affects between 4-10 children in every 100k live births. For those of you unfamiliar with epidemiology, this number might not have a lot of meaning, so suffice to say it is a rare disease, but among the rare diseases, itâs a common one. When it comes down to diseases which only affect one gene, SMA is the most common cause of infant death.Â
I wonât go too deep on how and why it happens, or all the diffferent subtypes of the disease, but what it entails is that for the severe presentation, because the baby is lacking one gene, theyâll gradually lose the strenght in their muscles. By the age of 4, most those children are dead.Â
Itâs not an easy death. The child loses the capacity to breathe and swallow by themselves because of muscle weakness. We provide support as best as we can, but thereâs not a lot we can do about something like that. And though muscle strenght is lost, cognition is unaffected, which means the baby brain is maturing as it would regularly, inside a weakening body.Â
So, itâs horrific. But because itâs a single gene causing the mess, and because science has advanced this far, scientists went âhey what if we could give the kid this gene?âÂ
And thatâs exactly what they did. Enter Novartis, pharma giant. They decided to try it out: put the gene inside an empty virus, give the virus to the kid. Did it work?
to those of you who donât speak medical: yes. yes it did. it worked really well. it worked well to a point where they ran tests with 15 kids and all 15 kids survived without need for respiratory aid, as opposed to the usual 92% death/permanent ventilation rate.Â
âWow, this is good,â said Novartis. âIâm going to put a 2.1 million dollars tag on it.â
âWhat the fuck?â said the parents, who are regular people who do not have 2.1m sitting on their banks.
âWell, you know,â said Novartis. âYou only have to take it once in a lifetime! Seems like a fair price to me. Uh, but also, do bear in mind it only works if you give it to the baby before they turn 2 years old.âÂ
but does it end there? no! although the drug was FDA approved, Novartis needs their prized treatment to get cleared on the rest of the world. people are complaining about the price tag, too. so they have an idea. a brilliant idea!Â
âWeâll get the contacts of the kids who have it around the world,â said Novartis. âAnd then weâll run a lottery! Because we are generous, weâll give away a hundred doses a year for the entire population of planet Earth! Of course, that means your country has to agree my drug is legit.âÂ
âWhat if I donât get picked,â wonder the parents of the children.
âWell, you know. You can always just raise 2.1 million dollars, but remember you have to do it before your kid turns two.â
so now i sit here seething in hatred toward big pharma, watching mothers desperately trying to raise an absurd amount of money which is even more absurd if your coin is weaker than the dollar, saddled with the weight that if they donât do it in time, theyâll have to watch their kids die
and then every once in a while one of them manages to raise the cash, and then theyâll post videos in their social media and i get to watch as the babies gradually regain strenght and starts sitting on their own, then moving their limbs, then standing up by themselves
while the other mothers share increasingly desperate videos of their kids who can no longer sit, and no longer swallow, and no longer breathe, until it all ends with a single text shared through instagram that just says âthank you all, but my child has passed, and weâll give what we managed to raise to the next one.âÂ
meanwhile novartis pats themselves on the back for their generosity of playing roulette with the lives of babies
