We’re in SMA awareness month
Spinraza
When we got Rexy’s diagnosis there was no hope, no treatment. We were told it was an exciting time for SMA, not much comfort really. We’d googled SMA type 1, we knew the craic. Our awesome team are from the Centre for Life which is a centre for excellence for Muscular Dystrophies (SMA comes under the umbrella of MD but I guess technically speaking it’s a Motor Neurone condition) and they are also a drug trial site. After diagnosis I hit the tinterweb, joined all the Facebook groups and saw all these type 1 children sitting, and pretty healthy all down to a drug that was being trialed called Nusinersen. This was being trialed in NEWCASTLE by our team! But Rex was too old so couldn’t be included. There was a type 2 trial for the drug coming up, I became obsessed with getting Rex sitting by 2years old so he could maybe get on the trial; he never sat, the trial was delayed due to an ethics committee and it never happened in the uk. Rex never got over the 1/2 borderline, due to not sitting unassisted he’s a 1 even though he presents more like a very weak 2 and he never got on the trial. At the end of last summer the drug company Biogen announced an expanded access program for nusinersen for type 1s. Their trial results were so successful the trial was cut short.
The EAP criteria was announced and Rex fit it perfectly. So we were under a site approved by Biogen, with a team that knew the drug and research, and the drug was to be provided for FREE by Biogen, sounds easy eh? Nope! The day the EAP was announced I contacted his team, I wanted his notes checked and I wanted it confirmed he was eligible; they agreed and I spent the next few months basically hounding the hell out of them! Constant emails, phone calls and even when he was in PICU I asked the team every single day. Literally no one at all in the uk was getting on that EAP. Christmas came and the America approved Nusinersen for all types. Cue me stepping up the annoying of his poor team! Its not that they didn’t want him on the drug, they were desperate for him to start the problem was funding for administration. This isn’t a tablet or a medicine this is a lumbar puncture, a lumber puncture on a child that’s been through and seen things a child should never see. This LP would be done whilst doctors held him down, when he doesn’t understand at all. With all he’s been through there was no chance ethically they’d do it; so the other option was a general anaesthetic, huge huge huge risk for an SMAer, huge costs for administration; now to administer it we need an anaesthetist willing to put an SMA child under, their theatre team, a theatre space, an onchologist (most experienced doctor for LP in kids), theatre space, a room for the day, a recovery team, a nurse for the day, an outpatient room for the day, a respiratory physio, a respiratory consultant on standby in case things don’t go to plan, a neuromuscular consultant and physio. Plus add in a play therapist. Shiiit this went from a free drug to incredibly expensive and risky. Did I also mention this is the 3rd most expensive drug to ever be produced, so once approved the NHS will have to take over the drug costs.
Roll in our lovely Dr Chiara 💗 yes Rexy would be getting it at some point but who knows when. Chiara and the team were working incredibly hard trying to convince Newcastle’s health authority to pay for it. She did this whilst in desperation I was harassing the hell out of her. I’m sure she just knows me as ‘fucking woman’ whenever my name pops up in her inbox. Then one Friday night another Newcastle mam posted on fb that their child was getting the drug. We hadn’t heard that Rex would be and I was completely devastated, after lots of tears I email our Chiara who reassures me Rex was most definitely getting it and she’s already had my consent through my constant harassment so she hadn’t rang us. Poor woman was on her mobile to me at like 9pm on a Friday night! God I love her! Rex would get his first injection very early February. He would be one of the very first EAP kiddos in the uk and Newcastle would lead the way by being the first to get all their 1s treatment.
So tomorrow we go for injection number 5! My boy has gone from a floppy rag doll starting with a cycle of being in and out of PICU, weak chest, failing swallow to almost sitting, safe swallow, proper cough to hospital stays with no PICU and actually no symptoms (other than low o2 saturation) when ill. Now my emails to Chiara are photos and videos of things a type 1 SMA child should never achieve.
I try not to post about Spinraza (trade name of nusinersen) as there’s so many families fighting like hell to get on the EAP and more importantly families right on the wrong side of that borderline that cannot access the drug in our country. It seems unfair to post our successes.
Team Rexy 