It’s true what they say, time really does fly! It’s amazing that it’s already been 6 months since we were fortunate enough to get our hands on Chester’s first prescription of Kaftrio and what an incredible 6 months it has been!
To help you understand just how revolutionary Kaftrio is…..it is definitely worth me explaining (or at the very least trying to explain – bearing in mind I am not a scientist or a doctor) the science behind it…here goes….Cystic Fibrosis is caused by a mutation of the cystic fibrosis transmembrane conductance regulator gene (CFTR), which regulates salt and water transport in the body (measured as sweat chloride). The CFTR mutation allows too much salt and water into cells and results in a build-up of thick, sticky mucus in the body’s tubes and passageways.
There are lots of different mutations in the CFTR gene and each person with CF will have inherited two faulty genes, one from each parent, these aren’t always the same copies. In Chester’s case he has one “Common” mutation and one that is more rare (DF508/F507Del). Anyway I digress, in the past CF treatments have been mainly preventative, such as chest physio to prevent the build-up of mucus and the use of prophylactic antibiotics to prevent chance of infection, the ultimate aim to prevent irreparable lung damage.
Kaftrio is a triple combination of drugs that effectively fixes the faulty genes that cause CF, allowing the salt/water to move between cells as they should.
The anticipation of starting this new drug left us feeling overwhelmed, there were so many hopes being pinned on Kaftrio. Chester didn’t qualify for the Orkambi and Symkevi rollouts and having suffered a significant decline in health post exacerbation in December 21, which hospitalised him and left him in quite a fragile state, it really was hard not to get over excited and we had to remain grounded.
On Mon 28 Feb 22, having had his height, weight and lung function recorded, our day finally arrived and Chester took his first dose of Kaftrio! I was excited and nervous, this was what we had been holding out for, it was a huge deal, that said the worries that it wouldn’t make any significant difference were real!
His starting numbers were poor, lung function was sitting around 74% and his weight at 20.8kg was well below where we needed it, placing him on the lowest end of the percentile scale with a BMI of 13. We had reached a point where we were actively discussing interventions including surgical options with his team if there were no significant improvements on his weight.
We watched him like a hawk for any signs of side effects, trying to remain positive that he wouldn’t suffer any of the severe side effects that had been reported and that would result in us having to stop the Kaftrio. We were lucky, he remained tolerant which was the first big hurdle.
The first noticeable change was well within 48 hours after he started, his skin was noticeably smooth and not clammy like normal and he was not as sweaty, but by far the most incredible change was that he didn’t taste particularly salty.
For those that have read my previous blogs, you’ll know that as a CF Mum, I have been known to lick Chester’s arms and face to see if he is in need of any salt supplements and indeed in the very early days when we were waiting for the genetic testing to come back to confirm the CF diagnosis.
As the days passed by Chester became increasingly energetic, bounding around and full of beans, actively wanting to get involved in physical activity, a real change from the little boy who had previously struggled to walk 10 metres without needing to sit down and get his breath back. There was a significant change in his confidence and it was amazing, watching him take deep breaths filling his little lungs with oxygen was simply incredible. Chester would often say he felt weird, like his chest was empty, unable to fully understand the significance of what it meant.
We were relatively lucky as far as side effects went, there were a few minor setbacks, he became very moody and did suffer with insomnia for a short period of time which left us all sleep deprived, but that came and went and were soon back on track.
Chester’s most recent weight was 23.8kg, whilst not a huge gain, it is a whopping increase for him, he is now out of age 6 clothes and is rapidly outgrowing his age 7 ones, his BMI is up and he’s filling out.
His lung function test has hit late the 90s and he even managed to blow 110% on one test, although not sure how much of that might have been a fluke! His numbers are all headed in the right direction which is the best news.
We recently asked our team to re-run Chester’s sweat chloride test which they a week ago, this was the test that the hospital used to assist in the diagnosis of CF when Chester was smaller. His original reading was 115 mmol/L which fell into the category well above 60mmol/L indicating CF.
Chester’s most recent result post Kaftrio was significantly lower at 43 mmol/L, which is literally just over the “CF is unlikely category”. I have to admit I was initially a little disappointed with the result, especially knowing others have had their salt levels come back as low as 7 – 10mmol/L, but having taken time to reflect, I have to say that it really is still an amazing result.
The results to date have all been extremely positive, it is imperative though to understand that Kaftrio is not a cure but for now it’s the closest thing we have and the work to keep Chester well continues. Chester’s treatments currently remain the same, with a routine that includes chest physiotherapy twice daily, nebulised medications to continue to thin the mucus, pancreatic enzymes to continue in assisting fat absorption but what is important is that his quality of life is massively improved, physically he looks better and more importantly for a boy of his age, he can keep up with his friends when playing and running around. He recently ran the “Race for life” at school, managing to keep up and even overtake some of his class mates and has now signed up to the local Rugby Club where he has started training.
The next big test is to see how he fairs in the winter months, with the normal bugs and infections doing the rounds, but we remain hopeful and will continue to keep everything crossed for a winter with no exacerbation and no admissions.
I remain forever grateful to the CF community who we consider family, who tirelessly campaigned to make this drug available for our children.
Kaftrio has given Chester a new lease of life, a new found confidence and the chance at a future unlimited by CF.
Embrace the suck 