Lung function is miserably down. Cough is persistent and sometimes, pretty explosive.
We kicked off IV antibiotics again yesterday. But further to this, he's also lost 9k in a very short amount of time. The reasons for this could be the constant cycle of infection (feels unlikely, as he doesn’t usually lose this much, this quickly), something more sinister (he will have a full chest and abdomen CT with contrast next week to assess; the gift of CF increases odds for certain cancers too), or, most likely, Cystic Fibrosis Diabetes.
CFD (previously referred to as CFRD, the R being ‘related’ but now renamed to stress the direct specificity of this disease) shares some similarities with both type 1 and type 2 diabetes but is unique and only affects those with CF. It is manageable, but insulin dependent, and associated with worsening lung disease.
CFD explained on the Trust website: Cystic fibrosis diabetes (CFD) is a common complication of cystic fibrosis (CF). CFD is a condition linked to a small organ called the pancreas. Most people with CF are pancreatic insufficient, which means the pancreas doesn’t work properly. The pancreas is an organ which has two important functions: making enzymes to help digest your food and making a hormone called insulin, which is important for keeping your blood glucose levels under control. Your body converts the food you eat into energy. You need this energy for exercise, everyday activities, and thinking. Most of this energy comes from carbohydrates, which are broken down into glucose. Insulin has the job of moving this glucose from your blood stream into your cells where it can be used for energy. In CFD, the pancreas makes some insulin, but not enough. This can lead to high blood glucose levels.
He is now sensor-ed up for continuous glucose monitoring to assess what’s going on; it would certainly explain his weight loss and lethargy. He is also having more thorough blood analysis to try and understand some unusual high fever, achy episodes that he keeps having, which are more likely indicative of infection. The unknowns are always what worries me the most. Isaac? He just takes it in his stride. His growing fortitude, stoicism, understanding and knowledge astounds me at times.
As you may have gathered from previous posts, he was involved in a clinical trial earlier this year. This has now ended, after six months of follow up. For us, this was the very first opportunity to trial something that targets the underlying cause of his disease, and not just his symptoms.
CF is rare, and the 10% of that population for whom current CFTR modulator treatment will not work, are rarer still.
Nothing takes away my eternal happiness, relief and joy for those who are able to benefit from (and can access) modulators, which have significantly changed the outlook for the majority of sufferers (maddeningly, they are still not available globally, as they surely should be).
The majority of people that make up that 10% still waiting, like Isaac, have stop/nonsense mutations of the gene, which means his DNA tells him not to produce the CTFR protein at all, so require a different kind of fix. Others in the group may have rarer mutations still, and those that cannot tolerate the drugs side effects, which are plentiful.
This group, the last 10%, represents just 5,000 people globally. Trials are often based in the more affluent, scientifically advanced global locations, cutting the available population who could be involved in trials further still. Then you cut out children (too young to test such new drugs on), the very sick (unable to tolerate or benefit from the drug), women of child bearing age (unknown risks to mother and child), and those who simply cannot or do not want to risk being a participant in trials, or endure the process - what you are left with is a very small eligible group. All the while, the trials need numbers to prove efficacy and safety. Whereas a few years ago, trials seemed in the distant future, now we face the very real possibility that some may be planned, but not able to go ahead due to lack of patients.
I can’t say the decision to join trials was easy for Isaac, but it certainly wasn’t hard given the impact of his declining health on his quality of life. The treatment phase, although incredibly intensive, was only a month. He was paid for his time, I was there with him throughout to support, and the research team we worked with were fantastic (I wish I could tell you more about this team!). Most of all, it was a chance to try a treatment that could, potentially, make a huge difference, taking him off this seemingly endless loop of infection, inflammation, worsening symptoms, IV’s (and repeat). Our team also talked endlessly about our contribution to science and the CF community, fuzzy warm feelings not unfelt.
I can say nothing of the specifics. This science is shiny brand new, Isaac was a very significant patient within the trials, and the pharma wants to keep information close until they can publish results. We don't even have access to his data ourselves, but have our own opinions on efficacy. This week we found out that the next phases of the trial are currently on hold, and our hope that we could very soon resume treatment by joining the next phases of the trial, currently not an option.
This frustratingly leaves us in a similar place to where we were last year. We can either pursue other gene editing trials, or gene replacement. To say that these decisions are huge to us is an understatement. We are yet to gain confirmation on one critical question;
How long before being on one gene therapy trial, could he join another?
The closest we have come to an answer on this, as the science is so new, and the protocols still being written, is that it may be one year between gene editing trials (there are more in the pipeline, and we could feasibly, join one each year if we were able and needed to). However, gene replacement could be up to 15 years.
Sorry if this seems purposely vague, I cannot divulge details, and can only tell you what I understand, but the gist is…. this is a #majorheadfuck. I sometimes feel like I can't stop anything, if I do, I'll not be able to get back up.
Love, love, love x (I have posted gene therapy FAQ’s at the beginning of the year, look back if you have any questions, or do get in touch) x
Doodles from my trials notebook (#visual based learner)
