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Living Medical History

Picture show a selection of different medications in pill form.

I began writing this blog post in a year sure to go down in human history. 2020 saw the limits of humanity tested, along with the expectation of what medical science and its interventions is able to address.

Having grown up with a medical condition, and therefore knowing many people with different medical problems, I have always pricked up my ears when it comes to news of developments in medical treatment that would have helped the people I grew up with live longer and fuller lives. This was the case when I began hearing reports of a new drug that was showing promising results at trial for the treatment of Cystic Fibrosis (CF), it was often referred to as ‘The Vertex triple combo’ or just ‘Vertex’.

A Product of the Times

Having a disability, and spending the greater part of my childhood at a school for children with a wide variety of health conditions, has influenced many areas of my life including my academic interest and career thereafter. There was a varied medical population at school, anything from those with cerebral palsy (CP) like myself to those with spina bifida or muscular dystrophy/atrophy. There were also children with heart conditions and several with the genetic condition CF, which affects the lungs and digestive system. It was first described in 1938, but has even been referenced in centuries old folk tales and is regarded as the most common cause of serious illness in children.

There were three individuals with CF in my class when I started school, and others in different parts of the school. There were cousins, brothers and sisters. I have to say that when I was young I was unaware of the seriousness of the condition, I even considered the kids to be lucky in that they only had to lie on a bed to do treatment, while I had to do painful stretching and other exercises to work on posture. To my five year old eyes getting to escape class and lie down for 30 minutes, twice a day, seemed like a good deal. Only as I grew older did it dawn on me just what those kids were dealing with. I saw individuals getting sicker and passing away; most of the children with CF from my school days passed away before the end of high school. There were of course children who passed away with other conditions as well, though the deaths of those with CF always seemed to feel different and be treated differently. I wonder in retrospect if this is due to the fact that many symptoms of CF are not outwardly visible and staff could more readily connect with them because of this? For all of us, death was never far away, a spectre we integrated into our lives and something we strangely grew to accept, even with the sadness it brought.

On the edge of change!

When I entered school the life expectancy of an individual with CF was around seven to ten years. The increase in these years was largely down to the introduction of enzyme replacement therapy that allowed for better treatment of pancreatic insufficiency. It was now possible for individuals to achieve a better overall nutritional status. Cystic Fibrosis creates an increased caloric demand by way of both the demands of the disease process itself and because it is more difficult to absorb all the nutrients from food ingested. Historically children with CF were restricted to a high protein but low fat diet. With the coming of more effective enzyme replacements, it was then possible to eat a diet with an increased fat content, thus helping meet the higher calorie demand. In the years since, it has been shown that nutritional status has a significant predictor of health status and life expectancy in the CF population, along with improvements in nebulised therapy and the use of courses of intravenous antibiotic treatment to fight long colonisation with various bacteria.

The first successful lung transplant was performed in 1986. In the years since, though far from a cure, it has proven to be a good treatment choice for those whose options are limited and have reached the end stage of their disease. There were massive steps forward in 1989 when mutations in the Cystic Fibrosis Transmembrane regulator (CFTR) were beginning to be identified and there have been thousands of mutations in the gene associated since that time, with this has come a greater understanding of the underlying cause of the disease itself. This knowledge opened the door to new treatment modalities. There were hopes of gene therapy whereby the defective gene could be rendered inactive, though this has yet to be achieved.

Statistics from National Jewish Hospital, Colorado, USA

New Start and Old Memories

I was able to leave special school in my mid-teens to enter mainstream education where I began to focus on science subjects. I particularly like human biology. My new surroundings were a stark contrast to what I was used to and brought home to me what it meant to be healthy. The first three years of my mainstream education I remember occasionally being struck that no one in my classes had died. The names of diseases and their treatments I had been so used to hearing faded from my daily vocabulary, although my childhood knowledge did come in useful in some of my science lessons that covered human health and disease. I also had some rather deep and at times emotional conversations after lessons ended as special school, which I did not have in mainstream.

At heart I would have liked to work in CF related research, it was always an interesting chemical puzzle I wanted to work to solve. I had seen it cause so much suffering and grief that I wanted to help end. However, given my increasing physical limitations along with other factors a career in this type of research was not going to prove possible for me and in the end I gave up on it as part of my future. I began to write about the social aspects of living with disability and chronic illness, as well as discussing treatment and technical innovations related to the condition I have.

I stayed on a few of the mailing lists related to CF, but nothing much came to my attention until 2003 when research provided an increased understanding of the structure of the CFTR protein. This in turn created more opportunities for more targeted treatments , something that was little more than a dream for those working in the CF world only a few years before. The following years saw the first of a new type of medication that worked on the root cause of the disease in those individuals with specific CF mutations. The first of these drugs known as CFTR modulators was ‘Ivacaftor’, it is branded ‘Kalydeco’. However, as each differing mutation results in a slightly different problem within the protein, although the resulting disease is the same in a broad sense, it can sometimes result in a milder disease.

In 2015 this was followed by the first combination CFTR modulator drug ‘Ivakafta’ and ‘Lumakafta’ that is sold under the brand name ‘Orkambi’ in the USA. These drugs worked on different parts of the problem and were combined so that an increased number of people with different CF mutations could benefit from the therapy. Then in 2019 I began to read about a new breakthrough drug that had the potential to help the largest number of CF patients to date; ‘Trikafta’ as it is branded in the USA is also often discussed as ‘Vertex’, the name of the pharmaceutical company that developed it. Also, the ‘Triple Combo’ is a combination of three different drugs ‘Exakafta’,’Iivacafta’ and ‘Tezacaftor’. This medication has the potential to offer hope to 90% of those with CF providing they have F508 among the two mutations they carry, by far the most common presenting mutation in the CF population. There had been significant improvements in lung function reported in trial phases with this treatment. When the drug was approved for use in the USA there were more and more positive reports emerging from beyond the consulting room, with some patients choosing to document their journey on social media, sharing it publicly to raise awareness around their disease. Many taking it have reported not only increased lung function but have said that they now find it much easier to maintain a healthy body weight. The new drug has heralded at least some level of stability in the face of inevitable decline.

Perceptions Are Changing

Whilst ‘Trikafta’ / ‘Kaftrio’ does not represent a cure for CF, it is to date the biggest step forward I have lived to see. When it became approved in the UK in 2020 my joy was tinged with sadness for the young people that didn’t live to see this breakthrough. Sometimes the ghosts of my past weigh heavily on my mind, those individuals that did not get to live a long life, yet have had such a profound influence on my own that is beyond measure.