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With advances in cystic fibrosis (CF) care, such as the development of a network of CF hospital centres, improved transplant rates and the approval of new medications, Kalydeco (ivacaftor) and Orkambi (lumacaftor/ivacaftor), people with CF are living longer and more fulfilled lives than 20 years ago. This was the message of this year’s Cystic Fibrosis Ireland (CFI) Conference in Dundalk (6-8 April), which had some 220 people in attendance with a further 1,000 connecting online.
This theme was reflected in the opening speech of Mr Philip Watt, CEO of CFI. He confirmed that because of developments in CF care and services, CFI was now in a position where it could focus more on how best to support people with CF to realise their full potential and lead more independent lives with the support of their partners, families and friends, rather than just focusing on the life-limiting aspects of CF. However, some significant gaps and weaknesses in CF services remain, such as: The promised inpatient unit in Beaumont Hospital, Dublin; post-transplant CF care; and understaffing in some major CF centres.
Prof Gerry McElvaney, Consultant Respiratory Physician at Beaumont Hospital, reinforced this message by outlining just how far CF care had come through the decades. He told conference delegates that CF was first distinguished as its own condition by Dorothy Andersen in 1938. Back then, CF was diagnosed purely based on the pathological symptoms experienced by patients. The nature of the condition that caused these symptoms remained a mystery.
In the 1950s a new means of diagnosis was developed by measuring the concentration of salt content in the sweat of people with CF. Care became more comprehensive and aggressive, tackling all of the complications caused by the illness, including those spanning the entire length of the gastrointestinal tract.
Major CF breakthroughs were made in the 1980s, beginning with the discovery that defects in cellular salt transport are the cause of the physiological symptoms of CF and ending with the discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which causes CF. The treatment of CF, however, remained symptomatic, tackling the downstream consequences of the condition, such as airway infection, rather than its root cause. That was until, in 2012, drug therapies were developed that tackled the underlying basic defect in the CFTR gene.
These drug therapies were able to interact directly with altered CFTR proteins in order to improve their function. The most impressive drug therapy thusfar, ivacaftor brought about rapid and substantial improvements in lung function for those with G551D and other class III mutations. A second formulation, orkambi, which combines ivacaftor with another molecule lumacaftor, provides a therapy for those with two copies of the most common F508del gene alteration.
Prof Gerry McElvaney
Prof McElvaney welcomed the drug pipeline deal that will ensure those patients currently on ivacafter or lumacaftor/ivacaftor will have access to extensions or medications that improve on these two important medications. The phase II clinical trials for combination therapies were particularly promising in this respect.
These include next generation correctors VX-659 and VX-445, which are currently being trialled as part of triple combination therapies. These combinations have the potential to treat patients with minimal function mutations where no protein is produced.
The Cystic Fibrosis Foundation in the United States believes that these triple combinations will allow the number of those benefiting from these drug therapies to increase to over 90 per cent of people with CF. While much remains to be done and there is no glossing over the severity of CF for many, there is still considerable optimism and ambition for people with CF living longer, healthier lives partly as a result of these developments in CF drugs and care.
Dr Annemarie Broderick, Consultant Paediatric Gastroenterologist at Our Lady’s Hospital Crumlin, focused her presentation on gastrointestinal manifestations already associated with CF and on GI issues that are likely to become increasingly important with the rising incidence of diabetes, certain malignancies and other issues associated with longer survival ages.
Minister for Health Simon Harris, in his address to the conference, outlined the very significant impact these developments have had on the lives of people with CF and recognised that this was part of an ongoing journey to improve the lives of people with CF.
He acknowledged there is much more that can and should be done and announced that ‘soft opt-out’ organ donor consent will be introduced with draft legislation to be published next month. He also reaffirmed his commitment to open a new CF unit in Beaumont Hospital.
Simon Harris, Minister for Health
Independent living and CF
CF advocate Mr Rory Tallon presented the results of a new and groundbreaking report produced by CFI on Independent Living and Cystic Fibrosis. The report confirmed major improvements in the quality and length of lives of people with CF over two decades (1998-2017) as a result of improvements to CF care and services. The report also presented a roadmap for switching the focus away from the functional limitations of CF and onto the problems caused by disabling environments, barriers and cultures.
At the core of the report are two surveys undertaken by CFI in 1998 and 2017. Around one-quarter of the adult CF population participated in both surveys. Corroborative data was also drawn from other sources, such as the CF Registry of Ireland. Amongst the key points are:
In 1998 adults with CF were not expected to be in employment, but in 2017 a remarkable 54 per cent were in full- or part-time work.
In 1998, 74 per cent of respondents lived in their parents’ house, but by 2017 this figure has reduced to 43 per cent.
In 1998 only 8 per cent of those surveyed were married, compared with 26 per cent in 2017.
The percentage of those obtaining third-level qualifications increased from 38 per cent in 1998 to 49 per cent in 2017.
The median age of death was only 17 years of age in 1998. By 2015 this had increased to 30 years for the first time.
In 1998 adults with CF were not expected to have children of their own. In 2017 (thanks to better health and the introduction of in vitro fertilisation (IVF)), 26 per cent of the CF population (aged 21 or over) surveyed had children.
While these figures indicate significant success for people with CF over the past 20 years (1998-2017), this is not to downplay the many issues that still stand in the way of adults with CF leading more independent lives. To take just one example, Mr Tim Dineen of the Cork Fertility Centre, in his presentation, described the barriers that face couples affected by CF who wish to start families.
One of the lesser known side effects of CF is infertility. Around 98 per cent of men with CF are infertile because of congenital bilateral absence of the vas deferens (CBAVD). Advances in fertility treatment such as IVF mean that, for the first time, these men can start a family. However, Ireland is one of the few countries in Europe where people with CF do not have access to subsidised or fully supported IVF treatment.
CFI provides limited financial support for families, but cannot meet the full costs of IVF, which can require a number of repeated cycles. Further, Ireland does not provide either subsidised or fully supported pre-implantation genetic diagnosis (PGD). PGD is an adjunct procedure to IVF that allows for the genetic testing of an embryo prior to implantation, which gives people who are the carriers of a genetic disease, such as CF, the chance to become parents without passing on inherited conditions.
Fertility treatment, both with and without PGD, can put a serious financial strain on people with CF and their families seeking to have a child. For example, one cycle of IVF can cost €6,000 and it can cost upwards of €11,650 when combined with PGD.
Self-management and CF care
In addition to leading more independent and fulfilled lives, the conference heard that patients with CF should also be given more control over both their CF care and CF data. Dr Martin Wildman, Consultant in Respiratory Medicine at the Sheffield Adult CF Centre, leads the UK National CF self-management programme, which collects electronic nebuliser data on adherence to nebulised antibiotic and mucolytic therapies. Based on this electronic adherence data, he and his team work in conjunction with behavioural therapists to design interventions to improve adherence to nebulised therapy.
Dr Wildman is interested in reframing the relationship between CF patients and their clinicians by setting patient’s nebulisers to not share their electronic data with clinicians by default. In this way, the CF care team has to earn the trust of the patient and work collaboratively with them in order to get permission to share their data. The fact of nebuliser data being ‘turned on’ would then act as an important metric for clinicians.
This sentiment of returning power to the CF patient and their family was echoed by Dr Des Cox, Consultant in Paediatric Medicine at Our Lady’s Children’s Hospital, Crumlin. With the help of CFI, he is converting the present parents’ handbook and diary into a smartphone app. This app will allow parents to readily post questions to and receive responses directly from their child’s CF care team. The app will support new approaches to treatment adherence and self-management.
Prof John Moore and Prof Cheri Millar of Belfast City Hospital described their ongoing project, which aims to make the science of CF accessible to patients.
Finally, Ms Tamara Vagg, a multidisciplinary Post-Doctoral Researcher with the CF adult day unit in Cork University Hospital (CUH) and University College Cork (UCC), presented on her work, which investigates how medical media can be used to get CF patients to develop a better understanding of their condition.
‘I may have CF, but it does not have me’
Sustained investment in better CF services and medications can have a very significant impact on the lives of people with CF. New CF drugs and better services have put many people with CF in the position where they can put the following defiant declaration on their online profiles: “I may have CF, but it does not have me.”
While the fight will continue until every person affected with CF has a drug therapy or treatment, people with CF can now begin to look at shifting the focus away from the life-limiting aspects of CF and onto the heights which people with CF, like Mr Nick Talbot, can reach with the right support.
Nick Talbot atop Mt Everest
Despite being told as a teenager that he had just five years to live, Nick went on to become the CEO of a small international organisation, survive two of the worst natural disasters on Everest on his way to the top and is now part of the way through attempting to scale the highest mountain on each of the seven continents.