CF Expectations

What are we currently doing?

Jen Balfe, PhD candidate, supported by CFI, RSCI and the Irish Research Council, is conducting interviews with women with CF and the healthcare professionals involved in their care as they access fertility and maternity services in Ireland. The interviews take place online and help to inform our knowledge and understanding of the experience of fertility and pregnancy in Ireland.

What do we want to learn?

We want to learn from the voices of experience about how people with CF and their healthcare teams navigate fertility and pregnancy journeys. Women with CF who have been pregnant or have accessed fertility services in Ireland are the people with the lived experience who can help us learn about what being pregnant and becoming parents with CF in Ireland is like.

We also hope to learn from the many different healthcare teams/professionals involved in the care of women with CF during this important stage of their life about how they support women with CF and their families through fertility and pregnancy journeys. This is the first study of its kind in Ireland. Given the growing number of women with CF becoming pregnant in Ireland and internationally it is a timely study which will hopefully shed light on the enablers and barriers to care. Interviewing and listening to people who have first-hand knowledge and experience will hopefully lead to better future knowledge, awareness and supports for women with CF, their families and their healthcare teams.

What do we hope to achieve?

We hope that the findings of the study will help to inform a resource booklet/companion guide for women with CF, their families and their teams. We want to produce something tangible that women can hold in their hand to help support them while they access fertility and maternity services. We will also use the findings from the study to make recommendations for the future care and service provision for women with CF in Ireland who may become pregnant in the future.

Why is it important to take part?

Your voice is important and can make a difference for how women with CF and their healthcare teams experience accessing and providing fertility and maternity services in the future.

How can you get involved?

If you are a woman with CF in Ireland who has accessed fertility/maternity care or a healthcare professional who has cared for women with CF during this period you can find out more about the study or register your interest by contacting jenbalfe21@rcsi.ie or on twitter @CFExpectations.

Julie Bernard: Parent of child with CF

After a rollercoaster year with the Kaftrio 35 campaign I was very grateful for the opportunity to attend the ECFS Conference. The conference was excellent, with a really well-designed programme and sessions and the culture is one of openness and accessibility. Based on the sessions I attended and poster presentations, ten recurring themes emerged:

1. Diversity of patient groups with CF and people impacted by CF screening and genetic issues

At the opening plenary, it is noted that there are now four different groups of people with CF: those who started new CF drugs later in life; those who started modulators at an early age; those who are eligible but can’t tolerate modulators and those who are not eligible for existing modulators. During sessions about CF screening and genetics, it is clear there are other groups of people who are also impacted by some aspect of CF screening and genetic issues including CFSPID/CRMS (CF Screen Positive, inconclusive diagnosis; CFrelated metabolic syndrome) and CFTR-related disorders; those who receive a false positive test; those who are carriers or potential carriers of CF variants. I find myself wondering who is the CF-community? How are so many diverse groups supported?

2. How best to support the changing needs of diverse groups of people with CF?

There were discussions about how diversity was always a feature of CF but that the diversity of impact and need is now wider. So much is improving for many on modulators, but there are also new issues emerging, ongoing learning about CF genetics, so much is still unknown about the impacts of modulators and living longer with CF, ongoing research is required to enable all people with CF to avail of new and better treatments and for some of the patient groups, traditional CF impacts and care apply. Thus, it is often a case of additional needs.

3. Mental health impacts of CF

There was a clear recognition of the need for better psychological supports for both people with CF and parents and family members of children with CF, with presentations on the value of and approach to psychological screening of pwCF and parents/guardians as a standardised part of care.

4. Understanding of transitions and identity change

The case was made for a stronger recognition and understanding of the nature of the transitions and identity changes that are emerging for people with CF and parents of children with CF arising from the use of modulators. In additional to psychological support, there was a need for specialised career and education supports, including access to lifelong learning for changing life circumstances, an ongoing need for financial supports and a requirement for flexible work models.

5. Living with CF and life stages

Research was presented on key life stages and CF including: the importance of early and dedicated support for discussions about issues of sexual health; the menstrual cycle and CF; reproductive options; pregnancy and modulators; aging and CF and the need for further research about menopause and CF.

6. Adherence

Many papers addressed the issue of adherence but often focussed either on only one aspect of treatment adherence, which does not capture the reality of treatment adherence with CF, or when various aspects of CF treatment adherence were addressed in research studies, the focus was more on the barriers to adherence with less attention paid to the bridges to adherence and the success factors.

7. What model of CF care and additional professionals would assist with this diversity and changing nature of CF care?

My own conclusion from 10+ years of dealing with CF treatment adherence as a parent was that the critical factors are full emotional - not just rational - acceptance of the diagnosis together with family-specific systems and schedules and hence that all CF teams would benefit from the addition of an OT who could visit the family home and assist with diagnosis acceptance and the development of bespoke systems and schedules. It was particularly interesting then to hear a presentation from the first OT in a CF MDT in the UK. She spoke about the benefits of different models of care and the value of moving from MDTs to Interdisciplinary teams and Transdisciplinary teams. There were other examples of additional professionals joining CF teams including a youth worker and a mental health navigator.

8. CF variants and ethnicity

There were recurring references to the issue of CF variant panels used for screening, ethnic diversity and the risk of missed diagnosis. With Ireland’s changing population, I wondered if this issue was under ongoing review in Ireland?

9. CF and health inequalities

A number of presentations drew attention to health inequalities including global inequalities regarding access to modulators and other CF treatments. Data from CF Registries showed very positive developments regarding survival rates and other outcomes but there were stark differences between high/middle/low-income countries. A presentation on access to CF care in South Africa also showed inequalities within a country. The nature of CF care and treatment adherence requires resources and access to resources varies: do we have data and have we assessed outcomes and quality of life for people with CF in Ireland based on socio-economic group/social class and by ethnicity?

10. Caregiving, language and co-creation of knowledge ‘Caregivers’ at the conference often seemed to refer to the MDTs providing care to people with CF. But people with CF are also key providers of care to themselves, as are family and friends for children with CF and likely for some adults with CF. Other professionals and patient support groups also provide care. Adopting this wider definition of care, caregiving and caregivers would provide a stronger, more inclusive basis for engaged research and co-creating the types of knowledge that are required for physical and mental health, effective care and treatment adherence and the transitions, identity changes and quality of life issues over the life course that are now part of the diversity of experiences with cystic fibrosis.

It was an incredibly positive experience to attend such an excellent conference of 2000+ people who are all committed to improving the knowledge and care for people with CF. Thanks to CFI for this opportunity and support.

Carolyn Thornton, parent of a person with CF, shares an update on Phage therapies

Due to the emergence of multi drug resistance bacteria worldwide, there has been a lot of research into the use of phage in the treatment of infection. Phage are a group of viruses that specifically target bacteria as hosts for their replication process. The end result is lysis (bursting) of the cell. This phenomena was first investigated by the Soviet Union as a method for treatment of bacterial diseases such as dysentery and gangrene in soldiers during WW2. Phage will bind to a bacterial cell but not to a human cell which makes them a useful tool. Further refinement and research has continued and phage treatment to this day is used in Russia, Georgia and Poland.

The Western World did not embrace this treatment at the time and abandoned phage therapy due to difficulties with strain specificity and purification. This was also the era when antibiotic treatment had begun to be used effectively, and multi drug resistance was not an issue.

Now the medical and scientific communities are back looking at phage with a lot of exciting research and development. At the ECFS Vienna 23, there was a Symposium devoted to the topic; the main areas being researched are how to match a phage to the bacterial host as specificity is a fundamental aspect, bacterial resistance to phage and effectiveness of phage alongside antibiotic treatment. Research is taking place in Valencia, Copenhagen, Pittsburgh, Massachusetts, Iowa & Israel.

In particular Dr.Benjamin Chan, Yale University, New Haven, USA delivered a fascinating lecture on the practicalities of phage use in Clinical practice. They have treated approximately 32 patients who have been referred to them for compassionate use of phage.

The first step is to identify the exact strain of infectious pathogen, which was a strain of pseudomonas aeruginosa (PA) in the patient case he spoke about (although they also have used phage treatment to treat MRSA, and NTM in another centre) The next step is to find a phage that matches the binding receptors on that particular bacterial strain from a library. This is called characterisation and production is then optimised. Invitro then testing occurs for sensitivity and finally there is a treatment plan. Phage treatment can be effectively deployed by nebulisation.

In the case study referred to, a female living with CF, pan resistant PA with a FEV% decline from 90-30, had resistant strains and a high bacterial load. A course of phage was administered, and post therapy her FEV increased to 90%. Most importantly there are no evident side effects from phage and the female has been stable for 3 years.

Although Phage therapy is now considered to be another tool, there is still a lot of work to be completed in terms of susceptibility, bacterial resistance, and how this treatment works alongside antibiotics, along with a concern that neutralising antibodies may eliminate the effectiveness of phage. Nonetheless it gives a glimmer of hope to those pwCF with chronic infections.

Rory Tallon, CF Advocate CFI

It was an honour to attend the 2023 46th European CF Society Conference in the Austria Centre Bruno-KreiskyPlatz in Vienna as part of the CFI delegation. How amazing to be sitting among the leading experts listening to medical updates on the impacts of CFTR modulator therapies in CF. As I listened in, fully appreciating my 2 years of Kaftro treatment, my mind drifted back to Vienna in 2001 at the 24th ECFS where I first heard of the preclinical trial results of the Vertex VX compounds and the huge promise of these compounds on the horizon.

The optimism was palpable in the lecture halls then. So here now in June 2023 – 22 years later at the same conference again, learning of the lasting impacts of triple therapy, learning of new and possibly more effective Vertex modulator compounds in preclinical trials currently and of genetic therapies- mRNA therapies that can be delivered through a renewed focus on lipid delivery via highly developed and extremely specialised lipid nanoparticle delivery systems. These new mRNA therapies have the potential to treat everyone with CF- they are not mutation specific (mutation agnostic) The last 10% of people with CF who are ineligible for existing CFTR modulators may just have reason to hope and believe that maybe in 20 years’ time they too could be attending ECFS listening to real world experience - beyond clinical trials- of the impacts of corrective mRNA treatments.

Science and medical progress aside, it was most rewarding to meet some of the dedicated researchers CFI have funded – who were in attendance to learn and to share their research. We met Dr. Niamh Coffey from UCC Dental school investigating oral health in CF, Cian Greaney from UL researching diet quality in CF, Rini Bhatnagar from UCD studying outcome experiences of CF genetic diagnosis and Jen Balfe from RCSI researching pregnancy experience in CF.

It was wonderful to chat to them, some briefly and some over a meal out and to feel their passion for their research. It was equally rewarding to meet and get to know the parents of PWCF, Julie and Carolyn, who were also part of our CFI delegations with Philip Watt and myself.

Fascinating also to chat to the folks from CF Registry of Ireland and David from UK CF Trust. You learn so much from these conversations that you don’t always get from direct lectures. The ECFS is extremely technical, scientific and medical, it is not for a lay audience. It is where the experts meet, share and learn with our Irish CF specialists clearly right up there with the best of them.

Cian Greaney, PhD candidate, University of Limerick

The dynamic evolution of CF clinical practice and new therapies within recent years has undeniably led to remarkable advancements in health outcomes for a significant segment of individuals affected by CF. Nonetheless, alongside these commendable achievements, novel challenges have surfaced for both people with CF and the multidisciplinary teams entrusted with their care.

Given this transformative landscape, I see there being a paradigm shift in CF research, gravitating towards the exploration of preventative approaches in CF management, aiming to mitigate the onset of overweight and obesity while addressing the psychological impact and body image concerns stemming from the complex interplay of mental and physical tribulations present in the CF experience.