CFTR Modulator Therapy

According to the 2022 US. Cystic Fibrosis Foundation Patient Registry data, the number of people with CF (PwCF)  using CFTR modulator therapies reached more than 24,000 by the end of 2022.[1] With that increase, pregnancies have doubled, from 310 in 2019 to more than 600 yearly from 2020 through 2022 (see Pregnancy chapter).[2] As the treatment burden for many people with CF taking CFTR Modulator Therapy (CFTR Modulator Therapy) is decreasing, many parents with CF are shifting their concerns (Stransky OM et al., 2023).[2]

Researchers still need to conduct sizeable multi-center studies describing the impact of parenthood on health outcomes; such data is unavailable because the CFF Patient Registry needs to include questions about parenthood and reproductive health. Kazmerski et al. l used the 2016 UK CF patient registry data on pregnancy among females with CF who became pregnant and males with CF whose non-CF partners became pregnant.[3] Although elexacaftor/tezacaftor/ivacaftor (ETI) was not approved in the UK during that period, 14% of the individuals in that study were treated with CFTR modulators.  

Using the UK data, Kazmerski and the team found that in the year after parenthood, PwCF experienced significantly decreased lung function and body mass index, and parents experienced increased use of annual days on IV antibiotics. They also experienced increased pulmonary exacerbations. For those in the study on CFTR Modulator Therapy (n=43), the negative health impacts of parenthood on FEV₁ were lessened, specifically among people with CF with mild to moderate disease; the trajectory of BMI reduction and the number of pulmonary exacerbation treatment days were not affected (Kazmerski et al., 2022; Taylor-Cousar et al., 2023).[3,5] One of the limitations of this study is that the analysis of the impacts of parenthood only included the first year of parenthood. Another limitation regarding the impact of CFTR Modulator Therapy on parenthood was that only 14% of those in the study were on CFTR Modulator Therapy.

In a 2022 Photovoice study exploring parenthood experiences and needs (n=37 PwCF) conducted by Stransky and her team, many participants noted the positive impact of CFTR Modulator Therapy on decreasing their daily treatment routines. One father compared parenthood pre- and post-CFTR Modulator Therapy. He said that before Trikafta, he was doing treatments three times a day, which he claimed negatively impacted his kids and schedule. Post-CFTR Modulator Therapy, he only had to take oral medication. Further, one mother said, “If I did have to do twice-a-day treatments right now, I have no idea how I could do that and still take care of my son.”[2]

Researchers are conducting longer-term, prospective parenthood studies to better understand the impact of the widespread use of CFTR Modulator Therapy for parents with CF. The Health Outcomes of Parents with CF (HOPE CF Trial # NCT 05829694) study will determine the health impacts of parenthood on PwCF in the United States in the era of CF modulators.[2] The study will prospectively observe parents with CF who are both on and off CFTR Modulator Therapy. Data from this study will help inform whether ETI completely mitigates the pulmonary and BMI impact of parenthood observed in the UK study while identifying intervention opportunities to support PwCF in their parenthood decisions (Taylor-Cousar et al., 2023).[8] Additionally, Taylor-Cousar and Jain are conducting the MAYFLOWERS study (Maternal and Fetal Outcomes in the Era of Modulators), which is a prospective observational study of pregnant females with CF (FwCF) and their babies in the US This study evaluates maternal health outcomes pregnancy and post-pregnancy, and infant outcomes up to two years after delivery.[4]

Becoming a New Parent 

Any new parent experiences a learning curve regarding time management, taking care of oneself and the baby, and simply learning how to attend to the needs of a child. Newborn schedules are demanding and disruptive to most parent schedules because the infant’s needs almost always take priority. Parents face sleep deprivation and numerous other life adjustments. 

Adding to this mix, mothers with CF must be able to maintain their health while attending to the newborn’s health needs. If the woman decides to breastfeed, there is an increased caloric demand on her body, as well as exhaustion from being the sole or primary parent responsible for feeding the newborn.

Discussing CF with Children

Positive Aspects of CF Motherhood

Mothers with CF certainly experience the positive aspects of parenthood. Compared to other chronically ill parents, mothers with CF do not report feelings of insecurity about failing to live to idealized expectations of “healthy” mothers; they do not generally feel the need to achieve that ideal. They also feel that having children motivates them to better adhere to their treatment regimens in order to prolong their lives [14,15]. 

Ullrich et al., conducted a mixed methods study (collecting both quantitative and qualitative data) of mothers with CF (n=31), ages 21-45 years, finding they are, in fact, remarkably resilient. CF moms cope well with parental stress, even in the face of having a progressive, chronic disease [15]. The researchers suggest that mothers with CF do not show a higher level of stress because of a general need by people with CF to feel “normal” and because of “response shift effects.” Response shift is defined as a change in a person’s perception or beliefs, such as how that person perceives their quality of life, that reflects changes that person experiences with their health status. Essentially, this means that because women with CF typically experience many serious health stressors, they experience parenting stressors on a different scale than mothers who are not dealing with a chronic illness. Ullrich suggests that a response shift effect also occurs because many women with CF grew up thinking it impossible to become a parent. They also experience less stress because they are raising “healthy” children [15]. More studies on parenthood and CF are needed to confirm these observations.

Personal Stories from Mothers with CF

Mental Health

Parents with chronic illness, in particular, often face difficulties in psychosocial, emotional, cognitive, physical, and organizational domains, such as tiredness, pain, loss of capacity, stigmatization, less time with their children, adverse outcomes on family well-being, and household accidents.[11] Unfortunately, prior studies have not defined the CF team’s role for parents with CF or explored specific solutions for an improved parenting experience for PwCF.[2] Jacob et al., therefore, conducted a systematic review in 2020 to explore the mental health effects of parenthood for people with CF.[11] Jacob found that parents with CF generally had positive feelings towards parenthood but feared adverse health outcomes.[11] Parents with CF described parenthood as a beautiful experience, their most significant accomplishment, and a source of motivation to improve their health.[11,12] Specifically, CF parents reported they experience guilt due to their limited abilities and their absences due to their medical needs. They feel the need to choose between spending time with their children or doing their treatments.[11,13] CF parents also reported worrying about the negative impact of CF on their children. Parents with CF also expressed their fears of being selfish for wanting children.[11,14]  In the future, CF parents would like support regarding parental issues, such as guidance to create a solid social support network before the child’s arrival and meetings with other CF parents in person or remotely to get their advice.[11,12]

In addition to physical health concerns that surround being a parent with CF, parents expressed feelings of guilt and anxiety about how their illness impacts parenthood. Example questions and concerns women with CF discussed at the July 29, 2020 CFReSHC Patient Task Force meeting on parenthood include:

• Will my low energy and fatigue affect time with my child? 
• How CF will affect my child? Will they grow up with anxiety over my health? 
• How do I explain CF to a child? Will they live with the fear of my potential death? 
• How does my absence due to long hospital stays affect my child’s sense of security and well-being?
• What if I am unable to care for or comfort my sick child for fear of contracting germs? [11,12]

Women with CF also report guilt regarding the possibility of dying and leaving their child motherless [13,14]. 
In addition, parents with CF worry about how to talk about their illness to their children about their disease and prognosis.[2,12] In a 2023 Cystic Fibrosis News Today article titled, “How my Daughter and I Used Mindfulness for Anxiety and Life,” Jennifer Bleecher, a mom with CF, discusses how mindfulness helped her and her daughter deal with the uncertainty of her CF diagnosis.  Bleecher describes how she spent much of her life balancing age-appropriate talks with her daughter about her disease while also trying to protect her from additional anxiety from the internet and social media. As anxiety crept into their lives, she said, “ We embraced mindfulness and faith to slow our minds down and breathe while finding the hope and beauty of the day.[15]