aimofcontact:"We learned from our discussion with Max that cystic fibrosis (CF) has a profound impact on the whole family – not just the patient. In order to gain further insight into this subject, we sought to engage with the next of kin of CF patients. We were able to make contact with Julia through the self-help group of Mukviszidose EV, of which Max is a member. She subsequently reached out to us following Max's request for potential candidates for an interview with a patient group. She and her husband have a six-year-old daughter carrying the F508del mutation in the CFTR gene and a toddler without CF. ",
insights:"The interview with Julia shifted our focus to a new group of stakeholders: The patient’s support systems. Most people do not get genetically tested before having children and due to that, many people could get in the position of having a loved one with CF. We considered the societal impacts, such as the rising health care costs, which Nicole Friedlein emphasized during our interview. She explained how the long-term nature of treatment, frequent hospital visits, and the need for specialized medications place a significant financial burden on both patients and the health care system. This insight shaped our understanding of the broader economic challenges faced by families and institutions involved in managing chronic illnesses. Meanwhile, Julia brought attention to the psychological impact, stressing the emotional strain that accompanies not only the illness itself but also the financial pressures. She also showed us more perspectives on parenting of children with CF, than we heard before, and told us about the way from the first diagnosis to growing accustomed to and living with a child with CF. Julia also confirmed that most children will have no issue using an inhalative therapy like we envision our gene therapy to be and shone light onto the comparatively very good situation for CF patients in Germany. ",
implementation:"This interview helped us confirm the delivery method we planned to use as we were previously concerned how and if children would be able to use the inhalative therapy. Besides that, Julia gave us further insights into the emotional side of dealing with CF and we were able to discuss the situation for patients in Germany in comparison to other countries better in later interviews [Link Joshua]. ",
interview:<>
<QaBoxq="Can you tell us a bit about your family? How old are your children and yourselves?"a="I’m 37, my husband is 44, and our daughter is six, turning seven soon. We also have a son who’s about a year and a half."/>
<QaBoxq="Does your son also have cystic fibrosis?"a="No, he doesn’t."/>
<QaBoxq="When was your daughter diagnosed with cystic fibrosis?"a="Right after birth. She was transferred to a bigger hospital due to an intestinal blockage and had surgery. After about two to three weeks in intensive care, the cystic fibrosis diagnosis came through newborn screening. At that time, the results took longer to process than they do now."/>
<QaBoxq="That intestinal issue can happen for many reasons, right?"a="Yes, it was all new to us. The beginning was difficult, but things have gotten better since then, and we’re very grateful."/>
<QaBoxq="How did you feel when you first heard the diagnosis?"a="It felt like our world was falling apart. I still remember the moment—it was like being in a movie. We were told in a separate room, and it felt overwhelming. One doctor even suggested we go home to think about it in peace, but all I could think about was returning to my child. It was a lot to take in, especially thinking about how we’d tell our family."/>
<QaBoxq="That sounds incredibly hard. How did you handle it as time passed?"a="It was tough, but we were fortunate to have a doctor who really understood what we were going through, as he had a disabled child himself. He never scared us unnecessarily and guided us step by step, which made a big difference. We know many families who live in constant fear, but since those first months, we’ve learned to manage the situation without being overwhelmed by fear."/>
<QaBoxq="Did any particular support help your family adjust to the diagnosis?"a="Yes, the rehab program we attended was a huge help. It was a family-oriented program, so my husband could be there too, which was important since I manage most things day-to-day. It really helped our daughter realize she’s not alone—she met other kids with similar conditions, which was a huge comfort."/>
<QaBoxq="How did you explain the illness to your daughter?"a="We try to give it as little attention as possible in daily life. She’s been inhaling medication since she was eight weeks old, and it’s just part of her routine now. Thankfully, she doesn’t fight it or question it much, and her school and kindergarten haven’t made a big deal of it either, which is what we wanted."/>
<QaBoxq="Does she ever ask about her illness compared to her younger brother, who doesn’t have cystic fibrosis?"a="She does sometimes ask why she’s sick and he’s not, but she’s not upset by it. We’ve made sure not to give her any special treatment because of her illness, which can be hard at times, but we want her to understand that her illness doesn’t define her."/>
<QaBoxq="That sounds like a good balance. What about medications—did she start on any special treatments?"a="Yes, she started on Orkambi at around three years old but had to stop briefly due to high liver values. Now she’s on Kaftrio, which she started shortly before her sixth birthday, and it’s been going well."/>
<QaBoxq="Did you face any issues with the health insurance for covering these medications?"a="Fortunately, no. We have statutory health insurance, and they’ve covered everything without any issues. We’ve heard it can be more complicated for those with private insurance."/>
<QaBoxq="Have you ever had difficulties with access to medication?"a="Yes, there have been times when we’ve had to wait a few days for certain medications, like Kreon or antibiotics, especially in the winter. But we always plan ahead and keep a buffer, so we’ve never been without what we need."/>
<QaBoxq="What would you say has been the most affected area for your daughter?"a="Her intestines are the most affected. Before she started Kaftrio, she had fatty stools and frequent bowel movements, even with the right Kreon dosage. Since starting Kaftrio, this has improved significantly."/>
<QaBoxq="What kind of support would you have liked to receive earlier?"a="We wish we had been given more information about available services early on. We found out about Mukoviszidose e.V. from another family, not from our doctor. It would have been helpful to know about these resources right from the start."/>
<QaBoxq="How about psychosocial support?"a="Initially, we didn’t have any psychological support—our doctor took care of everything. Now, where we live, there are more resources, and we think it’s a good thing. The rehab helped a lot in coming to terms with everything. We wish we had known about such services sooner."/>
<QaBoxq="Does your daughter do physiotherapy?"a="Yes, once a week for about an hour. She’s been going since she was discharged from the hospital, and she has a close bond with her physiotherapist. They’ve been working together since she was a baby, and she goes by herself now."/>
<QaBoxq="Are there any restrictions for her in terms of physical activities?"a="No, not really. She does dancing once a week, physiotherapy, and she’s even done a swimming course without any problems."/>
<QaBoxq="How do you handle communicating about her illness?"a="We try not to make a big deal of it. When I looked for information, I found what we needed. There’s nothing we’ve really felt was missing."/>
