Fertility Challenges for Individuals with PCD

Fertility care matters for individuals living with primary ciliary dyskinesia (PCD) because they are more likely to face fertility challenges. PCD is a rare genetic condition that affects tiny hair-like structures called motile cilia. Cilia help move things in the body, and they are present in areas like the lungs, fallopian tubes, and parts of the male reproductive system. In women, problems with cilia in the fallopian tubes can potentially cause infertility or issues like ectopic pregnancies. For men, reduced sperm count or abnormal sperm movement could lead to infertility. However, we still do not know how widespread these fertility issues are, especially among women.

Fertility care involves various services, including awareness, support, and management related to fertility. People with PCD can benefit from fertility care since it helps them make informed choices about their reproductive health. If necessary, procedures like in vitro fertilization (IVF) could increase their chances of becoming pregnant. Unfortunately, there are currently no clear guidelines for including fertility care in routine PCD treatment. Recommendations for fertility care are limited and often unclear.

Research shows that people with cystic fibrosis (CF), another rare lung disease, also deal with fertility problems. In fact, adults, teens, and parents of children with CF tend to know they might have fertility issues but often lack detailed Information specific to their condition. Studies on CF have emphasized the need for clear education regarding reproductive health.

To learn more about fertility care for people with PCD, we used data from a large global study called COVID-PCD, which collected information directly from individuals with PCD. Our goal was to investigate how often people with PCD are referred to fertility Specialists, their sources of information, and their satisfaction with the fertility information they receive.

#Research Methods

We gathered our data by using a questionnaire focused on fertility that was part of the COVID-PCD study. This study commenced in 2020 in collaboration with PCD patient support groups, aiming to follow PCD patients during the pandemic and answer other PCD-related questions. The study included participants of all ages with PCD from around the globe, using an online, anonymous approach. The questionnaires were offered in several languages.

We obtained approval from the ethics committee in Bern, Switzerland, and collected informed consent from participants. We followed guidelines to ensure the quality reporting of our observations.

Participants signed up through the study website and first received a baseline questionnaire before weekly follow-up questionnaires. We sent out the fertility questionnaire via email and followed up with reminders to ensure participation.

We designed the fertility questionnaire by reviewing existing literature and engaging with fertility experts and members of PCD support groups. Separate questionnaires were made for adults, adolescents, and parents of younger children with PCD. Translations were verified to ensure accuracy.

#Fertility Care and Information Needs

In our study, we focused on adult participants and asked if they had ever been referred to fertility specialists, when this happened, and who made the referral. We calculated the time between when they were diagnosed with PCD and when they saw a fertility specialist.

About half of the adult participants reported visiting a fertility specialist. Men were somewhat more likely to have seen a specialist than women. The average age when adults visited a fertility specialist was around 30 years, but there was a noticeable delay, often around 10 years from their PCD diagnosis.

Most people did not get referred to specialists by their PCD doctors. Instead, many found specialists themselves or were referred by non-PCD doctors. This suggests that PCD care does not automatically include fertility discussions, which could lead to delays in necessary care.

Participants shared their opinions on whether they felt they needed fertility care, how they sought fertility information, and which sources they relied on. Many said they wanted to be referred to specialists, but opinions varied on when referrals should happen. Some felt that all individuals should be referred, while others thought only those wanting children should receive referrals.

Most participants expressed a desire for improved fertility information. Many reported searching for information online or in scientific articles. A significant portion had discussed fertility issues with healthcare professionals, particularly adults. However, satisfaction with the information received was mixed. Only about half felt satisfied with what they learned about fertility.

Participants expressed the need for clearer and more detailed information regarding how PCD affects fertility. Many wanted to know more about fertility Treatments and how factors, such as age and lifestyle, could influence their fertility.

#Results of the Study

Overall, our findings underscore that many individuals with PCD are not getting the fertility care they need. Only 48% of adults with PCD reported ever seeing a fertility specialist, and the majority were not referred by their PCD doctors. This raises concerns about how well fertility issues are addressed as part of regular PCD treatment.

Women seemed to be referred to specialists later than men. Given that fertility in women tends to decline earlier, this delay could be particularly concerning. Many participants highlighted gaps in the information they received, especially regarding how PCD impacts fertility.

Even though most felt that fertility specialists should be involved in their care, there is uncertainty about when the right time for referrals is. The majority of participants also stated that early discussions about fertility could be beneficial.

#Strengths and Limitations of the Study

This study benefits from the largest group of people with PCD reporting their experiences. By conducting our research online and anonymously, we attracted participation from individuals worldwide, including those who might not typically get involved in research.

However, there are limitations to consider. Some participants may have difficulty recalling detailed conversations about fertility care, which could create bias in the responses. Moreover, fertility is a sensitive topic, and those with negative past experiences might be more inclined to participate in order to share their concerns.

#What We Learned from This Study

Currently, young adults with PCD do not receive fertility care as part of their standard treatment. They tend to be referred to specialists only when fertility problems arise and typically at their own initiative. This delay is concerning, particularly for women, since their fertility can decline more quickly.

Our findings suggest that healthcare providers must better integrate fertility discussions into routine PCD care. By addressing fertility issues at the time of diagnosis, or at least during transitions to adult care, doctors could provide much-needed information about the impact of PCD on fertility.

In conclusion, it is essential to improve fertility care for individuals with PCD. Fertility specialists should become a standard part of care, and PCD doctors should provide initial information about fertility. Early discussions and referrals can help ensure that individuals with PCD are better supported in their reproductive health decisions.