Growing up with a mother who worked as a healthcare provider, Zachary Schulz, PhD, EdS, MPH, didn’t have the “benefit” of ignorance when it came to his cystic fibrosis (CF) diagnosis. Compared to his peers, he was among the most well informed about the consequences and various impacts that CF was expected to have throughout his life. Frequent infections, chronic coughing, malnutrition — Schulz, 40, said he was always prepared for their potential and has never been naive to the severity of his malady. “ I know what’s going to kill me,” he said. “And the older I get, the more uncertain my life becomes because of the perspective of age training.” 

However, when it came to the near certainty that he, like 97%-98% of all males who live with CF, would prove to be infertile, primarily as a result of congenital bilateral absence of the vas deferens (CBAVD), he chose to associate himself with the remaining 2%-3% who could be fertile for as long as he reasonably could. 

“I had this delusional promise that I was going to beat the odds statistically,” he said. “And very early on, my mom was very much along the lines of, despite the known physical likelihood of males with CF being infertile, telling me that I would surely have a family and children someday.” 

But it wasn’t until he was ready to get married that he decided to find out for sure by undergoing a fertility test. “ And that determined there was no sperm count whatsoever,” he said. “Which is consistent with a lack of vas deferens, which is consistent with some of the weird aspects of being a male CF patient — you have a natural vasectomy.” 

While the test results did not negatively affect his marriage plans or significantly alter his future because, the same can’t be said for all men who have been diagnosed with CF and continue to live longer now that the average age expectancy has climbed to 65 years. 

And while Schulz may have had meaningful conversations with his care team about the options he could consider should he and his partner decide to have children, not all patients may be as well informed or comfortable with this type of dialogue. “The general public is woefully unprepared for discussing anything sexuality related,” said Schulz.

Timing a Fertility Conversation

In the Cystic Fibrosis Clinic at Tulane Lung Center, New Orleans, Louisiana, Christine M. Bojanowski, MD, MSCR, ATSF, and her staff encourage open discussions regarding fertility with their patients at every visit as part of the facility’s comprehensive management approach.

“I introduce this conversation at my first encounter with any adult person with CF, incorporating fertility discussions into the expectation of what is part of routine care,” said Bojanowski, who also serves as associate professor of medicine at Tulane University School of Medicine. “It is always ‘on the table’ for discussion, and I ask directly if my patients are ready to have these conversations. And patients often clearly state whether they are or are not interested in having this discussion when I ask.” 

Examples of signs patients could be ready to have these types of conversations that Bojanowski looks for include asking their own probing questions in an attempt to understand the possible challenges with fertility, expressing a desire for family planning and future children, discussing their relationship status or life plans, and actively engaging in their discussions with providers. Signs that patients might not be ready to have these conversations include avoidance or changing the subject, expressing anxiety or feeling overwhelmed by the topic of fertility, and denying or minimizing personal concerns or recognized facts related to infertility and fertility. 

When entering into these conversations, Bojanowski suggested being direct with messaging, knowing CF-related infertility specifics, and knowing where to refer patients for available local fertility options and resources, including referral practices and potential financial support sources. 

“I also would recommend inviting any partners or family members to a clinic visit to discuss fertility, if desired, fostering an open and supportive environment, and ensuring the dissemination of clear information,” Bojanowski added. “Most importantly, just meet your patients where they need you. Sometimes, a lack of knowledge or misunderstanding of the topic may make a person uncomfortable talking about fertility, which is why I also aim to incorporate some element of patient education when I bring up the topic of fertility during routine visits.” 

To break the ice, Bojanowski said she generally begins all discussions by focusing on overall health and well-being before broaching potentially sensitive topics such as fertility or mental health. Taking an assessment of the patient’s knowledge and feelings on more difficult topics can help to guide the remainder of the chat, she said. “Clear and accurate information is crucial, as is normalizing and validating concerns and emotions that may arise. A collaborative approach with joint decision-making should be taken when formulating a plan of care,” said Bojanowski.

For patients who are younger, Schulz believes that asking the basic questions can be a helpful approach to patients opening up about their thoughts and feelings. “Just ask, ‘Are you sexually active?’” said Schulz. “If they answer yes, okay, you can move on from there. I’m not asking for sex education at that level in a physician’s office, but have the conversations that can be embarrassing for a patient. Because they’re important.”

Helping Patients to Consider Their Options

When the time seems most appropriate, Bojanowski said that all patients in her clinic (including women) are invited to discuss CF-related infertility specifics, as well as their clinical and nonclinical options when fertility is an issue.

“For men, we discuss CBAVD leading to infertility, but not sterility, in vitro fertilization and assisted reproductive technologies, sperm retrieval, third-party reproduction, and adoption or fostering,” she explained. “We also discuss financial support and group support resources, as available.” 

Women are informed about CF-related risk factors that can make pregnancy more challenging, such as thickened cervical mucus, the need to ensure optimized nutritional and weight status, and how to potentialize optimize lung function. 

Despite all well-intended efforts, Schulz warned that many patients could struggle with this reality, even if they’ve seemingly become accustomed to emotionally managing the challenges associated with CF. “If you’re not sexually able, fully, you’re [potentially] somehow seen as less than a man. And the idea of even wanting a family can very much be a rite of passage,” he said.

For clinical alternatives, a recent advance in the treatment and support of patients living with CF is the introduction and incorporation of transmembrane conductance regulator protein modulator therapies, such as elexacaftor-tezacaftor-ivacaftor (Trikafta) and vanzacaftor-tezacaftor-deutivacaftor (Alyftrek), that can now be incorporated into routine care based on genetic variants, said Bojanowski. 

Additionally, Tulane participates in the MAYFLOWERS study, which is adding to the understanding of the impact of CFTR protein modulator therapies on fertility outcomes in women. Advances also continue to be made in optimizing and understanding the role of assisted reproductive technologies and fertility preservation for patients with CF, Bojanowski said. Significant research also focuses on corrective gene therapy for CF, and studies are being conducted to improve mucociliary clearance and reproductive tract health in CF patients. 

“And I think that needs to be brought up for the patient — exploring the options,” said Schulz, who added the ability to pass the disease on to children is discussed, but perhaps not ability to have children. “There is a lot discussed with that on the genetics side, but not the actual procreative basis. And I think that needs to be addressed. If you’re trying to address the desire to have a family, which many Americans have, you need to talk about that and recognize that early on as opposed to making assumptions.”

Bojanowski and Schulz report no financial disclosures.