Living with Cystinosis: The Challenge of Reproductive Health

Background: Improved medical treatments have extended the lifespans of individuals with cystinosis, a genetic condition involving the build-up of cystine that damages kidneys, eyes and other organs. Adults with this rare condition now consider parenthood a goal.  Some women have had documented high-risk but successful pregnancies; no men with cystinosis have been documented as fathering a child due to azoospermia.  The concerns and needs for information around reproductive health have only begun to receive attention from cystinosis clinicians, researchers, and advocacy organizations.

Methods: An online English-language survey was distributed via social media and advocacy groups to adults with cystinosis worldwide. The survey included voluntary multiple choice and Likert scale questions, with space for open-ended comments, about current medical, mental health, and psychosocial concerns. Reproductive health questions explored respondent’s planning to have or adopt children, who they discussed reproductive health with, and whether they currently used any form of birth control.

Findings: Responses (N=103) were received from individuals >18 with cystinosis from 10 countries. Of female respondents ages 18-35, 37% hoped to have biologic children, 21% were considering adoption, and 47% were not considering having/adopting children. Of female respondents, 54% of those wanting biologic children (n=22) reported being concerned/very concerned about their ability to have children. Open-ended responses included concerns about not having information about safety of pregnancy for themselves or for baby, the need to stop/change trusted therapies during pregnancy, and what to tell their partners. Half (n=18) of these women had not discussed concerns about reproductive health/childbearing with any health professional and 56% (n=23) reported not using any form of contraceptive. 

Of men 18-35, 35% (n=8) reported planning to have one or more biologic children, 26% (n=6) were considering adoption, and 52% (n=12) were not considering having/adopting children. Of these, 64% (n=16) reported being concerned/very concerned about their ability to have children in the future. Some men indicated awareness that cystinosis would likely impair their ability to biologically father a child and hoped for medical intervention, but others did not appear to be aware of the impact of cystinosis on fertility. One male respondent in this age group reported having one or more biological children, but declined to share contact information at the end of the survey. Male respondents had not discussed concerns about reproductive health/infertility with any healthcare provider (56%; n=14), and 58%(n=14) reported not using any form of contraceptive.

Conclusions and Implications: More research and accurate reproductive health information, guidance, and intervention, is needed to support the varying medical and decision-making needs of women and men with cystinosis, a diagnosis which once made both adulthood and parenthood unlikely.  These individuals may face discrimination in the adoption process due the perception of their rare disease as life-shortening. Many of these patients rely on their nephrology team and its social worker to discuss these critical issues, open up these conversations, and connect patients with appropriate specialists.