Mom talk: Living beyond the fear of a genetic condition
Navigating the 'what-ifs' when a rare disorder runs in the family
Last year, I sat down with my friend to watch our sons play football. She confided in me that she was concerned about her son continuing to play because he’d been showing symptoms that raised a red flag: slow growth, frequent injuries, and other issues that didn’t add up for an otherwise healthy 15-year-old. My friend said that she was beginning to suspect a rare disease might be at play, possibly something genetic.
She shared that she knew there was a family history of a specific genetic disorder, but her family members didn’t talk openly about it. As someone living with epidermolysis bullosa (EB), a rare genetic skin disorder, I felt the weight of her words and was thankful I could relate to her regarding such a personal topic. Our conversation led to a question we’ve both grappled with: How do we talk to our kids about their future, including the possibility of having children, when genetic disorders run in the family?
We went down the anxiety-riddled path of “what-ifs.” What if her son’s symptoms were the start of something serious? What if he has the mysterious hereditary condition that her family avoids discussing? What if our kids carry something that could affect their own kids one day? With EB, I’ve wrestled with the same uncertainties. The thought of passing on a condition that causes painful blisters and fragile skin is daunting.
As we watched the boys play football, our conversation turned to a shared realization: We can’t let fear dictate our lives or our children’s. We agreed we didn’t want our kids to grow up feeling like their genes are a ticking time bomb because the truth is, anything can happen to anyone. My nursing career has repeatedly shown me that unexpected illnesses or challenges can affect anyone, regardless of genetics. Focusing too much on the “what-ifs” robs us of the present.
We reflected on how fast our kids are growing up. We both want to equip our children with knowledge about family history, genetics, testing, and options without burdening them with too much fear. It’s a difficult balance, but we believe in being open and honest with our kids.
By the time the game ended, we were grounded by our shared perspective and thankful for our health and friendship. Life with rare diseases such as EB isn’t easy, but it’s still life, and as moms, we’re striving to be present for it all.
Having a friend to relate to that evening helped me to process the complexities of genetic disease and motherhood. When I got home, I thought about how our kids will one day navigate these genetic questions for themselves. Hopefully, they won’t be alone either as they weigh the risks, make tough calls, and carve their own paths.
Note: Epidermolysis Bullosa News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Epidermolysis Bullosa News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to epidermolysis bullosa.
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