The guilt of genetics: A mother’s struggle with hereditary illness

Motherhood is a beautiful, chaotic, and deeply fulfilling journey. It’s also filled with worry. We fret over our children’s scraped knees, their first heartbreaks, and whether we’re doing enough to prepare them for the world. But for mothers like me who live with a rare genetic illness like hereditary angioedema (HAE), there’s an even heavier weight — a question that lingers in the back of my mind every day.

Did I pass this down to them?

HAE is unpredictable and relentless. It sneaks up without warning and makes me feel like my body is constantly at war with itself. But the hardest part isn’t managing my own symptoms; it’s the fear that I passed this burden to any of my four children. The “Jeopardy” theme music constantly plays in my head as I wonder “if,” pray there will never be a “when,” and wait for the answer.

Recommended Reading

February 6, 2025 News by Patricia Inácio, PhD

First HAE patient dosed in Phase 3 trial of NTLA-2002 gene therapy

Could my daughter have HAE?

Since she was a baby, my daughter has had sensitive skin, including eczema and a recurring rash a doctor called “traveling hives.” In middle school, her feet swelled multiple times, but each time she insisted she’d stepped on a bee. I found it odd, having never stepped on one myself despite running barefoot as a child. After that, she developed random, severe eyelid swelling. Allergy tests revealed multiple seasonal allergies, and medication was prescribed. Eventually, the swelling stopped, even after she discontinued treatment.

A few years ago, I saw a photo in an HAE Facebook group of someone’s swollen eyelids during a flare, and it hit me: What if my daughter had HAE but presented differently from me? I immediately contacted my specialist, who scheduled testing, but the results came back negative.

A few weeks ago, I picked her up from her dad’s house. Ten minutes later, her eyelids, which had been normal when I arrived, were red and swollen. A virtual doctor’s appointment led to Benadryl (diphenhydramine), Claritin (loratadine), and hydrocortisone cream, and within an hour, she was back to normal.

The next night, just as I was leaving to take my sons to their dad’s, she lifted her sweater to show me small red bumps on her abdomen. Her eyelids were swelling again. I gave her the same medications, but by the time I grabbed the hydrocortisone, the bumps had quadrupled in size. Alarmed, I took her with me.

When I saw her after the 25-minute drive, my heart sank. Her body, from her forehead to her waist, was covered in massive, swollen welts, and her throat was visibly swollen.

Panic sets in

Parents are supposed to stay calm for their children, to be their anchor in a storm. I didn’t. I couldn’t. I was terrified. The hospital was 30 minutes away, and I wasn’t sure we had that much time. I rushed to the fire station nearby, calling 911 on the way. Paramedics treated her, started an IV, and got her to the emergency room, where doctors had no answers for the swelling but diagnosed pneumonia.

I refused to just carry on without answers. What if she had HAE type 3, and that’s why she tested negative? What if this happened again and I couldn’t get her to emergency services in time?

I sent a desperate MyChart message to my specialist and pushed for further evaluation. Thankfully, they were able to fit my daughter into the schedule about two weeks later. The following day, her pediatrician called and agreed that HAE was a possibility and had her come in for additional tests regarding the pneumonia while we waited to see the specialist. The tests confirmed a mycoplasma infection, also known as walking pneumonia.

Last week, our specialist confirmed she doesn’t have HAE. While not impossible, a type 1 parent such as myself likely wouldn’t pass down type 3. Her reaction was a severe but rare immune response to the infection that caused the pneumonia.

My daughter was spared, but fear remains

During our conversation with the specialist, I admitted how guilty I felt for completely losing my composure. I should have been a steady presence for my daughter, but instead, I was far from calm and visibly panicked. The doctor looked at me and said, “You’re so used to being rare. It’s all you’ve ever known. It’s real, and your reaction was understandable.”

If any of my children inherit HAE, I will be their fiercest advocate, ensuring they have the best care and access to treatment. But that doesn’t erase the guilt of possibly passing this disease to them.

I know I didn’t choose to have HAE, but the weight of hereditary illness lingers. As parents, we often fight to break cycles, not continue them. Still, I remind myself that knowledge is power, medicine has advanced, and my children would never face this alone.

No matter what the future holds, love remains my constant. It is the shield in the darkness, the force that binds me to my children, and the light that will guide us forward — always.

Note: Angioedema 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 Angioedema News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to angioedema.