What a shock it was when my dermatologist rushed into the room, visibly excited. He grabbed his phone, exclaiming, “I found something! Just wait here; I’ll be right back.” After a moment of uncertainty, he returned with an article and a diagnosis: “Monilethrix?” I could hardly believe it. The last line struck me cold: “There is no known treatment.”

At thirteen, I began to lose my hair, attempting to hide it with extensions throughout high school and college. Earlier this year, I learned I had Lupus, which led to noticeable bald patches, forcing me to buy a wig. I thought this was just a temporary fix as I anticipated treatment. But then I received the grim news that I also have Monilethrix, a rare genetic mutation.

My appointment turned uneventful after that shocking revelation. My doctor and his assistant admitted they had never encountered Monilethrix before. The nurse prepared me for a biopsy, explaining the process, but I opted to postpone it. I left the clinic feeling overwhelmed.

As a nurse drew my blood, I felt tears welling up. My doctor had given me hope before, but now, with the diagnosis of Monilethrix, I felt betrayed. There was no treatment available, and the weight of that reality hit hard.

Driving home, I felt rage bubbling within me, yet I didn’t know whom to blame. I found myself honking at cars, releasing pent-up frustration. Despite my struggles with science in school, I decided to research Monilethrix. I discovered it affects the hair structure, making it fragile and leading to hair loss.

Monilethrix is caused by a mutation on chromosome 12, affecting the production of keratin proteins essential for hair growth. The condition is inherited in an autosomal dominant manner, giving me almost a 100% chance of passing it to my future children.

Despite my doctor’s claim of no treatment, I scoured databases and studies, finding limited options. Some individuals had minor success with Rogaine, which I was already using, but the silence from credible sources was disheartening. I felt defeated, realizing I would never be ‘normal.’

Growing up, I held onto the belief that life was fair. Now, with this added struggle on top of Lupus, I felt the kindness of life fading. I dreaded seeing myself without my wig, often breaking down in tears at the mere thought.

Later that day, I met with my counselor, hoping to find some solace. When she advised me to embrace my situation, suggesting I look into headscarves, I felt anger well up inside. Social media offered no comfort either, presenting hollow platitudes about self-acceptance that only deepened my despair.

In my loneliness, I reached out to a close friend, Emma, who understood my struggles. Our conversation shifted my mood, filled with laughter and a sense of connection. Her remark about my genetic mutation being “kind of cool” surprisingly uplifted me.

Navigating relationships became another challenge. I confided in a guy I was talking to about my condition, and his lighthearted response eased my worries, if only for a moment.

As I approach my twenty-first birthday, I yearn for the freedom to enjoy life without the constraints of my condition. Every joyful aspiration feels tainted by the reality of wearing a wig.

It’s still fresh; just a week since my diagnosis. I’m left with countless questions. How do I cope without a roadmap or cure? Will it ever get easier?

Typically, my stories conclude on a hopeful note, reflecting growth and resilience. But this one feels different. I’m left in uncertainty, grappling with feelings of isolation and fear.

So, I’ll take it one day at a time, step by step. Perhaps, someday, I will find peace.

References and further information about Monilethrix: 1. Summary by Journal of Investigative Dermatology 2. Overview from the Genetic and Rare Diseases Information Center 3. Genetic information from Orphanet 4. Article on keratin gene connection, found at jidonline.org 5. Entry from OMIM