Coping With an Extremely Rare Genetic Mutation

How do I navigate my 20’s knowing I’ll never be normal?

What. The. Fuck.

That was my first thought as my dermatologist burst into the consultation room. He seemed shocked, excited even, as he grabbed his phone from the counter.

“I found something!” He exclaimed. “Hold tight. I’ll be right back.”

The door slammed, rattling the walls, followed by silence. Muffled laughter came from the room next door. The paper crinkled underneath me as I shifted in my seat.

When he returned, he handed me an article explaining what he saw underneath his microscope and a diagnosis. “Monilethrix?”

He nodded. “Read it.”

The page shook with my hands as my eyes skimmed over the words. Immediately, I noticed the last line: ‘There is no known treatment.’ My blood ran cold.

“What?”

I’ve written about my hair loss on Medium before.

To summarize my previous article, I began to notice my hair falling out when I was thirteen. I hid the problem with extensions during high school and into college while trying to figure out what was wrong.

Earlier this year, I discovered I have an autoimmune disease called Lupus. Soon after being diagnosed, I noticed bald patches on my scalp. This left me with no other option than to buy a wig.

It’s only for a couple of months, I thought, believing this chapter of my life was ending. The long, luscious, mermaid hair from my dreams would finally come true. After all, I’d start treatment soon. I could heal.

That is, until last week.

When my doctor looked at my hair under a microscope, he instantly knew Lupus wasn’t the end of the story. I also have Monilethrix, a rare genetic mutation with alopecia-like symptoms.

My hopes shattered beneath me in the blink of an eye.

The rest of my appointment was uneventful. After explaining the disease to me, both my doctor and his PA admitted they’d never seen Monilethrix before. “Well, I’m glad to be your first,” I said.

The nurse came to prep me for a biopsy. “How does this work?” I asked.

“First, we’ll inject you with a numbing fluid,” she explained, gesturing to the enormous needle on her tray. “Then, we’ll take a piece of your scalp and stitch you back up. It’s quick and painless!”

I told her I’d rather not do this procedure today, if possible. She agreed. So, I collected my stuff, scheduled a follow-up, and dragged myself down to the lab.

Usually, I’m a pain in the butt about getting blood drawn. This time, though, I sat motionless as a nurse stabbed my arm. I pulled my mask higher up on my face as heavy tears began to swell in my eyes. I couldn’t hold them back anymore.

My doctor had given me hope before this. He encouraged me not to give up and assured me we’d figure out a plan. I wanted to storm back up the stairs, burst in his office, and yell at him for being a liar.

There is no known treatment.

The nurse finished collecting my blood, and I walked out to my car. Rage bubbled inside me, but I didn’t know who to blame. God? Myself? Bad karma? The lack of control felt foreign to me.

I honked at two innocent cars on my drive home. Oops.

Fact: I failed high school chemistry not once, but twice. Also, I dropped out of Biology 101 after killing all my termites during the first lab. The TA looked like she wanted to set me on fire.

Needless to say, I’m terrible at science.

I decided to do some research anyway. By the time got home, my self-pity had faded into determination. As I walked through the door, my dog wiggled with excitement to see me, but I nudged him away and grabbed my computer.

Here’s what I learned:

Monetherix is an extremely rare genetic disease that causes structural deformation in the hair shaft. This deformation is obvious underneath a microscope — each strand resembles a string of evenly-spaced beads.

The condition results in extreme hair fragility and patchy dystrophic alopecia (aka hair loss). It can also be progressive, even causing eyebrow and eyelash loss over time. During puberty and pregnancy, oddly enough, many people report spontaneous hair growth.

Researchers believe Monilethrix is caused by a mutation in a small subsection of chromosome 12 (specifically, gene map locus 12q13, whatever that means). This section is responsible for providing instructions to create keratin proteins, which are essential for healthy hair growth. In those of us with the mutation, the chromosomes produce the wrong directions. Our cells can’t make normal hair because they don’t know how.

Monilethrix is also an autosomal dominant trait, meaning only one parent has to pass down the gene for a child to suffer from the same condition. Each child has a 50% chance of inheriting the gene. This means that, genetically speaking, I have nearly a 100% chance of giving this to my future kids if I have two or more.

Even though my doctor said there wasn’t a treatment, I searched through every database and case study I could find, but to no avail. A few people found some success with Rogaine — which I’ve been using anyway — but otherwise, the internet was eerily silent.

I slammed my laptop shut and put my head in my hands. I will never be normal.

On the bright side, I didn’t kill anything trying to do science.

Growing up, I believed the world had good and fair intentions. I forgave mother nature for giving me Lupus because at least I could heal. Now, on top of autoimmune issues, I have to deal with another disease.

Life doesn’t seem as kind anymore. I can’t bear to see myself without my wig on anymore. It bothers the hell out of me, but I break down into tears every time I take it off.

I was almost glad I’d previously scheduled an appointment with my counselor a few hours after my dermatologist visit. Maybe she would help me stop feeling so angry. But when I told her the news, her response pissed me off even more.

“You have to learn to embrace it,” she said. “There are so many bald, beautiful, sexy women who love who they are.”

Munching on her almonds, she kept talking. When she suggested I buy scarves to put around my head, I almost yelled at her to ‘shut the fuck up.’

Later, I stumbled across an Alopecia blog, which promised me it’s the inside that counts. “Your true friends will love you, no matter what!” It said.

Shut the fuck up.

I scrolled through Instagram and TikTok underneath the hashtags, #alopecia, and #hairloss. Sugar-coated sayings like, “Being different is your superpower!” and, “Lack of hair isn’t lack of femininity!” only made me feel worse.

In between the lines, these fake positivity quotes told me my emotions weren’t valid. It’s my fault for feeling upset because I’m too focused on my appearance; all I need to do is believe my soul is beautiful. As if.

I know I’m not pretty without my hair. I know guys won’t ever like me again, and other girls will hate me for being different.

I know I’ll never be able to love myself.

To all the lying, superficial, ‘inspirational’ accounts, I wanted to scream,

Shut the fuck up!

After searching through too much social media, I felt lonelier than ever. My apartment was quiet. Even my upstairs neighbors were silent — usually, their elephant-like stomping drove me insane.

I knew who to call.

Emma is one of my closest childhood friends. She’s also one of the only people who know about my hair problems. I trust her with the truth — she won’t promise me I’m beautiful either way or try to convince me wearing a wig isn’t a big deal.

We talked for two hours, mostly about random nonsense. It felt relieving to laugh. For the first time all day, I cried over something funny instead of my issues.

And when I told her about my hair, Emma said, “having a genetic mutation is actually kinda cool if you think about it,”

I’m not sure why that made me feel better, but it did.

I also had to deal with another issue — boys. To be honest, I’ve always been the flirty type. It’s how I feel good about myself. I love being noticed, wanted, sought-after.

So I revealed my secret to a guy I was talking to. He recently moved to college a few states away, and I figured I’d never see him again, so why not?

His response: “so ur saying ur secretly a bald old man?”

I smiled and snapchatted back, “lol. isn’t that a total turn off tho?”

“as long as you still have boobs, i don’t really care.”

I’m not sure why that made me feel better either, but it did.

I’m turning twenty-one soon. I’m halfway through college. I want to dance to loud music at concerts and bars. I want to date guys without worrying about them running their hand through my hair when we kiss.

I want to run half-marathons (well, kind of) and attend yoga classes. I want to travel the world, jump into the ocean, do cartwheels, skydive, and be free.

Every blissful thing about my youth is now tainted because I have to wear a wig.

It’s only been a week since I found out I have Monilethrix. I still have a million questions running through my mind. How do I cope when there’s no guidance or cure? Does it get easier? Will anyone ever understand me?

How do I face the rest of my life knowing I’ll never be normal?

My Medium stories tend to end on an optimistic note. I write about who I was, how I’ve grown, and who I am today. They are a collection of memories wrapped up to mean something.

But I don’t have a happy ending here. And unless a scientific miracle happens, I probably never will.

Maybe this story is just me processing out loud, or maybe it’s a desperate cry to connect with somebody. I wish my words weren’t as raw and unsure, but I have no idea where to go from here. I’m lost, afraid, and alone.

So I guess I’ll end with this: All I can do is take it step by step, word by word.

Someday, everything will be okay.

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