Nobody can tell me what’s wrong with me.

The Genetic Paradox

Nobody can tell me what’s wrong with me. It started with my fingers going numb while I was typing at work, and it lasted for three days. When I finally got a doctor’s appointment, he barely looked up from his computer while saying it was probably carpal tunnel.

A week later, I woke up to my roommate Alina cooking bacon and realized I couldn’t smell it. I stuck my nose directly over the pan, the grease popping and burning my face, but nothing.

Alina thought I was joking until I started crying. The urgent care doctor shined a light up my nose for 2 seconds and prescribed antibiotics that did nothing. When my smell came back 9 days later, everything was wrong.

Coffee smelled like pennies. Food smelled like chemicals I couldn’t identify. Then Alina found me in the bathroom at 3:00 a.m. counting bruises on my legs.

23, I said.

There were only seven this morning. The bruises were deep purple and painful, spreading across my shins and thighs. Alina drove me to the ER where they ran blood tests for 4 hours.

Everything came back normal.

Sometimes people just bruise easily.

The doctor said the headache started during an important meeting. Pressure behind my right eye built so fast I gasped and grabbed my face. The pain was so intense I threw up in the conference room trash can while everyone watched.

Then it stopped instantly. The CT scan at the hospital showed nothing.

It’s probably stress, the neurologist said. My hair started falling out in clumps while washing it. The dermatologist said it was alipcia ariata.

Probably stress induced. My joints started dislocating when I reached for things. My depth perception vanished and I walked into walls. The night sweats came but only on the left side of my body. My teeth went numb one by one.

I was at the Mayo Clinic after six different hospitals had found nothing when a young resident asked if anyone in my family had Aaylor’s Danlo syndrome.

I said no, nobody. And she frowned and ordered a genetic test. Anyway, the results came back positive for a rare subtype of EDS that explained everything.

The numbness, the bruising, the joint dislocations, even the distorted smell. It was genetic, written into my DNA, inherited from a parent.

This is definitely familial.

The geneticist said, “One of your parents has to have it, but they don’t.” I said, “My mom’s perfectly healthy. My dad ran marathons until he was 60.” “That’s impossible,” she said.

“This variant doesn’t spontaneously occur. It’s always inherited.” I called my mom immediately.

“I need you and dad to get tested for Aaylor’s Danlo syndrome.” I said, “What’s that?” She asked.

“It’s what I have. It’s genetic. One of you has to have it.”

There was a long silence.

“We’ll get tested,” she said.

Both tests came back negative.

There must be a mistake.

I told the geneticist.

We ran them twice, she said. Neither of your parents carry the gene.

Then how do I have it?

She looked uncomfortable.

There are only a few explanations for that. I knew what she meant. Either I wasn’t their biological child or one of them wasn’t my biological parent.

I confronted my mom and she swore I wasn’t adopted, swore my dad was my father. But her voice shook when she said it.

Meanwhile, I was getting worse. The diagnosis didn’t come with a cure, just a name for why I was falling apart. My vision started going in and out.

My heart rate would spike to 180 while I was sitting still. I fainted in the grocery store and woke up to paramedics asking if I knew my name.

I had my dad tested again at a different lab. Negative. I had myself tested to make sure the diagnosis was right.

Still positive for a genetic condition that required a parent to have it.

Someone’s lying, Alina said while helping me to the bathroom because I couldn’t walk without my knees buckling. I hired a private company to run a paternity test using hair from my dad’s hairbrush.

While waiting for results, my hands started contracting into claws. My skin became so fragile it tore if I scratched it. I had to use a wheelchair because my hips kept dislocating.

The paternity results confirmed my dad was my biological father. So, I had my mom tested at three different labs. All negative.

This is medically impossible.

The latest doctor said, “You have a genetic condition that requires parental inheritance, but neither parent carries the gene.

So, what does that mean?” I asked.

I don’t know, he said. I’ve never seen anything like this.

My mom stopped answering my calls after the third test. My dad said she was just stressed. But when I showed up at their house unannounced, I found them packing boxes.

Where are you going?

I asked from my wheelchair.

We just need some time, my mom said, not looking at me.

Time from what?

From me finding out you’ve been lying about something.

We haven’t lied about anything, she said.

But her hands were shaking as she taped a box shut. I was dying from a genetic disease that couldn’t exist in my body unless someone had lied about who I was. My parents were running away instead of giving me answers.

My tongue went numb that night. My throat started having spasms that made it hard to swallow. Alina found me on the bathroom floor the next morning.

My joints so loose I couldn’t stand. My skin covered in tears from the slightest pressure. When she called my parents for help, their number had been disconnected.

Alina’s sister arrived within 40 minutes. She worked nights at the hospital and came straight from her shift still wearing scrubs. They lifted me from the bathroom floor together, supporting my weight between them while my joints felt like they might slip apart completely.

Every movement sent sharp pains through my hips and shoulders. They got me onto my bed and surrounded me with pillows, positioning them under my knees and along my sides to keep everything stable.

Alina’s sister checked my pulse and looked at the tears in my skin from where I’d been lying on the tile. She didn’t say much, but her face showed concern.

After making sure I could breathe okay and wasn’t getting worse, she left to catch some sleep. Alina stayed next to the bed, her laptop open, searching for information about what we should do next.