My hTTR-PN Journey

About a year ago, my health took a sudden and frightening turn.

I had been living with Ehlers-Danlos Syndrome (EDS) and POTS, so I was no stranger to chronic illness. But this felt different. My symptoms quickly escalated beyond anything I had experienced before.

I fainted in my bathroom, resulting in a minor concussion. My shortness of breath became so severe that asthma was considered. The fatigue was overwhelming—I was forcing myself just to get out of bed each day. My POTS symptoms intensified, and treatments that once helped, including IV therapy, no longer provided relief.

Simple daily tasks became impossible. I couldn’t wash my hair, walk up the stairs without assistance, or take care of my home. Cooking and cleaning were out of the question. I lost nearly 30 pounds in less than three months and was dealing with nausea, loss of appetite, and increasing weakness.

As my condition worsened, I was forced to take a medical leave of absence. That was incredibly difficult for me. I am deeply passionate about helping others through my work with Connected Warriors, where I provide trauma-conscious yoga to veterans, active-duty military, and their families. Not being able to show up for my community in the way I was used to felt like losing a part of myself.

Despite everything, my family stood behind me every step of the way, offering unwavering support during one of the most challenging times of my life. Even with all of this, answers were hard to find.

At different points, I was told it could be depression, a POTS flare, low potassium, or part of my existing conditions. Bloodwork showed anemia, but that wasn’t unusual for me, given my history. But deep down, I knew something more was wrong. I remember crying to my husband, telling him I felt like something was being missed—something bigger than what we were seeing.

Determined to find answers, I pursued additional genetic testing. A previous test had shown a variant of unknown significance (VUS) in my TNXB gene, but it didn’t explain my symptoms.
The additional testing changed everything.

I learned that I carry the TTR gene mutation associated with hereditary transthyretin amyloidosis and was diagnosed with hATTR-PN (hereditary transthyretin amyloidosis with polyneuropathy). At the time, I had never even heard of amyloidosis. I turned to online communities for support and was able to quickly connect with a specialist, which was a blessing. After extensive testing and a second genetic confirmation, I finally had answers.

After months of uncertainty and misdirection, I finally understood what was happening in my body. Receiving my diagnosis was life-changing—but it also gave me something I desperately needed: clarity.

Today, I am learning how to navigate life with hATTR-PN while continuing to advocate for awareness. My journey has reinforced the importance of listening to your body, trusting your instincts, and pushing for answers—even when it’s hard. If sharing my story helps even one person feel less alone or leads them to the diagnosis they’ve been searching for, then it’s worth it.