Newly approved drug offers hope, but my fight continues

I am battling a rare and painful neurological disorder, but thanks to a new FDA-approved drug, I now have hope. My fight, however, is far from over.

My name is Claire Richmond. I’m 36, I’m from Des Moines and I live with acute hepatic porphyria. Now that an FDA-approved treatment is available, my life as I know it could change. In the meantime, I have a mission to advocate for patients like me. I am a voice for my rare-disease community, and I’m in our nation’s capital this week to continue that fight.

A normal day for me begins lying in bed, assessing my body and where it’s at. Depending on my energy level, pain, nausea and neurological symptoms, I make choices to go on a walk, eat breakfast or simply lay low and journal, or read a book. I know that if I do too much in the morning when I’m feeling good, I will have consequences later in my day. It’s a constant struggle to balance my energy and symptoms with my family and other life commitments, but I choose to remain positive.

My worst days are my couch days. The days when the pain in my abdomen is so severe, it feels as though I’m bleeding and being repeatedly stabbed with flaming knives. The bone pain in my legs and arms makes it difficult to move, and I can’t eat due to nausea. Acute hepatic porphyria is considered one of the most painful conditions known to humans.

Diagnosis is half the battle for patients like me because abdominal pain can point to many other ailments that are more common. Once acute hepatic porphyria is determined, it can lead to life-altering issues. Because I’ve had several prolonged and severe attacks, I am now left with permanent nerve damage.

Life wasn’t always like this. I started showing occasional symptoms around my teenage years, but learned to endure them. The symptoms baffled medical professionals, but while they were severe, they were also infrequent.

In my early 30s, the attacks became so severe that paralysis began to set in and affect my organs, which is how I ultimately landed in the hospital for weeks on end. Once I received a diagnosis, that’s when life as I knew it was over.

At 32, I was a marathon runner and a running coach to hundreds of distance runners. Professionally, I had recently finished a dual masters program that helped me realize a career working with non-profits and community health. And just when I got there, I felt like the rug was pulled out from under me.

Fast-forward through three years of battling this disease and learning how to respect my body’s limits with activity and work, and here’s how treatment looks for me right now: Every Monday morning, I head to the John Stoddard Cancer Center and receive a life-saving infusion that helps me remain stable. When I do have an attack, I spend days in the hospital.

Since diagnosis, I have wished for a cure. And in November, my community got one big step closer. A new treatment was released, and it claimed to reduce attacks in acute hepatic porphyria patients by 70%. This new medication could help me and other patients like me stay out of the hospital with just a simple monthly injection.

As I wait to see if this treatment might be a solution, I will continue to navigate my health challenges in a positive way and give a voice to my community on my blog, This Porphyria Life. This week, I am joining rare-disease patients and advocates in Washington, D.C., for Rare Disease Week on Capitol Hill.

If you’d like more information about my journey with porphyria and my patient community, please contact me. I’d be happy to put you in touch with health providers or the American Porphyria Foundation.

Claire Richmond is a graphic designer, writer and porphyria advocate. She serves on the Young Advisory Council of UnityPoint Health-Des Moines, volunteers with the American Porphyria Foundation and co-founded This Porphyria Life, an online community for patients and those who love them. Visit Claire’s website www.daringlyclaire.com to connect and learn more.