Jireh's Journey

Diagnostic Odyssey and Life's Ups and Downs

My name is Jireh, and I have Fabry Disease.

My rare disease journey started with 2 strokes at the age of 30. My first stroke was from a ruptured artery while I was asleep. Thankfully, my wife was able to wake up and call 911. After 3 attempts and almost a week later, doctors were able to place a stent where the artery had ruptured. Upon their workup, doctors found that I had multiple abnormal vessels that ran up and down my neck. They recommended I see a geneticist after being discharged from the hospital.

2 months after my first stroke, I suffered an ischemic stroke—a blockage of blood flow to the brain. After a second gene panel, I was diagnosed with Fabry Disease. Fabry Disease is a progressive diagnosis, meaning that there is no cure. It is caused by a mutation on GLA mutation that leads to an enzyme deficiency which can affect various parts throughout the body. A month after my diagnosis, I started IV enzyme replacement therapy.

The following months, I’d progress through rehab, continue infusions, and see improvements. However, after 6 months from my initial medical leave, I was informed that my job could not accommodate my role as an oncology research nurse.

After finding out I would lose my job, I experienced a “mini-stroke.” I felt so defeated as every time I’d make progress, I was again hospitalized. A few months later, I’d finish physical therapy. But just a week after celebrating my birthday, I was hospitalized again for seizures.

Through this journey, I’ve learned to lean on my faith and my loved ones. To take time to embrace the gift of today. That no matter what your abilities are, you can still live each day with purpose.

“Be joyful in hope, patient in affliction, faithful in prayer” – Romans 12:12