This year marks the 25th year I have survived paroxysmal nocturnal hemoglobinuria paroxysmal nocturnal hemoglobinuria: (par-uk-SIZ-muhl nok-TURN-uhl hee-muh-gloe-buh-NYOOR-ee-uh) A rare and serious blood disease that causes red blood cells to break apart. Paroxysmal means sudden and irregular. Nocturnal means at night. Hemoglobinuria means hemoglobin in the urine. Hemoglobin is the red part of red blood cells. A… . (PNH) How fortunate and blessed I feel, that I can say half my life I have survived my PNH diagnosis. Taking a look back at how my journey started -- just having completed college and newly married -- the first thing I did after being diagnosed was to seek out the support of other patients.
I found help through the National Organization for Rare Disorders (NORD) who mailed me a list of about ten patients and utilizing postal mail, reached out to everyone on the list. It was obviously a really slow process by today’s standards and not many responses were received. Some years later, I found a small group of about five PNH patients on a Yahoo group chat site. I was truly inspired by a woman, Rebecca Gaskin, who started the chat group. Although she suffered severe abdominal pain every day, she had huge aspirations to bring patients together, sell T-shirts for the cause, and reach out to specialists to gain knowledge to pass along to others. Rebecca was a true trailblazer.
When Rebecca passed away from complications of PNH in July of 2003, I was deeply saddened and I felt had lost a true friend. She lived halfway across the country and although I had never met her in person, she left a significant impression on me. Like me, she was a young wife and mother of two small children. While I mourned the loss of my friend, I realized Rebecca’s work needed to continue.
My continuation of her work has led me to meet and connect with many people with PNH. I have enjoyed many friendships along my PNH journey that have benefitted me and inspired me to continue to help others. And those same people who I have been privileged to help, have helped me more than they will know because I’ve come to realize that this disease isn’t just a battle of the bone marrow bone marrow: The soft, spongy tissue inside most bones. Blood cells are formed in the bone marrow. , it’s an emotional and mental battle as well. For many years, I lived in a state of denial. It’s taken some wonderful friends to pull me out of that mental state and force me to face PNH head on.
For the past six years, I was given the opportunity to serve on the PNH Research and Support Foundation where I have been able to assist many patients in being able to visit a specialist through its grant program, and I have had the privilege of speaking to patients and caregivers at NORD conferences around the country. The PNH Foundation’s recent efforts formed a strategic alliance with AAMDSIF, and I am now honored to be able to serve on its Board as well. I continue to work with the PNH Foundation by serving as the Chair of its Committee and hope to inspire others to keep the spirit of support and awareness alive.