Rare diseases may only affect a small portion of the greater population, but today, on Rare Disease Day, we recognize hundreds of thousands of patients worldwide and how their conditions affect their lives. Autosomal recessive polycystic kidney disease (ARPKD), a less common form of PKD, affects 1 in 20,000 children, and those who survive the newborn period will often need dialysis or a transplant by age 10. As the first and only person in her family to have been diagnosed, Elizabeth Hogan was shocked to learn at age 12 that she had ARPKD, but she’s been raising her voice to educate others ever since:
There are some things that we all have memorized—your best friend’s phone number, your mom’s birthday, the password to your email, and the list goes on. Unlike some of my family and friends, I’ve had something else memorized since I was 12 years old: my ARPKD speech. It begins, “I have autosomal recessive polycystic kidney disease. ARPKD means I have many cysts on my kidneys that will continue to grow in number and size until my kidneys shut down. There is no cure. The only treatment is a transplant. I also have congenital hepatic fibrosis and portal hypertension which are associated with ARPKD,” and so on. Every time someone asks me about ARPKD, these are the words I share.
It wasn’t until later in life that I realized not everyone has a speech about their medical condition. I’ve met people with well-known diseases such as diabetes, and after the initial, “I have diabetes,” the conversation ends. No explanation necessary. No speech memorized.
So why do I have to explain ARPKD to every person I meet? It is because ARPKD is a rare disease, affecting only 1 in 20,000 children. While treatment has improved and the survival rate has increased, ARPKD is still a life-threatening condition. Communicating how serious this disease is has been my biggest challenge. I look healthy but my kidneys, liver and spleen are not and I will continue to look healthy until my kidneys begin to fail. That’s why I volunteer with the PKD Foundation. I want to help others who have not been as fortunate in their ARPKD journey as myself. I participate in the Walk for PKD, organize local fundraisers and this year will be going to the PKD Connect Conference. This is all in effort to not only help others, but raise awareness for this devastating disease, too. I will continue to volunteer and raise awareness until there is an end to ARPKD.
You can help rare disease patients like Elizabeth raise awareness—visit our website to learn more about PKD and educate others.