The story of Courtney

As a nurse working in the height of COVID in 2020, while raising 2 little children ages 5 and 2, I began having strange symptoms. I suddenly went from being the nurse to being a patient in a matter of days.

The story of getting my actual true diagnosis with HNPP (Hereditary neuropathy with pressure palsies) took over 2 and a half years. HNPP is a hereditary genetic neuropathy that can lead to pressure palsies, temporary paralysis and permanent nerve damage. This is a rare genetic disease caused by the lack of gene PMP22 protein leaving the nerves susceptible to damage. There is no treatment, no cure, and it is a lifelong disease. The worst part is knowing that my now 8-year-old and my 5-year-old have a 50% chance of having it as well. But I am so thankful to have gotten the diagnosis as I searched for years trying to get one, from being told I was crazy at the doctors, to going out of state and to multiple doctors searching for a diagnosis.

HNPP causes severe pain and fatigue, even worse than patients with multiple sclerosis. I struggle daily with the disease and at 31 years old, I cannot stand on my feet for long periods, or walk long distances, I can no longer play with my children the way I want to or have the energy for, I am in constant pain, and I have bad days (most of the time) but I try not to let the bad days win.

I am a Christian and my faith in God has kept me going, he gives me the strength to continue and live this life (although with a rare disease) to the best of my ability, for Him. He picks me up daily and sets me on the solid rock.

I have an amazing support system in family, friends, and church family. Without them, I truly don’t know what I do. They help me in so many ways I couldn’t begin to tell you.

I share my story and I’m participating in this research trial of HNPP in hopes that one day there will be a cure or a treatment. As a nurse all I’ve ever wanted to do is help people, and through this and the awareness of the disease, I truly believe we are so close to getting the answers we deserve. Without the people that suffer from rare disease telling their story, we will never move closer. We need awareness and we need each other!

With love,