A Story of Hope: How a Rare Disease Changed My Life

By: Stephanie Feinberg

“I just don’t want anything to be wrong,” I remember saying. I was lying in a hospital bed a week before my 21st birthday. My right eye was lazy. I was on week three of a migraine. I could barely feel my hands or feet. The neurologist looked at me and said, “Something is wrong.” Other doctors said, “I don’t know if your vision will return to normal … if you will be able to drive again … if your memory will get better.”

I was diagnosed with a rare disease, a neurological condition. My brain constantly has excess spinal fluid surrounding it and reacts as if I have a brain tumor, even though there is no physical mass. I experience headaches, neck pain, visual distortions, memory issues and emotional distress.

Life after my diagnosis continued as a big question mark. I tried to accept what doctors said, “We don’t know.”

Eventually, the ubiquitous, “We don’t know,” drove me to seek out new specialists for answers. After multiple hospitals and doctors, I was accepted into Johns Hopkins Cerebral Fluid Center. My doctor there found the why: my brain has two veins that did not form properly, and as a result, the spinal fluid cannot cycle through. Imagine using a garden hose with a kink, so the water has nowhere to go. The same thing was happening in my brain.

After college, I moved to Maryland to work for Make-A-Wish. I wanted to make a difference for children with challenging medical journeys, while I was going through my own. People asked how I would live by myself and work full-time. In my head, I thought, “I don’t know.” But I knew I was stronger; I knew the sun would rise each and every day, and I would try again.

In 2018, I began working at The Children’s Inn at NIH, a nonprofit organization that provides a free ‘place like home’ for children and young adults who are participating in clinical research studies at the National Institutes of Health. Many of these patients are part of the rare disease community. I have found my own comfort in this community. In fact, NIH Rare Disease Day is my favorite day of the year. Patients, advocates and researchers gather together to talk about one thing: rare diseases.

According to the National Organization for Rare Disorders, more than 90% of rare diseases don’t have an FDA-approved medication or treatment. The medication I use was developed to treat high altitude sickness, not elevated levels of spinal fluid. Imagine taking a medication that is used for other conditions and that may possibly help you. My medicine makes my feet burn, alters the taste of food, makes my eyes and head tingle or go numb, and causes brain fog. I take it because it prevents me from possibly waking up blind one day. I take it because it is what we have … for now.

From working at The Children’s Inn at NIH, I know researchers are doing amazing work to find treatments and cures for many of the more than 7,000 rare diseases and those diagnosed with them. While I still have many unanswered questions, I’m now more optimistic than ever. I understand that science takes time, that pain is temporary and hope is eternal.

To learn more about The Children’s Inn’s mission and how you can help children and young adults with rare diseases whose best hope is an NIH clinical research study, please go here.

Stephanie Feinberg is the Resident Services Operations Manager of The Children’s Inn at NIH.

A Place Like Home for children, young adults, and their families seeking their best hope for a cure at the National Institutes of Health