Being a healthy 20-something is not my story. I have a rare disease and personally experienced the difficult process of obtaining a diagnosis. Today, I am empowered to speak up about my disease but it’s been a journey to discover my rare strength.
Just four years ago, I was diagnosed with Kienböck's disease, also known as avascular necrosis (AVN) of the lunate. The lunate is one of the eight small bones in the wrist. In this condition, the lunate loses its blood supply, leading to death of the bone. This bone is very important because it works closely with the two forearm bones, the radius and ulna, to help the wrist move.
These feelings of loss, grief, uncertainty, and pain have changed the way I see everything; most of all, the way I see other people who suffer from rare diseases. It’s now very personal.
Early diagnosis is crucial to minimize the damage this condition can do. While treatment can halt the damage, it doesn’t necessarily heal what’s been done. The cause of Kienböck's disease is unknown and it affects less than 200,000 people in the U.S., typically men between the age of 20 and 40.
I didn’t necessarily fit the profile. I was very active, hiking outdoors, climbing, and doing a lot of activities that required both hands. I worked in a bakery and later a nursery, and I was studying research science. I did so much, and like most 20-somethings, just felt invincible.
All of this changed when my wrist felt like I had a sprain that suddenly grew into immense pain. Very quickly, my pain went from occurring only with use to almost constant. In no time, I went from ableness and strength to weakness and powerlessness. It was shocking and alarming.
The progression was happening so fast, yet diagnosis was moving slowly. Once finally diagnosed, I was already in 3 out of 4 stages of progression. I lost blood flow to the lunate and that wrist bone started dying. It took approximately eight months from onset to treatment. The delay in diagnosing this rare disease was time wasted at a crucial period that could have made all the difference to my health outcome. My doctor scheduled surgery immediately.
Recovery from surgery was painful. I lost my job because it required use of my arm. I had a lot of trouble asking for help with things I could no longer do myself. In an ideal surgery and care plan, you recover and get better. Today, the progression of my disease is halted for the time being, but the use of my left hand is limited. I am learning to accept there is no getting better, only no more worsening of the pain.
Nothing prepared me for the grief of what was taken away so quickly. Some of my friends can’t relate to or understand the effects this disease has on my activity and the impact it’s had on my quality of life. I can’t work out, do household tasks, or participate in most sports normally anymore. I pride myself on being an independent, strong and self-sufficient woman, but now I can’t even open a jar by myself. It’s had a significant impact on my pride, identity and self-worth.
I am also growing stronger from this experience in new ways. These feelings of loss, grief, uncertainty, and pain have changed the way I see everything; most of all, the way I see other people who suffer from rare diseases. It’s now very personal. When you, or someone you love, goes from good health to such deterioration without answers and support, it can be a harrowing experience. I’ve learned to rethink what strength really is, and to not base my identity on what I can or can’t do physically, but rather on the ways I can help others through my knowledge and personal experience.
At Sobi, I also discovered my colleagues were a great support system to me. Our mission is to make care possible for all people living with rare and severe diseases. We come together and share our stories, helping each other find strength. I know the more information our sales representatives have, for example, the better we can educate physicians and help them identify symptoms faster. We can help the care team better connect the dots toward improved therapeutic solutions.
I am thankful to be in a position to help further awareness, education and to help our patients have a better quality of life. At Sobi, we bring something unique to the fight against rare diseases – a rare strength that allows us to be a partner in care for those with high unmet needs. I have found my purpose and have a new direction in life and I’m very happy with that. This is incredibly empowering.