What illness do you have exactly?
Cartilage Hair Hypoplasia with an immune deficiency.
When did you or your parents become aware of the symptoms?
It was very clear that I had a rare disease at a young age. I was 2 years old, when my growth rate was less than that of my peers. Though I was diagnosed quite young, the immune deficiency symptoms only appeared during my teenage years.
How long did it take to get a precise diagnosis? And how many doctors did you see?
Given this, I had the diagnosis for my whole life. Managing the symptoms was a greater challenge, however. During my teenage years I began getting pneumonia repeatedly. It was fairly obvious that it was the immune deficiency of cartilage hair hypoplasia manifesting itself. Still, it took about three years of testing different treatments to get the symptom under control.
How did you and your family experience the search for a diagnosis? What was difficult or stressful?
I can only imagine that it was stressful for my parents. As a young child, I think I just didn’t understand why I needed to go to the doctor so often. As a teenager, when the symptoms of immune deficiency started, I was so constantly sick, exhausted, and alienated that I was not able to take any control or initiative in my life and I completely relied on my parents to help me figure out treatment.
Did you sometimes have the feeling that you were not taken seriously enough during the clarification process?
People see my short stature, but it is not so severe that I obviously have a form of dwarfism. My immune condition is completely unseen—especially since I am vulnerable to opportunistic infections that others with normal immune systems would never need to face. I would say that my disease is effectively invisible, and when I describe it, the symptoms are difficult to empathize with because they can seem vague and unrelated.
What did it mean to finally get a diagnosis?
It was a relief to be able to receive treatment that worked and allowed me to live a more normal life.
Were there any difficulties with the health insurance company after the diagnosis in order to obtain medication or therapy?
Yes, but my experience with health insurance was in the US, so it may not be so applicable. In my case, there were often instances where I would be switched at short notice without a choice to another similar medicine with no chance to appeal. Switching jobs also meant switching insurance and medicines as well, which was equally stressful. One of the things that surprised me when I moved to Switzerland, was that my immunologist here realized that I did not need to be taking a very expensive and cumbersome-to-administer injectable medication. In the US, if your doctor decides to take you off an expensive medication, they risk having your health insurance provider not cover said medication should you need to be prescribed again. I may actually have been overmedicated and spend tens of thousands of dollars more on treatment than was necessary.
What does your illness mean for you in your everyday life today?
I think that it has made me very conscious about my health. Putting myself in situations where I’m not introducing additional risk is a priority and can be difficult for others to understand.
How do your family/friends deal with it?
I think that now I have the symptoms under control, they seem to think that I am cured. I think that this external impression others have of it being completely fixed is misguided, but on the whole I feel very lucky that I can live without my rare disease always being front and center.