My rare disease diagnostic journey was, in some ways, like many others. In other ways, it was very unique.
My father was the first in our family line to be diagnosed with Fabry disease. During a routine employment physical, his family doctor discovered that my dad was spilling protein in his urine. His young doctor, fresh out of residency, was determined to find out why. This was back in 1984 when even the leading experts in lysosomal diseases were unclear about many aspects of Fabry.
As a teenager, during those early days, I have a vivid memory of sitting at a table at a large hospital in the city speaking with a physician and genetic counselor. They explained what a diagnosis meant for my father, my 3 sisters, and me. The most critical complications of the disease were kidney failure, increased risk of stroke, and cardiac problems in males. They reassured us that, as females, we would never suffer any physical manifestations.
Even though we were only seen as carriers, that genetic counselor told us that we should strongly consider NOT having children. If we did, in fact, get pregnant, we should consider termination. My teenage dreams of being a mom and having a large family were crushed in an instant. I was only 14 at the time.
Regardless of being classified as a “symptomless” carrier, I began experiencing problems that continuously impacted my daily life. At that time, I didn’t know what it was—after all, it couldn’t be Fabry; the leading experts at that time had told me it wasn’t. I had severe pain in my hands and feet, cold and heat intolerance, headaches, embarrassing and debilitating gastrointestinal symptoms, and joint pain. Doctors told me it was due to growing pains, hormone changes, or even said it was “all in my head.”
For many years, well into adulthood, there was no validation to my pain or suffering. There was even a time when a prominent neurologist in a teaching hospital called a psych consult for me because he believed I fabricated the symptoms of a TIA [transient ischemic attack]. He stated that women could not be affected and that Fabry was a “pediatric disorder.”
Now, it’s finally understood that men and women can be affected by Fabry disease in the same way—that women absolutely could experience clinical manifestations. Finally, a name was attached to what I was going through. I, along with countless other women, have real validation.
I’m one of the lucky ones. I have a diagnosis. There are approved treatments to help slow the progression of Fabry disease. More research is being done every day.
For decades, societal norms have told us to put our full trust in our healthcare providers, never questioning what they say. They have years of training, after all, and we’re just patients, right? Thankfully, times are changing. “Patient engagement” and “patient centricity” are becoming less and less “buzz words” and more and more true action steps. Researchers and clinicians are listening to the patients, and in turn, understanding diseases such as Fabry more fully and more clearly.
I have hope for the future. Collaboration and mutual respect among researchers, healthcare providers, and the patients is starting to happen. With collaboration and respect between researchers, providers, and patients, anything is possible.
- Blog written by Sabina Kineen