By Yoni Maisel
It’s the catch-22 of rare diseases: By their very nature, these disorders that are so badly in need of treatment are so darned hard to detect. Consult any rare disease organization from the National Organization of Rare Disorders to EURODIS (Rare Diseases Europe) and the National Institutes of Health, and you will see a very disheartening statistic: The time it typically takes from the onset of a rare disease until actual diagnosis takes place averages seven to 10 years.
The typical rare disease patient usually passes through the hands of many physicians and specialists before a proactive and “out-of-the-box” thinker finally says to him or herself: “Something is really wrong here; perhaps deeper investigation is required.” It is the nature of the beast with disorders and diseases that affect only one patient out of every 50,000, 250,000 or even a million individuals. Not every doctor knows about them, not every med-school lecture has mentioned them, and not every medical database even contains them.
That seven- to 10-year delay in diagnosis? I have spoken to many patients who have experienced it. From those with common variable immunodeficiency (CVID) and other primary immunodeficiency disorders, to those with muscular dystrophy, multiple sclerosis, Behçet disease, Lynch syndrome and other myriad of extremely rare disorders with extremely unusual names. One shared commonality of those with these conditions is that painful word that they have heard from others leading up to diagnosis: hypochondriac.
Whether chronic pain, frequent unexplained illnesses, trouble with motor coordination, sick days from work and beyond - every pre-diagnosed rare disease patient remembers the doubts of others: “Perhaps it’s all just in your head?”
In 2005, I was diagnosed with CVID. In retrospect, according to my immunologists, the disease went undiagnosed for at least a decade prior. During that time, I had one girlfriend in particular who developed what she thought was a pretty cute nickname for me: “hypo” - obviously short for hypochondriac. Whether with repeated pneumonia, high fevers or during any other in a series of endless illnesses, I would hear her utter that horrible word. So much so that I, myself, began to wonder if it was all in my head. From those at work, to friends and even a family member, doubts ranged from exaggeration to downright faking.
It’s part of the reason why so many who are finally diagnosed with a rare disease breathe a sigh of relief at the time of diagnosis; it is validation that something quite wrong was the matter the entire time. It’s not a case of saying to others “Nah-nah, I was right and you were wrong!” Rather, it’s a sigh of relief that “all that I have been going through was not just in my head! It was real.”
And that sigh of relief? It’s universally accompanied by an intense feeling of gratitude toward that special doctor or doctors who finally connected the pieces of the puzzle and solved the mystery of what has been ailing you.