Two years ago, we went to our family friend’s vacation house. Dad and the kids decided to go swimming in the lake, even though we knew it was kind of gross and dirty. Hey, it was hot, and lakes are a ton of kid-friendly fun! We are the kind of parents that like to go on the rollercoasters, dig in the dirt, or maybe even go jump in that dirty lake. Well, hindsight is 20/20 (this is a funny pun and you’ll see why soon!) The little bits of whatever-it-was in this yucky lake got in Dad’s eyes and somehow scratched both of his corneas. He woke up the next morning with tons of pain, swelling, and redness in his eyes. This was a big dampener on our get-up-and-go lifestyle! No problem though, we thought. Both of us just assumed that the redness and the pain were going to end as quickly as they started, and a simple trip for some eye drops at the ophthalmologist would end of the trauma that came with this injury. It turned out that the pressure and redness in both of his eyes refused to subside, even after the cornea scratches were treated. This was only the beginning.
Soon after the corneas were treated with drops, two different ophthalmologists noticed that the problem here wasn’t just the scratched corneas. Instead, they went onto to manage the lingering symptoms of uveitis or inflammation of the uvea, which is the pigmented layer of the eye and includes the iris. Thank goodness they took charge; we were totally freaked out and knew something was very wrong when the shape of Dad’s pupil turned from circular to star-shaped or oblong. The addition of steroid drops to his healing regimen helped subside the swelling a little, but in the meantime, the ophthalmologists decided to do a full blood panel to exclude other origins of this uveitis.
The results came back pretty quickly. (Unlike the steroid regimen which took several weeks to taper off the treatment, and he had to do the tapering three separate times. Think months.) He was clear on all aspects of the panel like Lyme, Hep A-B-C, IgGs, IgMs, etc. except for a test called HLA-B27. After a lot of research, we discovered that HLA-B27 is a gene for Human Leukocyte Antigen, a complex that has a lot of genetic variation to fine-tune the immune system to detect any type of invasion. If the protein complexes made by HLA-B27 (called Major Histocompatibility Complexes) that display on someone’s white blood cells are a particular variant of the original type, it can confuse the body’s immune system into attacking healthy cells, therefore predisposing someone greatly to a variety of autoimmune diseases called spondyloarthropathies. Spondyloarthropathies encompass a variety of autoimmune diseases which include ankylosing spondylitis, irritable bowel disease, reactive arthritis, and rheumatoid arthritis, among others.
This genetic variant explained why a scratch on Dad’s cornea attracted a crazy immune response to his eyes (aka major swelling, redness, etc.), and explained even more why it was so hard to get it to go away. His immune system was overreacting to an infection from the scratched cornea and probably ended up continuing to attack its own healthy cells. Uveitis is a common symptom of the spondyloarthropathy disease class.
Suddenly, after putting together the information about HLA-B27 and his eyes, a whole host of other symptoms he’d been dealing with for many years of his life began to make total sense. Debilitating neck pain during periods of stress, stiffness and pain in the morning, and complete and utter digestive distress more often than not. These all seemed like the symptoms of this class of disease.
The idea that these symptoms which, though mild, had been interrupting our family by messing with Dad’s health was just unacceptable to us. We imagined the light at the end of the tunnel where he could feel great waking up in the morning, not be light sensitive, and most importantly, feel digestively regular enough to get up and moving with us! What we needed next was a diagnosis so we could move forward.
To Be Continued.