Andrew from Oregon
In June 2020 – a bit more than 19 years after my diagnosis – it finally struck me to google “network for people with homocystinuria.” Within a day, I was in the Facebook group; within a week, I joined one of the Sunday calls. And when it was my turn to introduce myself, I cried. I realized I had never met anyone else with homocystinuria, and the profound feeling of sudden connection with strangers moved me quite deeply.
In 1987, when I was 11, my mother noticed that I was crouching up very close to the posters at the science fair, and so she took me to her ophthalmologist. Sure enough, like her, I needed glasses. Over the next four years, my vision deteriorated rapidly, and soon enough my glasses were like coke bottles. At summer camp, friends would put on my glasses to pretend like they were drunk (none of us had been drunk yet – but it was how we imagined it). In 1991, when I was nearly 15, I had another check up with my ophthalmologist, and this time he felt that there must be something wrong. My vision had again gotten much worse, very fast, so he recommended we see a doctor at Walter Reed Medical Center. This doctor looked in my eyes, saw the ectopia lentis, and said to my parents, “would you like to see how far his lenses have slipped? You could probably see it from across the room.” He then looked at my mother – who is 5’2” – and my father – who is 5’9” – and me – I am almost 6’4” – and said, “OK, it’s either Marfan’s or Homocystinuria. Let’s get you over to NIH to see which.”
At NIH, I saw Dr. Sandra Levin. Over the course of the spring of 1991, we made many, many trips to NIH. Typically, when I had my eyes examined, there would be a line of doctors waiting down the hallway to have their chance to look in my eyes. Once there was a team of doctors from China who took their turn. Another time they asked me if I minded answering some questions from more doctors. I said, “sure,” in a classically 14-year-old way. They led me through a door to where I found myself on a stage looking out into a room of maybe 20-30 doctors, who then asked us lots of questions. (I think my mom or the doctor with us probably answered most). During this time, I also remember having a full body MRI and thinking it was kind of cool and space-age. The hardest thing about it all for me – aside from the blinding light when they took photographs of my eyes – was that I had to stop playing soccer, given the fear of contact dislocating my lenses.
I was diagnosed with HCU. Being B-6 responsive, and generally having a mild case, I believe has afforded me a relatively healthy life. I played Division 3 college tennis – the height helps. I have earned two M.A.s and a Ph.D. I have climbed 19,000 ft mountains in Nepal, lived internationally in China, India, Bosnia and Herzegovina, and Colombia, and traveled to many, many more countries. At one point, maybe in my 20s, my mother asked me if I would trade my height for having homocystinuria, and at the time I thought, “wow…tough one actually.”
At the same time, now in my mid-40s, sometimes I feel like a Great Dane, like my body is stretched out, longer than it should be. I have had surgery on my left ankle, right knee (two surgeries), and right shoulder, and now am dealing with severe pain as a result of lumbar scoliosis. I sometimes think my body shouldn’t feel like this at 45.
But this is also the body I was given, with all its “imperfections,” and I have no other option but to live into it, to maximize its potential for health, to live for my 17-month-old son. Sometime in my mid-30s I think I finally matured into recognizing that I needed to truly take care of my homocystinuria. I had, before then, sometimes let the medication regime slip here and there, but from then I have been quite consistent, day and night, with the 8 little pills I take that rebalance my body chemistry to maximize my quality of life.
I am so grateful to those who participated in the early studies, to the medical professionals who investigated homocystinuria, and now to the HCU network for creating this community.