My Experience Getting Tested for the ALD Gene

When I was 14, I was worried about my boyfriend of 2 weeks noticing the pimple on my forehead. I was worried about my parents being mad if I missed curfew, and about what outfit I should wear to the next football game. All normal, naive worries. To be fair, I do come from a special family, and sometimes I was also worried that my family vacations would be canceled last-minute, and that instead I’d spend them making visits to the hospital, or that my mom wouldn’t show up to drive my friends and I to lacrosse practice because of some last minute complications with my brother.

My older brother, Jack, has the cerebral form of Adrenoleukodystrophy (ALD). In 2007, when he was 8 and I was 7, he was diagnosed and spent 100 days in the hospital receiving a bone marrow transplant. He was just a shot of medicine or an IV bag of fluids away from losing his battle at any given time. In the process, he lost a lot— he was left non-verbal, incontinent, and unable to live or complete any tasks independently. But he survived, so my family moved on from the experience stronger and much luckier than many other ALD families—well, we moved on as much as we could.

As you can imagine, Jack’s complications have been at the center of our family dynamic ever since that diagnosis. In our happy family of four, Jack was always the “complicated” one. Thats why when I was 14 and my mom said I was going in to the city to see a geneticist about screening myself for ALD, I didn’t see the relevance. My whole life, ALD was the disease that my brother had. It was the disease that only impacts boys, that is passed “silently” from mother to son. It was the disease that I didn’t have to worry about, past its impact on my brother. That’s what we had always been taught.

But years after Jack’s transplant, my mom’s reality changed as research advanced and word finally spread of the potential impact of ALD on female carriers. Complications of the bladder, balance, and motor skills, sometimes going as far as binding carriers to wheelchairs by middle-age. While my mom, a carrier, dealt with the reality that these complications could be a part of her future, she also had to deal with the process of getting me diagnosed to see if I, and any of my future children, shared these risks.

For her, I’m sure this was a terrible time and a horrifying trip to the city. For 14-year-old naive me, it was a nice excuse to miss a day of class. The information that the genetic counselor gave me was all about my future reproductive options should the test come back positive. I don’t recall any mention of what health complications I might face as a female with the mutation— only how to avoid having affected sons. None of it meant much to me, nor did the news that we received two weeks later that I was in fact not a carrier of the ALD mutation. 14-year-old me was on to the next minor inconvenience to worry about, not understanding at all how lucky I am.

Now I understand. I understand the privilege of not having to personally deal with the risks of carrier-hood, or the arguments with uninformed doctors that my issues could really be related to my x-linked carrier status. I don’t have to spend thousands of dollars on reproductive assistance to avoid having sons affected with ALD, or make the difficult decisions regarding how to go about having those kids. There was so much significance in the news that I received weeks after my mother-daughter visit to the geneticist. I’m unsure if I’m thankful to have gone through that process so young and naively. It’s hard to know how things would’ve turned out had I received a different diagnosis or gone through the process later when I was more mature. But I am certain that the news I received at 14 means the world to me today, and has taught me to appreciate the challenges of those women less lucky than me, and to advocate for their largely misunderstood, underrepresented cause.