Help us raise money

Around the time my father turned 30 years old, he started acting differently. He was a construction foreman with a wife and three young daughters. He had a soft spot for us girls, and absolutely adored animals. This wasn’t a great combination for our mother, who didn’t need yet another living thing at home to take care of —- he would find stray kittens around construction sites and bring them home to our smiling, eager faces, happy to greet him, hopeful to see a fluffy bundle in his arms. The one thing I remember most about my father was how much he loved his girls.

So when he started making unusual choices in his early 30s, it caused distress and confusion amongst those closest to him. But when he began to have difficulties with walking and balance, alarm bells started going off. Something wasn’t lining up. He sought input from his primary care physician and neuro specialists alike without receiving any answers.

As his condition worsened family members noticed something familiar. This pattern — a degeneration of demeanor and physical body — seemed to be suspiciously reminiscent of younger cousins who had passed away in childhood. Those young boys who lost physical abilities and cognitive function. Could he be afflicted with the same awful condition, and would he be subjected to that same fate of an early death in a vegetative state?

After receiving a diagnosis of adrenoleukodystrophy (ALD), it came to light that yes, this was, in fact, the same disease that robbed my father’s aunts of their sons who were just little boys. There had been medical advancements between the 1970s and 1990s, and there was cautious optimism that a bone marrow transplant could halt the disease progression. Perhaps he wasn’t destined to suffer the same fate as his boyhood cousins.

Unfortunately, my father’s disease had progressed too far, and the messenger cells inside of his brain were too broken down to continue telling his body what to do. The disease had progressed too far, and he would not benefit from the transplant. Instead, words like “palliative care” were used, and decisions were made for new living arrangements. He passed away about five weeks before he saw 35.

I was 8 when we laid my father down in his final resting place. I’m not certain when my sisters and I were made aware, but we learned very young that we are X-linked carriers for this disease. We learned that as females, we have two X chromosomes, one of which carries this specific disease. That we would need to be very careful when planning our future families because there is a 50% chance of passing along those “bad Xs” to our children. If we did pass along one of these bad Xs, one with the ALD gene, to a baby boy, then we may be subjected to seeing our sons die in the same way our father did.

Fast forward to 2016. I was pregnant with my first child, a little boy. After several grueling, early weeks of constant worry and anxiety, we learned through prenatal genetic testing that our son had received my good X, and was not affected with this terrible disease! The knowledge of my carrier status gave me the power to seek out prenatal testing. Those provided us with a sense of power and control over our lives through such a scary situation. Spreading the word and early intervention are life-saving measures for these boys.

One early morning, roughly halfway through my pregnancy with my son, I was driving to work. I had just gotten in my car, and was scanning the radio when I heard someone mention ALD. I immediately stopped and listened. It was Julie Purschke, sharing about her son, Nicholas, and how the bone marrow transplant had worked for him! She was promoting a 5K right here in St. Louis to raise awareness and funds. This felt serendipitous. I had just recently learned I was carrying a healthy baby boy, and now I was learning about someone in close proximity to me with this same affliction. I felt compelled to join in the cause.

Last year, I saw boys from my son’s school running at the race for this rare, seemingly obscure disease. Surely this cannot be another coincidence. I grew up feeling isolated; I’ve never even spoken to a doctor who knows about ALD, and now in adulthood someone in my city was promoting a run for it, and boys from our community were participating?! The universe must be calling me to take action to spread the word. Bringing awareness has such power — it’s helping to fuel the medical advancements that helped Nicholas, and has made ALD screenings standard for all newborns in Missouri.

I’m sharing our family’s story so you’ll consider running (or walking!) with us on November 18. The race takes place at Creve Coeur Lake, right along the water. It’s usually brisk in mid-November, which any runner will tell you is great weather to get those legs moving. It really makes for a beautiful morning spent raising awareness for a great cause. If you’re unable to make the race, please consider a donation toward the medical advancements. Thank you so much, and I hope to see you in November!