Sometimes life really takes you by surprise. There’s the good stuff and the bad stuff…and then there’s those moments that, in an instance, make the path ahead very challenging. Being immersed in parenthood is probably one of the most incredible challenges we can both simultaneously endure and enjoy. My wife, Victoria, and I feel incredibly blessed to share our lives with two wonderful boys. But a couple of months ago some blood tests for Julian and Desmond came back and, in an instance, that rosy path ahead became one with concern, questions, and uncertainty.
Both of our boys have a genetic liver disorder called Alpha-1 Antitrypsin Deficiency. It’s passed on from parents to their children through genes. I have a mutant gene (likely from my father) and Victoria has one, too. Because both of us have a MZ genotype it means that any child we have has a chance of getting 1 of 3 possible genotypes: MM (healthy), MZ (carrier, like us, likely with no symptoms), or ZZ (Alpha-1). Julian and Desmond are both ZZ and had a 25% chance of getting this gene combination.
Alpha-1 Antitrypsin is a enzyme in the liver that gets released into the bloodstream and protects the lungs. However, people with the Alpha-1 disorder cannot fully get the enzyme into the bloodstream….leaving the lungs vulnerable to emphysema at an early age. And because the enzyme gets trapped in the liver it scars the liver leaving it prone to cirrhosis. So, it’s a bit of a double-whammy. Transplants are a real possibility. There’s no medicine or cure for Alpha-1 and it’s not reversible (yet!). It’s just something you have to…deal with, I guess. We’ve been seeing specialists and also do our own independent research. Keeping their livers healthy is one of the proactive things we’re doing. Having them stay away from alcohol and smoking is easy now…but they’re going to have to make some adult decisions when peer pressure hits sometime in their teenage years. All we can do is help them make smart decisions now.
So, all of this is really new to us….and really to most of the world. Alpha-1 wasn’t really recognized until sometime in the 90s. We’re also finding that a lot of doctors still haven’t heard of Alpha-1 Antitrypsin (including their pediatrician..who we’ve subsequently stopped visiting).
We’re now involved in the Alpha-1 community and November is Alpha-1 Awareness month. This Saturday we’re doing a fundraising walk in Santa Monica and we’ll be able to meet families that are on the same challenging path as us. I’m confident that our boys will lead long healthy lives…but I’d be lying if I said I haven’t had a few sleepless nights.
Thanks for reading and sharing…and if you’re able please make a donation on my fundraising page. All money goes directly to to the Alpha-1 Foundation who are on a mission to find a cure. PLEASE DONATE HERE: