I have a lot of love and passion for the rare disease community every day, but especially on days like today, since we went to my daughter’s genetics and metabolism clinic st UNC. Annabelle is 19 months old exactly today and she has PKU. A brief description on PKU for you: PKU is an rare, inherited metabolic disorder in which the body cannot properly use the amino acid, phenylalanine (Phe), due to a deficiency the enzyme that breaks it down. It is in essentially every food, but high in protein-rich foods, thus the more common but scientifically not quire accurate way to explain it- “she can’t break down protein.” There are a bunch of not so good things that can happen if untreated, BUT, thankfully newborn screening exists and it was diagnosed shortly after birth. Thank you modern medicine!
If you are a parent, you know how all-consuming your love for your child is. You do everything in your power to keep them happy, healthy, fed, well rested, and clean and in clothes that fit reasonably well and are seasonally appropriate. I say that last bit with a bit of dry humor because as fast as mine has grown at some points- I marvel at how we accomplished it. Annabelle has a big appetite and gobbles up all sorts of low protein food- her medical formula, fruit, veggies, low protein pasta/ bread, vegan eggs and cheese, coconut yogurt, jackfruit and other fun things we’ve learned to cook and bake for her.
It definitely isn’t easy. Always counting, measuring, recording, packing food for her. Lots of pre-planning menus and ensuring we can keep her formula cold until consumed and that she never misses it. But it doesn’t matter if it’s hard or easy. It’s a necessity. And it’s my job and one I consider the best in the world. As I do the day in and day out tasks, it’s easy to take it for granted. But we DO have a way to manage it. Sure there is no cure, but there is management. “Diet for life” is the slogan.
Why run? What I hope is that research and science brings hope to the tougher conditions to manage. Or the unmanageable ones. The ones that have the scary outcomes. Those ones are the ones that need support. They need awareness. They need relentless parents pushing for more for their children. And I get it- not everyone has the strength or time to fight. I want to fight for them. This race will be the start of my fight. The start of me pushing for more so that someone else’s condition can be improved, treated or cured. Today marks the 1 month until my 13.1 miles in Providence, RI. I will be “Running for Rare” and our team is fundraising for the National Institute on Rare Diseases (NORD) and the Undiagnosed Diseases Network (UDN) Patient Assistance Program.
Thank you for taking the time to read this. All it takes is one person’s support and awareness at a time. Catch my next blog on a look at my training.