At the start of the year, I promised myself I’d write ‘a blog a month’…I started January 1st and it's the last day of February, so I barely made it! It works out well though, because today is Rare Disease Day – not necessarily a day to celebrate, but definitely a day to spread awareness.
Most of you know the story of my Jack and his ever-challenging life with Phenylketonuria, PKU. I won’t tell the whole story again, but here are the bullets: PKU is a genetic disease caused by two defective recessive genes on the 23rd chromosome. It’s a metabolic disease of the liver – Jacks body cannot metabolize one of the essential amino acids in the protein molecule, and because of that, he eats a severely restricted diet, almost void of animal protein. He’s not ‘vegan’. He doesn’t eat animal products (meat, eggs, cheese, milk, fish, poultry...etc), but he also doesn’t eat grains, seeds, beans, soy and higher protein veggies (like peas, broccoli, and asparagus). In addition, he cannot eat most store-bought breads, pasta, pastries, cereals…you get the idea. There is no cure for PKU, or for hundreds of other rare diseases. Jack is healthy because he drinks a medical formula that keeps his metabolic system balanced. Kansas does not require insurance to pay for metabolic formula, even though without it affected people would be significantly developmentally delayed, to the point of possible system failures and even death. Of course, it can cost thousands of dollars monthly.
Even so, on this day to spread awareness of rare disease, we can celebrate the lives of extraordinary kids, the sisterhood of parenting them, and the appreciation for medical professionals who love them like we do. We sleep at night knowing that science is working to save our children, and our children are working to stay healthy until that happens. We celebrate the bond of knowing just how hard it is to appeal insurance (again), to get a good finger stick on the first attempt, and to find a new low-protein food that actually tastes decent. We share the excitement of finding a gram scale on sale, scoring a new mixing container that fits easily in a cooler, and learning tips for a successful sleepover. We feel blessed to know that we are not alone. We love it when people ask us questions. We genuinely understand that “kids are kids” no matter what size, shape, color, religion, economic status, education, or disease.
Go hug a kid today.