Yesterday was Rare Disease Day. Here is an infograph:
My son has PKU, which is considered a rare genetic metabolic disorder. He will have to adhere to a strict low protein diet to avoid the protein phenylalanine. His body does not properly break down phenylalanine (aka PHE), which will build up and cause permanent mental difficulties, neurological damage, seizures, and behavior issues. Staying on diet is vital to his health and wellbeing. In order to achieve that, he will reply on a special medical formula and medical foods, then supplement that with fruits and certain vegetables. There is no cure. There is one drug that has help the body process some PHE; however, it depends of the gene mutation. Even that doesn’t guarantee the drug will work.
The purpose of Rare Disease Day is to bring awareness to individuals living with a rare disease, to find a cure, and to raise funds for more research. My son looks like a normal healthy kid. At almost 6 months old, he weighs 20 pounds and is over 27 inches long. He is a big boy! But as he continues to grow and becomes a “growing teen boy” known to eat all of your food…he will not. He will go hungry once he reaches his PHE level allotment for the day. He will measure and record everything he eats and drinks. PKU is his rare disease. This is why we care about Rare Disease Day. We hope for a cure. And we hope for people to understand and be courteous to “different”.
So, yesterday, was a hard reminder for me about my rare little man. Knowing I will always have to inform and educate people about PKU. Even after explaining PKU, many people still do not understand the realm of PKU. I am told many times, “Oh, well, at least he will have to be healthy.” And I want to slap them. Really, I do. I simply say, “Yeah, I guess, if you consider denying your hungry child food to keep them alive is healthy. Or constantly worrying someone is going to give them unapproved food healthy.”
Yesterday wasn’t the only difficult day for us. Monday, Hubby left for a business trip for the entire week. I also had to take SP to the pediatrician’s office. Over a week ago, she had a play date over at a friend’s house. Those friends had invited another friend over too that we didn’t know. A little boy about the same age as SP. Long story short, the boy threw an obstacle course cone at SP, hitting her in the eye. As she was trying to get away and come inside to me, he threw a soccer ball; hitting her in the chin. As I was checking out her chin, I noticed her eye was red, watery, and forming a knot like bump on the eyelid. That’s when she told me about the cone. He admitted to doing it all. Well, after a week, the knot wasn’t getting better. Now, I have to put an eye ointment on her eyelid twice a day for an eye infection and eyelid swelling. Needless to say, we will not be playing with that child again unless I am watching the entire time. So, SP could use your thoughts and prayers too.
Of course, when I could use a therapy session the most; mine gets cancelled. The next availability it the week before my next appointment at the end of March. It is already difficult enough dealing with a mental disorder; but having the healthcare provider be unavailable and cancel appointment on a whim isn’t helpful either. I won’t even mention the disaster of trying to fit these appointments into an already stretched schedule and dealing with finicky insurance policies. Sadly it never surprises me when I hear of someone losing their life to a mental illness like PPD or any form of anxiety/depression. You already feel alone and desperate; then you struggle to find help. Again, it is so important to be vocal and aware of different struggles that others’ go through. You never know when you give someone that bit of hope to carry on.