Rare Disease Day was created to bring light to the thousands of crazy, weird, impossible diseases that affect our kids and our big people. Its noted date is February 28th, or 29th in the event of a leap year.
My particular platform, on Rare Disease Day, is Peutz Jeghers Syndrome.
It doesn’t even sound real, right? It sounds like something a soap opera character might contract in a Mystical Tropical Location, battle bravely for two seasons (enough time to collect an award or two and provide the show’s composer with lots of dramatic, swelling violin concerto opportunities), and then miraculously recover.
Yeah. It’s not made up. It’s some real, motherfucking, cocksucking bullshit.
PJS (as we in the rare disease biz call it) is a simple and also complicated asshole. Its afflicted are prone to the development of fissures in the colon and polyps throughout the gastrointestinal tract. The polyps contribute to: severe anemia and other vitamin/mineral deficiencies; ongoing bouts of excessive diarrhea with accompanying dehydration; tearing and ripping of intestinal tissue; food allergies; infection; intussusception (where one part of the intestinal tract folds itself into or around another part of the intestinal tract); rectal and internal bleeding.
All of that bullshit contributes to the highly increased occurrences of fast-advancing, often-untreatable cancer.
Guess why PJS is my platform. My daughter has PJS. Her daddy, my late partner, also had PJS and died from cancer at the age of 48. His dad, sister, and brother also had PJS and all of them died from cancer before they were 50.
My little love developed the telltale freckling on her lips at the age of two, right around the time her dad was being moved into hospice care. She’s recently turned five and has not developed any other symptoms (knock wood). She is exceptionally healthy and robust.
Just today, she woke up from a nap with a 103 degree fever and crying that her tummy hurt. Then, she threw up three times.
To many parents, this is potentially a flu and a few days resting at home.
To me, this is potentially a trip to the ER with emergency gastrointestinal surgery and a six week recovery. This is not dramatics. This is our reality.
Some mock me for my insistence upon an organic, non-processed, whole food, limited sugar, and high fiber diet for my child. They think I’m snobby and sanctimonious. Go fuck yourself if you choose not to understand why I’m more than a little overzealous about what she eats: it’s my only line of defense against the gene in her DNA that wants to harm her. That gene, STK11, wants to take her away from me.
Not on my watch, bitch. I’ll fight you with everything I have, until my dying day.
For now, she’s watching Despicable Me with a cold washcloth on her forehead, a cup of cold apple juice, and a dose of children’s Advil. She’ll doze off soon. And I’ll be up, keeping watch through the night.