Where do I begin?
I’m Jessica, the mom to three extraordinary, sweet little boys that have taught me to keep on smiling despite the hard times, to laugh when a block tower falls over, to yell yeehaw when you see a horse, and that it’s okay to cry when you’re scared.
Our story begins when our oldest, Wyatt, was 6 months old. I knew there was something different about him. I couldn’t quite put my finger on it but I knew there was something. Call it mothers intuition. Fast forward 2.5 years, hundreds of pokes for bloodwork tests, multiple car rides into the city for Stollery appointments and overnight stays, and being bounced around from specialist to specialist. No one could figure out what was causing him his extra challenges. The geneticist called to to say a screening came back positive for a genetic disorder that they would follow through with but suspected it was a false positive as this disorder ‘just doesn’t happen’. A week later we were given a diagnosis: Purine Nucleoside Phosphorylase deficiency or PNP deficiency.
You would think it would be absolutely devastating to have a diagnosis. But you know what? It wasn’t. It was bittersweet. I was sad that my Wyatt had this disorder but I was also happy that we finally had an answer and knew how to help him. Well sort of. The thing is, with these rare disorders, there is not a lot of information out there about them. The doctors don’t know much and we get a lot of ‘We think this will work based on research but we don’t know entirely as there just isn’t the documentation about it’. We’re little research guinea pigs.
PNP deficiency exhibits itself with an immunodeficiency called Severe Combined Immunodeficiency (SCID) also known as the bubble boy disease as well as with neurological damage causing severe developmental delays. Treatment for it is a bone marrow transplant. The transplant will cure the SCID but the doctors don’t really know how it will affect the neurological damage.
While this was going on we welcomed two more bouncing baby boys into our family. Grayson’s diagnosis blindsided us. Looking back we can see the subtleties that he was affected with PNP deficiency but it’s not like we were looking for it so we didn’t see it. Elliot’s diagnois devastated us. Why us? It’s just not fair! Very few doctors have ever heard of this disorder and here we are with three!
It’s heartbreaking watching your child go through something no child should ever have to suffer through. It’s not just the medical side of things that is hard. It’s the isolation. Not being able to go to birthday parties or preschool or into a store. All typical childhood activities. Watching them yearning to socialize with other children as you drive past a playground on your way to another appointment. All typical childhood activities. Things your children cannot do because they cannot be exposed to germs.
These months past diagnosis have been a whirlwind. We have moved to a new city for treatment, become nurses caring for central lines, watching intake/output and giving meds, and, walked the dimly light hospital at night for something to do. All the while our boys’ have shown us unimaginable courage and bravery as they have x-rays, CTs, skin biopsy, blood draws, chemotherapy, viruses, and hospital sleepovers. And they still smile.
—-Check out PNP and Me on facebook to learn more about their family journey.—-