Havyn had a large café au lait spot at birth. (Pronounced café olé which would be a place to grab a cup of coffee with a side of chips and salsa) It was the first of many spots. Those marks were the first indicator that she might have something going on behind the scenes. At about 6 months old we started to get concerned and began seeing specialists. I’ll skip lots of details for the moment, but ultimately we received the diagnosis of NF1 — Neurofibromatosis Type 1. You can research it to learn more, but it is a genetic disorder that affects 1 in 3000. Half are inherited, the other half a spontaneous occurrence. Hers is the latter.
Symptoms are ALL over the map. Most develop various tumors (typically benign) but just about everything else can pop up. So far we’ve had a lot of cosmetic things: the café au lait spots, some bone deformities, and a couple other dermatological issues.
In December 2015, a routine MRI discovered her first tumor – on her right optic nerve – an optic glioma. The tumor has continued to advance, though it seems to cause little to no problems. Doctors are concerned about potential vision loss in additional to other concerns. We’ve been doing an eye patch a couple hours a day which she calls her “eye sticker” and she really loves the lady bug patterned ones.
Tammy had been increasingly concerned that something more was going on. Her back was looking a bit funky — we weren’t sure if that was from some of the bone deformities, etc — plus the girl doesn’t sleep well… and momma has an intuition. We were concerned for scoliosis and potentially more. We leaned into the doctors and asked them to do more scans. After some additional prodding, they agreed to scan her spine during her next MRI.
And that brings us to June 13…