The Road to Diagnosis: Jump Into Genetics
Let me just tell you something. You never sit through a high school science class thinking that you’ll someday have a child who requires extensive genetic testing. If I had known, trust me, I would have paid a lot more attention. At this point in our journey I could tell you the most basic of the basic facts: amino acids are the building blocks of a protein and genetic code is made up of four letters, but please don’t ask me what four letters they are. Like many other pieces of information I thought I’d never need to remember later in life, I was wrong.
Landry’s first appointment with her original geneticist was at St. John’s hospital in Springfield in October of 2019, a full three months after the referral was placed. We spent the first portion of the appointment virtually with a genetic counsellor. This is where you go over extensive parental and family history, among other things, in preparation to see the doctor. It was exhausting, if I’m being honest, and there was still so much talking left to do. We then spent the next portion of the appointment with the doctor before ending in the lab having necessary labs drawn.