Last month after seeing countless Facebook advertisements for a mystery subscription box themed after one of my favorite horror flicks, I caved in and signed up.
Ever since the package came, I’ve spent a few nights a week trying to decode, decipher, and seek answers to the first part of this puzzle.
After an appointment with a geneticist last week, I realized that having a rare genetic condition is a lot like trying to work through the mystery in a box that’s sitting on our dining room table.
I was born with a condition called Oto Palatal Digital Syndrome (OPD).
It’s so rare that I had no idea there was even a name for it until my daughter Lilly was born in 2006 and diagnosed with it when she was less than a week old.
When I was born in 1972, the doctors attributed my issues (small lower jaw, cleft palate, and webbed fingers) to the fact that my mother was 41 when she gave birth to me.
In 1972, having a baby at that age was practically unheard of.
When I was older, it was determined that I had some sort of syndrome, but they couldn’t pinpoint exactly what it was.
When I went in for genetic counseling when my husband and I decided to start a family, I was told that there was a 50/50 chance of passing down whatever I had onto any children we would have.
As it turned out, 2 of our four kids have OPD.
After Lilly was born and diagnosed, I had my first clue- a name, but back then, even hours in front of a computer yielded little information.
As time went on, I got more bits and pieces of information that would help me understand how I came to have OPD when there was no known history of it in my family.
I learned first hand that paying attention to the genetic lessons in high school biology paid off after all when the geneticist got out the Punnett Square, a diagram used to determine the probability of an offspring having a particular genotype.
Our most recent genetic appointment held the biggest hope for a “break” in the case- an order for whole Genome sequencing, which we had hoped to get for years, but insurance wouldn’t touch.
Now, thanks to a grant, we’ll be swabbing the inside of our cheeks soon and sending it off to a lab to be decoded and hopefully find some answers and be able to cross some “what if’s” off of our list.