Five Years

The time was around one in the afternoon. I answered a call from a number I didn’t recognize. It was the genetics clinic. And even though they had told us it would take 4-6 weeks, they had gotten results on Finley’s genetic testing. They found a small deletion on her 18th chromosome that affected the TCF4 gene. That finding was consistent with Pitt Hopkins Syndrome.

“Ok. So what does that mean for her?”

” Well first let me tell you that kids with this syndrome have a normal life expectancy. But…children will exhibit significant developmental and cognitive delay. It is unknown whether she will be able to walk in her lifetime. These kids often have similar facial features. They have some of their parent’s traits but often resemble others who share their syndrome. And unfortunately kids with Pitt Hopkins typically never develop speech.”

Five years ago on this day, a nice genetics counselor named Amanda delivered a fierce punch to the gut, figuratively. I tried to hold my composure as best as I could while on the phone with this perfect stranger. I took notes, asked questions, held back the sobs that were waiting in my throat and scheduled our follow-up appointment. It was a relief to finally hang up the phone so I could fall apart. My knees buckled at the top of my stairs. I laid on the floor and wept. Just a few minutes prior, I was cleaning my house to prepare for company the next day. And just like that, I was shattered in pieces on the floor.

As if being on the receiving end of devastating news isn’t bad enough, I then had to deliver that news to my husband at work, then our family and friends, all of whom knew that we were awaiting for answers for our girl. I can remember it all. It was so painful. It is so painful. The memories are excruciating and they can still bring me back to those stairs each year. But the world kept spinning and before we knew it one year had passed, then two, three, four, and five.

We have endured a lot of anger and sadness these last five years. We have learned that acceptance doesn’t replace grief. I have aged about a hundred years and been overwhelmed beyond what I thought I could survive. It has been a tough five years. But we have found joy in small victories. We now know that someone can make you feel more with their eyes than they ever could with words. We have have learned that you will find love and support from some of the unlikeliest of people. We have a new family of friends who share our journey. So here is to another year of special needs parenting under our belt and to how far we have come as a family. Each day has some sweet and some some sour. Every morning is a bittersweet awakening.

Stay tuned for my upcoming post on building a custom home.

To find out more about Pitt Hopkins Syndrome visit pitthopkings.org