Receiving a Rare Diagnosis
You met Sarah when she wrote this beautiful poem about our PURA gathering. Now here she is again telling the story of her daughter receiving her PURA diagnosis.
One year ago today, my life changed. Alvie was two weeks old. Ryan was back at work and Audrey was at the sitter’s. Alvie was sleeping in my arms after nursing. It was the middle of the afternoon and my phone buzzed. I didn’t know the number but knew that it was someone at Nationwide Children’s Hospital. It was strange because Audrey was not waiting on any test results or doctor follow-ups. I slid the button to “accept” and our world changed.
Our genetic counselor said hello. He is someone who I talked to fairly regularly. He talked me down off of some bridges when the syndromes they were testing for were too scary. He also celebrated with me when those results came back negative. And he sat with me for hours discussing results that, although technically abnormal, did not lead us any closer to a diagnosis – other than crossing another thing off the list. He had done that in a really big way five months before when we received the original results of Audrey’s exome sequencing. The answer was still elusive even after scouring 22,000 genes. But a quick five months later, the world changed.
The genetic counselor said, “Sarah, we found something. We think we have a genetic cause.” And he went on to tell me about Baylor running the exome again and identifying a gene that is showing similarly affected individuals. It was brand new and rare. There were only 11 kids in the whole world that have been diagnosed. Audrey was invited to be a participant in the study introducing this important genetic discovery to the world. At that time, and still today, doctors and scientists have barely a glimpse of what the gene does. This discovery could change the world.
He gave me a name. PURA. Pur-alpha. A gene. A protein. A diagnosis. A tribe. Within five hours of hanging up the phone, I connected with a mom in Texas. The PURA Tribe was born. Two children. Two families. And then it grew and grew. Over the past year, we learned so much about our own children by looking at them reflected back in the faces and experiences of the other children. We learned about ourselves and our needs and desires. For our children, for ourselves, for the future, for today. Knowing that we are in this together, our worlds changed.
One year ago today, after that phone call that came out of nowhere, I sat on the couch with a sleeping baby on my chest, all alone. I felt like I was blind-sided, or like I had a run-in with a wolf that was stalking me, that I didn’t even know was there, and that left me wounded and breathless on the side of a deserted path, but by the time I got home there wasn’t a scratch on me to prove what I lived through. It was still quiet and calm in the living room. The warm sun still shining though the sliding doors. The TV still muted but the home improvement show still playing. Still to this day, I wonder how life did not stop, or even pause to acknowledge, the moment when the world changed.
But I know the answer. The answer is that nothing changed. Audrey is still Audrey. Everything that she will ever be, will be. Everything that I will be as her mother, I will be. The world did not change the day we were introduced to PURA; it changed the day we met Audrey.
And in closing this week of posts about Aidan’s rare diagnosis, I’d like to unveil our new PURA Syndrome website. Please share to help us raise awareness in an effort to further research and provide support to families.