Shawni Eyre Pothier is the mother of five children between the ages of eleven and two. She received a bachelor’s degree from Brigham Young University and is an accomplished writer, speaker and presenter. Shawni is also in demand as a photographer specializing in images of children and families. You can read more from Shawni on her blog LifeNothing can really prepare you to get a phone call from the geneticist telling you that your child has a really rare syndrome that will change her life, and that of your family's forever...even if you and your husband already knew it in your hearts.
And as much as we kind of knew it was coming, I do wish the geneticist would have at least told me to sit down, or find a quiet place...I mean, she MUST have been able to hear the chaos going on around me on a Friday afternoon when my house was filled with the whole neighborhood.
I'll never quite forget standing there folding laundry trying to squelch the tears that were burning to come out amidst my kids and their friends asking intermittently for a snack, help with their roller blades, wanting a drink, etc. I know kids have an automatic button that tells them they need to start talking to an adult the second she gets on the phone and not give up (at least mine do), and usually I can multi-task. But not that Friday. Not while I felt like my whole world was suddenly swimming around me.
Our two-year-old, Lucy, has worried us from the time she was nine weeks old and was still not smiling. I mean, we have four older children who went through all the steps: smiling, gurgling, cooing, laughing…but not Lu. Lucy was serious. She was slow to crawl. And she had no intention of walking until she neared her second birthday. There was no doubt about it: something was different.
So, after myriads of doctor appointments, unanswered questions, and mixed emotions, we finally found a geneticist who could help. She suspected a couple different syndromes…the tests were conducted, and our answer came in that dreaded phone call on that Friday afternoon.
Lucy has a syndrome called "Bardet-Biedl." It's extremely rare, and we are just coming to grips with the fact that we can't go in and sit down with the geneticist and get a concrete run-down of all the things that will change in life. It's different for every child. But most of the children diagnosed have health problems, are overweight all their lives, and the most heartbreaking thing for us is that the majority of these kids lose their vision. Most of them become legally blind by the time they are teenagers, sometimes as early as age eight or nine.
The geneticist had brought up a few different possibilities before this one. Each one she mentioned before I mentally checked it off my list right after I heard the symptoms. I knew Lucy didn't' have them. But when she mentioned this one we started to worry. It matched Lucy.
I never looked it up. I felt that the more I pushed it away, the more likely it would be that it would just disappear. I didn't want to know the symptoms. I didn't want it to become reality. To me it felt like it just couldn't happen to Lucy if we didn't know anything about it.
But Dave knew we definitely needed to test her for it. He had a bad feeling about it right from the start. And as much as I tried to bounce that bad feeling off of me, it gradually seeped in, little by little.
One early morning Dave came back into our room completely ashen-faced after he had checked on Lucy who had been crying. The sun still wasn't up and it was still pretty dim in Lucy's room. He claimed she couldn't see him. (Night vision is the first thing to go with Bardet-Biedl.) I rolled over and sleepily told him he was just too worried about the whole thing...he must be reading into things. Lucy is just too stubborn. She just didn't want to look at him.
But two weeks later on another early morning the same thing happened to me. The exact same thing. And the worry started seeping deeper. By that afternoon, though, I was telling myself the same thing I told Dave. Lucy's just so stubborn. She just didn't want to look at me. She must have just been tired. Surely she was just in a funny mood.
The next week we were at Dave's brother's house. We were gathering the kids to head home that night and when I came out Dave and Max were talking to Lu in the shadow of our car. When I got closer Max told me Lucy couldn't see. I smiled and told him sure she could. But I knew he was right as soon as I looked at her. She was looking through us. She looked just like a blind person. She reached to show us where our noses were when we asked but she missed...by a long shot. Her eyes were just as beautiful as ever...but they couldn't see us. They couldn't see a thing.
The ride home was slow motion. It was like Dave and I were sitting in a bubble in the front seat. We didn't talk...just sat with tears in our eyes thinking what this meant. It was like the commotion and noise of all the kids in the back turned swirly and far away...and completely muted as we sat thinking about Lu.
So, Lucy fit into what this syndrome outlined. Now we just had to wait for the geneticist to tell us what we already knew.
Though we don't know so much of what we will eventually learn about this syndrome, we do know with all our hearts that we adore this child. Each of us in our family could absolutely eat her up. She is so endearing and her smile (that was slow to come when she was little) melts our hearts every time she throws it at us...which is a lot. And we're so grateful for that. We're so grateful that although she may learn things a little slowly, she'll still have her mental capacities. We're so grateful she can walk and she can breathe easily and she can throw out hugs and kisses like nobody's business. We are so thankful that only one in five of our kids has to deal with this (apparently each of them had a 30% chance to have this syndrome with us as their parents). Although this has hit us hard, we know it could be something much, much worse, and we are so thankful that it’s not.
One thing's for sure: we couldn't be more thankful to have this little girl in our family. We feel like we have been blessed and prepared each step of the way. And we feel like she makes our family whole in so many ways.
Love you Lu.
Shawni and her mother, Linda Eyre, wrote a book on motherhood shortly before Lucy was diagnosed with her syndrome. In honor of Lucy and the wonderful resources they have found that support children that deal with issues of vision loss, Linda and Shawni have decided to donate a portion of the book proceeds to the Foundation for Fighting Blindness and to the Foundation for Blind Children…wonderful organizations that help hundreds of thousands of individuals with vision problems. For more information please click here.
