Nothing 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 entire family forever…even if you and your husband already knew it in your hearts.
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. However, not that Friday. Not while I felt like my whole world was suddenly swimming around me.
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 has brought up a few different possibilities for various syndromes since we met with her for the first time over a year ago. Each one she mentioned I mentally checked it off my list right after I heard the symptoms. I knew Lucy didn’t’ have them. When she mentioned this Bardet-Biedl Syndrome, right before Christmas, Dave looked it up and started to worry. Symptoms include slower learning, weight issues, and extra digits (Lucy had an extra toe when she was born).
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 to start to worry. To me it felt like it just couldn’t happen to Lucy if we didn’t know anything about it.
My husband Dave knew we definitely needed to test her for it. He had a bad feeling about it right from the start. As much as I tried to bounce that bad feeling off of me, it gradually seeped in, little by little.
So we took her in for yet another blood test right after Christmas. Just a precaution. Just to quiet our fears. The way I played it out in my mind was that it would come back negative and I could go back to my own diagnosis I had made: Lucy was just a little bit slower than our other kids. She’d catch up eventually as long as we all worked with her and kept going with her to the therapists. All would be well.
I gradually started to realize this syndrome was a big possibility. 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 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.
However, two weeks later on another early morning the same thing happened to me. The exact same thing. Then the worry started seeping in 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 Lucy 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 about 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 there thinking about our Lucy.
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 much 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 melts our hearts every time she throws it at us…which is a lot. 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 so much worse, and we are so thankful.
Dave and I are determined to become experts on Bardet-Biedl and to learn everything we possibly can and to help Lucy progress in every way she can. I have loved watching Dave come home each night and work with her on various things. I have loved watching the kids work with her, hearing them pray for her (their bowed heads sometimes coming up with teary eyes), listening to them talk about her.
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. We feel like she makes our family whole in so many ways. This is hard. But Hard is Good.
Love you Lu.For more information on Lucy, please visit Shawni’s blog.
QUESTION: What challenges are you are facing in your life? What are you learning from them? How have you come to terms with hard things?
CHALLENGE: Please share your story – you can send in a whole essay like this one or post a comment here. As you share what you feel comfortable sharing, others can learn and feel less alone in their struggles – and writing down your experiences and processing what you’re learning can be very therapeutic for you.
Image provided by Shawni Pothier.