We, along with you, are horrified at the crazy condition of our economy. How did we get here and how do we get out? How long will this last and what should we do to survive until we “turn the corner?” One thing is sure amidst all these trials: Things will change! How soon and which direction it will go remains to be seen. In all our fussing about what to spend, how to save, how long a job will last and what to do if it doesn’t looms large in the lives of so many.
Still, we’ve had a wake up call this month with our darling two-year-old granddaughter, Lucy. In the delivery room, we were elated to see this healthy baby emerge into her grand new adventure. Within minutes we realized that she had all her fingers and and toes–plus one! We all loved that extra toe, but before she started to walk, a doctor removed it so she could wear shoes. We worried about Lucy because she didn’t respond as her four older siblings had. She seemed to have trouble seeing and then didn’t walk until she was almost 18 months old. Her learning abilities were slow and therapists came in to help her “catch up.” Of course we loved every chubby inch of that little cherub, and even through frequent tantrums because she couldn’t communicate her wishes through speech, we loved watching her grow and being cared for by her adoring parents and siblings.
At Christmastime, a geneticist followed a hunch and thought they should run a $4200 blood test on her to determine what her issues may be. The following story from our daughter Shawni (Lucy’s mother) chronicles the results:
“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 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.
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. With each one she mentioned, I mentally checked it off my list after I heard the symptoms. I knew Lucy didn’t’ have them. But 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. 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.
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.
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: 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 therapists. All would be well.
But gradually I started to realize this syndrome was a big possibility. 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 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 so much worse.
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. And we feel like she makes our family whole in so many ways.”
So there are trials and then there are TRIALS! Some things will pass and some will not. “Turning the corner” is not an option here. Yet, there is hopeful research on genes, chromosomes and retinal transplants somewhere down the road. Still, life will never be the same for this family. As we, as a society, struggle with our physical needs during this raucous recession and realize that many other lives will also never be the same, we must also realize how much we learn from adversity. Lucy’s adventure will be different than the one we expected in that delivery room. But “Oh the Places We’ll Go” as we work through our trials.
We love our daughter and her great husband and delightful children so much. Shawni’s blog has a huge following and has become an enormous support group. Anyone who would like to comment can go to www.71toes.blogspot.com. Many of her blog friends, most of whom she has never met, are part of a “Lucy Fan Club” and one even said she wears an “I Love Lucy” T shirt. What great support they are receiving in this life-changing trial! What is really important in life is taking the storms along with the sunshine because they produce such beautiful clouds with silver linings.
Love you Lu.
Tags: mama life