Bardet-Biedl Syndrome

by Naomi Eby Several years ago, I was diagnosed with a rare genetic disorder. It explained health issues I was experiencing, such as difficulty controlling my weight. It also made my family and me aware of other problems I might encounter later, including how my vision will decline, perhaps before I become an adult. If a cure to the degeneration is not found beforehand, eventually I will become blind. So far, I have been blessed, and the deterioration has been slow, but at this point, I have lost some central [...]

One dark night about six years ago, when my daughter Naomi was 9, I remarked that the Big Dipper was really bright. Naomi had squinted and blinked up at the darkness, wrinkled up her nose a little, shook her head and said, “I can’t see it.” I remember standing behind her and pointing it out while [...]

Myrtle Beach, South Carolina and the Embassy Suites at Kingston Plantation will always hold bittersweet memories for our family. Even before we were married, my husband and I would attend medical and dental meetings at the beautiful oceanfront oasis, enjoying romantic candlelight dinners and soaking up every precious second of our time away from the [...]

I’m up before the sun, shaking sleepy children from their beds, “Come on guys, up you go! You can sleep in the car.” If I’ve been fortunate enough to find childcare that day, I’m only waking one or two kids. If my friends and family are busy, I’m loading all five of my kids into [...]

It happens when we’re standing in line at the grocery store and the sweet older gentleman behind us wants to make small talk. It happens when we’re raking leaves on a clean, clear fall day and a new neighbor stops by to meet us. It happens when we visit a different church, and when my [...]

One day my daughter was with me while I was running errands. We made a quick stop at a grocery store and loaded a shopping cart down with packs of soda cans. After grabbing a few more groceries, we struggled to push the heavy cart to the checkout lanes. As we got up our speed [...]

I used to believe that if you had something wrong with you, you could head to the doctor and he or she would run a few tests and then tell you what was wrong. It wasn’t until I had two daughters born with a rare presentation of a rare genetic condition that I realized even [...]

When I was 23 years old, I stood in the corner of a little room in the Emergency Department watching nurses and technicians pin down my first child. My tiny, 2-week-old daughter. She screamed for me and I held back tears as they stuck her over and over again, searching for a vein. We were [...]

The first thing the doctor noticed when my daughter Naomi was born was her club feet. It was two hours later that the nurse, who was giving Naomi her bath, called the doctor back to look at my child’s distended abdomen. Naomi was born with a rare genetic condition that wouldn’t finally be diagnosed until [...]

Dear Bardet-Biedl Syndrome, I first met you when I was 23 years old, when all my husband and I expected to find out was whether our first precious child was a boy or a girl. We met you through the words “her kidneys are a little too bright.” You struck through my heart with a [...]