Bad News and Good News about a Genetic Syndrome

The bad news is that almost two years ago our adorable four year old grandchild Lucy was diagnosed with a rare syndrome called Bardet-Biedl (named after the two doctors who discovered it). When Lucy was born with an extra toe, doctors assured her parents that extra digits were very common and that they could remove it easily. However, that extra little toe has led to the gradual discovery of a new life for Lucy, filled with issues of a rare genetic syndrome that involves some kidney issues, learning and behavior issues, a fight with obesity and most heart-breatking, blindness possibly as early as age nine.

Because syndromes display themselves in different ways in every child, the struggle to figure out Lucy’s own kind BBS is ongoing…forever. We have studied and learned as much as we can, talked to a multitudes of doctors and worked with countless therapists. Shawni, Lucy’s mom has been to a parade of doctors, some of whom are helpful but most who are clueless because they have never heard of this syndrome. Lucy eats less than the other kids and every mouthful of food that goes into her mouth is measured but she continues to gain weight…a constant struggle.

The good news is that there are days like the one you see pictured below when you almost forget what a struggle her parents have been through to create that beaming smile! Lucy is adorable and for the most part, an absolute delight! Thanks to those who have shown up in droves to help, her life is a filled with love and progress. Her parents, siblings and sixty cousins simply adore her! They, along with therapists, a special pre-school teacher and her mom have taught her all the letters of the alphabet. Her learning and concentrations skills are extraordinary and her will is also extraordinary. She sings, she dances and when you try to get her to do something she doesn’t want to do, she doesn’t do it! With the help of a teenage cousin she has just learned to buckle her own seat belt, put on her own shoes and she is gradually learning to dress herself.

In addition, we have been working with The Foundation Fighting Blindness to find funds for research to fight blindness. The good news on that is that through extensive studies and current test groups we are encouraged with the progress on fighting blindness, especially retinitis pigmentosa which is what Lucy is fighting. Her night vision isn’t good and even dim light causes her to struggle. How grateful we are to these doctors and technicians who have dedicated their lives to people who are struggling with their eyesight. We can’t imagine that those gorgeous blue eyes, peering at you in the last picture by Lucy’s twelve year old sister Elle will not be able to see. But it could happen and Lucy’s parents are trying to prepare for that event, should it happen.

Her life will inevitably contain many struggles and some heartbreak, but the joy that this little child has brought to her family and friends is incalculable! Along with bad news, always comes the good things we learn from the trials we face in life. None of us would ask for our trials, but very few would give up what we learn as we struggle with them. It is quite a journey!

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