Briley Mae – CdLS

I would like to share with you today the story of my daughter Briley. Three years ago, I learned I was pregnant and was full of joy. I wondered, what color eyes will my baby will have? Will it be a boy or girl? Will it look like me?

I didn’t think about the “what if’s” like what if my baby has Down Syndrome or another kind of genetic abnormality. I just expected to have a healthy child. During a routine checkup at the four month mark, we were stunned to discover that our baby was not developing normally.

After I went through three amniocentesis to check for chromosome development, we knew our baby was in serious trouble. Our doctors sent me to Presbyterian Saint Luke’s Hospital in Denver to deliver where we received the news that our baby might not be able to breathe after she was delivered and that she may have heart defects, intestinal abnormalities, or fluid in the brain. God was with us that day because Briley came out screaming! She was born with a good set of lungs! It was then that we learned that Briley had Cornelia De Lange Syndrome.

Briley was born with a cleft palate, deformation of her arms and hands, and problems with her digestive tract but to me she was beautiful. For the next two months, Briley fought for life. The medical staff struggled to find the right supplements to keep her weight up since she cannot absorb nutrients like a normal child. Because of her cleft palate and digestive problems, she went through two surgeries to place a feeding tube in her stomach and keep acid from her stomach from flowing up her esophagus. To say that those two months were stressful would be an understatement. No one had information on the syndrome since it is such a rare disorder.

Luckily, I found the CdLS Foundation’s web site and contacted the wonderful people there. They were able to provide me and Briley’s physicians with vital information about the syndrome and what to look out for. After two months in the hospital, we then took the journey back home to Montana. I slept most of the ride and so did Briley while my aunt drove us home. It was rest most deserved from the months before. Coming home was a scary transition for me honestly because the nurses did all of her feedings and took care of most of her needs at the hospital. The feeding tube is what scared me the most.But eventually I got the hang of it and can now change it and clean it all by myself.

We had a lot of support come our way after coming home. Briley had therapy, Doctors appointments and more Doctors appointments two cleft palet surgeries, one eye lid lift surgery, problems with Briley getting IV’s, hospitalization from being sick.You name it, Briley has been through it. Along the way I always kept a positive attitude and Briley also. Without Briley’s overpowering spirit and drive, it wouldn’t be easy to make it through the day.

Every day, I look at her and know that I am blessed to have her in my life and her in others to show them that things aren’t so bad and to stay positive and there are happy endings! or more like happy beginnings!

Briley turned three years old in February of 2011! She has been doing great in her physical, occupational and physical therapies and we adore her therapists. She has started preschool and therapy once a week. We will start water therapy this summer! Briley loves carrots and eats sometimes half a container which is really good for her. She loves to eat jerky and Cheetos and just the other day she drank by sucking through a straw!

I am lucky to have the doctors, family and friends in our lives. It’s still not easy, but this abnormal life is so normal to us (me) now that i wouldn’t know the difference. I work full time and I want the best for my daughter. I strive my hardest to have her happy and healthy. I loved hearing all of the other stories from other families. It is very comforting.