Adriana Borries

Adriana was our third child. We already had two healthy daughters and wouldn´t ever have guessed we were carriers of a syndrome. Actually we were done with our planned family, so this pregnancy was more of a surprise. However, we felt that the baby was supposed to be with us and were looking forward to another little bundle of joy. Due to my two previous pregnancies, I kind of felt pretty early something was different. At 18 weeks gestation an amnio was done. The result was perfectly alright, yet the subtle fear wasn´t gone at all. Around week 28 gestation the due date was “corrected” because of the small size of the baby. Even in the womb Adriana was quiet and didn´t kick nearly as much as the others did. A placenta insufficiency was suspected but not confirmed, however there was no real reason to find why she was so small. I was even asked if I had smoked or taken drugs, which I didn´t of course. Since Adriana was breech and didn´t seem to grow anymore, a c-section was done 2 weeks before her due date. She had to stay in the hospital for three weeks, and nobody had a clue what was wrong. Other than her tube, due to the lack of suck, and her webbed toes she looked rather “normal”. Finally we insisted on relocating her to a bigger hospital with an experienced geneticist. The very next day she was diagnosed with SLOS. Within the following week she had surgery to fix her pylorus stenosis but other than that she didn´t have any physical problems. When she was about 3-4 months old we decided to provide her with a g-tube as she started to pull out the n-tube several times a week. I won´t forget the moment when I – for the very first time – saw her pure little face without a tube and the bandaid to fix it.

She had never been really skinny and put on weight nicely. In some pictures she even looks rather chubby. Adriana was a happy and content baby. She never cried for something but would always wait patiently. During her first and only summer she did great, and we even went on a family vacation to Spain. The problems started in September at age 11 months. Suddenly Adriana started snoring during the night. It was so incredibly loud that I had to go and wake her several times at night because it really scared me. She did have apnea and I was afraid she would suffocate in her sleep. Breathing was so exausting for her and often times she would wake up in the morning soaked with sweat. She began to have gastritises repeatingly with hardly enough time to recover in between. Nothing really helped to prevent it. At her next eye check-up she was diagnosed with cataracts. Also her ptosis got really worse, and she had a hard time opening her eyes. However, the most important concern was to remove her adenoids so she would be able to breath properly and the snoring would stop. This minor surgery lasted only 20 minutes, but in the end took her life. She developed Acute Respiratory Distress Syndrome (ARDS) combined with a fulminant sepsis. She lost the fight for her life 24 hours after surgery.

Adriana´s sweet personality was the center and the soul of our family. She was always happy, smiling a lot and never asked for something. She was so content as long as she was around us. We were allowed to take care of her for 15 months and cherished every moment. The lessons she has taught are priceless, and even though the road has been rocky, I feel gifted because she picked me to be her Mommy. Whatever there is to come in life – nothing can take away the pristine and unconditional love and the beautiful memories. Nothing can belittle the impact on my life. She has changed me in the past and still does every day. Her love and her lessons are a gift that last a lifetime.

Sabine & Andreas Borries
Parents of Adriana, SLOS, October 11, 1997 – January 26, 1999 and her sisters Patricia Sarah, Julia Fabienne and Angelina Noelle
Neuss am Rhein, Germany