Brittany Stevens - Fall 2011

As the mother, I had the easy part, carrying a precious bundle of joy for nine months and delivering her. Miss Brittany has been living the unique part, the mysteries of Nager syndrome.

Brittany Alexandra Stevens turned 21 on August 23rd. She’s had an amazing year: danced the night away at her senior prom, graduated from high school and was chosen as prom queen at summer camp. Princess Brittany (as she’s affectionately known), deserved this wonderful series of events, especially since life hasn’t always been a party.

Brittany was born at 5:36 a.m. on August 23rd, 1990, in a well-respected hospital in Philadelphia, Pennsylvania, after two long days of labor. The plan was to keep her in my hospital room, breastfeed her and take her home after a couple of days.

God had other plans. Brittany entered the world into special circumstances immediately! What was expected to be a glorious moment unexpectedly became a confusing, frightening and blurred whirlwind. The doctors and nurses began to loudly yell commands and utterances of sheer disbelief. Someone was pushing on my belly. My husband was moved aside. Accusatory questions and comments were hurled our way. Brittany’s father had a look of shock on his face as someone placed our daughter in my arms.

The next fifteen seconds were crucial, because I fell in love with the eyes, smell and soul of my 16-inch long baby, whose head was only 11 inches around and filled with dark, shiny, curly hair. One picture was quickly taken and she was suddenly removed from my arms and whisked off to the NICU. My brand-new “mommy instincts” kicked in—I wanted to go where she was going!

As new parents, we were supposed to be on the telephone bragging to everyone that “the baby was here and she’s so cute!” However, we were trying to explain to family and friends through tears and fear that she was kind of “funny looking” and in ICU.

In her first hour of life, we were also devastated by hospital staff who accused us of doing something wrong during the pregnancy. We were told “she was a very bad baby” and they were going to let Brittany expire.

We had to go through legal challenges within two hours of her birth to keep her alive. Brittany was finally given IV nourishment at 5:00 p.m., after a judge agreed she had a right to life, even a challenging life. It would take five long years for Brittany to be diagnosed with Nager syndrome by a fellow at Children’s Hospital of Philadelphia (CHOP).

Nager syndrome is extremely rare, affecting approximately 110 people in the world. Some of the complicated features include a craniofacial anomaly, missing bones throughout the body, eating and breathing issues, possible mental retardation, bilateral hearing loss, etc. Many of the babies born with this syndrome don’t survive infancy because of a very short chin, small mouth and weak palate, which makes it difficult for a baby to coordinate sucking, breathing and swallowing. The gene causing this syndrome has not yet been identified.

Brittany was 3 lbs., 14 ozs., and all eyes. Initial nourishment was provided through IV solution followed by NG tubes inserted into her nostrils, running down into her tiny stomach. Eventually, she received breast milk through small tube bottles. It took her an hour and a half to drink a few ounces.

For 41 long days after she was born, I would sit in the NICU from 7 a.m. to 7:30 p.m. and tend to her basic needs right along with the nurses. The doctors wracked their brains to try and figure out why she turned out the way she did. Finally, at 4 pounds and 14 ounces, we took her home on a heart and respiration monitor, infant CPR training under our belts, and lots of prayers and well wishes from the NICU Team.

The journey from the hospital to today has been incredible! Brittany has had 33 operations, including a C1-C2 spinal fusion, two major oral surgeries, bone added to both feet, knee restructured, her chin lengthened and 13 sets of ear tubes.

She’s endured lots of pain over the years, but she is living a life that some doctors said would never be possible! We were told she would never walk, talk, run or even know she was in the world. We were told she would live in an institution and be a drain on the state! We were told she was a very bad baby and would not live long!

Despite a very low APGAR score at birth, Princess Brittany is one of the most dynamic young women I know! She first spoke at age 5, and boy does she talk now! She first walked at age 2, and now she runs, dances and walks on a treadmill daily! But more than these miracles, Brittany knows she’s in the world and tells everyone important to her that she loves them daily! She’s a practical joker, loves a good movie and knows how to party! She’s caring, empathetic and always helpful. Doctors don’t know everything—at least not in this case.

We learned about Nager syndrome through NORD (National Organization for Rare Diseases) when Brittany was 5. Having a name for her syndrome led us to Margaret Hogan, founder of the Foundation for Nager and Miller Syndromes (FNMS), an international support organization. Additionally, Diana Sweeney of Children’s Hospital of Philadelphia (CHOP) told us about Children’s Craniofacial Association (CCA).

These incredible organizations have become family to me and my little family. Over the past 16 years, they have provided priceless information through medical professionals and parents, which has helped our entire family and family doctors better understand Brittany’s medical needs. Dr. Wendy Ingersoll, Brittany’s longtime pediatrician, has been instrumental in helping her receive all of the medical support she’s required during this journey. In fact, her staff has become involved with the Pennsylvania Home Health Initiative, a movement designed to be proactive with special children and adults. In other words, it takes a village to help a family! Also, the various specialists at CHOP who helped get Brittany to where she is today include Dr. Scott Bartlett, plastic surgery; Dr. Steven Handler, ENT; and Dr. Bernard Horn, orthopedics. These doctors represent a small fraction of the large team of doctors who worked diligently to give Brittany a wonderful quality of life. They are forever in our grace!

Brittany will begin working at an adult workshop soon. Her brother, Quinn, recently began college. Brittany lost her father, Herbert L. Stevens Jr., to cancer two years ago.

As for me, I will continue to work with several organizations on behalf of special children and adults, especially those living with Nager syndrome.

If you would like to share your story with CCA, please send an email to Annie Reeves at areeves@ccakids.com. If your story is chosen, with your permission, we will edit and publish it in the CCA newsletter, on the Web site or use it for public awareness programs. Not all stories will be selected.

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