Achondroplasia
Sixteen-year-old Emily Frederick of Gadsden is an inspiration to her family, her friends and to her caregivers at Children’s of Alabama. Her courage has, on occasion, brought even her doctors to tears. Emily has achondroplasia – in laymen’s terms, dwarfism. But that does not stop her from being a fiercely determined, fiercely independent nationally ranked Paralympian whose immediate goals are to make the 2016 USA Paralympic team and to earn a college scholarship. Marcia Farabee remembers being shocked, confused and scared when she learned of her newborn daughter’s condition. “About nine hours after Emily was born, the pediatrician met with me to explain the diagnosis and all of the medical problems that achondroplasts have,” she says. “He was very scientific and left me with a list of things she would never be able to do.” While just weeks old, Emily began her first round of tests with a variety of specialists at Children’s – including neurologists, pulmonologists, ENTs, gastroenterologists, sleep medicine physicians and J. Scott Doyle, MD, an orthopedic surgeon who over the years would become one of her biggest fans and friends. On average, achondroplastic dwarfs will require five to seven surgeries. “Emily surpassed that number years ago,” Marcia says. One of her earliest neurosurgeries required her to be positioned facedown in a horseshoe headrest for more than 10 hours, resulting in pressure burns to her forehead. “When Dr. (Paul A.) Grabb made rounds after her surgery, he gently rubbed her forehead as he apologized for the burns,” Marcia remembers. “Tears were streaming down his face, but I assured him that I was not thinking about the burns, but rather praising God that my child had survived the surgery.” An emergency operation before Emily was a year old probably saved her life. “Emily’s spinal cord was pressing into/growing into her brainstem, and that would have eventually stopped her from breathing,” Marcia says. “Even the neurosurgeon who discovered the problem was surprised at the severity of the compression because Emily was lifting her head, was very responsive and had no symptoms of severe compression. But as soon as Dr. Grabb saw the MRI, he began planning for emergency surgery. “Because Emily exhibited no symptoms of this major neurological problem, it would have most likely gone undiscovered until it caused her death.” Six years later, it was Dr. Doyle who cried with Marcia when it became evident that Emily’s severe kyphosis (an abnormal, convex curvature of the spine, with a resultant bulge at the upper back) would require a rare posterior/anterior spinal fusion. “Emily went through various bracings between age 13 months and 7 years, but the problem persisted to the point that surgery was necessary to prevent organ damage,” Marcia explains. “Dr. Doyle was emotional when he told us he had done everything he could to prevent surgery. When I asked him how many times he had performed this type of surgery, he told me Emily would be the first. “He was holding Emily while he encouraged me to take her anywhere for a second or third or fourth opinion – that he would help me find doctors wherever we wanted to go,” she says. “Then he said something that eliminated any need for a second opinion. He told me that there may be better doctors out there and doctors with a great deal more experience in kyphosis correction in achondroplasts, but that he loved Emily like she was his own and because of that he was going to take greater care with her than any other doctor would. “And he did – his diligence and care have given Emily a back that is completely straight. Dr. Doyle’s plan for the surgery was to prevent the kyphosis from getting worse and to stabilize her back. He wasn’t sure he would be able to correct the curvature, but the surgery was so successful that Emily’s back is now completely straight.” Emily’s next major surgery was for spinal stenosis in 2013. According to Marcia, this surgery is common for dwarfs in their late teens or 20s but since Emily had to have it at age 15, it is possible she will require future spinal surgeries. Today, though, Emily is not worrying too much about future surgeries – her focus is on achieving some very lofty athletic goals. “Emily has always been very athletically inclined,” says her mother. “She played soccer from ages 3-7, volleyball in grades 7-9 and basketball from age 8 until high school, when it became more difficult for her to keep up with average-sized athletes.” At that time, Emily discovered Lakeshore Paralympic Training Center and began training in swimming and track and field. In 2014, her first year of competing on the Lakeshore team in Wheelchair and Ambulatory USA events, she set regional records. This qualified her for the National Junior Disability Championships where she won a silver medal in the 50-meter backstroke and gold medals in the 60-meter dash, 100-meter dash, discus, shot put and javelin – setting national records in the 60-meter dash, 100-meter dash, discus and shot put. In the summer of 2014, Emily was one of only 15 junior athletes invited to a special training camp at the United States Olympic Committee (USOC) training center in Chula Vista, CA, where she was tagged an emerging Paralympian. She was invited back to the training center in September and – in October – was named All-American in two track and field events. She was ranked #1 in Paralympian shot put and #8 in discus. Emily continues to train with hopes of making the 2016 USOC Paralympic Team and competing nationally and internationally.* She will compete in the Pomona-Pitzer Track and Field Invitational in California on April 4. Last year, Emily appealed to the Alabama High School Athletic Association to include adaptive ambulatory track and field among its championship events and, in January of 2015, the AHSAA executive board voted to do just that. Emily now competes on her high school track and field team and is working hard to make it to the state championship in Gulf Shores in late April. As she pursues her dreams, her Children’s family cheers her on. “It had been eight months since her last clinic visit with Dr. Doyle, but when we arrived in February for a checkup to ensure her training was not compromising her spinal fusions, his nurse greeted us saying, ‘How’s our future Olympian doing,’” Marcia says. “Dr. Doyle has never approached Emily’s condition as a problem. He celebrates all good things about her condition and – most notably – her personality, and is constantly encouraging her.” Dr. Doyle says caring for Emily has been a blessing to him. “She has taught me a lot about the human condition – and everything I've learned from her has been uplifting.” “The moment we walked into Children’s the first time, we knew God had put us there,” Marcia adds. “The people there are fulfilling a calling, not doing a job. Emily has been treated with compassion, love and expertise. They have cried with us, encouraged us, celebrated with us, consoled us and been incredibly patient with us.” Emily agrees. “Children’s is fantastic,” she says. “I have never felt different at Children’s. I’ve felt unique and special, but not in the way where people feel sorry for you. I love the way that I am not just rushed in and out. All of the doctors and nurses smile and talk to me – not just my parents. “They care about all of me, not just a medical situation,” she adds. “I should get to go there forever because I will forever be the size of a child.” *In February of 2015, Emily and her family learned that the International Paralympic Committee (IPC) would not certify her for international competition because of her condition. Gymnasts can be certified at age 14 and all other athletes at 16, but the IPC doesn’t certify dwarfs until age 18 because of an idea that “they are still growing.” The United States Olympic Committee (USOC) is appealing this decision. As soon as Marcia told Dr. Doyle and neurosurgeon James Johnston about this situation, they both immediately began working with the USOC by sending letters and film supporting the USOC’s appeal that Emily has reached her adult height.
