Orthopaedic Surgery
Abby
"May 10, 2003 at 2 pm. Every parent of a child with Rett Syndrome knows the exact time of her diagnosis," explains Nuria. "It is the moment when parents know life will be totally different."
Nuria's daughter Abby was diagnosed at 25 months old. Today at eight years old, Abby exhibits many of the complications that can be caused by Rett Syndrome, including autistic-like behavior and a life in a wheelchair requiring constant care giving.
Rett Syndrome is a rare developmental disorder affecting one in 10,000 people in the United States. Because the disorder is linked to a mutation on the X chromosome, it is usually only found in girls. Children are generally born clinically normal, but their development begins to slow between the ages of seven and 18 months -- missing major milestones such as crawling, walking and talking. It is a progressive neurological disorder exhibiting reduced muscle tone, loss of purposeful use of the hands and a diminished ability to communicate and express feelings.
Scoliosis, an orthopaedic disorder where there is an abnormal curvature of the spine, is often apparent in children with Rett Syndrome. Since Abby was three, Nuria and her ever-expanding team of healthcare givers had been keeping an eye on the curvature of her spine -- hoping it would not continue to progress and impact her ability to breathe. When Abby turned eight, they witnessed a rapid shift of her spine's curve from 21 degrees to 45 degrees in six months.
A Critical Care nurse by training, Nuria knew the complications of performing surgery on a patient with multiple disorders, so she researched her options. "I was looking for someone who had done this level of surgery many times. After reading all of the published papers, there was no question we would choose Dr. David Roye," says Nuria.
In February, she brought her daughter and their X-ray films to meet Dr. Roye for the first time. At that point, Abby couldn't sit up -- she was bending off to the right and showing a look of pain on her face. "You could tell instantly he really likes kids," says Nuria, "and he explained exactly what we would be facing. Dr. Roye told me with great honesty that it would be 'hell' for about four weeks, but then Abby would have a turnaround. He told me the decision to have surgery was about the quality of her life."
Only two weeks after her spinal surgery, Abby had her turnaround. "There were no more spasms, and at 12 days after surgery she was sitting perfectly straight -- with no look of pain. She was brighter. Happier."
Nuria acknowledges her difficulty in making the decision for surgery for her daughter, but today she knows she made the right choice. Abby is able to enjoy her days -- out of pain. She loves the water when they take her to the pool; she loves to be moving as they take her for long walks; and she loves watching her videos. Abby's big sister, Sabrina, and grandmother are big helpers in the home with Abby's daily needs of eating, bathing, and companionship. Sabrina is following in her mother's footsteps of helping others understand about the disorder. Sabrina gave a presentation to her 4th grade class on Rett Syndrome, and Nuria can be found at marches in Washington D.C., visiting Congress or her state Assembly to advocate for more research. They both agree that "the more people who hear about Rett Syndrome, the better."
