Whoever coined the phrase “ignorance is bliss” never talked to Stephanie Needham of Arden. When her son, Austin Price, was born in 2005, something was clearly wrong — but his doctors didn’t know exactly what. Every condition Austin was tested for came back negative.
Questions from the Start
As soon as Austin and his twin sister, Summer, were born, doctors realized Austin was struggling. “When he was born, he was basically motionless,” said Needham. “He didn’t have the energy to cry. He was fatigued; he couldn’t hold his arms or legs up. The doctors were trying different tests to find out what was wrong. Every time we would see a doctor, I would think, ‘Okay, you have to tell me what’s going on’ — but they were the ones asking me questions. I finally realized there was no one at that time who could help.”
Austin spent over a month in the NICU with no test coming up positive. Eventually, Needham resigned herself to the idea that they would never get an answer. All along, however, William Allen, MD, in the Mission Fullerton Genetics Center, continued investigating possible diagnoses based on available and emerging genetics research. Each year Needham would take Austin to Dr. Allen for any new genetics tests that might be a match, but each result offered the same disappointment.
“Many of our patients are seen over a long period of time,” explained Carolyn Wilson, MS, CGC, genetic counselor with Mission Fullerton Genetics Center. “Some genetic conditions may be definitively diagnosed from an early age, such as Down syndrome or dwarfism. Other families, like Austin’s, go through a ‘diagnostic odyssey,’ meaning we strongly suspect a genetic condition is present, but current testing is not able to provide the family with the exact name. Over time, through advances in genetic testing technology (as well as our providers continually learning about newly described conditions through meetings and other collaborations) a diagnosis is often eventually made.”
While the researchers at Mission Fullerton Genetics Center were doing all they could to uncover a diagnosis for Austin, Needham struggled in the interim. “Because no one knew what he had, it was hard to get help,” she said. “Doctors often didn’t know how to help; they would give us medicine for some of the symptoms, like seizures, but beyond that they wouldn’t know what to recommend. Getting him occupational therapy was almost impossible because insurance wouldn’t pay for it without a diagnosis. If you don’t have a diagnosis, you’re stuck.”
All of that slowly started changing in 2011, when Austin was 6 years old. Needham got a call from Dr. Allen about a disease that matched Austin’s symptoms. To everyone’s excitement, it came back positive. Austin had Koolen-de Vries syndrome. “We quickly learned that there was almost no research on this syndrome, but we had our diagnosis, and that was our starting point,” said Needham.
Despite the relief Needham felt in getting a diagnosis for Austin, she still encountered a lot of the same old challenges. The vast majority of doctors had never heard of Koolen-de Vries syndrome, and schools still struggled to help Austin.
Awareness began to improve, in part, when families of children with Koolen-de Vries syndrome started networking. Stephanie and her husband, Ted, started a foundation, Kool Kid Alliance (KoolKidAlliance.com), to educate people about Koolen-de Vries syndrome and to get these families together.
“When we got the diagnosis, I felt so relieved, but then I realized there was still so much to learn — and not a lot of places to learn it,” said Needham. “I started talking to other parents and realized how much we need to stay on top of everything.”
“When a condition can finally be clearly diagnosed, the most powerful opportunity that opens up for families is the connection with other families and the incredible relationships that come from this new community of support,” said Wilson.
Always on the Case
While it was often difficult for her to find help over the years, Needham said that there was one team always on Austin’s side, and still is — the team at Mission Fullerton Genetics Center. “Because his case is so rare, it at times felt like it was hard to get others on board, but Dr. Allen was always on board,” said Needham. “He was always there, always researching for us.”
Wilson said the center strives to foster hope in patients and their families through in-house genetic testing, conducting research, and educating and partnering with patients. Mission Fullerton Genetics Center is the only center of its kind in the region.
“Our goal is to offer the people of western North Carolina renowned providers, state-of-the-art clinical and laboratory facilities, access to complex genetic testing and collaboration with experts from around the world,” said Wilson. “The families we serve typically have complex medical needs, so being able to be seen locally by a high-quality clinic is a huge benefit to them.”
Genetic testing and evaluation is not about labeling people as having abnormalities, but instead about empowering them and their families to understand their genetic information so that their lives will be better. “This empowerment opens doors to opportunities and decreases the fear of the unknown,” said Wilson.
Needham agrees that empowerment is key, and she encourages others in similar positions to never give up. “When it comes to genetic testing, there is always something new out there to investigate,” she said. “You’ve just got to keep working through it. Once you have the diagnosis, you’re so blessed to have the resources and other families that are going through it, as well as that hope that you’re not alone anymore. And when you also have local, clinical partners like Dr. Allen and Carolyn, it makes such a huge difference.”
Carolyn Wilson, MS, CGC, is a genetic counselor with Mission Fullerton Genetics Center. (828) 213-0022
Mission Fullerton Genetics Center provides help for those affected by known or suspected genetic conditions. The center employs two medical geneticists, five genetic counselors, a licensed clinical social worker and a state-of-the-art genetic laboratory to help serve those in our region with rare diseases. The center is the only one of its kind in the region and has participated in clinical research trials in the development of an approved treatment for several rare disorders.