Now 7 ½, Katie was diagnosed with NF1when she was just six months old. A slightly bowed left leg and the presence of several ‘café au lait’ birthmarks—which are also early indicators of the disease—led her parents to consult medical geneticist Karen W. Gripp, MD, since the condition is shared by other family members. Dr. Gripp confirmed the diagnosis and counseled them regarding Katie’s care and continued monitoring of her situation, noting that NF1 is one of the most common dominantly inherited genetic disorders, occurring with a prevalence at birth of approximately one in 3,000 people, and its clinical manifestations are extremely variable.
A subsequent consultation with pediatric orthopedic surgeon Mihir Thacker, MD, resulted in Katie’s first visit to Lawall in June 2014, where Harry (Bud) Lawall, CPO, was charged with fitting her with a brace to support and protect her affected leg.
The specific type of bowing seen in both the tibia and fibula required an AFO or fracture-type brace to provide stability to those bones and prevent the lateral bowing from becoming worse.
Even then, in the early days of her care, at 18 months old, “she was spunky and always in good spirits,” Lawall remembers.