Amelia Cragen was diagnosed with PKAN in May 2015, just a month after her 4th birthday. PKAN is a rare disorder caused by mutations in the PANK2 gene. (Neurodegeneration with Brain Iron Accumulation)
Children diagnosed with Classic PKAN may have a more rapid progression of symptoms. Initially, they can be perceived as clumsy & later develop more noticeable problems with walking. Eventually, falli
ng becomes more common. Because they have trouble protecting themselves during falls, affected children may have repeated injury to the face and chin. Most cases of PKAN result in requiring a wheelchair by their mid-teens due to the inability to move or walk independently. Symptoms could also include poor vision or complete vision loss. Patients are at risk of premature death. The dystonia can result in swallowing difficulty and poor nutrition. Such secondary effects are more likely to cause premature death than the primary neurodegenerative process. However, life span varies among patients. With improvements in medical care, a greater number of affected individuals are living into adulthood. Amelia started showing signs of developmental delay around age 1 when she wasn’t meeting normal milestones. She has been in Speech Therapy since just 2 years old, going on average 2-3x per week. She is also receiving Physical Therapy 1-2x per week. She
received her diagnosis after an injury in the fall of 2014 which suggested a CT scan of her skull to check for injury. The CT showed calcium buildup and was followed by an MRI a few months later. The MRI includes more detail which showed the iron accumulation on her brain. Genetic testing confirmed the diagnosis; PKAN. Amelia is a very loving, happy 4 year old. She enjoys playing on her family’s farm, riding her John Deere Gator and is very passionate about animals. Amelia adores babies and has a heart of gold. She can easily put a smile on anyone’s face. How can you help? The NBIA Disorders Association relies on the generosity of families, friends and the community for support. Your gifts help to support families affected by Neurodegeneration with Brain Iron Accumulation, educate the public about these rare disorders, and advance, monitor and support research through our research grants program. A key part of our mission is to find a cure for NBIA. You can donate online at NBIAdisorders.org for ways to support Amelia and patients with similar disorders.
