This is a rare genetic condition that affects 1-3 in 1,000,000 children. It can present in two ways, classic and atypical. Classic PKAN is characterized by early-childhood onset of progressive dystonia, parkinsonism, and brain iron accumulation with children bound to a wheelchair and placed on a feeding tube at the end of life. It is terminal and children with classic PKAN typically do not survive past age 10. Atypical PKAN has a later onset, often around adolescence. Atypical PKAN has a more gradual progression and children have longer life expectancies. Mark and I are both carriers of the gene. Each of our children have a 25% chance of inheriting it. We are currently having our 5-year-old daughter tested given there is a chance she could present with atypical PKAN. Despite Loic’s challenges, he has continued to develop normally otherwise. Cognitively he understands everything we were saying and has found his own ways to communicate, including through sign language. He is now saying several words, and is walking, running and happy. This diagnosis has been heartbreaking and devastating. Every time I look at him, I fear what is to come, while trying to soak up every second of my time with him. Comprehending how such a cruel disease could exist in this world for our children is impossible. There currently is no cure for PKAN and treatment is palliative care. While research trials are underway for potential cures, and there is a drug that seems promising, we are not there yet. Given the progression of this disease, we don’t have enough time, and it is hard not to feel hopeless. We will search for every possible treatment and potential cure for him. Because this is a rare disease, pharmaceutical companies do not fund research for cures. If they did, it is likely the drug would be too expensive given the limited number of people in need. Our goal is to educate others about this disease and raise as much money and awareness as possible. In the meantime, all we can do is provide Loic with the best life possible and continue to pray for a cure.
