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JJ's Story

J.J and his mother and father all smiling

JJ was born with Pelizaeus-Merzbacher disease – a genetic disorder characterized by the body’s inability to produce myelin, the covering that protects the nerves and promotes the efficient transmission of nerve impulses. Myelin allows “ideas” – like moving your right hand to pick up a pencil – to travel neuron-to-neuron from your brain, through your spinal cord, out to your peripheral nerves in your arm and finally to your hand. Without myelin, these ideas “leak out” and are never transmitted to their final destination.

For JJ, this means a number of things. He has head tremors, involuntary eye movements and a lack of muscle tone and control. Twice a week, JJ receives physical, occupational and speech therapies at Penfield’s Special Care Nursery. JJ’s therapists work collaboratively to help him improve his head and muscle control, eye movement and speech. They focus on increasing his mobility and core body strength, so he can move and play. His therapy is critical in maintaining strength and joint flexibility, and maximizing his abilities.

His work at Penfield has given him the strength to roll over, a first step toward more independent mobility. After learning to use a gait trainer, a piece of equipment that helps build strength and balance for children who have difficulty walking on their own, he is now working with a therapist to fine tune his skills in a motorized wheelchair. At Penfield, JJ is given the opportunity and strength to push beyond the confines of his body. JJ never gives up. Neither do we.