WHAT IS SPG50?
SPG50 is an autosomal recessive inherited disease. Both parents must have a pathogenic (disease causing) mutation in the gene AP4M1. There is a 25% chance that a child will inherit both parent’s pathogenic variants and will have SPG50. AP4M1 is one of four genes that helps to carry out the proper function of the adaptor protein complex (AP-4). This protein is essential to neuronal growth.
SPG50 is neurodegenerative. It is initially characterized by ventriculomegaly, microcephaly, global developmental delay (in particular speech impairment), low muscle tone in infancy, and febrile seizures. Low muscle tone eventually progresses to spasticity in the lower extremities, leading to severely impaired mobility and paraplegia by the age of 10 - and by the age of 20, quadriplegia.
Few individuals have survived into their 30’s.
Lincoln's laugh is incredibly wholesome and is sure to brighten anyone's day.
He is a ray of light and brings so much warmth into our lives.
We would like to extend a special thank you to Jon & Becca with Snow Peak Photography for generously donating their time, energy and resources toward making this beautiful video for our family so that we could share our story.
“On dark nights a lighthouse is a beacon of hope to those at sea. These children need advocates. Lincoln’s Light aims to be that advocate.”
— Our Dear Friend, Brandon Sackett
Cape Kiwanda, Pacific City, Oregon. Photo by Millie Olsen Photography