Paige
Paige is 18 years old and was diagnosed with Mucopolysaccharidosis Type VI (MPS VI) in June 2017 at the Mayo Clinic. The doctors had a good idea what to look for, but testing for the genes proved to be difficult. It took our team of three diligent geneticists to finally identify the proof that we needed to diagnose the disorder and begin enzyme replacement treatment to help slow the progression. On July 19, 2017, Paige had a port placed and received her first infusion of Naglazyme. She will undergo this enzyme replacement therapy weekly, for the rest of her life, unless a cure can be found. She has named her port Rico—Port-o Rico.
Paige has always loved to dance, play sports, hike, and be a tomboy. Some of those activities must be done in moderation with the skeletal dysplasias that affect her joints, but she will often throw caution to the wind and do them anyway, as she is able. She adores being in and near the water and is a fierce animal lover, trying to feed/pet any bird, squirrel, or dog that she happens upon.
~Belinda, Paige’s Mom
Mucopolysaccharidosis Type VI
Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many tissues and organs to enlarge and become inflamed or scarred. Skeletal abnormalities are also common in this condition. The rate at which symptoms worsen varies among affected individuals.
People with MPS VI generally do not display any features of the condition at birth. They often begin to show signs and symptoms of MPS VI during early childhood. The features of MPS VI include a large head, a buildup of fluid in the brain, distinctive-looking facial features that are described as "coarse," and a large tongue. Affected individuals also frequently develop heart valve abnormalities, an enlarged liver and spleen, and a soft out-pouching around the belly-button or lower abdomen. The airway may become narrow in some people with MPS VI, leading to frequent upper respiratory infections and short pauses in breathing during sleep. The clear covering of the eye typically becomes cloudy, which can cause significant vision loss. People with MPS VI may also have recurrent ear infections and hearing loss. Unlike other types of mucopolysaccharidosis, MPS VI does not affect intelligence.
MPS VI causes various skeletal abnormalities, including short stature and joint deformities that affect mobility. Carpal tunnel syndrome develops in many children with MPS VI and is characterized by numbness, tingling, and weakness in the hands and fingers.
Artist: Jota Leal
