According to an article from The Huddersfield Daily Examiner, Isla Sykes was diagnosed with mucopolysaccharidosis (MPS III), otherwise known as Sanfilippo syndrome, at age four. Her uncle Ryan Townrow, is planning to run fifty miles as part of a fundraiser for the MPS Society, a nonprofit organization that is dedicated to funding research for treatment for all of the many form of MPS.
Mucopolysaccharidosis (MPS) are disorders of the metabolism caused by either the malfunctioning or malfunction of lysosomal enzymes that are necessary in order for the body to break down glycosaminoglycan molecules. These molecules are essential for the formation of various forms of bodily tissue.
In Sanfilippo syndrome, which is the type that Isla has, heperan sulfate is the molecule that the body is not able to break down properly. This molecule is normally found on cell surface glycoproteins and in the extra-cellular matrix.
People with Sanfilippo syndrome begin to show symptoms early in life and suffer from significant breakdown of the central nervous system. Problems with speech and behavior, sleep problems, developmental delays, and seizures are common symptoms early on, but sufferers eventually lose their motor and cognitive abilities. People with the disorder may have some skeletal abnormalities and usually do not survive beyond their thirties. To learn more about this disease, click here.
The unusual diagnosis left her family devastated. Treatment for the disorder is mostly supportive as there are currently no approved medications that can stop or reverse the progression of symptoms. With this knowledge in mind, Isla’s family decided that contributing to research for MPS with fundraising was the most helpful response. While there may be little hope to actually save her life, her mother Nic says that helping fundraise for research is the only way to increase their chances.
