By Ellie Griffiths
The rare degenerative genetic disorder, Sanfilippo Syndrome (MPS III) is estimated to be found in one in every 70,000 births.
As the child grows, their body slows down as the syndrome takes over the affected child’s development, causing a severe intellectual and physical disability.
Sharon and Brian Johnson’s first-born, Nicola Jade (Niki), was diagnosed at 18 months with Sanfilippo Syndrome Type A, and passed away in 2006, aged 17.
“[Raising a child with Sanfilippo] was a whirlwind,” said Sharon, of Brisbane.
“We were so busy trying to live as normal a life as possible, with all the interruptions that Sanfilippo brings – hyperactivity, sleeplessness, constant one on one supervision, appointments and trying to keep one step ahead of changes and illness.
Sanfilippo Type A is the most severe of the four diagnosis types, with an average life expectancy up to mid-teens, depending on the severity of the individual.
This disorder is found in individuals whose enzymes essential for breaking down the long chains of sugar molecules used in the building of connective tissues, called Mucopolysaccharides (also known as Glycosaminoglycans), are absent.
Currently, scientists are unable to identify a cure for Sanfilippo due to the lack of funding and trained researchers available to pursue this cause.
However, with the advancement of technology, siblings of affected children are able to undergo genetic testing.
For 22-year old Rebecca (Becky), genetic testing allows her to know whether she is a carrier for the disability her sister, Niki, was diagnosed with.
“I think that it’s good to know now for sure rather than worry about it later on,” said Rebecca.
“Testing the baby during pregnancy puts the baby at risk; it’s much easier for me to just get a quick blood test. There’s a 66% (two in three) chance that I am a carrier so I think I have a responsibility to find out.”
Rebecca’s parents fully support her decision.
“I don’t want Becky to have to endure the sadness and pain of watching her own child deteriorate and die, when she has this opportunity to ensure this never happens,” said Sharon.
To find out more about Sanfilippo Syndrome and other related disorders, visit the MPS Society.