Sharon and Andrew James have completely re-structured their lives for their terminally ill sons, writes ANDI YU.
Twenty years ago Sharon James was faced with an impossible decision: whether to keep her fourth son, still a tiny baby forming in her womb.
Sharon and husband Andrew had discovered a couple of years earlier that their second son, Zac, had a rare degenerative and terminal illness, called sanfilippo syndrome.
There was a chance of the same fate for their unborn child.
Sharon remembers how doctors broke the news of Zac’s condition.
“They told us that this uncontrollable three year old trashing the office was the best we could hope for and Zac would be lucky to make 13 (years old) and we’d be grateful when he passed away because of all the things that are going to go wrong.”
But Sharon was sceptical.
“I did leave the hospital and believe that if I treated him normal, he’ll be normal.”
Sanfilippo syndrome is an extremely rare genetic condition that affects a person’s metabolism resulting in severe damage to the central nervous system. It falls under the umbrella of mucopolysaccharidoses (MPS) – a group of rare diseases caused by the absence of a specific enzyme.
Sanfilippo sufferers lack an enzyme needed to break down sugar molecules. The failure to break down properly means molecules build up in the cells causing dysfunction, particularly in the brain.
I'm a strong believer in just putting your priorities back in a jar, shaking it up and starting again.
Sharon and Andrew James found out after learning of Zac’s disease that they both carried faulty genes that gave their children a chance of having the condition.
By the time Sharon was pregnant for the fourth time, she had two unaffected sons, Richard and Josh, and one affected, Zac.
She was told there was a 30 per cent chance her fourth baby would have sanfilippo.
“So basically I would abort a 70 per cent healthy baby. I wasn’t willing to take that chance,” Sharon says.
At 18 months of age, Jordan was diagnosed with sanfilippo. Sharon fights back tears remembering her family’s reaction.
“It was bad. It was really bad. I only have contact with one of my sisters. For the other two, we are in the ‘too hard basket’. My Mum’s the same and Andrew’s Mum’s the same. Their grandchildren are going to die, it’s really hard for them to cope.”
Zac and Jordan are now 24 and 19-years-old so they have already outlived their predicted age.
They are both tall and extremely active. Outward signs of their illness include the loss of speech, bowel control issues, clenched hands, trouble sleeping and occasional aggression.
Sharon says there is a cure but it’s not possible to administer it.
“They won’t ever find out how to do that safely until they get the funding to do the testing, so there are so many children out there that are never ever going to get the cure. They can’t get it past the blood-brain barrier. Because it’s got to get into the brain, they’ve got to work out some sort of transport."
Sharon says a lack of government financial support means parents are the sole fundraisers.
“If this was leukaemia or cancer there would be so much out there. There are only 50 children in Australia with sanfilippo syndrome.”
Thursday May 15 is MPS Awareness Day, an annual day to promote awareness of sanfilippo and other MPS conditions and to draw attention to the dire need for funding.
Other than funding for the cure, Sharon sees other needs too.
“I believe they should do newborn screening for sanfilippo because that way you know from day one that you can’t have the $500,000 house and you can’t have upstairs and downstairs and you get an idea of what your life’s going to be about.”
Sharon left work after Jordan’s diagnosis and Andrew later sold his painting and decorating business so they could be full-time carers for their sons.
They also sold their house and bought a spacious property near Echuca.
Three dedicated young women also work as carers for the boys.
“I’m a strong believer in just putting your priorities back in a jar, shaking it up and starting again,” Sharon said.
She says parents of young children with sanfilippo find it hard to imagine how much their lives will have to change to accommodate their child’s needs so the sooner parents get the diagnosis the earlier they can rearrange their lives.
The MPS Society has been supporting families dealing with sanfilippo and other rare diseases for 30 years.
National manager Nicole Millis says the organisation tries to connect families dealing with MPS to prevent them feeling isolated.
“Often you get diagnosed with a disease that you’ve never heard of and it’s really important to connect families with same diagnoses,” Ms Millis says.
Sharon James says the exhaustion and stress from caring for her adult sons has taken a personal toll.
“There are days where I want to pull the doona back over my head and just want the world to vanish. But I am grateful that my boys are so mild.”
The severity of Zac and Jordan’s condition is not as advanced as other kids she knows.
“You see 13-year-olds in a wheelchair being tube fed, when at five I saw the same young boy running around playing soccer.”
She believes having two unaffected sons, Richard, 29, and Josh, 22, has kept her grounded.
“They have the school homework, getting a licence; they have the girlfriend problems, growing up problems. Zac and Jordan don’t have that.”
Sharon advises parents of children with a terminal illness to try to focus on the positive aspects of life because time is limited.
“Get a video camera and be blessed with every day. Find the little things that they do, don’t always look at the medical side.”
To learn more about MPS and to donate, go to www.mpssociety.org.au