Read about the heartbreak and the hope for Australian children and their families impacted by Sanfilippo Syndrome.
Our lives were in those few minutes following diagnosis, seemingly destroyed. Every day we got up with this great black shadow looming over our family. Yet we had to get up and make every day a special, wonderful and happy new day for Jacob. We love this little man so much and we are haunted by the days we may never spend with him. But this is not about us, this is about Jacob and our hope for Jacob.
We got Peter’s diagnosis four days before his fourth birthday, while I was heavily pregnant with our third child Natalie. Peter had been going to St Demiana Child Care where he was in an early intervention program and already seeing an OT and speech therapist every week.
ISLA & JUDE DONNELL
When our son, Jude, was born in 2011 we felt our family was complete. Big sister, Isla, who was just under 2 at the time, fell in love with Jude immediately as did we all. We considered ourselves blessed having two happy, healthy children and we had such hope for our future.
On the 29th of October 2010 at 1.10pm we were told of Cody’s diagnosis of Sanfilippo Syndrome (MPSIIIA). We cried more than I ever thought it was possible to cry. Cody was 9 years old.
When Kyuss was born five weeks premature, he was born ‘with the caul’, which means the amniotic sac was still intact over his head and face. It is considered quite rare and is meant to be good luck.
Jane Kohne loves her little sister Annika and her dog Alli. In fact, "Alli' was her very first word. However six-year-old Jane's words have all but gone. Her abilty to walk is being stolen by Sanfilippo and she is currently transitioning to a wheelchair. Sanfilippo has already taken so much from Jane but her family live in hope.
Timothy and Tenille Koistinen are the proud parents of two-year-old twins Tate and Jobe. In March 2018, this Melbourne family's lives were turned upside down when their son Jobe was diagnosed with Sanfilippo Syndrome. At the tender age of two, Jobe's life, while only just beginning, will be cut short by Sanfilippo. Jobe's mother shares her hopes for further scientific breakthroughs and her bucket list for Jobe.
Oliver McCoombes is full of endless energy but unlike most four-year-olds, Oliver, aka ‘Ollie’, is battling the childhood dementia, Sanfilippo. His parents Catherine and Philllip describe Ollie as an "affectionate and very active little boy", so being told he won’t be like that forever, they say, "is one of the worst things a parent can hear".
Thomas Mooney was born in 2000, so the Mooney family joke is that he was the only one who caught the Y2K bug! Of course it wasn’t Y2K, it was Sanfilippo Syndrome. Rose and Brett Mooney share their journey from diagnosis and denial to acceptance and creating the best life possible for Thomas. It takes a team, and this is "Team Thomas".
Alec entered our world almost two years to the day after his big sister Sienna. A nuchal fold scan had shown the possiblity of a child with Downs Syndrome. After a nervous wait, the results of an amniocentesis returned negative for any of the tested genetic abnormalities. We were reassured our child would have the same opportunities as any other child entering the world.
I chose to start our story from this point in our lives as previous to arriving in Australia, we lived a relatively normal life. Our children were happy and healthy, and as a family, we were content, with nothing out of the ordinary to report.
Sanfilippo has already devestated my husband's family once. Lachlan's oldest brother had Sanfilippo Syndrome. While planning our pregnancy, we asked doctors about Sanfilippo as we knew Lachlan was more than likely to be a carrier due to his older brother Quinnton. We were told "not to worry" as the chances of me also being a carrier were so small. After Matilda (Tilly) was born we requested a screening for peace of mind. Matilda's mother Kate shares her story...
Both our children were born in Bangkok, where I lived for 12 years working in the adventure travel industry. It was during this time that I met my wife, Wanna, or as she is known "Daeng". Thai people believe that evil spirits are attracted to young children, so in order to confuse them children are given two names: their official name and a nickname.
JONATHAN & LAURA SMIT
Our lives changed in an instant in 2000 with the devastating news that both our children had been diagnosed with Sanfilippo Syndrome (MPSIIIA), an auto recessive genetic disease where the statistics are 1 in 4 chance of being affected and we got 2 out of 2!
When Phil and Rohanne Tiefel discovered they were having twins they were in disbelief. Just before Christmas 2014 they became the proud parents of two tiny little men – Lucas and Dominic. In 2017, they found themselves in disbelief once again when one of their twin boys – their little ‘blonde bombshell’ – Lucas, was diagnosed with Sanfilippo Syndrome. Mum Rohanne shares her family's journey and explains why they are full of Hope for Lucas.
WAYNE & PETER THOMPSON
In the late 1960s there were few known cases of Sanfilippo Syndrome in Australia and while Wayen and Peter Thompson were alive, their mother Ann only met two other families with a child battling this heartbreaking condition. The boys died just two months apart in 1981 but their little lights continue to shine bright.
SUKHDEV RAM NAIPAL
Suren Naipal honours his late brother Sukhdev, whose life was cut short by Sanfilippo Syndrome. Suren first heard about Sanfilippo when he was seven or eight years old, and his parents explained his younger brother would not live a normal life. It was a difficult concept to grasp at the time, however the family’s whole world changed from the introduction of that one word… Sanfilippo.