“Austin was in perfect health when he was born at 38 weeks. Only his liver enzymes were a little elevated.”
Renee Staska’s third child was hitting all the traditional childhood milestones — trying to stand, making eye contact, laughing.
When her elevated liver enzymes and proteins didn’t respond to medications, doctors decided to order some genetic testing.
“They called me and said they identified Niemann-Pick type C. It was a terminal diagnosis.”
Niemann-Pick type C (NPC) is a rare, hereditary and neurologically progressive disease.
So Renee dove into the world of childhood dementia.
“I was still reeling from this news when the doctor told me, ‘Don’t Google it, go home and give him love because there is no treatment or cure. There is nothing you can do.'”
She decided to test her two oldest children, four-year-old Hudson and two-year-old Holly.
The results were devastating.
“Having all three of my children diagnosed with a terminal illness was absolutely shocking to me.”
What is Niemann-Pick type C disease?
One in every 150,000 people has NPC.
The disease usually appears in early childhood and the average life expectancy is just nine years.
It is the result of two copies of a defective gene being passed on from both parents to the child, who has a one in four chance of developing the disease.
The disease causes fatty substances to accumulate in the brain, affecting the central nervous system and different parts of the body.
Symptoms of NPC and other forms of childhood dementia include deterioration in memory and balance, lung and liver failure, delayed motor development and seizures, according to the British National Health Service.
According to the Childhood Dementia Initiative (CDI), a non-governmental organization in Australia that aims to increase knowledge and encourage more research on the topic, around 700,000 children around the world live with dementia.
But data for poor and developing countries is lacking due to limited access to specialized health care and genetic testing.
Five years after her diagnosis, Renee’s oldest son and daughter now show signs of the disease.
“My oldest son, Hudson, is quite behind in school. He can’t read and write. He’s very impulsive when crossing the street, for example. His eye movements have slowed down and he also gets tired often.”
“My daughter Holly’s vision has also started to suffer. She is falling behind in class and there is a gap in her social skills.”
Children receive different treatments regularly, including occupational therapy and physical therapy to help keep them strong and healthy.
Renee came across CDI and its founder, Megan Maack, while trying to understand her situation.
What is Sanfilippo syndrome?
Ten years ago, Megan Maack lived a life of “chaos”, juggling a corporate career and two children under the age of five.
Her four-year-old daughter Isla was then diagnosed with Sanfilippo syndrome, another rare genetic disease that is a type of childhood dementia.
“At the time of diagnosis, Isla had mild symptoms, mainly delays in language and communication development,” he says.
“She said single words but didn’t put them together. She was slower than the other kids to pick things up, so I went to the doctor.”
Megan says Isla’s pediatrician told her not to worry.
“But something inside me said that something wasn’t right, and I call it maternal intuition. So we went to a clinic that did a genetic panel test (which looks for changes in several genes in a single test)”, he says.
“And thank God we did, because it would take us a few more years to get a diagnosis of Sanfilippo.”
Every moment is precious for Megan, as Sanfilippo syndrome has no cure and most children’s life expectancy is no more than adolescence.
Soon after, Meghan’s two-year-old son Jude was also diagnosed.
“Both my children’s father and I have a mutation in the same gene, and unfortunately we pass that gene on when we conceive our children,” she says.
“Isla used to read, she could run, jump and swim. She was a cute and lively little girl who loved to dress up and make friends.”
Children with Sanfilippo syndrome lack a protein that breaks down large sugar molecules in the human body.
As the molecules accumulate in cells, they cause irreparable damage to all organs, including the brain, causing widespread inflammation and loss of sensitive brain tissue.
This leads to loss of developmental skills, deafness, hyperactivity, behavioral problems and seizures.
“Today Isla is 14 and Jude is 12,” says Megan. “We’re seeing them slowly disappear.”
“Isla doesn’t know who I am most days. She often leaves the house and wanders off, something we know happens to many adults who have dementia.”
“People talk about grief when someone dies and they talk about anticipatory grief. We don’t have a word for what we go through, to lose someone little by little,” says Megan.
Kristina Elvidge, head of research at CDI, says there are not enough clinical studies underway.
“There are 12 times fewer tests carried out for childhood dementia than for childhood cancer,” she says, “even though it causes a similar number of deaths in Australia every year.”
Brian Bigger, professor of Cell and Gene Therapy at the University of Manchester, studies neurodegenerative metabolic diseases that mainly affect children.
“One of the most promising treatments in clinical trials is gene therapies,” he says.
This is the repair or replacement of lost genetic material using a deactivated virus.
There are two main types, one which involves the targeted delivery of genetic material to the bloodstream, spinal column or even the brain.
The second requires the use of stem cells from the patient’s blood, which are harvested from the bone marrow and can transform into any type of blood cell.
After infection with a modified virus, the altered stem cells are returned to the patient’s body.
The patient must receive chemotherapy so that the altered stem cells can grow and produce healthy cells within the body again. This therapy also reaches the brain.
But the treatment comes at a significant cost.
“One of the problems we face with these diseases and treatments is that they are absurdly expensive to bring to market, costing millions of dollars to develop,” says Bigger.
“We treated five patients in a study and the results in two of them — who were two years old at the time — were remarkable. One of them can now perform complex tasks, such as riding a scooter and talking to her brother, and these skills are often limited in Sanfilippo. The other child has been responding well.”
However, researchers also urge caution, as most patients in clinical trials have not reached the age at which the most severe stages of the disease typically appear.
Meghan’s son Jude still interacts with the rest of the world, although his vocabulary has become more limited.
His daughter Isla has lost almost all of her language, but can still say one special word.
“If she’s happy, she’ll look you in the eye and say ‘happy’. That just melts me,” he says.
“You always wait anxiously for your child’s first word. But you never imagine that you will be attentive to your child’s last word.”