Meet the brother and sister with a rare form of childhood dementia

Sixteen-year-old Eleanor Thorburn has a rare form of childhood dementia*.

The condition, known as neurometabolic disorder* L2 Hydroxy Glutaric Aciduria, was identified in 2015 when Eleanor was five-and-a-half.

Most people with the condition aren’t diagnosed until they are 16 or 17, but at the time of her diagnosis, Eleanor was the youngest person in the world to find out she had it.

Eleanor’s mum, Kathryn Thorburn, first noticed her daughter’s physical symptoms when Eleanor was about 18 months old.

It began with telltale hand tremors and Eleanor struggling to lift a cup to her mouth.

Then there was her general clumsiness, falls and, as she learned to talk, difficulty finding words only recently learnt.

But when Eleanor’s parents took her to see a paediatrician*, they were dismissed. Eleanor went through periods where she seemed to improve. She ended up being misdiagnosed* with autism* twice.

“She did four years of daycare/preschool and no one could put their finger on exactly what was wrong with her,” Mrs Thorburn said.

It was only when Eleanor started school that the family found out about her childhood dementia. Mrs Thorburn, a speech pathologist*, started working with members of the specialist team in paediatric* rehab and paediatric brain injury at John Hunter Children’s Hospital in Newcastle.

“I was able to ask for a second opinion and call on some contacts,” she said.

Eleanor was able to get an MRI*. The scan showed what her parents said looked like “a handful of white rice thrown through the white matter* of the brain” – damaged brain cells.

The MRI was circulated at John Hunter Children’s Hospital but no medical specialist there or at any other hospital in the country that the scan was passed on to could identify the condition.

So they sent the scan overseas.

“The paediatric neurologist* who happened to be working with me while I was in the Paediatric Brain Injury Rehabilitation* Team at John Hunter happened to know that the world expert in the Netherlands was Professor Marjo van der Knaap so he screenshot the MRI and emailed it to her,” she said.

Van der Knaap, professor of paediatric neurology at Amsterdam University Medical Centers, was not taking international patients.

But after seeing Eleanor’s scan, the professor gave the Thorburns a call.

Eleanor had neurometabolic disorder L2 Hydroxy Glutaric Aciduria.

After doing genetic profiling, Eleanor’s parents found they both had a recessive gene* which, when passed on from both, could result in a child whose body produced an acidic by-product during the metabolic process* that built up in the brain and damaged brain cells.

Sadly, children diagnosed with L2 Hydroxy Glutaric Aciduria usually don’t live to reach adulthood, however there was one rare exception of a person with the condition who lived to the age of 32. The Thorburns remain hopeful that with continued treatment Eleanor will exceed that.

Eleanor’s treatment consists of dietary supplements for amino acids* and vitamin B2.

Eleanor’s younger brother Josh, now 12, was also diagnosed with L2 Hydroxy Glutaric Aciduria at age four, taking the place of his sister in becoming the youngest in the world to be diagnosed.

Josh struggled with his motor co-ordination* as well as with fine language skills and finding words however thanks to Eleanor’s diagnosis Josh was eligible for treatment at an earlier age.

“He is physically more capable than Eleanor was. He still has problems but he’s learned to adapt. He builds quite complex Lego and those sorts of things. These days he loves playing video games. It’s not quite thumb tips on the controllers, it’s bottom of the palms,” Mr Thorburn said.

The kids’ parents are both grateful for Mrs Thorburn’s professional contacts and are mystified about how other families caring for children with childhood dementia, such as Sanfilippo*, Batten disease* and Niemann-Pick Type C*, navigate the health, government, education and Centrelink services without support.

They hope to see the establishment of a national childhood dementia unit, a “one stop shop”, where parents and carers can access a team of experts who can assist them as they care for their children.

“Having an integrated* national unit is essential because there is so much expense and so much time wastage in having to access and sit on waiting lists and just navigate the health system,” Mrs Thorburn said.

“When Josh was diagnosed the doctors didn’t want to start the treatment until we had a baseline of assessment and it was going to cost something like $5000 to do it privately and I rang my former boss in rehab … and I burst into tears.

Because Mrs Thorburn worked in the health system she was able to access better education and support than most people around how to get assessments for Josh.

“Within a month I had a neuro-psyche*, a physio, an OT* and a speech report already for NDIS* and we were in – within six weeks,” she said. “If we’d lived rurally, in somewhere like Tamworth, Coffs Harbour or Dubbo, that would never happen – and it cost us nothing. If we lived regionally it would require trips to Sydney for people that don’t have access to a therapist.

“A united approach saves everyone so much, from the emotional turmoil, from the stress, from costs to the government, from educational pathways. It just makes a huge difference.”

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GLOSSARY

• dementia: a group of neurological diseases that are degenerative, that is, they worsen over time, that affect memory, thought processes, emotional control, behaviour and the physical functions of the body. Dementia is caused by damage to the nerve cells in the brain. Childhood dementia refers to a group of more than 100 rare genetic disorders that can occur in children, affecting approximately one in 2900 babies across the world.
• neurometabolic disorder: genetic disorders affecting the brain that disrupt how the body makes energy from food
• paediatrician: a doctor who specialises in treating kids
• misdiagnosed: mistakenly diagnosed with a medical condition they didn’t have
• autism: a neurodevelopmental condition that affects the way someone’s brain processes information, leading to differences in social interaction, development and behaviour
• speech pathologist: people who diagnose and treat communication disorders
• paediatric: the branch of medicine dealing with children
• MRI: a magnetic resonance imaging scan, which uses a powerful magnet, radio waves and a computer to create detailed images of the brain and other structures inside the body
• white matter: a large network of nerve fibres that transmit signals between different parts of the brain
• neurologist: a doctor who specialises in the central nervous system
• rehabilitation: interventions that help someone restore physical functions after an injury or improve their physical abilities through targeted treatment
• recessive gene: a gene that only gets expressed in a child when both parents have it
• metabolic process: the way the body transforms food into energy
• amino acids: the building blocks of proteins, which are essential for all bodily functions
• motor co-ordination: being able to move the body in a co-ordinated way in order to do intended actions, like walking
• Sanfilippo: Sanfilippo syndrome is a rare form of childhood dementia caused by a lack of an enzyme that usually breaks down the large, complex sugar molecule heparan sulphate, causing brain cells to fill up with waste. Over time, the brain becomes damaged, eventually leading to death
• Batten disease: a group of genetic conditions that cause a build up of waste products in cells instead of the cells getting rid of the waste products, leading to seizures, loss of vision, cognitive decline and death
• Niemann-Pick Type C: a rare genetic condition considered a lysosomal storage disorder where a genetic variation stops the body’s usual process of breaking down and recycling molecules like fats and sugars
• integrated: including many different forms of care
• neuro-psyche: a neuropsychologist, someone who assesses the cognitive ability of a patient who lives with a disease or condition that affects the brain
• OT: occupational therapist, someone who helps someone take part in daily activities by looking at ways they can modify their environment to strengthen their abilities
• NDIS: National Disability Insurance Scheme, a Government scheme that helps to fund programs and support for people in Australia who live with lifelong disability

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QUICK QUIZ
1. What are some of the things Eleanor and Josh struggle with because they have L2 Hydroxy Glutaric Aciduria?
2. How old was Eleanor when she was diagnosed with the disease?
3. What age are kids usually diagnosed with it?
4. How is the disease being treated?
5. What do Eleanor and Josh’s parents hope to see the establishment of?

LISTEN TO THIS STORY

CLASSROOM ACTIVITIES
1. Convince Albo
If you could speak to our Prime Minister, Anthony Albanese, about why our government should set up a national childhood dementia unit, what would you say to convince him to do it? Use information from the story to write a detailed, convincing explanation for him.

Time: allow at least 20 minutes to complete this activity
Curriculum Links: English, Health and Physical Education

2. Extension
Why do you think that Eleanor’s treatment includes Vitamin B2? Brainstorm ideas. Then, use your research skills to find out why Vitamin B2 is important. Use the information that you have found to create a diagram that will help other kids understand why B2 is used to treat kids with L2 Hydroxy Glutaric Aciduria.

Time: allow at least 30 minutes to complete this activity
Curriculum Links: English, Science, Health and Physical Education

VCOP ACTIVITY
Let’s practise taking notes
When note-taking, we want to be able to extract the key pieces of information from the text or presentation. You start with determining the main idea: if you had to explain to someone in a sentence what the article is about, what would you say?

Then back up the main idea with two to four key points to support what you first stated.

What would you put as the main idea and supporting points to back up this article?

Once you have had a go at note-taking.

Share your results with a peer to see if you identified the same information or different.

Discuss the finding if you came up with different information.