A Pakenham woman has called for a national awareness day to recognise a “rare and catastrophic” form of childhood epilepsy that local doctors were unable to diagnose in her son.
Shelley Morris went through the ordeal of trying – and failing – to get a diagnosis in the surrounding area for her now two-year-old son, Hunter.
She said doctor after doctor cast aside her concerns as mere paranoia. She was told it was nothing to worry about.
Shelley said Hunter’s debilitating seizures progressed very gradually and were barely noticeable at first.
It began with the occasional little shudder but over time, daily spasms caused him to cry and they began to emerge in clusters. One month later he was having four to five spasms each day.
On the Queen’s Birthday last June, Hunter experienced five clusters of seizures before lunchtime.
“I drove him straight to the Royal Children’s Hospital. We arrived at 2pm and didn’t see anyone until 11pm. It was the first time I had been told that I was not over-reacting,” Shelley said.
“After a series of tests over the space of a week, he was diagnosed with infantile spasms at 15-months-old and his seizures stopped within two weeks of starting treatment.”
“Three months was a long time to go without a diagnosis. We were very lucky. Most children with infantile spasms have serious health and developmental issues for the rest of their lives.”
Infantile spasms, also known as epileptic spasms or West Syndrome, is a type of epilepsy that tends to affect infants under the age of one.
It is characterised by clusters of peculiar seizures and a grossly abnormal EEG pattern of electrical impulses in the brain, impairing cognitive development.
Babies as young as one month old can experience spasms.
The cause of Hunter’s seizures is unknown.
The longer the spasms endure before they are treated and controlled with the aid of medication, the greater the harm to the child’s development.
By the time Hunter was diagnosed he had stopped talking, lost some muscle tone and his general understanding of the world around him stalled.
Hunter began an early intervention program with a speech therapist last February.
It took him two to three months to learn 50 words.
“He’s had to play catch up because at age two he was, basically, around the one-year-old level, but he’s a determined child,” Shelley said.
“He’s now one-and-a-half years’ seizure and medication free.”
Shelley received good news in December that Hunter had almost caught up to his peers and has begun stringing sentences together.
“It’s tough, though. I still can’t let go of the stress,” she said.
“Australia does not have an infantile spasms awareness week. We don’t even have an awareness day.
“There needs to be an awareness day because even though it’s rare, it’s important that cases are diagnosed early and that doctors know what signs to look for.
“The condition causes catastrophic damage. In the worst cases, it can progress to a child needing to eat through a feeding tube, never learning to sit or walk and learning can become very difficult.
“We were just really lucky. I feel like we haven’t even experienced how bad it could have been so I want to help others by raising awareness.”
The Royal Children’s Hospital sees about 20 to 30 cases of infantile spasms each year.
Like Hunter, about one quarter of those cases occur without a known cause.
For more information, visit the Facebook groups The Infantile Spasms Community Discussion Group and West Syndrome/Infantile Spasms Australia, or infantilespasmsproject.org.
Originally published at Pakenham Gazette.