Aussie baby born with terminal 'twitch' disease so rare, it doesn't have a name

Photo: Juanita Simpson
Photo: Juanita Simpson 

Juanita Simpson says her daughter, Ashana, was absolutely perfect in every way when she was born 14 months ago. 

However, the pure joy felt by mum Juanita, partner Brenten and big brothers Chad, five, and Deegan, four, soon turned to concern, when the little girl developed a twitch at seven-days-old.

The twitches, which Juanita describes as looking like she was "waking up in shock" with her tiny legs shaking before falling back to sleep, turned out to be infantile seizures, which doctors took months to diagnose.

Photo: Juanita Simpson / Ashana's Blog
Photo: Juanita Simpson / Ashana's Blog 

A genetic gene pool blood test sent off to the USA revealed that Ashana has two conditions that are both so incredibly rare, they occur at a rate of just one in every one million people.

The devastating news is that the now 14-month old's prognosis is far from promising. There is no cure for either condition - and one is potentially fatal. 

"One is so rare it hasn't even got a name, wrote family friend Tahnee Hohendorf on a GoFundMe page she has set up to assist the family with Ashana's significant medical bills. 

"It's simply known as STXBP1, and the other is Alexander Disease. Both of these conditions are limited to just 300 cases worldwide and both have a poor outcome," explains Tahnee.

The only course of action for Ashana's family is to treat her symptoms and with treatments costing up to $700 a week, the family is struggling to make ends meet.

Juanita tells Essential Baby, "Ashana's weekly treatments are hydrotherapy, physiotherapy, occupational therapy, N.O.T brain therapy and osteopathy with the fortnight speech therapy."

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In addition, Ashana has ongoing monitoring by a team of specialists.

"Every 3 months she sees a neurologist, ear nose and throat specialist and paediatrician," Ashana says. "Every time she gets sick she requires monitoring due to risks such as aspirating when feeding and oxygen levels dropping due to her compromised airways."

STXBP1 is a gene on chromosome 9, so the mutation which occurred on this part of Ashana's chromosome doesn't currently have a name - it's simply named for the gene it occurs on.

The condition affects the neurotransmitters in the brain and their ability to communicate with each other. It results in "...seizures, developmental delay, learning difficulties, behaviour problems, unsteadiness, abnormal muscle function, tremors and low muscle tone."

Ashana with one of her older brothers. Photo: supplied

Ashana, 14 months, with brother Deegan, four. Photo: supplied

Alexander disease is a "rare disorder of the nervous system," that causes, "... seizures, stiffness in the arms and/or legs, intellectual disability, and developmental delay." It's caused by a mutation on the GFAP gene.

While it's currently dormant in Ashana's body, the family never knows when it will activate, which will immediately put a time limit on her life.

In a searing post on Ashana's blog, Juanita describes the agony of what they go through.

"It grieves my soul to see her in pain, to never know when seizures will come, to see her struggle, to know that she will have to fight ten times harder for the things the rest of us don't even bat an eyelash about!"

Ashana is nonverbal and, "It tears her dad and I apart inside every day of our lives knowing and seeing how badly she she wants to share her thoughts and words that are stuck inside of her with the world, but can't."

Juanita also reveals that the family have been on the receiving of rude comments from strangers when Ash was just a little baby with a feeding tube in her nose.

"'She's too fat to need that tube,' 'She looks fine. Why does she have that ugly thing in her nose?'," she recalls sadly. 

"If you ever see a baby or anyone for that fact with a tube, always remember people are battling a hard battle underneath the brave bubbly smile - no matter the age," Juanita advised.

While the family doesn't know how Ashana's future will look, they count the blessings every day for the joy their daughter brings into their lives. 

"For those of you who have never seen a "non verbal" child communicate, its truly beautiful. Every morning Ashana babbles from her cot to let me know shes awake. When I pick her up she wraps her arms around me and cuddles into my neck, followed by a kiss or five on the cheek."

"In true Ashana style she is hitting her inch-stones better then we expected," wrote Juanita on her first birthday in September. 

"Despite her significant hypertonia she is doing so well with sitting unassisted and now able to do so playing with toys for minutes at a time. She has also learnt to throw a ball which is a milestone she has hit right on time for her age (YAY)."

As for Ashana's progress, Juanita wants nothing more than a simple chat. "Our hope is that she will get to have a conversation with us, whether it be with words or sign language."

It's also her dearest wish to see Ash playing with her siblings. Hopefully she can one day run around with her brothers and even ride a motorbike with them," she said.

Ashana's GoFundMe

Juanita and Brenten Simpson

Juanita and Brenten Simpson