Juanita Simpson can’t help but mourn for what should have been. It’s been 14 months since her baby daughter Ashana came into the world appearing healthy and like “the picture of perfection”.
But almost overnight, it was all taken away.
“We prayed for health, and all the scans and tests assured us, we in-fact had a ‘healthy baby’,” the Gold Coast mum of three said. “She was born perfectly normal.”
But just seven days after her birth, Ashana developed a “twitch”.
“She would be asleep and she would just start twitching. It looked like she was kind of waking up in shock. Her leg would shake and then she would fall back to sleep,” Ashana’s mum told Yahoo News Australia.
After it happened several times, Ashana was taken to get checked out but it would be four months before the family could get their test results back from specialists in the United States.
The little girl had Alexander Disease - an extremely rare, terminal illness. Babies diagnosed with Alexander Disease don’t usually make it beyond the age of two. According to the National Organisation for Rare Diseases, Alexander disease is estimated to occur at a frequency of about one in one million births.
But that wasn’t all.
Ashana was also diagnosed with another extremely rare disorder –– this one so uncommon it didn’t have a name. The disorder is simply known as ‘STXBP1’ after the gene which the condition affects.
A disruption to this gene results in abnormalities in the function of the brain leading to seizures, developmental delay, learning difficulties, behaviour problems, unsteadiness, abnormal muscle function, tremors and low muscle tone. Unlike Alexander Disease, the unnamed STXBP1 disorder is not terminal but there is no cure.
Even the prevalence of STXBP1 is unknown. According to the US National Library of Medicine, around 200 individuals with the condition have been described in medical literature.
Even the family’s paediatrician had never heard of the disorder before, Ms Simpson, 28, said.
Most of the other children affected by STXBP1 are located in the US and the UK. Ashana is one of just three to have it in Australia. Of those three, she is the youngest.
In every single sufferer though, the disorder develops and manifests differently. “A lot of them don’t walk. The majority of them don’t talk. You might have one that says 20 words, whereas another one can’t even say one. It’s such a broad spectrum,” Ms Simpson said.
The family also has little idea of how the terminal Alexander Disease will affect the little girl in the months and years to come, as the condition is currently laying dormant in her brain.
“We won’t know [if the disease is no longer dormant] unless we have her under MRIs all the time,” Ashana’s mum explained. “But that’s just putting a timeline on her [life].
“We could get an MRI and it might say she’ll have a year. We don’t want that timeline. We rather live in the now and whatever happens, happens.”
At 14 months, Ashana has not developed much more than that of a six-month-old. She cannot crawl or walk and has only just learnt how to sit. She is able to roll around on the floor, and while she is supposed to be completely non-verbal, she is able to say three words.
In addition to her two extremely rare diseases, Ashana has compromised airways which means she can’t be around other children or in public places.
Every week the little girl, who is now 14-months-old, has to see a brain therapist, an occupational therapist, a physiotherapist, a hydrotherapist and an osteotherapist. Of these five therapies she has to have, the National Disability Insurance Scheme covers just two of them, leaving the family more than $400 out of pocket every week.
“On an average week, it’s anywhere between $600 and $700.. for all her therapies,” Ms Simpson said.
The family was initially determined to cover the costs on their own, but after around a year of seeing five specialists a week, their medical bills had exceeded $30,000 and they had to admit that they needed help.
One of Ms Simpson’s friends recently stepped in and set up a GoFundMe to try and ease their financial burden a little bit and take some of the stress out of their future outlook which remains very uncertain due to the nature of both of Ashana’s rare diseases.
“It’s very unknown. It just depends on how the brain gets attacked... Every individual is different,” the 28-year-old mum said. “It’s just a case of watching Ashana and seeing if she regresses and how bad.”
‘We grieve for the normal things’
“I can’t lie to you and say that every day we wake up and find the blessings in all of this. Because honestly, some days are just plain heart-wrenching,” Ms Simpson wrote in a candid piece of writing which was shared with Yahoo News Australia.
“Some days I’m angry. Some days I don't think I can get through it. I dreamed of so much more for my girl. It grieves my soul to see her in pain,... 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 thinking about.
“It tears her dad and I apart inside every day of our lives knowing and seeing how badly she wants to share her thoughts and words that are stuck inside of her.. but can’t.”
The other bitter pill that’s particularly hard to swallow for the mum stems from the fact she was pregnant at the same time as a number of her close friends. While her friends’ babies are growing and already displaying the little people they are rapidly growing into, Ms Simpson can’t help but look at her own baby and mourn the future her daughter won’t get to have.
“It’s nothing that we could ever have prepared for,” she said. “People often say to us that we’re quite strong.. [But] we do have our days where we grieve for the normal things.”
Readers wishing to lend assistance to Ashana and her family, can do so through their GoFundMe page.
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