"My little boy is one of just 15 people in the world with his condition - we're hoping he'll make history"
- 8 months ago
A toddler is one of just 12 living people in the world to be diagnosed with a genetic condition so rare it has only recently been given a name.
Mum Kristen Morar, 33, says son Augustine, one, began losing his hearing aged three months.
He stopped eating - which doctors wrongly put down to teething - became profoundly deaf, was hospitalised several times and could barely move.
Kristen and husband Moses, 38, pushed for further genetic tests which eventually saw Augustine diagnosed with Mitchell syndrome.
The newly diagnosed neurological illness is caused by a rare genetic mutation which attacks the nerves which control hearing, movement and vision.
There is no available cure for the condition recently named after Mitchell Herndon, the first person to be diagnosed, who died in October 2019, aged 19.
Augustine's family, from Orange County, California, have been working closely with the charity set up in Mitchell's name.
The infant is currently taking vitamin B2 and he can now sit up, eat and crawl against the odds.
Mum-of-three Kristen, a counsellor, said: "At the time, the hospital were only aware of three patients with the disorder, who had all passed away.
"That was incredibly hard to hear.
"At his sickest he couldn't eat, hold his head up or even roll over.
"But when I got in touch with the charity, I spoke to three other parents with children living with the condition.
"They said a certain vitamin seemed to be helping their children and it seems to help Augustine too.
"His labs have normalised and it seems to be having a huge impact - he can sit up, eat and crawl which doctors never expected him to do.
"But there's no research so we don't know what will happen - we have nobody to guide us because the condition is so rare.
"Nobody with the condition has lived past 30 but all we know is he's doing so well - he could be the first in history."
Augustine was born perfectly healthy on May 27, 2022.
But at three months old, the parents took him on his first holiday to Europe.
During a layover in Madrid, Spain, he had an episode of hypoglycaemia - low blood sugar despite having been recently fed - and ended up hospitalised.
He was given medication but the doctors thought it would be a one-off.
But over the next few months it got worse - he began to lose his hearing and he also had difficulty moving.
At six months, the tot stopped eating altogether - but at first doctors said it was just down to teething.
But an MRI scan showed deterioration of the protective covering of nerve fibres in his brain - known as demyelination.
Kristen and Moses "begged" for further genetic testing, which revealed a genetic mutation of a gene called ACOX1.
He was diagnosed with Mitchell syndrome aged seven months.
"I just pushed it to the back of my mind because they first told me he was going to die and there was nothing they can do," said Kristen.
"It wasn't until weeks later that I started asking more questions."
Mum Kristen Morar, 33, says son Augustine, one, began losing his hearing aged three months.
He stopped eating - which doctors wrongly put down to teething - became profoundly deaf, was hospitalised several times and could barely move.
Kristen and husband Moses, 38, pushed for further genetic tests which eventually saw Augustine diagnosed with Mitchell syndrome.
The newly diagnosed neurological illness is caused by a rare genetic mutation which attacks the nerves which control hearing, movement and vision.
There is no available cure for the condition recently named after Mitchell Herndon, the first person to be diagnosed, who died in October 2019, aged 19.
Augustine's family, from Orange County, California, have been working closely with the charity set up in Mitchell's name.
The infant is currently taking vitamin B2 and he can now sit up, eat and crawl against the odds.
Mum-of-three Kristen, a counsellor, said: "At the time, the hospital were only aware of three patients with the disorder, who had all passed away.
"That was incredibly hard to hear.
"At his sickest he couldn't eat, hold his head up or even roll over.
"But when I got in touch with the charity, I spoke to three other parents with children living with the condition.
"They said a certain vitamin seemed to be helping their children and it seems to help Augustine too.
"His labs have normalised and it seems to be having a huge impact - he can sit up, eat and crawl which doctors never expected him to do.
"But there's no research so we don't know what will happen - we have nobody to guide us because the condition is so rare.
"Nobody with the condition has lived past 30 but all we know is he's doing so well - he could be the first in history."
Augustine was born perfectly healthy on May 27, 2022.
But at three months old, the parents took him on his first holiday to Europe.
During a layover in Madrid, Spain, he had an episode of hypoglycaemia - low blood sugar despite having been recently fed - and ended up hospitalised.
He was given medication but the doctors thought it would be a one-off.
But over the next few months it got worse - he began to lose his hearing and he also had difficulty moving.
At six months, the tot stopped eating altogether - but at first doctors said it was just down to teething.
But an MRI scan showed deterioration of the protective covering of nerve fibres in his brain - known as demyelination.
Kristen and Moses "begged" for further genetic testing, which revealed a genetic mutation of a gene called ACOX1.
He was diagnosed with Mitchell syndrome aged seven months.
"I just pushed it to the back of my mind because they first told me he was going to die and there was nothing they can do," said Kristen.
"It wasn't until weeks later that I started asking more questions."