The zebra print ribbon is the symbol for rare diseases, which are defined as conditions that affect less than one in 4,000 people in Malaysia. — Wikimedia Commons
There may never be a name for nine-year-old Ireland Tolbert’s diagnosis, but one day soon, n-Lorem, an American medical research and development non-profit, hopes to provide a medication that will improve her quality of life.
Shanna Tolbert always wanted to be a mother.
She had a dreamy, healthy pregnancy with Ireland, her first child, and an uneventful labour.
However, when Ireland was born on April 4, 2015, she was taken to the neonatal unit because she had difficulty breathing and appeared to have jitters.
She stayed there for four days while doctors ran multiple tests that yielded no answers.
“A veteran nurse looked at us and said there was something wrong with her, they just didn’t know what,” recalled Shanna, 39.
Seizure attacks
Ireland was a happy baby, but her parents noticed she was hitting her milestones, like smiling and tracking with her eyes, at the tail end of the expected windows.
Then, when Ireland was six months old, everything changed.
While sleeping on Shanna’s chest, Ireland experienced her first generalised tonic-clonic seizure (GTC).
It involves a loss of consciousness and convulsive muscle contractions.
“It was like something out of a movie,” said Shanna, who lives with her family in Dunwoody, Georgia, United States.
“Her entire little body was convulsing. I’d never seen a seizure in real life, but I knew what it was immediately.”
Shanna and her husband, Terry, took Ireland to the emergency room at Children’s Healthcare of Atlanta at Scottish Rite Hospital, but a reason for the seizure was not determined.
Ireland went on to have a few more seizures and subsequent emergency room visits, and when it happened again, just days before her first Thanksgiving, the Tolberts refused to leave the hospital until doctors figured out a cause.
Ireland was admitted and placed on an EEG (electroencephalogram) unit to record the electrical activity in her brain.
Days passed without a stir and then, on Thanksgiving Day, Ireland went into a full GTC.
“It was wild to see the EEG waves explode as her body convulsed,” Shanna said.
“That’s when we got her epilepsy diagnosis.”
A nameless disease
Paediatric neurologist Dr Sumit Verma assessed Ireland’s movements, certain there was something more than epilepsy happening.
Ireland had genetic testing and received a diagnosis right before her first birthday: Her epilepsy is caused by a pathogenic mutation on her CACNAIA gene.
An impairment of this gene affects the flow of calcium ions to the brain, which can cause a range of neurological and developmental disorders.
The nameless disease is neurodegenerative, which means it has no cure, and Ireland could face a gradual decline in her cognitive motor or sensory abilities.
“We were initially told she was the only one in the world, but there have been articles published since about her variant, and now I’m in touch with other parents around the globe who have children like Ireland,” said Shanna, who is a stay-at-home mom to Ireland and younger sister Brooke, six.
Ireland’s seizures have gotten progressively worse.
When they happen, she goes into status epilepticus, which is a life-threatening situation where she can lose consciousness and the seizure will not stop without medical intervention.
The Tolberts rely on a compounded rescue drug to stop her seizures.
The pharmacists informed them that the medicine is so strong, it could make a grown man drop to the floor and stop breathing.
Drugs for life
In 2021, Ireland’s case was submitted by a neurologist and accepted by the n-Lorem Foundation, based in Carlsbad, California, that develops customised drug therapies with US Food and Drug Administration (FDA) guidance for nano-rare individuals.
The medicines are provided to patients for free for their lifetime.
While there are more than 300 million people worldwide who have rare diseases, nano-rare describes a patient with genetic mutations so unique that they share their diagnosis with only one to 30 others in the world.
Due to the rarity, treatment options are often limited, and n-Lorem is focused on drug discovery for those patients.
“We have treated more than 20 patients with various nano-rare diseases so far,” said n-Lorem digital marketing manager Andrew Serrano.
“Many of our patients have been on treatment long enough to evaluate a response to their individualised gene-targeted therapy, and there have been life-changing improvements with the medicines being well tolerated.
“Some of the improvements include reduction in seizures, improved motor skills and better cognition,” he added.
“One patient who couldn’t stand on her own can stand now, and another who couldn’t walk on their own can now take some steps.
"Ireland’s gene-targeted therapy is in progress, and our goal is to one day alleviate her symptoms and improve her quality of life.”
n-Lorem, which was established in 2020, treats nano-rare patients “for free, for life”, according to its website.
“We believe a non-profit approach is the only way to treat nano-rare patients.
"Any commercial scale approach would require that nano-rare patients be charged millions of dollars.”
Ireland’s family is thankful on many levels.
“Before n-Lorem, no one was working on anything for Ireland,” Shanna said.
“There was no scientist, no lab, no clinical trial, no hope of anything coming down the pipeline.
"Now there’s hope. Somebody is trying to help us.
"Someone is paying attention; someone cares and is going to try to figure this out for Ireland.”
Ireland is minimally verbal, has global development delays and an autism diagnosis.
She suffers two to three seizures a month, which take her days to recover.
But on her best days, she sings, enjoys the pool in her backyard and loves to collect party supplies.
Her parents often take her to get balloons just because it makes her happy.
“Our hope is that Ireland will have more days where she feels good and can enjoy life to the fullest and maybe even communicate her needs better,” Shanna said.
“I know there’s so much more in her. I just know it.” By Keri Janton/The Atlanta Journal-Constitution/Tribune News Service
