5 days ago
Only on News 19: Family shares experience with daughter's rare genetic disorder
MADISON, Ala. (WHNT) — As a parent, you only want what's best for your child, but when things don't go as planned, it can be defeating. That's the case for a family from Madison and their daughter, who's living with an extremely rare genetic disorder.
Maddox was born completely healthy, while his sister Emery is fighting an extremely rare genetic mutation.
Judge denies landowners' request to be removed from Belle Mina quarry lawsuit
'Getting that diagnosis was devastating,' said Valerie Morris. 'We were led to believe for a while that there was no diagnosis from multiple specialists, and then to get a diagnosis like this.'
Morris is Emery's mom. She said Emery was born with what's known as KIF1A-associated neurological disorder.
'Her twin brother does not have it, and her little brother does not have it either,' she said. 'So her genetic mutation was called de-novo, which is just a spontaneous, just a random thing that happened.'
It's so rare; she's the only one of three people in Alabama with the disorder. There are only around 550 people worldwide with the diagnosis.
Huntsville woman recalls her first concert – 'the infamous and legendary' Ozzy Osbourne at VBC
'She faces speech delays, cognitive delays, issues with gross motor skills, fine motor skills, and then of course, her vision issues too,' said Morris.
Valerie said she pictured a full life for her daughter.
'You feel like you're losing the life that you thought your child would have, and so now it's not only just losing that, but having to accept this new life that is just going to be so challenging for her,' she said.
No matter the challenges, nothing can stop Emery… especially with the help of her other half, Maddox.
'She's very social and very friendly,' she said. 'She's a happy girl. She loves going to school. She goes to our local preschool, and she actually is in a class with her brother.'
That's not to say it's been easy. Her whole life, Emery has worked hard for every ounce of progress.
📲 to stay updated on the go. 📧 to have news sent to your inbox.
'She never complains,' said Valerie. 'She goes to all of her therapy appointments and just tries so hard, and she just has the sweetest personality.'
Although now, three years after the family received her diagnosis, they have a glimmer of hope they didn't think existed.
'They create this medication that usually takes like 18 months to process, and it's literally made specifically for Emery and her genetic makeup,' she said.
The medicine comes from a California nonprofit called 'n-Lorem.'
The founder, Stan Crooke, said they personalize each patient's prescription. No injection is a 'one size fits all.'
'Once we know the genetic cause and we know the sequence of where the problem is, we can create a genetic medicine that uses the genetic code as a zip code to target that specific problem,' said Crooke.
'n-Lorem' took Emery's case in March of 2024.
So far, the nonprofit has successfully treated 11 KIF1A patients across the country, with astonishing results… some can even walk again.
'It's amazing,' said Valerie. 'I just can't believe that there are people out there who wanted to even start this nonprofit. They're doing such special and life-changing work for all these families, so to have someone who's giving options to these people who have no other way is just it's so special.'
There's no guarantee how successful the medication could be, but while they wait, the family said they are grateful and taking life day by day, all while clinging to the hope of a 'more healed' tomorrow.
'She deserves every single little inch and tiny milestone that she reaches, and we just celebrate it big time,' Valerie said.
Emery's family said her condition has not regressed.
'n-Lorem' is currently crafting her medication, and the family hopes it will be ready for her to try early next year.
Copyright 2025 Nexstar Media, Inc. All rights reserved. This material may not be published, broadcast, rewritten, or redistributed.
Solve the daily Crossword
