Having been featured in the Liverpool ECHO last year, Sarah Steel, a mother from Southport whose daughter, Isla, suffers from a rare metabolic disorder, is now renewing her daughter’s appeal in an effort to generate funding for scientists to explore gene therapy trials.
In 2018, after discovering little Isla’s hands were twitching, Doctors at Alder Hey Hospital conducted tests and she was diagnosed with Non-ketotic hyperglycinemia (NKH), an extremely rare metabolic disorder that affects only 1 in 76,000.
Isla is thought to be one of approximately 15 children in the UK to be surviving with the condition. Globally, the numbers reach a mere 500.
Sarah said: “Isla keeps thriving and beating the odds. She is a very happy cheeky little girl and is the strongest soul I have ever met.
“She’s been through so much. An experience most people will never go through in a lifetime, yet every day she is wonderful and will beat this.”
Children who suffer from the disorder can experience seizures and developmental issues, with some never passing the milestone of smiling.
Sarah recently launched a £1 appeal for the research through her charity, the Isla Rose Foundation, which has achieved registered status and has raised nearly £5000. The official Instagram page has gained 5000 followers.
Lucas Culp was diagnosed with NKH, nonketotic hyperglicinemia, when he was 3 days old.
“When he was born, we really had no idea other than the fact that he was really sleepy and he didn’t really want to eat, and he didn’t want to open his eyes and he wasn’t crying a whole lot like he should’ve been,” said Chancee Culp, Lucas’ mother.
The rare genetic disorder is often terminal in newborns and many don’t make it home from the hospital. But Lucas had other plans.
“When he was 4 days old, we were told we wouldn’t be taking him home. We would have to be making a quality of life decision, is the way that they put it. And we refused to accept that. We told them they were wrong and the next day, he opened his eyes,” Chancee said.
Lucas is now 2 years old, but functions as a 5-month-old.
“He recognizes voices and faces and we do believe he recognizes some words and things like that but he can’t sit up. He can’t support his own head. He can’t feed himself,” Chancee explained. “He can’t walk or talk or do the things that a typical 2-year-old should be able to do.”
NKH doesn’t allow the body to break down amino acids glycine, and when it builds up, more problems will occur.
“It causes seizures, brain death. It overstimulates a part in his brain that is completely responsible for memory and learning, which causes him to be severely globally delayed,” Chancee explained.
Lucas’ family already practices social distancing and avid hand-washing, as the common cold has sent him to the hospital. Because of COVID-19, they are not able to hold their normal public events to raise money for the Lucas John Foundation, which primarily focuses on fundraising for gene replacement therapy research.
“The only way to cure any kind of genetic disease is through gene replacement therapy,” Chancee said.
Only about 500 kids in the world have NKH, and Lucas is one of two in Arizona.
“People just don’t realize, there’s no money in this. There’s no money backing this. This is all family-backed. We have to raise money ourselves. There’s not many corporations or research funds because there’s only 500 kids in the world with it,” said Brandon Culp, Lucas’ father.
In replace of a public event to raise money, the Lucas John Foundation is hosting a walkathon called Zoom the Room this Saturday, May 16, at 9 a.m.
“Jump on the Zoom call, there’s a registration fee, a t-shirt, just like any charity walk you would go and do on a Saturday morning,” Chancee explained. “We’re going to have some exercise people and some nutritionists and one of the researchers for the gene replacement therapy made us a video so to kind of tell our participants what we’re doing.”
The walking is optional, but there is also a charity auction and 100% of the proceeds will go to the Lucas John Foundation.
“Whatever you want to do, it’s mainly just congregating on a Zoom and trying to get as many people on there to have fun, support a good cause and have a good time, that’s really what it’s about,” Brandon said. “What we really need is awareness. I mean, I think everything else will take care of itself as long as there’s awareness.”
ZoomWalkathon.com Video Conferencing
Lucas John Foundation is Actively Working to Save
Children with Orphaned Rare Diseases FOR IMMEDIATE RELEASE
May 2020 (Mesa, Arizona) – The family of Brandon and Chancee Culp in Mesa, Arizona, is fighting for the life of their two-year-old son, Lucas John Culp. He was born in 2018 with a rare disease, Non-ketotic hyperglycinemia (NKH). It is an inborn metabolic disorder caused by a defect in the enzyme system that breaks down the amino acid glycine, resulting in an accumulation of glycine in the body’s tissues and fluids. This creates neurological conditions, including seizures, vision damage, and lack of muscle control.
A rare disease is also known as an orphan disease because drug companies have not taken an interest in developing treatments for them, due to it not affecting enough of the population to make a profit. Children with NKH can experience daily seizures up to 100s per day and require 24-hour care. Lucas is fortunate to have six family members assisting around the clock to keep him safe and comfortable. In the search for a cure, the Culp family took the matter into their own hands and started a foundation to help Lucas and many other families across the nation. With Covid-19 fundraising has been impacted deeply. Determined to keep the research going the Culp family created a virtual website platform to host walkathons for nonprofits to use, Zoomwalkathon.com hosting Zoom the Room for NKH campaigns we are able to host distance fundraisers. Using Zoom technology, it allows for a virtual fundraiser while honoring social distancing requirements in every state. There are currently three NKH families actively running Zoom Walkathons across the country and more will be signing up. The first walkathon is scheduled for Lucas John Foundation this Saturday, May 16th at 9 am Arizona time. This fundraiser is global with people signed up all over the United States and the United Kingdom with 100+ in attendance.
Since January 2019, the Lucas John Foundation has been Raising Awareness for Rare Disease and Gene Therapy research– and the foundation is in continual fundraising mode for the cure. Due to the rarity of the condition, all the funding for research falls into the laps of the families of these babies.
At the core of the foundation are these essential
Fundraising for rare disease research.
Fundraising for gene replacement therapy.
Offer scholarships for families
Care kits for NICU at Phoenix Children’s Hospital.
Offer financial support to families with children diagnosed with rare diseases.
When Rare isn’t so Rare There are approximately 7,000 known rare diseasesin the United States, with an estimated 25-30 million total Americans living with rare genetic diseases. While specific conditions can be isolated, the total number of people with an orphan disease is overwhelming.
Rare diseases/Orphan disease Brandon and Chancee Culp, the parents of Lucas John, are actively making a difference in the lives of many who struggle with life-threatening diseases. Through the Lucas John Foundation, there is support, community, and hope.
Quote from the Physician:
“The goal is to protect Lucas’s brain until the cure is available. Gene therapy is close and could be a cure for Lucas.”
– Lucas’s Neurologist, Phoenix, AZ
The Cure: Gene Replacement Therapy is the answer and the cure for many children and adults living with an orphan disease in the United States. Each advancement in gene therapy for any disease widens the field for all the other rare diseases.