When Jeff Allen’s son Lucas was 8 months old, he still had trouble sitting upright on his own, a childhood milestone typically reached around 6 months of age.
“That was like the first thing we noticed,” Allen said. “He kept falling…We were so nervous. We put pads all over the house to protect him.”
As the months passed, Allen and his wife Jennifer began to notice a delay in Lucas’ speaking ability and decided to seek help. After her pediatrician ruled out vision and hearing problems, she contacted a neurologist who suggested magnetic resonance spectroscopy (MRS). Spectroscopy measures metabolic levels in the brain.
“MRS showed that creatine was stuck at the blood-brain barrier, and that’s when we got the diagnosis,” Allen said.
Little Lucas is tested for creatine transporter deficiency (CTD) with his mother, Jennifer Allen.
Provided by: Jeffrey Allen
According to RareDiseases.org, creatine is essential for maintaining high energy levels needed for muscle and brain development. Creatine transporter deficiency (CTD) is a rare genetic disease caused by changes in the creatine transporter gene. This mutation blocks the transport of creatine to the brain and muscles.
All humans naturally produce creatine. However, the creatine cannot reach its final destination in Lucas’ body.
“There’s no way to get around the blood-brain barrier, so his brain doesn’t get the energy it needs to develop,” Allen said.
As a result, the entire body is injured. Symptoms include difficulty growing and gaining weight, delayed motor development, intellectual disability, autistic behavior and seizures, according to the National Organization for Rare Disorders.
“Researchers have been working on this for 20 years and they still haven’t cracked the code. There’s no solution. There’s no cure, so it was a bittersweet diagnosis,” Allen said.
In 2020, Mr. Allen joined the board of directors of the Creatine Deficiency Association. The association is a parent-led patient advocacy organization that provides major funding for CTD research around the world, separate from government grants. The organization has created a friendly competition among researchers to explore gene therapy options for CTD. In 2021, the group began investing in fellowships to accelerate research, and Allen estimates it has invested $400,000 worth of research funding over the past four years.
In 2025, Allen launched Race for a Cure, asking institutions to submit their best plans for CTD treatments to have something included in clinical trials.
“We just announced funding for two schools, one from Stanford University and one from Johns Hopkins University,” Allen said. “Purdue is doing a great job. There’s some great work going on in some places in Canada and Italy with some types of drug repurposing and drug discovery. So something is happening.”
rare hope
“These children have this rare, very rare disease,” Dr. Thomas Montine, a professor of pathology at Stanford University, said in an interview. “They’re getting creatine in their diet, and the cells in their body can produce it, but they can’t get it into the energy-intensive cells, like the neurons in the brain or the muscles in the heart. So this is a very intensive problem that they have.”
Montine is researching experimental treatments for CTD in mice. He said potential treatments for CTD could open new avenues for treating patients with Alzheimer’s and Parkinson’s diseases.
“Our research has always addressed the decline in cognitive function as the brain ages,” he said. “But our hypothesis is that children with extremely rare and intensive disorders like Lucas’s reveal vulnerabilities in the human brain that contribute to much more prevalent brain diseases that occur at other stages of life. If we are successful in developing treatments that work for Lucas, perhaps we will also be successful in developing treatments that may be beneficial for older adults who are trying to preserve brain function.”
In the 25 years that CTD research has been underway, a variety of experimental approaches have been explored, including gene editing, gene therapy, and the small molecules Montine is working on, or “classical drugs,” as he calls them.
“The approach we’re taking is that we’re trying to develop molecules that are like Trojan horses,” Montine said. “We want to take a creatine molecule and disguise it so that the cell doesn’t recognize it as creatine. The cell recognizes it as something else, so it gets taken into the cell by a different mechanism… We no longer need a creatine transporter to get this masked creatine into the cell. And thanks to the method we designed, once the creatine gets into the cell, there are enzymes that clean it up and release creatine.”
As with most experimental research, focusing on mice first allows for trial and error, but Montine is cautiously optimistic about what elucidating a treatment will mean for this young patient population.
“These are children. They’re going to have to endure this for a very long time,” he said. “So whatever we make has to be clean.”
Raise awareness through MrBeast
In 2024, Allen applied for season 1 of Amazon Prime Video’s reality competition show Beast Game, inspired by the Netflix series Squid Game and produced by YouTuber Mr. Beast. The prize was $5 million, which Allen believed would not only ensure future care for his family, but could also make a difference in the search for a cure for Lucas.
Allen said when she found out she had been chosen for the show, she was excited to be able to shine a light on her son’s incurable disease.
“I told Jen that my goal was to tell Lucas’ story. And she looked at me and said, ‘Damn! If I’m going to quit, I better win this thing.’ And that was the energy I needed.”
Competing in the “Beast Game” means Allen goes 40 days without calling or contacting his family, which is a psychological game in itself, especially for parents of children with incurable illnesses.
“It’s hard being away from your family and not being able to talk to them. This was the longest period of my life that I went without talking to Jen,” Allen said. “But the game was very mental. The game tries to put you in situations that break you or make you feel stressed. And for me, it was always like asking yourself, ‘Why am I here? What is my purpose?'”
Jeff Allen celebrates winning $10 million on MrBeast’s “Beast Games.”
By: Beast Games | Jeffrey Allen
The stakes were raised in the final round. MrBeast doubled the prize to $10 million on a coin toss that Allen’s friend won. Allen got the whole pot.
In that moment of complete shock, he realized that he could help raise awareness not only for CTD, but for many rare diseases.
After the $10 million was transferred to his bank account, he quickly realized he needed the help of an advisor. He got on the phone with his accountant and tax professional to figure out how to keep what was most important to him. He wanted to not only ensure that his family was taken care of, but also to be able to fund research into CTD.
rack 4 rare
On March 2nd, Allen will embark on his second “Ruck4Rare” event. Allen said “rucking” is walking with a large, heavy backpack or vest on your back. He plans to complete five marathons in five days across North Carolina to symbolically carry the weight of children with CTD. Together, Allen and another participant will be carrying nearly 60 pounds, which is about the same weight as Lucas. Other participants carry weight packs for other children with CTD.
Lucas, right, and his brother Jack at home.
Provided by: Jeffrey Allen
“Last year I drove across California,” he said. “This year, we are carrying Lucas’ burden, and that means not only the burden he carries every day with CTD, but the burden his family carries. Our aim is to raise awareness of rare diseases, but also to raise money for research.”
“It’s really hard to know that even if we find a cure for CTD, it might not help Lucas as much as it would help children born in 2030,” he said. “But we have to do it.”
Allen said she wants Lucas, who turns 9 this year, to feel like his life has a purpose.
“When he and I find each other’s eyes and we connect, he looks at me and says, ‘It’s okay, Dad,'” Allen said. “He’s happy. He’s in the moment most of the time. But when he looks at me like that, I feel like he’s really saying to me, ‘Hey, help me do what I want to do here.'”
If you would like to learn more about CTD or donate to the second annual Ruck4Rare mission, please visit https://creatineinfo.org.
