Will Woleben, of McKinney, Texas, was born a healthy and happy baby who hit all his developmental milestones on time.
But around age two, he started stumbling and falling, and would sometimes collapse on the floor unable to move.
After four months of visiting various doctors and undergoing a battery of tests, Will was diagnosed with Leigh’s syndrome, a rare, inherited neurodegenerative disorder.
The disease will eventually rob Will, now six, of his speech, his mobility and will likely kill him before he’s a teenager.
Now, Will’s last hope to slow down the advances of the disorder may be a new clinical trial – if his family can raise $300,000.
Will Woleben, six (left and right), from McKinney, Texas, was diagnosed with Leigh syndrome, a rare, inherited neurodegenerative disorder, in April 2014. A genetic defect doesn’t allow mitochondria in cells to convert food to energy and, as a result, cells in the body begin to die
Will was born a healthy and happy baby who hit all his developmental milestones on time. But around age two, he started stumbling and falling, and would sometimes collapse on the floor unable to move. Pictured: Will and his parents
Leigh’s syndrome is a severe neurological disorder caused by a mutation in one of more than 75 genes, according to the Genetics Home Reference.
Genes associated with Leigh’s syndrome are found in the mitochondria, which is known as the ‘powerhouse of the cell’ and is like a battery that provides energy to the cells.
The mitochondria typically converts food to energy but the genetic defect prevents them from doing that and, as a result, cells in the body begin to die.
The onset of the disease can begin anywhere from three months to two years old and includes a loss of motor skills such head control and poor sucking ability.
Gradually, the nervous system degenerates and children have a progressive loss of mental and movement abilities. Intellectual disability may diminish as well.
The disease affects approximately one in 40,000 children in the US, but those diagnosed typically don’t live past the age of 10.
Many die at birth and a large percentage die by age three due to respiratory problems.
It was this horrifying condition that led to the creation of the world’s first three-parent baby, a revolutionary technique that combines the genes of three people.
Dr John Zhang, who led the medical team in New York City, told Daily Mail Online in September 2016 that the mother of the baby carried the genes for the disease in her mitochondria.
She and her husband had already lost two children to Leigh’s syndrome: the first at age six and the second at eight months old.
The couple visited Dr Zhang and his team, who were working on innovations in fertility, at the New Hope Fertility Clinic.
The team fertilized the egg of the woman with the sperm of her husband to create an embryo and did the same to the eggs of a donor.
Scientists extracted the future parents’ DNA and then did the same thing with the fertilized egg from the female donor. All that was left behind in the second egg was the mitochondrial DNA.
Then the DNA of the couple trying to have a baby is transferred to the donor embryo that has the healthy mitochondria. The embryos carrying the DNA of three people are then put into the womb of the woman who wants to get pregnant.
The onset of Leigh syndrome can begin anywhere from three months to two years old and includes a loss of mental and motor skills. Those diagnosed typically don’t live past the age of 10. Pictured: Will (left and right)
Doug and Kasey visited Will’s pediatrician, a gastroenterologist, an endocrinologist, and a neurologist and ordered a battery of tests but they all determined nothing was wrong with the toddler (pictured)
Currently, there is no cure for Leigh syndrome and most treatments are meant to control symptoms, according to the United Mitochondrial Disease Foundation.
Treatments mostly involve variations of vitamin and supplement therapies, although there are experimental drugs being tested in some clinical trials.
After several instances where Will collapsed on the floor, unable to move, his parents Doug and Kasey knew something was wrong.
They visited Will’s pediatrician, a gastroenterologist, an endocrinologist, and a neurologist and ordered a battery of tests – but they all determined nothing was wrong with the toddler.
Kasey recalled was an episode in April 2014 when she was nursing Will’s younger sister Lauren when she saw Will, then age two, trip over the rug.
‘He said: “I’m okay, Mom. I just can’t get up right now”,’ Kasey told The Dallas Morning News.
She called her husband at work and asked him to come home and watch Lauren while she took Will to the emergency room.
Doctors at Children’s Medical Center Plano performed a CT scan and then sent the mother and son over to Children’s Medical Center Dallas for an MRI.
A few days later, doctors told Doug and Kasey that Will has Leigh’s syndrome and that there was no cure.
‘Our lives were shattered,’ Doug told The Dallas Morning News. ‘One minute we had all these hopes and dreams for our child, and the next minute we’ve been given a death sentence.’
Just a few months after his diagnosis, his parents began to see signs of the disease appear.
Will’s leg and arm muscles began to weaken, his speech began to slur and he needed a feeding tube after being unable to swallow
Just a few months after Will’s diagnosis, his parents began to see signs of the disease appear. Will’s leg and arm muscles began to weaken, his speech began to slur and he needed a feeding tube after being unable to swallow. Pictured: Will
There is currently a potential gene therapy clinical trial that will involve inserting functioning copies of Will’s defective gene into viruses that have been cleared of their harmful effects into cerebrospinal fluid in hopes they will produce proteins that Will is missing. Pictured: Will
The Wolebens now need to raise $300,000 to launch animal studies and, if those are successful, between $1 million and $3 million for human trials. Pictured: Will, right, with his sister, Lauren
Will is currently in speech therapy and physical therapy to help with his slurred speech and strengthen his arm muscles.
His parents pored over medical journals and contacted every researcher they could for experimental treatments – hitting several dead ends.
There was one clinical trial testing a drug compound that seemed to help Will, but then the trial was canceled. Executives told Doug and Kasey there wasn’t enough data to prove that it worked.
Just when the couple felt as if they were out of options, their neurologist referred them to Dr Steven Gray, who was working on gene therapies to cure fatal childhood diseases at the University of North Carolina Gene Therapy Center.
Dr Gray told The Dallas Morning News that after Will was approved as a candidate, he told the parents that he and a team would be creating a custom gene therapy for Will.
The gene therapy will involve inserting functioning copies of Will’s defective gene into viruses that have been cleared of their harmful effects and can replicate themselves.
The viruses will then be injected into the cerebrospinal fluid. The hope is that the multiple functioning copies of the gene can repair cells in the brain that have been damaged due to the disorder and start to produce proteins that Will is missing.
Dr Gray made sure to explain to Doug and Kasey that it was an experiment and not cure, but they were still on board.
The Wolebens now need to raise $300,000 to launch animal studies and, if those are successful, between $1 million and $3 million for human trials.
They have paired up with two other families with children with Leigh Syndrome and have formed a foundation to raise money for the trials.
Currently, $125,000 has been raised out of their $300,000 goal.