OKLAHOMA CITY – Teams of researchers are working around the clock to find a cure for a group of closely-related genetic disorders which begin with a mutation of genetic code.
The neuromuscular disorders are in the same family as Rett syndrome, which has been getting some national attention after NBC chief foreign correspondent Richard Engel went public with his son’s condition.
NBC News featured Henry Engel in multiple news reports.
Three Oklahoma families are fighting to raise awareness about a condition called MECP2 duplication syndrome, which is similar to Rett.
The mutation which causes the diseases was first discovered by Texas genetic researcher Dr. Huda Zoghbi in 2005.
Logan Shoffner was 2 years old in 2005. He had been diagnosed with autism, but his family knew there was something else going on. When he was 4 years old, geneticists diagnosed Logan with MECP2 duplication syndrome.
Conner Mansalis was born in 2012. His mom, Kate Mansalis, had some genetic testing done during pregnancy because she was in her thirties, but doctors didn’t notice anything alarming at birth. He went home right after he was born.
Brantley Taylor was born in 2014. He was full term, small but healthy when doctors released him from the hospital.
Within a few weeks of birth, Connor and Brantley were showing signs something just wasn’t quite right.
They were floppy, with low muscle tone. The boys couldn’t eat well, had trouble breathing and would choke often out of the blue.
Genetic specialists eventually discovered what was wrong: MECP2 duplication syndrome.
“So, we were learning about it together with the doctors here in Oklahoma,” said Logan’s mom, Emily Shoffner.
“We had no idea what it meant at the time,” said Kate, who lived in California at the time. “Neither did the geneticist who called us.”
“My whole world came crashing down,” said Brantley’s mom, Taryn Taylor.
MECP2 duplication is a rare genetic mix-up.
Their bodies produce too much of a protein essential for brain function.
It’s similar to Rett syndrome in girls, except those patients do not produce enough of the MECP2 protein.
“It’s almost biblical,” Kate said. “Your firstborn son is taken away from you. Of all the things that could happen to you in your life, that is the most devastating punishment.”
MECP2 duplication was discovered by Zoghbi, who named the sister disorder, Rett syndrome, in girls.
MECP2 is a gene. Two copies is cause for alarm because the duplication gives patients double the MECP2 protein which is catastrophically disruptive to the neurons in the brain.
“It’s the most devastating thing knowing that your child isn’t going to have the life you hoped for and planned for,” Taryn said.
The boys don’t talk. Many don’t walk. Some cannot eat on their own. Most have seizures, epilepsy and will never do the things other little boys can do.
Brantley has a feeding tube. He’ll be 4 years old this year, but he still can’t crawl.
He learned to sit up at 2 and a half years old.
Unfortunately, he’s spent a lot of time, in the hospital getting treatment for a variety of MECP2-related challenges.
“We just know time is of the essence for us,” said Brantley’s dad, Bryan Taylor.
“The older he gets, we worry about losing him,” Taryn said.
MECP2 duplication is a spectrum disorder. Some patients, like Connor, can learn to feed themselves.
He’s also a good crawler.
He is 5 years old and working on the strength to stand.
Connor started school the fall.
He is in Miss Robin’s special needs pre-kindergarten class at Washington Irving Elementary.
Intellectual disability is a hallmark of MECP2.
Even though there’s a wide range of physical challenges, all of the boys are non-verbal.
“Oh, I always have hope!” said Connor’s teacher, Robin Mills. “You cannot walk through the doors of this classroom and do what we do everyday if you don’t you have a foundation of hope.”
Hope is taking shape in a lab at Texas Children’s Hospital.
Zoghbi’s research is lighting the way with breakthrough treatments for kids with MECP2 duplication.
She believes she is on the verge of reversing the disease.
Zoghbi has found a way to block the extra copy of the gene in mice, which regulates protein levels and virtually erases MECP2 symptoms after a just a few months of treatment.
“I really do hope that, through the work in our labs and other labs, we can move the needle with therapies for these patients,” Zoghbi said. “Sometimes, from the rarest thing, you can learn the most. And, that’s really important to know.”
“It’s really hopeful,” Kate said. “It’s also really interesting because they already have a drug company waiting for them to get to the right steps so they can take off from there.”
Money buys mice, researchers and time in the lab and progress.
So, MECP2 families around the world have been fundraising to speed up the science.
The first human trials for Zoghbi’s therapy could be just a few years away.
“We always had hope that there was going to be another good moment,” Emily said.
For Logan, there were big happy milestones and seven years of good health.
Logan celebrated his 10th birthday – the one doctors said he would never have.
Also, he later graduated from the 8th grade at Cimarron Middle School in Edmond.
“I think that was the hardest part: to know that all of these therapies that we had been doing would one day possibly not make a difference,” Emily said.
Seizures started when he was 11 years old.
They came fast, and they changed everything.
“When the decline happened, we saw the suffering,” Emily said. “The suffering is what made the difference. We didn’t want to see him suffer, and we knew the suffering wasn’t going to end. It was going to continue, and the suffering was going to get worse.”
Logan got pneumonia and could no longer walk.
For MECP2 patients, they call it regression, when the most devastating symptoms of the disorder set in.
Logan died October 1, 2017 at his home, surrounded by love.
It was the heartbreaking end they all knew was coming.
Logan lost his battle so close to a potential cure.
“We knew being here at home with his family is where he would want to be,” Emily said through tears.
The families are fighting for their kids.
Together with dozens of other MECP2 families around the world they have raised more than $1 million to fund Zoghbi’s work.
“I definitely see more of a future for him, playing with his sister, and running up and down the street and riding his bike,” Taylor said of her son, Brantley. “I think about that.”
The parents are an unshakable army.
They are the voice for a rare group of boys who cannot speak, and they cling to hope a cure will come in time for their sons.