Ducote family working to bring awareness and raise funds for SURF1 research
One day at a time. That’s how parents Andre and Elizabeth Ducote are living with their two daughters Emma and Caroline, after Caroline was diagnosed with a rare, terminal mitochondrial disease, surf1 Leigh syndrome (LS).
“We live life with Caroline one day at a time,” Andre said. “It’s hard.”
The Madison family faced a bleak prognosis with no cure in sight after years of fighting for even a diagnosis.
“There is nothing worse than being told there is no cure, there is no prognosis,” Andre said. “You know, when we go to a doctor’s appointment, when we hear there is no change, that’s a good day.”
However, a few weeks ago, Andre and Elizabeth found that there is research toward a cure for LS being conducted at UT Southwestern Medical Center in Dallas.
A non-profit foundation, Cure SURF1 was established to raise money for the research. Caroline is one of the children featured on the foundation’s site.
“We’re still like, ‘Is this real?’ ” Elizabeth said. “You know, because someone is finally doing something. This could be it. This could be the cure.”
Andre and Elizabeth are working to spread awareness of the disease and raise funds for the possibly life-saving clinical trial for their daughter.
“It was really hard when we first got her diagnosis, because we didn’t know what was going to happen to her,” Elizabeth said. “And we still don’t,” Andre added.
The first fundraising opportunity will be at Panera Bread in Ridgeland on December 6 from 4 to 8 p.m. A percentage of the profit will be donated to Cure Surf1.
However, patrons must bring in the flier for Panera Bread to donate.
Caroline is an eighth-grader at Madison Ridgeland Academy. Her parents describe her as a smart child with a quick wit.
She loves art, music, watching shows on Netflix and cooking. Andre said she already has her Christmas music playing and a tree up in her bedroom.
Elizabeth said because of Caroline’s physical limitations, she isn’t able to do as much.
“She was born healthy and normal,” Elizabeth said of Caroline.
Caroline was born October 2004 and developed normally until she was 3 or 4 years old, when she fell below the fifth percentile in height and weight.
The Ducotes’ pediatrician referred them to an endocrinologist who initially diagnosed her with a growth hormone deficiency.
“We were basically a signature away from starting treatment with that when he suddenly passed away,” Elizabeth said.
After the doctor’s sudden death, the family began their search for answers all over again.
“At that point, she was having some motor skill regression,” Elizabeth said. “Kind of subtle things were happening.”
The pediatrician then referred them to a neurologist.
“He suspected a mitochondrial disease and recommended genetic testing,” she said.
He also ordered an MRI, which showed lesions on the basal ganglia.
“That is the part of the brain that controls motor skills,” Elizabeth added. “We then were referred to a geneticist in Atlanta.”
The test results, which were complete in late 2014 when Caroline was 10, indicated a mutation in the SURF1 gene/Leigh Syndrome.
Leigh syndrome is a severe neurodegenerative disease, which is characterized by a progressive loss of mental and movement abilities.
This eventually leads to vision, renal, cardiac and respiratory complications, typically resulting in death in a few years.
Individuals with LS have a serious deficiency in mitochondrial energy production.
“Basically, what her issue is that the surf1 gene is responsible for a protein that is involved in the energy production in the cell,” Elizabeth said. “So, when that gene is mutated, then it inhibits the energy production of the cell. Basically, all of your organs are deprived of the energy they need, especially the ones that use the most like your brain, heart, muscles, eyes.”
The genetic testing confirmed the diagnosis.
“That mitochondrial disease leads to the cell death or destruction, and that’s what causes the lesions in the brain, and the lesions in the brain causes the motor skill regression,” she said.
The life expectancy for children with LS is around 10 years old. Caroline turned 14 this year.
“We’re not really sure why,” Elizabeth said.
The disease progression has not been as quick and aggressive in Caroline. Her geneticist said that she is an “atypical case.”
“At this point, she can walk, but she struggles,” Elizabeth said. “She lacks some muscle tone, which obviously makes it difficult for her to walk. Everything is kind of in slow motion.”
Andre said her fine motor skills also present a problem.
“She can feed herself, but for her to use a knife and fork at the same time, she really struggles,” Andre said.
Her height and weight are the most obvious effect the disease has had on Caroline, as she is four feet nine inches and weighs 72 pounds at 14 years old.
She relies heavily on the elevator at school, as she is unable to take on long distances. Andre and Elizabeth are grateful to the school for working with them to make it possible for her to make it through the school day.
Andre said they arranged for all of her classes to be near the elevator so that she could navigate her schedule easily.
Andre said the school is supportive of her.
“Well, the elevator was out one day,” Andre said. “We didn’t even know it until she went to pick her up.”
“She goes, ‘Funny thing happened today,’” Elizabeth added. “When I asked her about it, she said Coach White took me piggy-back to all my classes because the elevators were broken. She has to go up and down for all her classes, and he took her to all her classes.”
“It’s a brown out for her,” he said. “She has an energy brown out. For some kids, it’s a full-blown black out. When you have a full-blown black out, you die because you don’t have enough energy.”
Despite the effects of the disease, Caroline’s parents say she has maintained a positive attitude and rarely complains.
“People who are healthy, when we get sick and good cells die, they are replaced by a good cell,” Andre said. “But someone with a disease like this, theirs are replaced with a mutated cell. That’s how the disease is degenerative. It’s kind of like cancer in that some people can have cancer and respond to treatment and do well. Some people don’t respond well to whatever treatment you can do.”
Their treatment options are limited, but they make sure to keep Caroline up on her vitamins, physical therapy, as much exercise as she can do and always keep her hydrated.
“It’s all about keeping those good cells healthy,” Andre said.
The cost for a clinical trial for gene therapy will be $3.3 million.
Gene therapy is an approach to treating genetic diseases, where a one-time treatment can provide a lifetime of benefits.
Instead of treating just the symptoms, gene therapy fixes the disease at the source by replacing the defective gene with a healthy copy.
First, a healthy copy of the patient’s defective gene is loaded into a virus that has been stripped of its own DNA.
Trillions of viruses, each containing a healthy copy of the gene, are injected into the patient’s spinal fluid.
The viruses bind to cells in the patient’s spinal cord and brain and deliver healthy genes to the cells’ nucleus.
So far, the foundation has raised around $500,000.
“We told them that we’re all in as far as fundraising,” Elizabeth said.
Andre said the problem with fundraising for this disease is difficult because no one has heard of LS. So, a large portion of their mission is to raise awareness in addition to funds for the clinical trial.
“What you have to do is look beyond Leigh syndrome,” he said. “There are a lot of different diseases that are genetic, that are because of a mutated gene. If we could develop a protocol that works for one, why wouldn’t it work for others?”
The Ducotes are not sure what the result of the gene therapy will be, but they are hopeful for a cure.
To read more about the clinical trial or to donate directly to the foundation to aid the gene therapy trial, visit the foundation’s website at www.curesurf1.org.
