Sunday, February 28th, 2021

Shopper Client Stories


Suffolk Couple Works to Find a Cure for Rare Disease

by Rob Lauer

Lorelei and Benji Geoghegan

Lorelei and Benji Geoghegan

In early 2016, Susan and Michael Geoghegan were excitedly awaiting the birth of their daughter, Lorelei. “She was born in mid-February at 32 weeks and weighed less than three pounds," Susan recalls. “Other than being a ‘preemie,' we had no idea anything was wrong."

But a month later, the doctors discovered that Lorelei had a rare form of Mitochondrial Disease (Mito) caused by a mutation to her FBXL4 gene.

“The doctors told us this form of Mito is so rare that Lorelei was only the 31st case ever documented anywhere in the world," Susan says. “We were told that most children born with this disease pass between their third and fifth year. Most can't walk, talk, or eat by mouth; they are deprived of vital energy and experience developmental delays. We felt like a train had hit us! We went from being ‘preemie' parents to parents of a child who might not live."

Michael and Susan also learned there was a 25 percent chance of future children having this disease because they both carry a rare recessive gene. Toward the end of June 2019, their son, Benjamin, was born.

“We found out that Benji had Mito during my pregnancy," Susan explains.“Both of our children have the same disease, but both have different issues due to it. Lorelei suffered from brain bleeding early. Benji has a heart condition. When he was born in June 2019, we were told he probably wouldn't live until Christmas. But because doctors learned of Benji's condition prenatally, they were able to put him on a heart medication on the week he was born, and that has saved his life."
Simply put, Mito is a disease that prevents people from having enough energy to function due to the dysfunction of the mitochondria (the energy producers) of the cells. Susan uses the charging of a cellphone to explain how the disease works:

“A cellphone operates just fine when its battery is fully charged, but notice how quickly the energy depletes when the charge gets down to 50 percent. When it comes to the energy that their bodies need to do everything—including the energy to keep their vital organs and brains functioning—my children start each day with only 50 percent of the energy that a healthy child has. By the time Lorelei and Benji are halfway through an average day, their energy reserves are severely depleted. They cannot fight infections well. A common cold can be life-threatening because all their energy goes to fight the virus, depriving their organs and brain-needed energy. Over two years ago, when Lorelei contracted the flu, we rushed her to the hospital. That was our biggest scare since her birth.
Both Lorelei and Benji both have feeding tubes; neither one of them eats by mouth. Recently, Lorelei has begun using a device similar to an iPad to communicate with her parents through “yes" and “no" questions. She looks at the device, it picks up her eye movements, and it will answer yes or no accordingly.

“Because we don't know
how this will play out,
every day is a gift,
and we make each one count."
               —Susan Geoghegan

Susan and Michael Geoghegan with their children, Lorelei and Benji

Susan and Michael Geoghegan with their children, Lorelei and Benji

“Before having a child, we try to imagine our future," Susan says. “No one could ever be prepared for what we have faced and continue to face daily. We have learned to adapt and adjust to life's plot twists, one day at a time. Since Lorelei's birth, I have become a ‘Medical Mom.' I always joke that my experience with medicine before this was watching Grey's Anatomy. Now I can replace a feeding tube in the middle of the night. I've learned how to do all of these things that I never thought I'd do."

“The children visit the hospital, doctors, and therapists more frequently than they visit family and friends," Susan continues. “Developmentally, they are well behind other children their ages. They both struggle from hypotonia (low muscle tone) that holds them back from typical milestones. Between the two of them, they have complications with their brains, hearts, kidneys, eyes, ears, metabolic function, and more. We don't know if Lorelei or Benji will be able to speak, walk, or even sit up on their own."

Shortly after Lorelei was born, the couple compiled a Bucket List of activities that would bring more joy to their daughter's, and later, their son's, life. “Because we don't know how this will play out, every day is a gift, and we make each one count," Susan declares. “I can't take my kids to petting zoos. So, recently we threw a party for them at home, bringing in a pony for pony rides and other animals to pet. Lorelei squealed with delight being able to hold a baby pig. Lorelei has such a wonderful, sweet personality!"

Besides caring for their children, Susan and Michael devote much of their time and energy to raising money for Mito research. “In 2013, Dr. Marni Falk and her staff of scientists at the Children's Hospital of Philadelphia identified the gene that is causing Lorelei and Benjamin's form of Mitochondrial Disease," Susan explains. “Now that Dr. Falk and her team have identified which gene is causing the disease, they are actively pursuing therapies to treat Mitochondrial Disease. We believe that the best chance we have to help them is to focus our fundraising efforts to support Dr. Marni Falk's lab at the Children's Hospital of Philadelphia."

Besides hosting a website through which visitors can make direct contributions to the hospital, the couple also hosts several annual events. “I don't like to run, but I like to sit at the river and float," Susan smiles. “So, four years ago, we began sponsoring an annual ‘Float for a Mito Cure' event. We're also hosting our Wreaths for a Mito Cure fundraiser for the fourth year, offering Fall and Winter/Christmas wreaths, centerpieces, and décor online. One hundred percent of all money raised goes to Dr. Falk's Mito cure research lab at the Children's Hospital of Philadelphia.

“I would invite and encourage people to learn more about this disease that we didn't know existed, but which affects people around the world," Susan concludes. “As a mother, I would love people to support our fundraising efforts because every penny we raise for research puts my kids a penny closer to a cure."