THOMPSON’S STATION, TN (WSMV) - Melissa Hogan reached for the medicine she gives her son each week. She takes time to mix it, prepare the supplies to administer it, then accesses the port on his chest just below his right shoulder.
It’s a process that was done by a trained nurse for many years. Now, Hogan has become the expert.
“Case, come get your medicine,” she says to her 14-year-old son who’s been battling a degenerative genetic disease known as Hunter Syndrome his whole life. It was diagnosed when Case was two years old.
“That is $15,000 worth of medicine and we use it every week,” said Hogan as she begins the infusion of Elaprase, made by Takeda.
Case patiently watches a show on his tablet while she carefully begins the treatment. He’ll wear a backpack for four hours while the drug is slowly infused into his system.
Hunter Syndrome almost always occurs in boys and prevents the body from breaking down sugar molecules. When these molecules build up over time, they can cause damage that affects physical and mental development. The life expectancy for young men dealing with the genetic disease is between 10 and 20 years. Case has already lived four years past that.
“It’s about, maybe 2,000 children and adults in the world (currently dealing with the disease,” said Hogan. “It’s considered an ultra-rare disease. They say it about one in 167,000 live male births.”
The rarity of the disease also means a scarcity of pharmaceutical treatment to help Case battle the effects.
At the age of 3, he became one of 65 people participating in a clinical trial through the University of North Carolina that required them to regularly fly to North Carolina. Case would receive a reformulation of the same drug his mother now gives weekly through his port, but during these hospital treatments, the reformulated drug would be injected through a lumbar puncture directly into his spinal fluid.
“We were traveling every month to North Carolina for nine days a month,” said Hogan, who was still running a corporate law practice at the time while also being a wife and mother to two older kids. She closed the practice in 2012 to focus on her family full time. Her law license is still active.
“I felt like I was a rubber band being pulled in like eight directions and I was gonna snap,” said Hogan. “’Snap’ not in the way of ‘angry,’ but snap (meaning) ‘I was gonna fall apart.’”
Melissa Hogan waits with her son Case at the hospital on the day of her book release.
Hogan recalls the challenge in trying to make the necessary trips feel more like a normal routine. She would bring rewards for Case and then bring back rewards for her two other sons who stayed at home.
Hogan said at first Case was a calm participant, but eventually he began violently fighting the treatments.
“It’s really conflicting inside, because you see your child fighting, and you know inside you just want to go home and curl up on the couch and love them and hug them, but you know they need it,” said Hogan.
She began searching for resources and therapists to help her son, but could only find dead ends.
She eventually found a parent who taught her about the specific issue Case was having: medical trauma.
Hogan began blogging about the problems she was helping Case work through and eventually began receiving messages from other parents who had the same problem.
By 2012, she had created an eBook complete with resources and go-to methods to manage the issue of medical trauma in kids and she knew she wanted to write a book on the subject.
It’s an area of expertise that Dr. Meghan Marsac has been researching for years. Marsac is a pediatric psychologist with a particular interest in medical trauma in children. She is an associate professor at the University of Kentucky School of Medicine in Lexington, KY.
Hogan reached out to Marsac and asked if she would consider co-authoring a book that would serve as a handbook for parents and medical practitioners alike. The purpose would be to help manage and prevent medical trauma in children.
“I think, as parents, we’re not trained on how to help our kids through their medical conditions, particularly the ones that are really scary and really long,” said Marsac. “It’s really hard as a parent anytime you see your child in pain for any reason and sometimes the really important medical procedures result in pain.”
The pair started writing early in 2018, maintaining a strict writing schedule. They would communicate by phone and Zoom meetings because the women live about 250 miles apart.
“If (medical trauma) is just talked about among psychologists, we’re not going to be able to reach as many families and kids,” said Marsac. “So, we’re really trying to lead the charge here to broaden the discussion and have more impact with our kids and families.”
Case Hogan holds a copy of his mother's recently released book during a clinical trial visit to the hospital.
The women completed the book by the end of 2020. Afraid of the Doctor, published by Rowman & Littlefield, was released July 16.
Because of the pandemic, any plans they had to meet face-to-face were canceled. To this day, the women have never met each other in person.
“I’m just really excited that I got to bring together the experience that I’ve had as an expert working with families as well as Melissa’s lived experience,” said Marsac. “It really makes this a unique book that is practical and based in science.”
The book’s release came without fanfare for Hogan, who spent the morning at Nashville’s Monroe Carell Jr. Children’s Hospital at Vanderbilt. After Case participated in the Phase 1 clinical trial for Elaprase at UNC, he continued receiving the treatments as part of an extension study that was administered much closer to home.
“This is dose 137 (for Case),” said Hogan from inside a waiting room at Vanderbilt. “We’ve done this every four weeks for 11 years, and of course, as luck would have it, we’re at the hospital for Case’s clinical trial visit on the day the book comes out.”
Hogan said Case’s condition improved for several years thanks to the clinical trial drug he’s been using. She was concerned the improvement was never noted appropriately in the clinical trial or the extension because they weren’t reflecting the unique skills, challenges and symptoms in the individual child.
In response, three years ago she created four patient outcome measures to capture what parents were seeing in their children. She ran a research study, captured the data and presented it to the FDA. The study was published in 2020 in the medical journal Molecular Genetics and Metabolism Reports.
Hogan now consults for pharmaceutical companies to help them understand rare diseases and design more effective clinical trials to capture outcomes more accurately in patients.
Hogan also started a foundation to fund research that will hopefully find a cure for Hunter Syndrome. On the homepage for Project Alive, the tagline reads, “give kids with Hunter Syndrome the chance to grown up.” The organization has raised well over $1 million to fund research since its inception.
Despite Case’s steady improvement in battling Hunter Syndrome, his mom said they’ve noticed a deterioration in Case within the last year.
“I feel like there’s still a lot more life,” said Hogan. “His journey is not done, and hopefully it won’t be done for us for a long time.”