Clinic takes on a muscle-wasting disease
Third-grader Connor Cagle was nervous about his echocardiogram. He wiggled in the reclining chair in the exam room at the Neurology & Neuromuscular Care Center in Denton while pediatric cardiologist Dr. Reenu Eapen put gel on a small probe.
The ultrasound of his heart wouldn’t hurt, Eapen promised. Connor, 8, wasn’t so sure. After his diagnosis last June of Duchenne muscular dystrophy, a muscle-wasting disease, doctors’ offices became places for needle pokes and anxiety.
Connor looked at his mom, Kathryn, with panic in his eyes.
“It’s just jelly,” Cagle said.
“Oh, jelly,” Connor said. “Can I touch it?”
Eapen placed the probe in front of Connor so he could feel the cool gel on his finger. Both the pediatric cardiologist and Connor’s parents needed him to trust the procedure so they could see if he developed fibrosis, or scarring, around his heart.
The cardiology appointment is one of several Connor had recently as part of the newly opened CureDuchenne clinic. Funded by the nonprofit CureDuchenne and housed in Dr. Diana Castro’s neuromuscular practice, the clinic is one of the first in Texas to give patients a one-stop shop to see a cast of specialists, regardless of insurance status.
Duchenne is cruel and has no cure. Most of Castro’s patients will die in their late 20s or early 30s, and the fight to access a better quality of life through medications and specialized equipment is a difficult and expensive one.
“The problem is the lack of understanding. It’s almost like people don’t want to see it,” Castro said.
Castro knows the disease progression better than most. The genetic disease typically affects boys, although girls can be carriers and have minor symptoms. Boys start showing signs of Duchenne in early childhood. Occasional leg weakness turns into difficulty walking, then difficulty moving at all. It affects every muscle, including the heart and muscles around the lungs, eventually making even coughing and breathing difficult.
Around 20,000 children are diagnosed with the condition each year, according to the Muscular Dystrophy Association.
In the grand scheme of Duchenne, Connor is fairing pretty well. Right now he can still walk, and even run sometimes, although he gets fatigued easily. But the disease eventually will cause his muscles to atrophy, making tasks such as sitting up or feeding himself impossible.
The Cagles drove an hour-and-a-half from Weatherford to see Castro. Connor began his series of “Are we there yet?” questions 10 minutes into the trip.
Kathryn Cagle doesn’t mind the drive. It’s a lot closer than Massachusetts, where the family thought they’d have to go to get an appointment with a Duchenne specialist.
The family planned fundraisers and bake sales to pay for Connor’s care before they found Castro’s clinic.
“Anything to get his care that he’s going to need because the goal is to keep him ambulatory,” Kathryn said. “We want him with us as long as possible.”
A near exit
Castro nearly left medicine in April 2021. She said 14 years of working at a major hospital burned her out. Appointment times got shorter despite her patients’ needs remaining the same.
“That’s the problem with the U.S. medical system,” Castro said. “I didn’t go into medicine to have a McDonald’s as a clinic. I want to have a patient relationship and it’s not allowing you to anymore.”
Castro’s husband, pediatric intensive care specialist Dr. Shai Manzuri, made a last-ditch attempt to convince his wife to stay in the field. What if they started their own practice?
With a $500,000 bank loan and a $900,000 CureDuchenne grant, the Neurology & Neuromuscular Care Center became reality. The couple hand-picked their staff, including a fulltime physical therapist and a group of three pediatric cardiologists who rotate shifts on CureDuchenne clinic days.
The private nonprofit center sees patients with a range of conditions, including spinal muscular atrophy and Becker muscular dystrophy, a form of muscular dystrophy that’s typically less severe than Duchenne.
Each Wednesday night, practice manager and nurse Siera Gravo sends the staff a detailed choreography for the next day. Three patients come in the morning, arriving at 9, 9:15 and 9:30, and rotate through cardiology, physical therapy, nutrition and visits with Castro. The cycle begins again with a new set of three patients at 1 p.m.
Seeing only six patients per day is Castro’s dream come true. It’s also a potential fiscal nightmare.
Castro doesn’t turn patients away, even if they are uninsured or underinsured. That’s a common occurrence in Texas, which has the highest uninsured rate of any state.
The three-year CureDuchenne grant helps, but it’s not enough to cover everything.
“We need people to get interested, to donate. Anybody that can give us a hand to try and help these people long term,” Castro said.
Castro also leans on CureDuchenne’s massive nationwide network of families.
“There’s a mom who lives in Oklahoma who is super involved with this stuff,” Castro told Margaret Hale, who lives in Denton with her 13-year-old son, Brandon Hale. “If you don’t mind, I’ll put her in contact with you.”
Brandon should qualify for Social Security because of his Duchenne diagnosis, but the process of proving he has a disability can take months. Discouraged by repeated denials to get him on Medicaid, Margaret Hale, a teacher in the Lewisville Independent School District, assumed she’d face a similar battle with Social Security.
Castro cut the grandopening ribbon for the CureDuchenne clinic in early March, and already she’s planning how to expand the services it offers.
She wants a coordinator on staff to help families navigate the health insurance system and a pulmonologist so patients don’t have to go to yet another office to take care of their lung health.
She’s making progress on the latter: Manzuri will soon provide some pulmonology services to the clinic’s patients.
End for Duchenne
“Do you have any anxiety?” Castro asked Brandon. He hung his head.
“Oh, he’s anxious all the time,” his mom said.
Brandon’s worries differ from most teenagers’. Sitting in the Star Wars-decorated exam room — Castro picked the theme — Brandon said he’s anxious about things getting worse. He’s still able to do some of his favorite things, such as play Minecraft and go see Monster Jam when the show comes to town.
But Duchenne dictates a majority of Brandon’s day. Before breakfast, he takes Metformin and Pepcid, then vitamins and supplements. He’s been experiencing some nausea, he told Castro at his most recent visit, so he’ll be adding a proton-pump inhibitor to his morning routine.
He takes another dose of Metformin and lisinopril, a heart medication, before bed. Every Friday, Saturday and Sunday, he takes steroids that help stave off the worst of the disease, although the medication comes with its own unpleasant side effects.
Most of her teenage Duchenne patients have some level of anxiety or depression, Castro said. They know what’s coming and, though quality of life for Duchenne patients is rapidly improving, there’s still no way to stop it entirely.
Connor hasn’t hit that stage yet, but Kathryn Cagle spent nights awake crying and yelling at the world after her son was diagnosed. She originally thought the worst-case scenario for his symptoms — falling, difficulty getting up from a seated position — would be a brain tumor. She was wrong.
“There’s really nothing we can offer at the end stage, but we can prolong their life and delay when they’re starting to see symptoms,” Castro said.
Just a decade ago, most patients wouldn’t make it to their 20s. Preventive medications gave many an additional 10 years. Castro sees some adult patients now. Her goal is to eventually see patients in their 40s, 50s and 60s.
“Delaying how this disease affects the muscle is a way to say, well, we don’t know what treatments are coming in the future,” Castro said.
“One day, hopefully, I’m not going to have a job anymore.”