ALBUQUERQUE, New Mexico—Only 6 boys with Duchenne muscular dystrophy (DMD) are known to reside in the state of New Mexico—and 2 of them live under the same roof.
Identical twins Ried and Race Martínez both aspire to be famous chefs; world-renowned restaurateur and TV celebrity chef Gordon Ramsay is their idol. The brothers, who just turned 18 years old, spend much of their time in the kitchen trying out new dishes with the help of an aide, as their mom, Shannon Mosimann, looks on approvingly from the living room.
“When we were 10, we developed an interest in cooking,” Race said. “Back then, we weren’t really cooking—just eggs and boxes of macaroni and cheese. But then we moved to Albuquerque, and in 6th grade we decided to take a cooking class. Now we have lots of recipes for things like seafood and chicken marsala. We also like to grill steaks and burgers.”
New Mexico, the country’s 5th largest state in size, is home to just over 2 million people. Its natural beauty is legendary, but it ranks 48th out of 50 in overall quality of life in US News & World Report’s latest Best States Rankings. More specifically, the state ranks 33rd in healthcare, 45th in infrastructure, and dead last in education.
“We don’t have many resources in New Mexico for children with disabilities,” Shannon told Rare Disease Advisor in a lengthy interview here. “Carrie Tingley Hospital is the only pediatric rehabilitation hospital in the state, but they will not provide ongoing physical therapy for kids like Race and Ried. That’s why they taught me how to do it.”
For the past 10 years, Shannon has worked from home to care for her sons, who have the Dup2 mutation. A longtime employee of Menzies Aviation—an air cargo, ground handling, and fueling conglomerate—she oversees accounting operations for 11 regional airports.
“I’m a single mother and I have a full-time job,” she said. “This is a rare disease and doctors can’t know everything. If you have a child with a rare disease, you have to learn all you can—and I can guarantee you I know more about their diseases than their doctors do.”
A Heartbreaking Diagnosis, Times 2
Shannon, 50, said she learned much of what she knows about DMD online or by attending workshops such as the one CureDuchenne held in Albuquerque in 2019.
“The only resource New Mexico offers is the Medically Fragile Waiver for nursing support, and it took me 6-7 years to get approved,” she said. “It’s a very tedious, hard process to go through. In Colorado, Duchenne is a qualifying illness for the waiver, so you just prove to them that your child has it, and you get the waiver.”
In fact, before the state approved the boys’ waiver, Shannon had private insurance, which paid out “upwards of $250,000 a year” for their care, she said.
Shannon also has an older son, 30-year-old Shyler. Their father “has not been in the picture since the twins were 9 months old,” she said.
Diagnosed in 2012 shortly after Race, nearly 7, broke his femur on the trampoline.
“They had to put a plate and a screw in his leg, and he had to learn how to walk again,” she recalled. “They sent him to a physical therapist, who told me, ‘why don’t you bring his brother?’ As soon as we walked in, the therapist said, ‘I think they both have hip dysplasia.’”
Shortly after that, Shannon moved her family close to the school where her twins would be attending. She remembers them crawling onto the school bus on all fours and running strangely when they played baseball. After consulting with an orthopedic surgeon at the University of New Mexico Hospital who suspected Duchenne, the boys were given a blood test which confirmed the DMD diagnosis.
“Race had been falling. Then Ried started doing it. My whole family thought Ried was doing it just to get attention,” she said. “But then a few days later, the doctor called back and said their [creatine kinase] levels were off the charts, and that they needed to do a muscle biopsy. On Aug. 22, 2012, their birthday, the neurologist called while I was driving, said they got the biopsy back and asked me to pull over.”
But Shannon insisted she wanted to hear it then and now.
“I know what you’re going to say,” she recalled saying through tears. “When they told me the news, I almost hit a train.”
The Importance of Physical Therapy
Almost immediately after diagnosis, Shannon started the boys on corticosteroids as well as aquatic therapy. Besides their regular care in Albuquerque, she takes them once every 6 months to a specialized Duchenne facility in Denver, Colorado.
“Our Duchenne families here are pretty close. For 2 years in a row, before COVID, myself and another mom would throw Christmas parties for all the Duchenne families in New Mexico. We’d lean on each other a lot,” she said. “The boys have a network of fabulous doctors, and their primary care physician has known me since I was 12.”
Something that really helped her sons remain ambulatory for as long as they were, Shannon said, was the fact that she began aquatic therapy very soon after their diagnosis. “We always invited other families, and several of those families still do aquatic therapy until this day,” she said. “The boys liked it because in the water, they were just like everybody else.”
She added: “Race’s wheelchair comes with a stander. He’s braced into the chair, and this therapy helps to strengthen the bones, even though he’s no longer walking. Nobody in New Mexico had ever told us that was important. We didn’t find out until 10 years after their diagnosis. When you get so engulfed in this disease and you’re kind of in survival mode, you’re not thinking about things like this.”
Indeed, even boys who are confined to wheelchairs can benefit greatly from therapy of any kind, said Jennifer Wallace Valdes, director of CureDuchenne’s physical therapy program and owner of the California-based statewide Duchenne Therapy Network.
“Physical therapy is one of the few treatments that’s lifelong for people with Duchenne, and it can help them manage a lot of the impairments or symptoms related to Duchenne weakness and tightness,” she said in a recent interview.
“Once they’ve stopped walking, the need for physical and occupational therapy actually increases, because now the world has become all about what technology they need and what equipment needs to be fitted correctly,” she explained. “They need to be taught how to use it, and how to approach their entire lives and environment in this new situation.”
Steroid Side Effects Outweighed Advantages
At the moment, the boys are on 17 medications; although they’re in relatively good health at the moment, considering everything, Ried suffers from “horrible” acid reflux. They also have a nurse—an expense covered by the state Medicaid waiver—who comes to their residence 5 days a week to help with what’s known in bureaucratic lingo as ADL: activities of daily living.
“The boys love to cook but they can’t cook by themselves, so the nurse helps, also with administering meds and going with us to doctor appointments,” Shannon said. “But it’s really hard. There’s a huge nursing shortage right now, and we go through nurses a lot.”
On the plus side, Race has been off steroids since Christmas, and Ried is on a very small dose.
“The cost-benefit analysis just wasn’t there. The disadvantages outweighed the advantages. They were just a lot more fragile whenever they were on the steroids,” she said, adding that over time, they gained 40 pounds each and developed steroid-induced diabetes as a result. “Their skin wouldn’t heal, and their insides were just ravaged.”
It’s very difficult for Shannon to talk about her sons’ diagnosis and daily lives without tearing up. Yet the boys themselves seem quite matter-of-fact when discussing their own prognosis.
“The first few years after I became wheelchair-bound, I was really depressed and upset about losing the ability to walk. It was just so sudden,” Ried said. “I tried different exercises and would move around while holding on to the couch to regain strength.”
But eventually, Ried said, he accepted his condition and is determined to make the best of it.
Added his twin brother, Race: “If you get emotional, it puts you in a dark place. We just don’t like feeling that way.”