Living with Limb-girdle muscular dystrophy type 2I
Born September 2010 | Marshfield, MA
At first, I thought nothing was going to change—we’ll just do things differently—but that was not the case.
Meghan, Noah's mother
Noah displays his incredible concentration. His eyes are covered by the wrap-around screen of a virtual reality headset as he stands in front of his TV, one controller in each hand, playing Minecraft while simultaneously catching up with his best friend, Brody. The two exchange remarks as they build and craft a winning strategy, while talking about school, life, and the people they know.
He and Brody have been gaming together for the last hour—an adapted way to keep in touch across a distance neither of them chose. The two have been best friends since kindergarten, when Brody first approached Noah, sitting at the letter table, and asked to be his friend. For years they have been inseparable, going everywhere together, but the past year-and-a-half has been full of radical change. The COVID pandemic shut down their school and forced the two boys to have a more virtual friendship. And that was before the big move.
The two finish their on-screen construction for the day and say goodbye through the microphone but as natural as can be. With the game console off, Noah picks up a favorite manga, or Japanese comic book, to read for a while. Like most boys his age, moving to a new house in a new town comes with additional challenges on top of missing his best bud. Noah is starting at a new school in September, which brings a host of unknowns, both in terms of his learning and his social life.
However, the advantages of his new home are plain to see. Noah walks from his bedroom over to the stairway and looks down the staircase to the first floor below. In his old house, getting up and down the stairs was challenging and evoked a feeling in Noah that he loathed—one closely tied to the word, “help.” He hated asking for help when he got tired, when his legs refused to do what he wanted, or when he fell, scraping his knees or injuring himself further.
Now, getting from his room to other parts of the house or the front door is easier after the installation of a stair lift that traces the turning contours of the flight-and-a-half of stairs, which make for a fun ride. Noah lifts up the inside armrest and slides himself into the padded chair. With the push of a button, he slowly begins descending, following the path of the robust, wooden handrail, rounding each corner until he finds himself safely on the white-tiled floor.
Noah lives with limb-girdle muscular dystrophy type 2I (LGMD2I), a rare genetic illness that leads to a slow loss of muscle strength centered initially on the hips and shoulders. The autosomal recessive condition is based on an inherited mutation to the FKRP gene and ranges dramatically in terms of severity and onset of symptoms. “LGMD2I is so complex and specific to each individual,” says Meghan, Noah’s mother. “Our doctors didn't have a real prognosis for us, except to say that because he has a compound heterozygous mutation, he is likely to have a more severe disease-course.”
Noah and his family have been fighting the progression of limb-girdle since he was diagnosed at five, as it increasingly hampers his mobility and triggers complications in vital organ systems. “To know that it affects his life span—that he may (and did) develop cardiomyopathy—was very frightening. We also felt helpless with no treatments or therapies to engage in.”
For Noah, limb-girdle was a real source of frustration, which initiated the move. “There was no space for my wheelchair,” he says. “I needed more floor space.” Noah has been using a wheelchair, part-time, for three years—since first grade—but it was always tricky. Tom and Meghan instantly recognized the limitations of their house: the narrow hallways and door-jambs didn’t allow Noah to pass through or make turns easily. Still, there were things Noah loved about his old home. “We had a nice patio for his wheelchair,” says Tom, his father. The patio came replete with a hot tub, and soaking was enjoyable and beneficial for Noah’s muscles.
However, the limitations were too numerous to ignore and too costly to amend, so Meghan and Tom turned to the housing market. “We really lucked out,” says Tom, his Boston accent instantly recognizable. He and Meghan both grew up in the beach town of Hull, a small peninsula jutting from the south shore of Massachusetts Bay. After Tom’s father passed away suddenly, his mother decided to sell her house in Hull and move in with Tom and Meghan. By combining financial assets, together they were able to purchase their new house, in Marshfield, amazingly in only a month’s time.
The new house is significantly larger, and purchasing it was a major step for the whole family, which includes Emily and Hannah, Noah's two sisters. Wider spaces for maneuvering a wheelchair is only one of its many advantages. “Noah has his own bathroom now,” says Meghan, “with a cut-out tub. It’s not safe for him to step over the side of the tub anymore.” She and Tom are in the process of hiring a contractor to start construction of a ramp for the front door. Investing in accessibility is a visible sign of Tom and Meghan’s dedication to their son, proactively combating the progression of limb-girdle at home. “Down the road, if there is a need for respiratory equipment in his room, there is space for that,” says Meghan, alluding to some of the more serious complications potentially on the horizon.
Adjusting to changes has always taken time, but in terms of Noah’s mobility needs, the moment couldn’t be better. After waiting years, Noah’s insurance recently approved him for a full power wheelchair. “He’s been using one we bought off the internet,” says Tom. “The chair is coming really soon. Just two more weeks!” Paired with the family’s accessible minivan, this will secure many years of fun traveling and experiencing the world.
Noah’s relationship with his changing abilities and his wheelchair are understandably lukewarm. Outside, a large backyard gives ample space for Noah to hang out with his other two besties, Bella and Teddy, the family’s dogs. He picks up a toy and tosses it to Bella, but true to form, Teddy swoops in and steals it away. His level of play and engagement with the dogs provides a daily measure of his strength. There are times when Noah can run alongside them, rambunctious as a puppy himself, and there are days he stays inside, tossing toys from the couch or using his wheelchair to take them on walks.
As much as maintaining his physical abilities is empowering, they do carry drawbacks. Band-Aids adorn Noah’s knees and shins—visible evidence of his frequent stumbles. While he remains ambulatory, his muscles tire easily and at unexpected moments, give way. However, the joy of playing is not something he and his family are ready to give up without a fight.
Cuts, scrapes, and bruises have often been the most visible sign of limb-girdle for Noah. As a toddler he fell a lot. When he was in preschool the first concerns about his health were raised by the family’s physician. “I remember bringing him to his physical exam when he was four,” recounts Meghan. “She said, ‘If it was another child, I’d be concerned about the bruises.’” The doctors found Noah’s creatine kinase (CK) numbers were high—the first measurable clue to his condition. “That opened our eyes, that this wasn’t something that was going to even out in the long run.”
The road to a definitive diagnosis was full of uncertainties, and there were many moments when Tom and Meghan could have decided to opt out and stop testing. Noah tested negative for Duchenne muscular dystrophy, which was a relief, but also served as rationale to stop investigating further—and doctors assured them not to worry. It was probably fine. “We had to push,” said Meghan. Her determination fed her basic understanding of science—garnered from working in a research lab—and she became a mom on a mission. She and Tom refused to give up, knowing it would greatly benefit Noah to understand exactly what was going on.
Over the next two years, Noah underwent genetic tests to try and locate the issue. By the time Noah was diagnosed with LGMD2I in first grade, his mobility was already suffering. A year before he had pushed Brody around in a wheelchair after a broken bone, but now the situation had reversed itself and Noah opted to be the sitter. He got his first wheelchair then, but few of his classmates could understand what was happening. “It was confusing when he would be in a wheelchair and then just stand up,” recalls Tom. “Other kids would ask us constantly if Noah just broke his leg,” adds Meghan. She and Tom had to accept the knowledge that there was no cure for limb-girdle, and limited therapies.
“In the beginning, we didn’t know anything,” says Meghan. “We didn’t know anybody either.” After joining a LGMD2I Facebook group, the couple learned that there was a conference for families like theirs, specifically for children with Noah’s subtype. That year they traveled to Iowa to attend the event and met many people who influenced their perspective and breathed hope into Noah’s situation, as well as a dose of realism. “The biggest takeaway for Noah was seeing other people successfully living full, adventurous lives!” says Meghan. “We met people of all ages and stages of LGMD2I who were so generous: sharing tips of managing self-care, advocating for themselves within schools, work, and the medical community.”
Accepting the realities of limb-girdle meant reimagining the types of activities that the family would do together, utilizing current assistive technologies, and seeking out the best doctors in the field. “At first, I thought nothing was going to change. We’ll just do things differently—but that was not the case,” says Meghan. Noah began visiting a neuromuscular specialist who has been crucial—recommending therapies and interventions. When Noah’s muscle endurance began rapidly declining, the doctor recommended Noah go on steroids. “It can be controversial with 2I families,” says Meghan. However, based on Noah’s progression and buoyed by optimism, he and his parents decided to give it a try. “It’s been such a blessing for us so far.” Steroids have seemingly gifted Noah back the ability to move in a way he hasn’t for years.
“I can run!” exclaims Noah, chasing Teddy throughout the backyard. Seeing Noah like this fills everyone with joy. Inversely, there are moments when Noah’s frustration at not being able to do tasks he once could is hard to watch and difficult to make sense of. Despite the impact the disease has made on the family, it has not changed their hopes for the future. “I think our goal for Noah is the same as for his sisters,” says Meghan. “For him to do whatever he wants to do and to succeed at it.”
With Noah smiling eagerly in the back, Tom parks the adapted minivan along the bay. Once the sliding doors are fully open, a ramp descends to the pavement and Noah, with tacklebox in hand, rolls out. Tom grabs the fishing rods from the back and hustles to catch up with Noah who is already headed toward the docks. “Slow down buddy,” he protests as the two, now together, process down onto a dock and begin to assess the current. On the not-too-distant horizon, the river delta meets the tidal waters of the ocean. Brackish water ebbs and flows with the tides, bringing in the possibility of a lucrative catch—if you know what to look for.
Tom helps Noah straighten out his reel and baits a lure. With both arms, Noah heaves and casts the tackle out into the water and begins reeling it back toward him. Fishing is a new hobby that he and Noah are quickly learning. “We haven’t caught much yet,” says Tom. However, the possibility of a big fish swimming just below the surface has its allure to Noah. The sound of tugging lures mixes with the distant calls of waterfowl as father and son sit quietly waiting for a bite. Today’s attempt does not yield any catch, but Noah and his dad are happy just the same. It’s moments and memories like this that will stay with Noah as he grows, and as his body changes, reminding him that his family will support him no matter what.