Born June 2014 | Torrance, CA
Living with MPS
“We have a lot of hope for these coming years with gene therapy advancing. It's our biggest hope really.”
Noah looks both ways before darting across the street to where his shiny new BMW i-8 convertible is parked curbside. Moments later, he’s cruising the block, smiling brightly. These are the moments of pure joy—the morning sun shining on Noah’s face, wind blowing through his hair, his grin growing larger. Noah demonstrates his car's tight handling capabilities, at four miles-per-hour, swerving around his parents Aywon and Krystal, who watch as their little boy enjoys a playful morning in the cul-de-sac near their home.
“He loves cars of all types,” says Aywon. “He likes to just get up and go.” This Christmas brought the miniature, battery-powered version of a BMW into Noah's life, a gift he is certainly excited about. “He's a big ball of energy right now,” says Krystal. “He never wants to stop.” Without warning Noah jumps out of the car and runs right at her. She reacts quickly and scoops him into her arms as best she can and kisses him before handing him to Aywon. Together, this young couple has shared the load—between having a newly-diagnosed son with Hunter Syndrome (MPS II), finding suitable daycare, working long hours, going to school, and preparing for a second child—all in a synthesis of balance and care for one another.
Aywon had just returned from a year-long deployment with the US Coast Guard, when he felt a strong desire to start a family with his wife, Krystal, whom he had married just months before his departure. “In our generation, more and more people are waiting until their thirties to have children, but I felt ready.” Krystal recalls how she felt after the initial ask. “I wanted to wait. I still wanted to do things,” she says. They decided to go on a trip together, backpacking around Europe for a month. Half-way through the trip Krystal started to feel nauseous. “By the end of the trip we kind of figured out she was pregnant,” says Aywon.
Krystal's pregnancy went smoothly, and baby Noah was born with little incident. “We were really excited,” recalls Krystal. Maternity leave was short and within four months she had to go back to work as a hospital OR nurse. Aywon, had returned from another deployment, and was able to stay home and take care of Noah. “That's when he started getting sick,” says Krystal. “He kept getting a runny nose. At around six months, he started to have ear infections. He probably had six or seven ear infections before his first birthday.”
The troubling signs continued. “One day I noticed a lump under his belly,” says Aywon. “We found out he had a bilateral inguinal hernia. That was his first surgery.” Noah's difficulties would continue. “He had PE tubes implanted and an adenoidectomy at the same time,” says Krystal, going through the list of issues and operations in Noah's early life. “He started snoring louder, and had trouble breathing at night. He would sweat a lot while sleeping.” Noah also seemed to have a limited range of motion in his shoulders. Aywon and Krystal were both concerned but didn't understand how all the symptoms were related. Around his second birthday, Noah's doctors referred them to a neurologist and a geneticist. “I had no inkling,” says Krystal. “I didn't think of it as a big deal,” she remembers about making the initial appointment.
“C R A S H!” Noah interrupts with a thunderous sound on his drum set. He swings his two drumsticks overhead and in true rock-n-roll fashion brings them down simultaneously on the cymbals. Everyone's ears are ringing. Noah turns and laughs, knowing he's startled the room. Aywon takes Krystal's hand and the two let out a little chuckle. The room is strewn with Matchbox cars and trucks, vibrantly colored bouncy balls and all the necessary, different sized baskets and bins to keeps Noah’s world of toys and exploration partially contained alongside other household items. Noah is bouncing to his own beat and plays another loud sound on the drum to call attention. “My brother is the musician,” Aywon says with the same bright eyes as his son. “He’s the one that buys Noah all of his instruments.”
Upon visiting both the neurologist and the geneticist, the crucial elements of a diagnosis began to take shape. Both specialists tested for MPS and specifically Hunter Syndrome. “We looked it up and we were like, wow,” says Aywon. “It was a tough pill to swallow... Those were the scariest days of our lives.” The wait for test results was two months and they feared the worst. “I think we were just kind of in shock,” remembers Krystal. “They told us not to Google any of it.” The two spent the next several weeks in a state of trepidation.
The diagnosis came in a three-way phone call in the middle of a workday. “That's when we finally got the lab results,” says Aywon. The call had confirmed their fears. “We both came home. We just kind of broke down.” “I felt that I was grieving for him already,” says Krystal. Aywon gets up and grabs tissues for her. Their attention to each other's needs is constant, and unwavering, much as is their care for Noah. It is this compassionate vigilance that has become the backbone; the underpinning of their family. It is indicative of their collective strength and their willpower to fight for their son.
To complicate matters, about a month prior to Noah’s definitive diagnosis, Aywon and Krystal learned that they were pregnant again. They were bombarded with fear and questions about what to do. Being an X-linked, recessive condition, the likelihood of their baby being born symptomatic with Hunter Syndrome was 50% if they were to have a boy, and almost non-existent if they were to have a girl, although she may be a gene-carrier. They cast their fears aside and sought out answers. “I was at seven weeks when we told the geneticist,” says Krystal. They decided to do amniocentesis, an early test to determine the basic chromosomal makeup of their child. “That was a tough time, before we got the results.” Krystal and Aywon held strong together, awaiting the news. “Then, we found out we’re having a girl,” says Krystal, a look of relief on her face. Their prayers had been answered, and Noah couldn’t be happier about the prospect a new baby sister. He knows there’s a baby coming. “He’ll say hi to the baby and kiss my belly,” says Krystal.
Without much extended family in the area, Aywon and Krystal looked towards the MPS Society and the Hunter Syndrome Foundation for support. Through these organizations, the couple learned about current therapies for MPS, ongoing clinical trials, as well as emerging gene therapies that could benefit Noah in the future. “I was learning everything and anything I could,” says Aywon. “I created a whole binder.” Aywon and Krystal harnessed their collective ability to understand biological science and educated themselves. With knowledge came hope. “I was kind of reassured with the clinical trials that were going on,” says Aywon. “I heard about gene therapy too. It was my own kind of therapy, doing this research.”
Noah was soon able to receive his first ERT injections, and a new routine took shape for the family. “Mondays, Tuesdays, and Thursdays he's in daycare,” explains Krystal. “Wednesdays he has physical therapy, occupational therapy, and speech therapy. Friday he gets his infusion, which starts at 8:30am. We take turns going with him.” The nonstop schedule is not getting any easier as the couple plans a move back to northern California, to be closer to family. “I'm also in the middle of a career change,” explains Aywon, who is returning to school to study physical therapy.
Despite these circumstances, the family still finds time to unwind and enjoy the southern California sunshine together. Running ahead, Noah leads his family in a chase down the Manhattan Beach pier. He is giddy with excitement, as he has found his favorite set of friends. “He absolutely loves dogs,” says Krystal. With each leashed puppy, Noah claps his hands together fervently, hardly able to contain his elation. They reciprocate with wagging tails and wet noses. “He loves all animals,” says Aywon. Even the seagulls, swarming the pier for dropped food, capture Noah’s imagination as he bounds after them.
On the beach Noah rolls about, flinging fistfulls of sand in every direction. “He likes to get dirty,” says Aywon. “He thinks it's hilarious.” Looking to the horizon, the family sees a story yet untold for their son. “I've learned not to look at him like his fate is a final,” says Krystal. “He's fine. He's still growing—still meeting milestones.”
Aywon has taken up the fight for Noah’s life and hopes to raise awareness and funds for future MPS II treatments. Using social media, he is developing a platform for change, harnessing his prowess with web-design, photo, and video to educate, advocate, and fundraise. He started a fitness-based, crowdfunding campaign to raise $50,000 for gene therapy research. “For each increment people donate, I have to do various exercise activities,” he explains. “Ten sit-ups for every $10 donation, 20 push-up for $20, a 3km run for $50… [all the way up to] a full marathon for $10,000.” Visit facebook.com/helpnoahnguyen to track his progress, spread the word, and support his cause.
Through their care and for each other and their son, Aywon and Krystal are laying the groundwork for a brighter future. They look towards the development of new treatment options and express appreciation for the all the hard work researchers are doing to benefit boys like Noah. It is this aspiration that helps to ease their daily struggle. “I have a lot of hope for these coming years with advancements in gene therapy,” says Aywon. “It's our biggest hope really. If not a cure, then at least a better treatment. Being a rare disease, it’s not something that everyone looks into,” says Aywon. “It’s really from the kindness of their hearts,” Aywon adds. And that’s what makes all the difference.