Parent seeks to bring awareness to Hurler Syndrome

Six-year-old Jaylin Quesenberry doesn't let the dual diagnoses of Hurler Syndrome and autism slow her down. She attends classes at Mebane's E.M. Yoder Elementary School, loves playing ball and enjoying hugs and laughs, and in the words of her mother, Anne Quesenberry, is "just a happy little girl." 

Miracles live among us. Sometimes we just have to take the time to observe them and take notice of their simple beauty.  

We have plenty of miracles surrounding us here in Mebane, especially in the spring. 

Whether it’s the beautiful gardens and flowers in local yards, the school children preparing for summer by playing in yards and cul-de-sacs, or the happy, mostly orderly nature of our little town, we have so many miracles to enjoy and be thankful for here. 

We enjoy low crime, low taxes, and are surrounded by friendly, happy people. In their own ways, each of these are little miracles. 

There’s a happy, friendly little girl living in Mebane who is also a miracle. Six-year-old Jaylin Quesenberry loves to dance, play with her parents, and enjoy big hugs from friends and family members. 

Jaylin is a miracle because she’s a happy, thriving little girl living within a very challenging diagnosis, which will make much of her life a series of significant challenges. 

In the fall of 2014, Jaylin was diagnosed with Hurler Syndrome, a mucopolysaccharidosis type 1 (MPS I) condition. Hurler’s Syndrome occurs in just one out of every 100,000 births, making it one of the rarest genetic conditions in the world. 

“We found out when she was 21 months old through a geneticist,” Jaylin’s mother, Anne Quesenberry, said in a recent interview. “We contacted Duke, and we were down here at Duke within less than a month. We came down in September 2014. It’s a rare genetic disease. It’s very, very rare.” 

According to researchers from Northwestern University, MPS I is a recessive inherited disease caused by a deficiency of alpha-L-iduronidase, an enzyme required for the degradation of the glycosaminoglycans (GAGs) dermatan and heparin sulfate, due to mutations in the IDUA gene. 

“It affects her muscles,” her mother explained. “She’s missing an enzyme.”

The chronic and progressive accumulation of GAGs in the lysosomes of cells throughout the body leads to multi-organ dysfunction and considerable morbidity. 

If untreated, patients with Hurler syndrome experience progressive deterioration of the musculoskeletal, cardiorespiratory, and central nervous systems, leading to death before the age of ten.

Fortunately for Jaylin, however, her parents were willing to provide her a chance for a longer and more productive life. 

“The life expectancy without a stem cell transplant is about ten years of age,” Jaylin’s mother explained. “So we chose to come to Duke and do a core blood stem cell transplant. Jaylin had that done when she was 23 months old, in November 2014.” 

Thanks to the stem cell transplant she had four years ago, Jaylin’s life expectancy is much higher now.  

That’s the good news. 

“Jaylin is doing great with it. Awesome,” Quesenberry said of her daughter’s post-transplant prognosis. “She had her yearly studies in March, and her donor cells are greater than 98 percent. There are some kids (with Hurler Syndrome) that live to 30 or 40 (following the transplant). Her enzyme level is normal now, since the transplant.”

The bad news is that Jaylin will continue for the rest of her life to deal with a series of considerable physical ailments. 

Symptoms of Jaylin’s condition include stiffness in her joints and muscles, associated pain and fatigue, along with a wide range of developmental complications. 

“As far as the MPS - Hurler Syndrome - she has the stiffness in her fingers. She has knock knees. She may have to have surgery in her hands, and in two years she’ll have to have plates put in to straighten her knees. It’s a lot of joint pain. Some developmental, with her being diagnosed later (than most children),” her mother said. “A lot of states now are doing the screening at birth. They are fighting to get that done. If all states could do that (it would improve outcomes). Jaylin found out a lot later than some of the other kids (getting diagnosed). Some of the other kids (getting diagnosed with Hurler Syndrome) are five months, and having transplants.”

In 2017, Jaylin was diagnosed with autism. As rare as it is for a child to be born with Hurler Syndrome, it is significantly rarer that one would also suffer from autism. She is currently in an autism classroom at Mebane’s E.M. Yoder Elementary School. Jaylin receives speech therapy and occupational therapy at Yoder Elementary, along with ABA therapy (applied behavioral) for her autism, working on behavioral issues, at home.

“Actually, her bone marrow doctor only knows of one other MPS child who (also) has (autism),” Mrs. Quesenberry said. “It’s a lot of one-on-one (instruction at school). But she does very well in school. She loves school. She does very good with it.” 

Jaylin is non-verbal. She cannot tell her mom when her tummy aches, or when she has a headache. She cannot articulate happy moments, or confide in scary ones. 

But through all that, Jaylin’s mother instinctively knows what needs to be done to help her daughter. 

“With me being her mom, I know her. I know her so well, that I know what she wants and what she needs,” she said. “She uses a communication device, and she does very well with that. She knows some sign language.” 

Despite her series of ailments, Jaylin is a happy go lucky child. She inspires everyone who meets her with her smiles, her hugs, and her loving spirit. 

“She’s full of life and happy. Just so happy,” her mother said. “She’s just a wonderful, happy little girl. She touches everyone she meets. She’s just special.”

Wednesday, May 15 is International MPS Awareness Day around the world. Anne Quesenberry wants the people of Mebane to know about this challenging condition that her daughter is dealing with. 

She wants the community to know that there is hope. That is there a way to push through the ailments, through the physical challenges, through the tears. 

There is hope through patience. There is hope through understanding. And most of all, there is hope through love. 

“I want to bring awareness for Jaylin, and the other kids who have Hurler Syndrome,” she said. “I’ve had a lot of people tell me that God only chooses special people to raise a special child. But sometimes you have to wonder. Why Jaylin? I just want to bring awareness about MPS. She may act different, although I don’t think she looks different than any other child. I just want more people to know about this disease.”

We could all learn a thing or two from this six-year-old miracle living among us. 

We can all learn from Jaylin about how to get past our daily annoyances and nuisances, and look at the big picture in life. 

We can all learn from Jaylin about how to avoid complaining over dumb, trivial matters. 

We can all learn from Jaylin about how to live life with optimism in our minds, and happiness and love in our hearts.  

Yes, Jaylin Quesenberry truly is a miracle. But not because she’s a little girl fighting through considerable daily challenges. 

She’s a miracle because of how she approaches life. She’s a miracle because she likes school, and enjoys learning. 

She’s a miracle because she’s here with us, inspiring us, teaching us about hope, about love, about perseverance. Because there’s few people any of us know who has to persevere on a day-to-day level the way that Jaylin Quesenberry does. 

“She very rarely cries,” Jaylin’s mother said. “She is just dancing, hugging on you, laughing. She is just a happy child. She has some meltdowns, like all children, but she’s just a happy child. She loves to play ball. Even with her joint stiffness, it doesn’t slow her down. It does not slow her down.”