Hendrix the Brave

Martha Rockwell, Itinerant Early Childhood Intervention Specialist
In many ways, Hendrix Mascara is just like other boys his age. He loves superheroes, playing outside, and riding bikes. Hendrix is arguably one of the most outgoing and friendly students at Harold Lewis Center, but he is also one of the bravest. His nickname, “Hendrix the Brave”, reveals something very special and unique about his story.

At the time of his birth, Hendrix was in respiratory distress, and was admitted to the NICU, where he remained for the first two months of his life. His parents, Kaily Buckholz and William Mascara, who are both respiratory therapists, realized that there was something unusual about their baby boy. Following DNA testing, his neonatologist determined that Hendrix had a small deletion on his X chromosome. This led to further testing and a diagnosis of Hunter Syndrome, also known as Mucopolysaccharidosis Type II (MPS II).

Hunter Syndrome is a rare condition, affecting 1 in every 100,000 to 170,000 children, primarily males. Children with MPS II have difficulty producing the specific enzyme which is essential for breaking down sugar molecules within the cells of their body. These molecules build up within the cells, causing progressive damage that will eventually lead to complications such as joint stiffness, heart and lung issues, and cognitive impairment. Over time, children with Hunter Syndrome begin to lose skills that they had previously gained. While there is currently no cure for Hunter Syndrome, treatments such as enzyme replacement therapy can help slow the progression of the disease.

Thankfully, due to his early diagnosis, Hendrix began receiving weekly enzyme replacement therapy (ERT) at 4 months of age. Beginning at 18 months, as part of a clinical trial, Hendrix began receiving ERT infusions directly into his spinal fluid so that the enzymes could travel to his brain and slow the progression of damage to his brain cells. The ultimate goal of ERT treatments is to slow the progression of the disease for as long as possible until, through research, better treatments such as gene therapy may become available.

Following his diagnosis, Hendrix’s parents contacted the National MPS Society, an organization that is dedicated to supporting families affected by MPS, as well as funding medical research to find cures. The MPS Society also helps connect families of children diagnosed with MPS who live in the same region, so that they can support one another and share information about treatment. New friendships are born from these connections, and that is exactly what happened next.

Harold Lewis Center intervention specialist, Lisa Muller, whose son, Riley, also has Hunter Syndrome, was contacted by Hendrix’s family. Since Riley is ten years older than Hendrix, Lisa was well prepared to support them by sharing everything she had learned about MPS and the local doctors who had helped to manage Riley’s treatment. The two families became close friends, as did the two boys, who call themselves “MPS Brothers”.

When Hendrix was four, his parents made the decision to move to Marysville, in part, because Lisa had told them how positive Riley’s school experiences had been, both at the Harold Lewis Center and within the Marysville Schools.

In January of 2020, Hendrix’s parents enrolled him at the Harold Lewis Center, and he was placed in Lisa Muller’s preschool classroom where he received services to support his educational needs including therapies such as speech, occupational therapy, and physical therapy. According to Lisa, “It’s pretty amazing that an MPS mom is teaching an MPS child. Hendrix reminds me so much of Riley at that age.”
When asked what his favorite thing about school is, Hendrix pointed to Miss Lisa and said, “My teacher.” His mother, Kailey, couldn’t be happier to have Lisa as Hendrix’s teacher. She explains, “I definitely don’t worry about him at all!”

Living with a rare disease such as Hunter Syndrome can be difficult at times, but Kailey wants everyone to know that, “Despite everything that our family goes through, we have been able to always find the joy though the sadness, and we realize that we can have those two emotions simultaneously.”
Hendrix will be graduating from HLC in June, and will attend kindergarten at Mill Valley next school year. His family feels comfortable knowing that the staff at Mill Valley are already familiar with Hunter Syndrome, thanks to Riley paving the way for Hendrix.

How You Can Help Children with Hunter Syndrome
Both Hendrix’s and Riley’s families have worked to raise awareness about MPS and to fund research into gene therapies specifically for Hunter Syndrome through Project Alive. There is not a lot of funding available for rare diseases such as Hunter Syndrome. If you are interested in supporting this research, donations can be made at www.projectalive.org