Connecting with families in similar situations and hearing their stories can be a comfort when living with a Hunter syndrome diagnosis. In this section, you can hear stories from other families affected by Hunter syndrome and potentially gain both information and inspiration from them.
There is a range of severity associated with Hunter syndrome, meaning symptoms and experiences of the condition can manifest differently. It is important to keep in mind that the stories featured here may not be typical of all people who have Hunter syndrome; many of the stories discuss patients on the higher-functioning end of the spectrum of disease severity.
Learning your child has Hunter syndrome poses a whole new set of circumstances for a family to adjust to.
Meet Toni-Ann, mother of Aiden and AJ. Both Aiden and AJ were diagnosed with Hunter syndrome after seeing a geneticist recommended by their pediatrician. In this interview, Toni-Ann outlines her experience of raising two boys with Hunter syndrome. She describes the signs and symptoms that led to the boys' initial diagnoses, coming to terms with their diagnoses, and the difficulties they face as children in society.
At birth, Jackson seemed to be a normal, healthy baby boy. However, as he grew, his mother Carrie noticed some symptoms that concerned her. Among the earliest of these were a distended belly and taut skin. Compared to his twin sister, Jackson also appeared to be falling behind on certain developmental milestones.
After seeking the advice of various specialists early on, the family were recommended to visit a geneticist, where Jackson was diagnosed with Hunter syndrome shortly after his 3rd birthday. In this interview, Carrie discusses reaching this diagnosis and other red flag symptoms of Hunter syndrome, as well as her own feelings and the support she received post-diagnosis.
There is also a more general background on Hunter syndrome provided by two specialists in the field of MPS diseases: Dr. Barbara Burton and Dr. David Molter.
Meet Kyle Plunkett, who has not allowed his Hunter syndrome diagnosis hold him back from enjoying life to the fullest.
Learn more about one of Kyle’s main interests: sports! Kyle describes his enjoyment of being a fan of sports and participating in activities.
In this video, Kyle shares the places he has traveled to and the destinations still on his bucket list.
Friends are an important part of Kyle’s world. He believes that one of the greatest gifts of his diagnosis is the people it has allowed him to connect with.
Jonathan was diagnosed with Hunter syndrome when he was 4 years old. It started when his parents noticed several unusual symptoms, including curled fingers, short stature, restricted airways, and curved spine. His family has a history of Hunter syndrome, and two uncles from his mother’s side had passed away from the disease. Jonathan’s parents suspected that his symptoms were linked to Hunter syndrome and brought him to a local hospital, where it took 6 months to reach a formal diagnosis.
Jonathan’s parents did not allow Hunter syndrome to define him. In the same way, Jonathan doesn’t allow the disease to stop him from pursuing the things that he loves. He is incredibly passionate about rock ‘n’ roll. In the past few years, he was involved in several bands; he and his best friend formed their own band called “Undefined” and made their debut appearance at a local “Battle of the Bands” competition in Kentucky. Despite all that he has gone through, Jonathan has a positive outlook on life. His favorite quote is “It’s a long way to the top, if you want to rock ‘n’ roll!” from a song by Australian hard rock band AC/DC.
Sammy’s favorite things are riding the bus to school, playing with his friends, telling jokes, and going on vacations with his family.
As a baby, he suffered from severe respiratory conditions and painful, chronic ear infections. His parents have since learned that these are among the early symptoms of Hunter syndrome. When he was 2, he received his diagnosis. In the years that followed he had his tonsils and adenoids removed, underwent aortic valve replacement, and was frequently hospitalized for other kinds of treatment. From the day Sammy was diagnosed, his parents have been committed to learning, networking with other parents through the National MPS Society, and maintaining the best possible care and quality of life for their son.
“Today we have an opportunity to increase public awareness and tell families that there’s hope out there,” says Sammy’s mom, Vangie. “We have to talk about it. Even though Hunter syndrome is a rare disease, if parents know the signs and symptoms and what to look for, they can be more informed and know where to get resources.”
Bryce was diagnosed with Hunter syndrome at 4 years old.
Unlike in many other cases, it was not a trip to the doctor that initially alerted Bryce’s parents that something might be wrong. Instead, it was when a gymnastics instructor told them that their son could not participate in tumbling class due to his limited range of motion. Following this, they realized Bryce could be experiencing something more serious than normal developmental issues.
Bryce’s family went to their physician for guidance, but their pediatrician did not know what was wrong. After 6 months of seeing several physicians, Bryce was diagnosed with Hunter syndrome.
Bryce is a very creative boy with a passion for drawing cartoons. His comic strip is called “32nd Street” and the characters include himself, his friends, and a stuffed bear that comes to life named Mike. Hunter syndrome does not define Bryce, and he maintains a very positive attitude about the future.
Nicholas (Nick) and DiAngelo are brothers who both have Hunter syndrome. At the age when most kids are gearing up for kindergarten, both boys were diagnosed with the disease. The family lived in a small town in New Mexico when the kids were younger, and they had to go to several doctors before they got a diagnosis. Due to the rarity of Hunter syndrome, it was difficult to find a local physician who could manage the boys’ conditions. After a while, the family decided to move to California to be closer to the boys’ physician.
Both Nick and DiAngelo enjoy attending school and are also looking forward to starting summer school. Both boys are in grade school and are Cub Scout members. Besides school and Cub Scout activities, Nick in particular likes to work on puzzles. According to his mom, Annette, he is a good organizer and is a big help at home to his mom and older sister. Even at the hospitals, he is well-known for helping to keep the library neat by arranging the books! DiAngelo, on the other hand, loves animals and one of his favorite things to do is to watch the Animal Planet channel on television.
Laurel is the mom of Chip and David, two brothers who have Hunter syndrome. She is a stay-at-home mom who dedicates her time to looking after Chip, David, and their younger sister, Amy.
When Chip was young, at one of their many doctors’ appointments, a pediatrician diagnosed Chip as mentally disabled based on his slow cognitive growth. Laurel, being a mom, did not want to believe this was the correct diagnosis and was determined to find out the reason for Chip’s slow cognitive development. She brought him to a neurologist. The neurologist suspected almost immediately that Chip had Hunter syndrome. They ran several tests and did blood work on Chip, and eventually also on David, and both were diagnosed in a matter of months.
Laurel’s days are spent being a very busy mother of three. She does not have a lot of free time but when she finds time for herself, she enjoys scrapbooking and reading. The family also sponsors a walk every year in their hometown to raise awareness and money for the National MPS Society. Laurel’s favorite part of the annual event is spending time with the other families.
Jack has a great deal of different hobbies and interests, but his latest favorite is bowling. Video bowling, real bowling, bowling with fresh fruit—it’s all about the bowling. He loves to be involved in outdoor sports as well. Along with bowling, he hasn’t forsaken his love of playing baseball in the backyard with family, as well as throwing the football around as he waits for his bus to arrive in the morning.
Jack also has an affinity for superheroes, in particular Batman and Spiderman. However, he won’t pass on an opportunity to watch the Teenage Mutant Turtles or The Incredible Hulk either.
Loved ones are always kept amused by Jack’s wonderful sense of humor. He laughs at almost anything silly and loves to make others laugh too. One evening recently the family was roasting marshmallows and all had one too many of them. There was a quiet moment and Jack said, “So what’s for dessert, mom?” Everyone looked at him in disbelief, before his mother said “Jack, you just had dessert. You’ve eaten almost 6 marshmallows!” He waved her away and with a big belly laugh said “Aw mom, I was just kidding! I was joking!”
It goes without saying from this anecdote that all those who know Jack become aware rather quickly of his apparent insatiable appetite. His greatest obsession these days is buying hot lunches at school and at present his favorite food group is grilled cheese.
His family believes Jack’s passion for life can teach others to sit back and take in what really matters; after all, it’s better to have a smile than a tear any day!
Brad and Gifford are two brothers living in Georgia. Gifford describes his experience with Hunter syndrome simply as being all he has ever known. While he still needs help with some things, he generally leads a very independent life. He has a job at a grocery store as a cashier, which does require a lot of reaching and lifting that he can sometimes struggle with; however, for the most part he’s happy about how accommodating the store is of his condition.
In their free time, while Brad likes to spend a lot of time surfing the internet, Gifford’s main interest lies in playing poker—typically playing with friends 4 or 5 nights a week. He also enjoys watching football, especially his favorite team, the Dallas Cowboys.
Another big part of the brothers’ life is their participation in the “Run for Erin” Race, a fun run event organized to raise awareness and support for Hunter syndrome. They both help out at the Race by working, usually at a hamburger and hot dog stand set up for people finishing their run.
One of the highlights of the day for the brothers is being around and appreciating all the people that show up in support of the event. They believe strongly that the more people that know about Hunter syndrome, the better, making days like this so important to help others gain an understanding of what it’s like to live with Hunter syndrome—both for them and the wider Hunter syndrome community.
Unlike many who are diagnosed much younger, Nicholas and Christopher were not diagnosed with Hunter syndrome until they were 10 and 8 years old, respectively. Throughout their early childhood, they experienced minor health problems. Their most notable Hunter syndrome symptoms were an enlarged liver and spleen, large head size, and frequent ear infections.
Nicholas was recommended to visit a geneticist for an assessment when his pediatrician noticed that he was displaying facial features that are common to people who have Hunter syndrome—such as a prominent forehead, a nose with a flattened bridge, and an enlarged tongue—as well as an enlarged liver and spleen. At first, the tests were inconclusive for MPS. After Nicholas required spine surgery for spinal stenosis, additional tests were run and it was determined that Nicholas did have MPS II. His younger brother, Christopher, tested positive as well. Instead of being shocked by the revelation, the family embraced the news and their parents felt relieved to know the cause behind their various symptoms.
Nicholas is a big fan of Harry Potter and boasts that he completed all seven of the Harry Potter books in 10 days. Christopher is a little more shy compared to his brother. Both brothers participated in a patient panel in front of 300 first-year medical students at Wayne State University. The boys’ participation in the panel is part of the family’s ongoing commitment to generate awareness and educate others about Hunter syndrome.