Connecting with families like yours and hearing their stories can help your own family better cope with Hunter syndrome. Below, you will hear from families and gain information and inspiration from them.
There is a range of severity associated with Hunter syndrome. It is important to keep in mind that the stories featured below may not be typical of all people who have Hunter syndrome. Many of the stories below discuss patients on the higher functioning end of the spectrum of disease severity; however, Hunter syndrome symptoms can manifest differently depending on the severity of the disease.
Jonathan was diagnosed with Hunter syndrome more than 15 years ago. When Jonathan was 4 years old, his parents noticed several unusual symptoms including curled fingers, short stature, restricted airway, 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. But it wasn’t always so.
As a baby, he suffered 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.”
In November 2000, Bryce, then 4 years old, was diagnosed with Hunter syndrome, but it was not a trip to the doctor that initially alerted Bryce’s parents that something might be wrong.
It was when a gymnastics instructor told them that their son could not participate in tumbling class due to his limited range of motion that they realized Bryce could be experiencing something more 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 (MPS II).
Bryce is a very creative 11 year old 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. He has lots of things going for him and a very positive attitude about the future.
Meet Nicholas and DiAngelo
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 physician who could manage Nick’s Hunter syndrome. Eighteen months ago, Nick, DiAngelo and their family moved to California to be closer to the boys’ physician.
Both Nick and DiAngelo enjoy attending school and are looking forward to starting summer school in June. Nick is in fourth grade and is a Cub Scout member. Besides school and Cub Scout activities, he likes to work on puzzles. According to his mom, Annette, Nick 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 is in first grade and, like his older brother, is also a Cub Scout member. He loves animals and one of his favorite things to do is to watch the Animal Planet channel on television. Like a typical 7 year old, DiAngelo’s favorite toys are cars and trucks.
Laurel, Mom of Chip and David
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. Laurel and her family have been dealing with Hunter syndrome for nearly 11 years, when Chip was first diagnosed.
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 as 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 day is 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 doing scrapbooking and reading. The family also sponsors a walk every year in their home town 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.
Meet Jack’s Parents, Grandparents, and Teacher
Jack’s latest pastime 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. He has a 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.
1. What is his favorite food?
All who know Jack become aware rather quickly of his apparent insatiable appetite. His greatest obsession these days is buying hot lunch at school and he loves this for many reasons. It is a clear indicator of his 1st grade status (kindergarteners do not buy hot lunch) and, regardless of what is on the menu for that day, grilled cheese is always a backup item. Grilled cheese is at present his most favorite food group.
2. Jack’s favorite TV show?
Jack has quite an affinity for superheroes, in particular Batman and Spiderman. However, he won’t pass on an opportunity to view the Teenage Mutant Turtles or The Incredible Hulk.
3. What makes Jack laugh?
Jack has a wonderful sense of humor. He laughs at almost anything silly but he loves to make you laugh.
One evening recently the family was roasting marshmallows and we all had one too many of them. There was a quiet moment and Jack said “So what’s for dessert, mom?” We all looked at him in disbelief since we were all so full. I said “Jack, you just had dessert. You’ve eaten almost 6 marshmallows!” He waved me a way and with a big belly laugh he said “Aw mom, I was just kidding! I was joking!”
4. What has Jack taught you?
I think Jack has taught me that sometimes we need to sit back and take in what really matters. I would rather have a smile than a tear any day!
Meet Brothers Brad and Gifford
Brad and Gifford are two brothers living in Georgia. Read about their experiences, hobbies, involvement in the “Run for Erin” Race, and advice for others living with Hunter syndrome.
Can you share your experience with living with Hunter syndrome?
Brad: I spend most of my days surfing the Web and watching TV.
Gifford: This is all I’ve ever known. I need help with a few things, like putting on socks, reaching things above my head. I have a job at a grocery store as a cashier. The job requires a lot of reaching and lifting; but for the most part the store was accommodating for me.
What do you enjoy doing during your free time?
Brad: I like surfing the Internet.
Gifford: In my free time I like to play poker. I have been playing for 3 years now. I typically play 4 or 5 nights a week. I also like to watch football, pro football is my favorite. My favorite team is the Dallas Cowboys.
Can you share your experience participating in the recent “Run for Erin” Walk/Run?
Brad: I help the Knights of Columbus run the hamburger and hot dog stand for people finishing their run.
Gifford: I have a lot of fun at the Run, even though I have to work it. I like being around all the people that come. It amazes me how many people show up for the event. It makes me appreciate what Erin’s family is doing to get the info out there. People are finding out about Hunter disease and gaining an understanding about how devastating it could be. The more people know about it the better.
Meet Nicholas and Christopher
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 symptoms of Hunter syndrome were an enlarged liver and spleen, large head size, and frequent ear infections.
In 2007, 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, an enlarged tongue, and an enlarged liver and spleen. At first, the tests were inconclusive for MPS. After Nicholas required spine surgery for spinal stenosis in September 2009, 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 condition. Nicholas is a big fan of Harry Potter and boasts that he completed all seven of the Harry Potter books in 10 days. Nine-year-old Christopher is a little shyer 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 commitment to create awareness and educate others about Hunter syndrome.
Meet Aiden and AJ
Hunter syndrome, also known as Mucopolysaccharidosis II (MPS II) is a progressive, genetic disease. 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 raising two boys with Hunter syndrome. She describes the signs and symptoms that led to the boy’s initial diagnoses, coming to terms with their diagnoses and the difficulties they face as children in society.