Photo by: Photo submitted
The Jones brothers, Collin, Riley, Gavin and Wyatt, gather for a portrait in August.
When a child falls ill, parents usually find hope in medication or surgery. But there is no cure for a child diagnosed with Hunter syndrome.
Wyatt Jones, 3, Mahomet, developed normally until 18 months old. Around that time, he developed chronic ear infections, leading to high frequency hearing loss. He received ear tubes and had his adenoids removed. Friends and family also noticed that Wyatt’s head seemed large, which is a symptom of Hunter syndrome, but doctors weren’t concerned because his father is six-foot-four and built like a linebacker.
Veronica, 28, and Abe Jones, 30, Mahomet, knew their son should be communicating verbally by age 3, but when Wyatt still wasn't talking, they took him to a developmental therapist.
The therapist thought Wyatt would blossom in an established speech program. But to ensure there were no underlying conditions, the developmental therapist referred him to a genetic specialist at St. John's Hospital in Springfield.
Before running any tests, the geneticist told Veronica at 10 a.m. Oct. 28 to cancel their appointment that afternoon with the ENT specialist. After Wyatt was examined, Veronica was told he needed to be tested for Mucopolysaccharidoses (MPS) diseases, Hurler and Hunter syndromes. She also was told her youngest son, 18-month-old Gavin, should be tested also,
because he had some of the distinguishing facial features related to MPS.
That afternoon, Wyatt had 35 X-rays taken of his body, blood work and a urine analysis, which detects fatty cells in the urine. Gavin was tested in the following days at Carle Hospital.
Wyatt and Gavin were diagnosed with MPS II or Hunter syndrome. Traces of MPS I, Hurler syndrome, were also detected in their DNA testing.
“Wyatt and Gavin both love to play outside. They love basketball, baseball and swimming, and basically have the same interests as anyone else their age. They love spending time with their brothers, curling up with their mom and dad, and watching movies,” Veronica said.
Hunter syndrome is a genetic disease that is passed from a mother to her children. According to the Children’s Memorial Hospital website, the disease usually only affects males. There is a 50 percent chance a son will have the condition or that a daughter will be a carrier.
Veronica didn’t know she was a carrier of the disease, as no one in her family had been affected by it before.
The Mayo Clinic describes the disease as being caused when an enzyme that breaks down complex molecules is deficient, causing the molecules to build up in harmful amounts and attack certain cells and tissues.
Hunter syndrome develops in both mild and severe forms. Children with early-onset Hunter syndrome generally develop normally until age 2. Like Wyatt, early symptoms are a decline in developmental skills and chronic ear infections.
From ages 2 to 4, they experience accelerated growth with coarse facial features, a broad nose, abnormal bone size and thick skin. By age 5, children grow to 4 to 5 feet tall. At that point, their growth will stop. They also are expected to have limited arm movement.
Children who are mildly affected by the disease experience the same symptoms in a mild form. These individuals can live to be 50 to 60 years old. Children with a severe form, like Wyatt and Gavin, have a life expectancy of 10 to 15 years.
Children with Hunter syndrome also have a high tolerance to pain, which is why Wyatt’s ear infections weren’t diagnosed until they were severe.
Children with MPS II often suffer from sleep apnea. Wyatt and Gavin sleep two to four hours at a time, and Veronica gets about 36 hours of sleep a week. The boys will be tested for sleep apnea in Chicago.
Wyatt and Gavin had a port put into their chests for their weekly enzyme replacement therapies (ERT) on Dec. 21. Having a more advanced form of the disease, Wyatt had complications with his surgery, because fatty cells have already begun to take over the left side of his chest. Doctors were unable to find room between the rib cage and collar bone, so they anchored the port in his neck.
They hope that the ERT that Gavin receives now will give him a chance to speak before the disease takes over too much. While children are affected differently, siblings often have similar outcomes. Doctors will have a good idea what will happen to Gavin, because Wyatt is going through this ahead of him.
The boys will have weekly treatments for the rest of their lives or until the parent decides to stop them.
“Of course, as a mom, you don’t want to sacrifice one child to save another,” Veronica said. “We’ve been told that the sooner the boys get treatments, the better off they are. Gavin has received treatments a year and a half before Wyatt, and knowing that the disease doesn’t start taking over until two, he may have a little more lengthy life.”
And being ahead of the game is part of improving the quality of life for children with Hunter syndrome.
Every Thursday evening, Abe and Veronica drop their two older sons, Collin, 9, and Riley, 5, at the house of Abe’s mother. They leave early on Friday morning to take Wyatt and Gavin to Springfield for their weekly treatments, which last four hours.
Because Wyatt’s parents and nurse were informed, they knew there was an escalated chance a child will have a reaction to the treatments sometime between treatments four and 12,. Wyatt had received a pre-treatment dose of Benadryl to calm him, but on his sixth treatment, he broke out in hives from head to toe. His medical team hopes to curb any further reactions by giving him a double dose of Benadryl before treatments.
After six months of receiving ERT, Wyatt will be eligible for a clinical trial at the University of North Carolina. The trial, which is the first study to introduce ERT to the brain stem of MPS II patients, will include 16 children between 3 and 8 years old.
Veronica said she hopes that introducing the enzyme to both the body and the brain will decrease some of the mental side effects along with the physical side effects. She hopes that one day Wyatt will say “mom.” At this time, the boys do not have any other serious medical conditions associated with Hunter syndrome.
As the disease progresses, their organs will become enlarged, they will have respiratory difficulties, cardiovascular and mental disorders, and will lose mobility. Eventually, they will have feeding or GI tubes because the fatty cells will build up at the back of the neck, making it hard for them to swallow.
“They tell you that it will become natural. It’s hard when you see your kid get used to going into the hospital and playing in a little space for three hours. I don’t want it to be routine. I want it to be unordinary, but that’s the way it needs to be,” she said.
The boys will have MRIs in March to see if there is any buildup along the spine, which causes spinal cord compression. They will also have a brain MRI to see how much gray matter is there, and if there is fluid or buildup around it.
The MPS Society and a community of other parents whose children have Hunter syndrome offer information the Jones family needs to plan for what will happen and to prepare for the things they will need.
Abe and Veronica have started to put together a safe room for Wyatt. At this point, Gavin is still in his crib. Wyatt, a 50-pound 3-year-old sleeps in a safe with a bed, a television and a few toys that he can’t hurt himself with. They have also split his door in half with a lock on the outside so that he can call out to them, but cannot get out while others are sleeping. They have had to buy a double stroller and car seats that can handle larger children, and will have to buy wheelchairs, Safe Beds, and possibly a ranch style home as the boys get older.
Parents of children with Hunter syndrome are also advised to prepare for their child’s funeral once they are diagnosed. At first, Veronica and Abe thought they wouldn’t plan for the end, but would “have hope and faith that a cure will come around. But after talking to a couple parents who children passed away this past year, they said that is the one thing they wished they would have done.”
A few weeks after finding out their sons had the disease, Abe and Veronica planned the boys’ services and put it in a notebook in a filing cabinet, so that when they do pass away, it will be available to hand off to someone else.
“I never want to think about losing my children, and I hope and pray every day that a cure will come about, but it stares at me in black and white that this is their end,” she said. “They will die at a young age.”
They have also had to explain to Colin and Riley that their brothers will be going to hospitals often, getting treatments and surgeries, and that they will die. Being prepared for the upcoming years as a family is helping to make their lives as normal as possible.
Veronica said, “We know where we’re at and we know where our boys are going. We’re all about making sure other families don’t have to go through what we are. It’s nice to have answers, although they aren’t the answers that I wanted. But if I can prevent another mom or family from having to go through the five stages of grief I’ve had to go through, then that’s part of my mission, too.”
To follow updates about or to donate to Wyatt and Gavin go to http://www.caringbridge.org/visit/wyattjones.
To find out more information about all forms of MPS diseases and the clinical trial at the University of North Carolina, go to www.mpssociety.org.
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