In October of 2009, Justin and Stefanie Boyce, learned that their two children were both diagnosed with mucopolysacridosis (MPS) IIIA, or Sanfilippo Syndrome; a rare recessive genetic disorder occurring in only one of every 70,000 births, they felt they had to do something.
 The pediatrician of then 2-year-old Jayden, advised tests at Children's Memorial in Chicago because his head and liver appeared a little larger than the norm, and his mother also told him that his speech seemed a little behind that of his same-aged friends.
By series of testing and process of elimination, MPS IIIA; Sanfilippo, was confirmed. A urine test performed on his 2-month-old sister Brooklyn, also confirmed the same prognosis for her. This is the most severe of the four different forms of MPS, which currently has no treatment or cure. It's a genetic lyposomal storage disorder in which a crucial enzyme is missing that breaks down a specific sugar made by the body called heparan sulfate. Therefore, there are no dietary approaches. Over time, this sugar builds up in every body cell and with no way to be expelled, causes progressive physical and neurological damage, mostly affecting the brain, greatly reducing it victim's lifespan, with most dying in their teens.
Both parents were to learn that by them each having the non-working genetic Sanfilippo Syndrome enzyme, they only bore a 25 percent chance of passing it on to their children. Even this much was unknown to them until their children manifested the symptoms, which weren't readily identified.
Symptoms appear in the second year of life and include a decline in learning ability between ages 2 and 6 with IQ of less than 50. Normal physical growth can be expected in the early years, but final height is below average. Delayed development is accompanied by deteriorating mental status. Behavioral problems and sleep difficulties can be expected, (these are current physical symptoms that present at the time of the diagnosis in most MPS children) as well as physical symptoms like coarse facial features, full lips, heavy eyebrows that meet above the nose, stiff joints and walking problems. Eventual blindness (is not a symptom in Sanfilippo), mental retardation, inability to care for themselves, progressive nerve damage and seizures can manifest, as well as liver and spleen swelling.
While there is promising research, the Boyces can't wait for concrete breakthroughs when their children's escalating needs are expected to include wheel chairs and home alterations. To accommodate these, various fund raisers are taking place to help raise money to build a single level, handicap-accessible home to inhabit instead of their now two-story home next door to family.
"We need an open floor plan with some home modifications recommended for them, like Dutch doors to see them and still keep the door locked. Even in this house, as lovely as it is, there are corners and edges that I can't see around if I'm in the kitchen. It's constant monitoring because Jayden puts everything in his mouth and also falls a lot. There are different scenarios. It's not like with a normal 4-year-old where you can be in the kitchen making dinner and trust everything is okay around the corner. He also gets easily bored because he has a very short attention span, so he just walks around the house and destroys things, like by pulling things off the shelves," Boyce says.
"Every kid is different, but usually at ages 0 to 2, you don't see anything. Ages 2 to 6 is usually the stage where they start to lag behind their peers. Ages 5 to 10 is when they become really difficult to manage. They are clumsy and also very hyper. It is handling a toddler in a 10-year-old body while neurologically there is regression. After 10, they start to slow down and become less mobile. That's the point at which they need a wheel chair and potentially a feeding tube and breathing apparatus,” Boyce explains.
"Jayden is in the system for 'Make a Wish' and Brooklyn isn't yet 2, which is the required age, but will be eligible, which lasts for only for two years. There are a number of ways to make a wish, but we've already done vacations and Disney and Jayden feels more comfortable at home. We'd like to use Jayden's Make a Wish for a fence in the back yard of our new home because he has no sense of danger and he loves to be outdoors. We hope we can get into the new house by Brooklyn's eligibility. We'd like to apply Brooklyn's Make Wish to make a therapy room for them in that new basement." 
Boyce says at Jayden's present age of 4, he functions at about a 24-30 month age, but his speech is probably at about 18 to 24 months with about 50 words, though they aren't pronounced distinctively. Any child with special needs has an Individualized Education Plan (IEP) so Jayden goes to such a school in Waukegan.
"We know that there are just so many blessings and life lessons that are coming out of it that we can see, says Stefanie Boyce. "I think you have to make a choice. You either have to hold on to all the good things coming out of it or concentrate on all the good things you're not going to experience and we can't be in that place because it would just devastate us. It's too hard and our kids are so happy, we just have to concentrate on that and enjoy that while we can. We'll be sad when they're gone, but right now, we have to enjoy them. Unfortunately, it took me Sanfillipo to really grasp that. I have always enjoyed my kids, but I guess that's one of the things you learn."
Boyces feel it's crucial for research to find a way to arrest this disease before their kids get too far advanced, because their disease won't be reversed, just stopped in whatever stage its in, so, better sooner than later into the disease process.
Various fundraisers have already taken place, including a huge rummage sale comprised of congregation-wide donations from their church family at Immanuel Church in Gurnee, from which $6,200 was raised for MPS research and another held at Bee Street in April from which $12,391 was raised. Still, there is so much more to go!
A deeply Christian family, the Boyces have strong faith and say they are building a support system around them through an outpouring of love and prayer, but also the generous monetary funds given to facilitate the building of a safer and better home for their family in light of their current and future needs.
Hoops and Dreams, another big fundraiser planned, is coming up on Saturday July 3, from 10 a.m. to 2 p.m. at Beach Bible Church at 3520 21st St in Zion in which participants will be shooting free throws in an effort to raise $10,000. More information and registration for this event can be found online by following the prompts at the web site: buildwiththeboyces.com
Contributions can also be mailed to:
The Boyce Family
P.O. Box 195
Zion, IL 60099
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