KARSYN GRACE WALLACE

Current Age: 12

Home State: Indiana

Diagnosis Date: February 13, 2012

Sanfilippo Type: MPS IIIA

Parents: Chad and Kathleen

Sibling: Brayden

What it felt like when we learned our child has Sanfilippo Syndrome…

When we learned that Karsyn has Sanfilippo, it was very unexpected and shocking news. While we knew she had a few minor and logically medically explained delays, mainly from chronic ear infections and prematurity, we NEVER thought it would be anything we couldn’t fix. I remember asking the geneticist what could we do for this. Would she need surgery? Medications? Therapies? His answer was that the suggested treatment was “supportive and palliative care.” His brief explanation said very few, yet very many words, all at the same time. Quite honestly, four years later it’s still sinking in.

What our child loves the most is…

Food!  Karsyn’s nickname is actually “Swiper,” because it doesn’t matter whose food it is, it’s fair game!  Some of her favorites are jerk chicken, beef burritos, mashed potatoes, sausage/egg biscuits, Blizzards and other ice cream; this kid really loves to chow down!  Food is an event for her, not just a necessity!  Other things she loves to do are jump on the trampoline, (we even have one in our living room!) watching Dora, Caillou, and Sophia the First, bike riding with the family in her WIKE bike trailer, hanging on a tropical beach, relaxing in a hot tub, and walks with her family.  Karsyn LOVES HORSES!!!  She is quite a natural, too! t Being as we are so close to Kentucky, she gets to see them often on various horse farms.  She’s even met the 2010 Kentucky Derby qualifier Ice Box!

Sanfilippo may be slowly chipping away at Karsyn, but we are so, so thankful that she can still do the things she loves and that her quality of life is still intact.  As the old saying goes, “Don’t count the days.  Make the days count.”  That is exactly what we wish to accomplish for however long this last, and we pray it never ends.

How has Sanfilippo affected our child?

Karsyn most recently has started to endure more complications from this disease. While still our sweet, fun loving, giggly girl, daily task that most 8yr olds take for granted are becoming more and more of a challenge for her. Her words were the first to go, along with what little potty training she achieved, and now she is having some difficulty walking unassisted for more than a half dozen or so steps. She is adding PT to her regimen of private care, (she has taken private OT for many years,) and is also coming up on an appointment with a pediatric orthopedist to see what, if anything can be done to combat the extreme tightening in her heel cords, as well as a right foot that seems to be turning inward at the ankle. Karsyn also requires about two-three times the typical amount of calories for a child her age in order to maintain her weight and growth at this point due to malabsorption issues. Our family spends a lot of time at the dinner table!

How has Sanfilippo affected our entire family?

Sadly, we split up a great deal for activities. Whether it’s something that isn’t safe for Karsyn, or something she can’t tolerate, oftentimes we find ourselves separating. We also have a 14 year old son, but this is much more than just a difference in age or abilities between the two. We also miss out on many activities with peers. Most people with children of Karsyn’s similar age plan activities around that chronological age range. Thanks to Sanfilippo, Karsyn is 8 going on somewhere around two years of age or even less at this point. You can see where that just doesn’t work typically for either party.

The hardest part of being a Sanfilippo parent is …

Knowing that without a miracle, our daughter will never achieve her full potential, and that she will continue to suffer. She will never participate in the milestones of life that are considered a right of passage for most. No first date, no drivers license, no higher education graduations, no marriage, no children, no first home, no career, basically no independence as she continues to be robbed of what should have been. That’s what hardest now. What will be the hardest in the future will be learning how to live without her after she’s buried in the casket that we picked out, in the memorial garden with a six foot hole, after being so graciously displayed in the funeral arrangements of our choosing. Mentally taxing is an understatement.

The biggest misconception people have about being a Sanfilippo parent is …

That being “that” parent only happens to other people, but in reality, I’m here to tell you that the carrier rate for Sanfilippo alone is 1:133 people; and not only that, there are over 7,000 rare diseases and counting on this planet. Just because that ultrasound says your baby is healthy doesn’t make it so. We too, were supposed to have a healthy daughter. Don’t ever estimate that you or someone you love couldn’t be next. This is why education and awareness is so important!

If we could tell people just one thing about Sanfilippo Syndrome, it would be …

That a cure is CRUCIAL. Remember, this doesn’t just start and stop with us. Sanfilippo doesn’t care about your socioeconomic status, your gender, race, ethnicity, or even your blood type. It’s an equal opportunity offender and found in every part of the world.

If we could ask just one thing from the world/people, it would be …

Reach out to families with special needs. Oftentimes they’re struggling in many areas, all the while hiding behind their smiles. Educate your children on the contributions of ALL people, regardless of their limitations. Special needs children and families both are often scared, isolated, overextended, have been sleep deprived for years, juggle a balance of “normalcy” for their other children’s sake, and oftentimes have seemingly 60 hours of work to do in a 24 hour day given their child’s level of care that is in excess of other children their age, in addition to their jobs, housekeeping, and other daily obligations. Can you imagine how much you could help recharge their batteries by offering to lend a hand? Or a kind word?

Why are we asking you to donate to Cure Sanfilippo Foundation?

Just because nobody in your family doesn’t have Sanfilippo now, it doesn’t mean they won’t in the future. Your future grandchild, niece, nephew, or other loved ones are depending on you!