Family Friday 2023: The Funderburk Family

August 14, 2023
Solomon Pearson and his family, living with Sanfilippo Syndrome

Hear directly from the Funderburk family – Parents Josh and Jess, Jolene (age 5, Type A), and brother Wyatt!

Awareness is a huge part of fighting Sanfilippo Syndrome. With awareness comes caring and understanding, which can lead to support and donations for research that can give children with Sanfilippo more good days.

“Family Friday” are a way families and the Foundation help spread awareness, by sharing a window into their family’s life. A window that builds understanding and visibility of life with Sanfilippo, the difficult and the uplifting, and everything in between.

This week, we are honored to share the insights and personal perspective of Jolene’s family. Jolene is 5 and was diagnosed March 2022.

Solomon Pearson, living with Sanfilippo Syndrome
Solomon Pearson and his family, living with Sanfilippo Syndrome
Solomon Pearson and his family, living with Sanfilippo Syndrome

What is a “life with Sanfilippo” hack that you use all the time?

Ice! The grandmother of one of Jolene’s sweet preschool friends donated toward the purchase of a nugget ice machine for Jolene. The soft ice helps give Jolene something to chew, which she needs pretty often.

Jolene is a sensory seeker, and the cold temperature and sensation also gives her a little sensory input that can be helpful as a distraction when getting dressed, on the way to school, or if she’s anxious about something coming up.

Jolene is a pretty picky eater as well. One of her favorite prizes after therapy or a doctor appointment is a cup of Sonic ice or a plain snow cone (but also Chick-fil-a French fries).

I also keep an ice roller in the freezer. She can roll on her face or legs or arms to help calm her if she is struggling.

Jolene can have some big feelings so it’s helpful to have something that can distract her from a meltdown or help redirect her when she might already be melting down. We even try to travel with our hand-crank snow cone machine so we can take the fancy ice with us wherever we go.

What is your day-to-day life like and how does it differ from a family that doesn’t have a child with Sanfilippo? How is it also the same?

A day in the life of Jolene begins with wake up! Jolene is usually up, ready to go in the morning. She selects the stuffed animal of the day to come downstairs and we head downstairs for breakfast. We lock Jolene’s bedroom door usually after we come downstairs for the day.

I pick out Jolene’s clothes for school the night before. A trigger in the morning can be if she decides she does not like what she is wearing and wants to change. But then she can’t make a decision, which causes us to run late.

Additionally, our house has a metal spiral staircase. Jolene is capable of doing the stair currently, but I try to limit the number of times we go up and down just to keep her safe.

Getting Jolene dressed in the morning always makes me hold my breath because I never know what might trigger her and cause her to be upset. If her sock isn’t on right or the Velcro isn’t matching on her shoes. If I accidentally pull her hair while brushing or braiding, etc.

I try to keep the mornings as calm as possible to send Jolene off in her best mood to school.

Jolene attends public school and is currently in a typical kindergarten classroom, but pulled by a special education teacher for small group ELA and Math instructional time. She also receives several therapies during the day at school.

Unlike the typical child, one day a week Jolene has a half day so she can receive feeding therapy and continue speech, occupational therapy, and physical therapy at a private office. We do everything we can to fight regression and therapy is a big priority.

After school activities are pretty typical right now. She participates in midweek children’s activities at church and ballet/tap lessons. She also enjoys music therapy once a week.

With her sensory-seeking tendencies, you can usually find her with some Play-Doh or kinetic sand, drawing on herself with markers, playing in the dirt or mud, or riding her tricycle or scooter as fast as possible.

She is also a singer and likes to write songs to narrate her day. You most likely hear her coming before you see her, which can be helpful as she tends to walk out the door often here on the farm.

Around 5:00 p.m. each night, we give Jolene her homemade purées. Due to feeding difficulties, she only eats her fruits and vegetables pureed. These also hide her supplements that we give each day. Jolene can’t chew a vitamin and refuses most liquid supplements, but I can hide most things in her homemade purées.

Jolene gets hungry a lot earlier than we do, so she eats most of her dinner before we gather together as a family. So dinner time usually involves Jolene joining us at the table with a coloring activity or her beloved ice cream playset as she plays “Jojo’s Restaurant.”

We give Jolene cashew-milk yogurt after dinner to keep her blood sugar up and keep her full so she sleeps better.

Jolene has a lot of foods that cause reactions with her GI system, so her meals consist of mainly the same foods every day. But she is making great strides in feeding therapy and trying new things.

Jolene hugs and tells everyone “Good night,” including her puppy Charlie Waffles and brother Wyatt, who are her best friends forever.

Surprisingly, even with Sanfilippo, Jolene falls asleep very quickly and, pending any anxiety triggers or food reactions, she usually sleeps most of the night.

We bought her a larger mattress so, on difficult evenings, I can sleep in there with her to help her fall back asleep and to keep her safe if she is awake.

Because of Jolene’s diagnosis a lot of her day is pretty typical. But there are a lot of aspects of the day that require extra care and thought to keep Jolene happy and to make a great day.

Solomon Pearson, living with Sanfilippo Syndrome
Solomon Pearson, living with Sanfilippo Syndrome
Solomon Pearson, living with Sanfilippo Syndrome

What drove you to get your child/children diagnosed? And what was the diagnosis journey like?

Looking back on Jolene’s first few years, a lot of things make sense now that we have a diagnosis. But back then, none of them were a red flag or signaled there was something bigger going on.

Jolene was a little late with her physical milestones, but always snuck in hitting them right at the tail end of the typical development timeline. She began walking the day she turned 18 months, so her pediatrician felt everything was fine.

Jolene would continue to put sticks, rocks, markers, hot wheels cars in her mouth to chew on, and we just assumed she would grow out of it.

She had a lot of feeding difficulties, especially as we moved on from purées. At her three-year wellness check-up, I asked for a feeding therapy referral. We did therapy for a year with not a lot of progress. Her therapist did note that her tongue had low muscle tone.

I did some research and discovered through observation, I believed, that a lot the muscles throughout Jolene’s body were low tone. I asked for occupational and physical therapy referrals, and she qualified for both.

At her four-year wellness check-up, I mentioned the hypotonia (low tone) to her pediatrician and that I’d like to find the cause of the low tone. The pediatrician referred to a neurologist. After a brain MRI showed gross immature white matter development, her neurologist ordered genetic testing.

Jolene was 4.5 years old as this point. A few months later, on March 3, 2022, her neurologist called us in and shared that the genetic testing revealed Jolene had Sanfilippo Syndrome IIIA.

A terminal, neurodegenerative disease was not anywhere on our radar. I had thoughts of maybe cerebral palsy or a stroke in utero to explain the low muscle tone, but Sanfilippo it is.

Jolene’s journey looks a little different than the majority of children with Sanfilippo because she has an attenuated (slower progressing form) of the disease. But her attenuation also can limit her access to clinical trials.

Jolene has not yet shown any signs of regression. She simply learns and matures at this point a lot slower than her peers.

We’re hopeful though for future clinical trials and research that a cure or treatment will be found and Jolene can grow up and be whatever she wants. Which given the day, can range from a dog trainer, make-up artist, baker, or a doctor.

Learn more about Jolene and her family:

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