Have you met the Smith family – Nate, Alli, Spencer, and Sydney?
Hear what the past year has been like in their lives with this week’s Family Friday.
Every week, a partner-family will share an update on their lives. You’ll get a glimpse into living with Sanfilippo Syndrome through hearing family’s personal perspectives and words.
The Smiths live in Massachusetts. Spencer was diagnosed with Sanfilippo in September 2016, just months after his second birthday.
What has been going on in your family and for your child in the past year? What have been hard parts? What have been hard parts? What have been bright spots?
It’s been an interesting year for our family. When everything shut down, we were nervous and scared Spencer would regress significantly with all the time off from in-person school and missing out on his weekly therapies. To compound things, I was pregnant with Sydney. The days were busy and tiring, and as my due date approached, we were worried how the adjustment and big change at home would impact things, especially during a pandemic. I was also anxious about being able to be Spencer’s primary caretaker and teacher/therapist while also caring for a newborn.
Fortunately this past summer, a new ABA therapist came on board to work with Spencer shortly after I had Sydney. We were initially unsure how another change and transition would be for him, but she’s been amazing for Spencer and our family. Across the board, she’s helped Spencer make progress. He’s regained skills he’d lost a couple years ago, like jumping, playing toss, and using the potty. We never thought he’d learn to do these things again. Nate and I are thrilled with the growth we’re seeing in his potential.
A couple months later, we found a young male Personal Care Attendant who Spencer adores. He’s a teacher at Spencer’s school, and he’s helped bridge the isolation from being home to activities going on at school. Recently, he had to reduce his hours, but someone new just started and it seems like she’s going to be a great match.
One little setback for Spencer has been with his postural and core strength. Walking up our stairs, particularly in the evening when he’s tired, has become a more arduous task. He started wearing a special vest to help strengthen his muscles, but the ease and steadiness of climbing stairs a year or two ago is not there anymore. While Spencer still moves and gets around quite well and has grown in other areas, this regression represents the toll Sanfilippo takes on our kids.
The extra time at home with Spencer this year and as a family has been an added benefit of the pandemic, but we’re looking forward to the days when we can get out for some fun family outings and to summer when we can swim, which is one of Spencer’s favorite activities. It will also be nice for Sydney to venture out and meet friends and family, especially her cousin Ophelia who was born three weeks after her.
Hopefully things will be a little more normal come summer/fall, which brings us to our next big question/decision: What to do about school for Spencer. It’s a tough call since he’s been doing so well with his therapist and kids will likely not be vaccinated for a while. He needs to see his peers, but we’re hesitant to reduce his ABA hours or to face losing his current therapist if he were to go back, given he’s been making more progress at home than he was at school.
What is your child like today, compare to when they were diagnosed?
Spencer was signing and learning how to talk when he was diagnosed. Even though he had hearing loss, he started to develop language and grow his speech skills after his diagnosis. His comprehension was strong, and developmentally and cognitively he was functioning at his current age level. He followed directions, as well as understanding the routines and structures in place for him at school and home really well. He could anticipate when a transition was coming or when we had to leave the house for a class, appointment, or therapy session. He was a social butterfly and understood and got very excited when he knew he was going to see friends.
Life seemed almost normal, if you could say that, when he was diagnosed, except for the fact that we knew his future looked grim.
Today, Spencer still understands quite a bit and responds well to routines and systematic practices and ways of learning. Although he babbles and makes lots of sounds of excitement, he’s non verbal. Every now and then we’ll hear a sensible word from him, but he uses gestures and a communication board to express his wants and needs. He also doesn’t initiate social interactions and play with his peers like he did when he was diagnosed. He’s still eating solid foods and working on feeding himself independently, but this is a constant work in progress and takes some adult assistance and prompting. He’s become a bit more hyperactive and impulsive since his diagnosis as well, definitely mouthing and chewing things more which has been a new thing in the past year, but his overall happy and easy going temperament remains, thank goodness!
What is one thing people would be surprised to know about living with Sanfilippo Syndrome?
Everyday is unpredictable. You have to be on guard and “at the ready” for anything to happen. Behaviors could change suddenly, your child could have a tough night of sleep, be completely high energy, or on the other hand be exhausted, or could have an off day and you just never know what’s causing it. You never know what’s going to be thrown at you and there are so many curveballs along the way. One thing can remain steady and consistent for a while, and then all of a sudden change. There are so many unknowns, nuances, and often no ways to understand what your child is feeling because he can’t express himself. This becomes especially hard when he’s sick or in pain. Spencer’s had three seizures and they were all triggered by illnesses. If only we knew he’d been ill, maybe we could have prevented the seizures-especially the first one, when he was intubated for 48 hours and in the ICU for several days. It’s just heartbreaking and hard to watch your child experience these things.