Get to know the Shamaly family – Kerry, Josephine, Alexander, and Ellie!
Find out what the past year has been like in their lives with this week’s Family Friday.
Get a glimpse into living with Sanfilippo Syndrome through the Shamaly family’s honest and insightful perspective.
The Shamaly family lives in Connecticut. Ellie is 7 and was diagnosed with Sanfilippo in August 2017.
What has been going on in your family and for your child in the past year? What have been hard parts? What have been bright spots?
The last year has presented many challenges for our family, like most, during a global pandemic. We found ourselves home and navigating how to meet our children’s needs, all while trying to protect them from the unknown. School closed, important medical appointments were put on hold, and we wondered what consequences this would have for Ellie.
At first, she was happy to be home, but quickly she started becoming frustrated and bored without social interactions. Sleep became more difficult for Ellie without structure and routine. Ellie requires constant supervision and care, and it felt almost impossible to manage her needs while keeping big brother on task with his schoolwork. We got some relief when summer came around, and we were able to begin getting out more. Ellie really loves being outside and seeing her people more than anything.
The silver lining of the pandemic is not lost on us. We were given the gift of time together. Our family got creative to keep busy. We made it a point to get outside each day. Instead of going to restaurants, we ate in the trunk of our car or outside with friends/family. We did art projects and made keepsakes for our home that we would not have otherwise. Like all Sanfilippo families, we never take being together for granted.
What is your child like today, compared to when they were diagnosed?
Ellie was very fortunate to receive a diagnosis at only 2 years old. At that time, she was only delayed in expressive speech and fine motor skills. We worked tirelessly with her and she was still making steady gains developmentally. She was quickly enrolled into a clinical trial, and our family moved across the country with so much hope. Ellie suffered complications while receiving the study drug and it was decided that it was no longer safe for her to continue to receive treatment.
When Ellie’s treatment stopped, we quickly started seeing her symptoms progress. Dealing with the loss of treatment and watching her lose skills right before our eyes was excruciating.
Ellie is now 6 years old, but developmentally more like a toddler. She stills watches Elmo and listens to nursery rhymes. She loves jumping on her trampoline and chasing bubbles. We miss the things Ellie used to say or do, and we live with constant heartache and grief for who our daughter was before Sanfilippo Syndrome.
What is one thing people would be surprised to know about living with Sanfilippo?
I think people would be surprised to know that Ellie isn’t sick. In fact, she has an unbelievable appetite, boundless energy, and the quickest reflexes (don’t put your plate down). We know without a treatment or cure, this could change at any moment.