Esme recently turned 4 years old. In February 2022 she was diagnosed with a SYNGAP1-related disorder. Her genetic report read: “The SYNGAP1 gene encodes a brain-specific synaptic Ras GTP-ase activating protein that plays a role in synaptic development…” Her diagnosis comes with a daunting list of symptoms: moderate to sever intellectual disability, language impairment, epilepsy, severe autism, behavioral abnormalities (including severe self-harming), developmental regression, hypotonia (low muscle tone), ataxia (poor muscle control and clumsy voluntary movement), photosensitivity, and myopathic facial hypotonia.
That’s a long, heavy list to carry. And Esme can’t carry it alone. She will need help throughout her life, from us and from specialized medical equipment. For example, Esme is too big for her stroller. We put her in it but her head hits the canopy and her legs fall far below the footrest. And because it’s a regular stroller there are hard surfaces where she can harm herself during a crisis. Esme needs a pediatric wheelchair. Without a pediatric wheelchair she can’t go where most kids her age could easily go. She can walk but it’s clumsy and she tires quickly. She also self-harms and a pediatric wheelchair provides her a safe space that restricts her ability to injure herself.
Esme’s entire medical team says she needs one. Our insurance company, however, disagrees and recently denied coverage for Esme’s chair. They say because she can walk at all at home she doesn’t need any help outside the home. So, we are asking for your help in getting Esme her pediatric wheelchair. Over the last 8 months, we have been researching all available pediatric wheelchairs. We tried to find the least expensive options but that has proven difficult for anything that meets her unique needs. It has to be larger than regular strollers. It needs special supports and harnesses to keep her safe. It needs a tray to hold her communication device (she’s nonverbal and is learning to “talk” through a tablet).
If at the end of our lives we are measured by the way that we were able to affect those around us to make them better then Esme is sure to make the Dean’s list. I can’t possibly use words, pictures, or any other medium to adequately convey to you what it’s like to know her but here’s my best effort. A pediatric wheelchair will not only help keep Esme safe, it will allow her to see more of the world and for more of the world to see her.
Esme LOVES to laugh and smile. She’s very social, which is good given the fact that she has more people in her family than even Disney will allow profiles for on its streaming service. Esme is an adventurer. While she like some routine in her days, she quickly gets bored staying at home and staying inside. When she’s tall enough we’re convinced Esme will love roller coasters. She loves anything that she can throw, splash, smear, rattle, bounce, bang, roll, spin, pull, drink, or topple. She digs in dirt and snow. She loves swimming in the tub, pool, river, ocean, or fountain. Esme loves music, even if it’s her dad singing all 19 words he knows to “Oh what a beautiful morning…” Esme loves patterns in all kinds of mediums: auditory patterns in xylophones and the Fancy Nancy theme song; visual patterns in wooden blinds, lights, cars, spinning things, and dirt or mulch falling through the air; and sensory patterns in rumbling clothes dryers and washing machines. We want to take Esme to science museums and aquariums and on walks in national parks, but she needs a pediatric wheelchair to do that.
From the bottoms of our hearts, we are grateful for any contributions you can make to help us get a chair for Esme.