We have been so grateful over the past six months for Camila’s mobility devices. She has greatly benefited from increased independence, self-exploration, and social participation. Camila has enjoyed exploring our home, neighborhood and even the library. Her pure existence is a daily reminder that on-time mobility is essential - a basic human right. She reminds her community to remain curious and presume competence. If there was ever any doubt that a 1-year-old could maneuver in a mobility device, disabled toddlers might just surprise some people. 

 

As she is nearing her 2nd birthday and her symptoms have further developed, we have noticed her experience more weakness from the waist up. The Firefly Scooot has significant weight but for about 3 months, didn’t impact her ability to maneuver long distances. Camila now fatigues quite quickly and has sadly stopped requesting her Scooot, what once was her favorite mobility device. 

 

So, what does this mean? We are exploring options to acquire Camila’s first “big kid” wheelchair. Frankie and I have spoken with her Durable Medical Equipment (DME) supplier and we’ll soon be demoing a few lightweight pediatric wheelchairs. We are identifying options to fund the cost of a wheelchair, as our insurance plan will not cover this mobility device. 

 

We have also decided to resume seeking diagnostic clarity. As you may recall, we took a 7-month hiatus after many specialty visits and forms of testing came back unremarkable. After much research and consultation with Camila’s Pediatric Genetic Counselor, we have chosen to pursue Whole Genome Sequencing (WGS). 

 

When we were in the early months of this experience, Camila’s medical team advised us to start with a test called Whole Exome Sequencing (WES). This genetic test looks at the part of our DNA that tells the body how to make proteins. Although this part makes up only a tiny percentage of our DNA (about 2%), it is where most known genetic conditions are found. At the time Camila completed WES, it was considered the most comprehensive genetic test in outpatient settings. 

 

WGS looks at all DNA, not just protein-making parts. It evaluates parts of our DNA that control how and when genes are used. WGS can catch changes that WES can miss, including ones that affect how genes are turned on or off, or if parts of the DNA are missing or repeated. WGS gives us a greater chance of finding clarity that could one day lead to targeted treatment or better care. 

 

Recently, WGS testing has become available in large medical hospitals across the country and even some outpatient settings have had success in insurance coverage. We are lucky to have this opportunity and currently waiting to hear whether any or all of the cost will be covered under our plan. 

 

We look forward to providing updates on both fronts! 

 

With love, 

The Weilnhammer Family