Madison Jane was born on September 1, 2019. Although it was an uncomplicated pregnancy, and she was extremely happy and healthy, Madison’s fine and gross motor skills started to fall behind the expected development timeline.
At 6 months old, her pediatrician suggested we connect with Early Intervention (EI). Then Covid struck, so occupational and physical therapies were done through virtual visits. By 11 months old, Maddie was still not achieving expected age-appropriate motor benchmarks, and it was suggested to us then to ask for a referral to a neurologist and physiatrist due to these delays.
Madison was then diagnosed with Spastic Quadriplegic Cerebral Palsy at one year old. She began taking an oral medication to help mitigate her spasticity, as well as receiving Botox shots every 3 months in her legs. She got her first pair of AFOs (ankle foot orthotics) and soon received her first stander and walker (providing her first opportunity to move independently). Before she was 2, we had both a brain MRI and genetic testing done. The genetic testing revealed two mutated genes that Mom shared with Maddie, and therefore they were deemed unlikely to be the cause of her tightness, since Mom shared no similar traits. The MRI revealed no evidence of any brain injury, and only a tiny spot of atypical development. We were told that this spot was most likely what was causing her spasticity. Doctors and therapists were always impressed by how well she moved, though her body felt so tight. Maddie always amazed us with her strength, perseverance, and incredible gains.
In February 2023, after meeting with a team of doctors at a spasticity clinic and completing a trial spinal injection of medication to confirm spasticity, we made the decision to undergo a Selective Dorsal Rhizotomy (SDR). Our little 3-year-old strong one came through like a champion! She spent about a month at Children’s Specialized Hospital recovering and regaining strength, and by the end of her stay, Madison was walking in her walker again! We could not have hoped for better results, and saw our girl become more comfortable and move more freely.
Unfortunately, our excitement was cut short, and Maddie’s tightness had fully returned by her 6-month follow-up with the surgeon and spasticity team. As SDR is supposed to be a permanent fix for spasticity, the surgeon believed that it might be another underlying cause and sent us to a new movement disorder specialist. This neurologist thought it appeared to be spasticity, but questioned causation, and sent us for further genetic testing.
At this follow-up testing we were advised that there was new research on one of the genes previously identified, and that this, instead of the atypical spot in her brain, was what was causing all of Maddie’s tightness. Findings on this gene were limited, and Maddie’s neurologist still wanted us to explore other possibilities, so she connected us with another top movement disorder specialist at Boston Children’s Hospital. He is conducting a study on genes that cause Hereditary Spastic Paraplegia, and in October of 2025, Maddie was deemed a good candidate and enrolled in the study.
In April 2026, we began a trial of a new medication, and for the first time since SDR, we saw some lasting reduction in the tightness in Maddie’s legs. This improvement was also accompanied by episodes of weakness, where her legs would give out unexpectedly. The Boston team advised us that both the reaction to the medicine and the unexpected weakness could indicate that we are seeing underlying dystonia as opposed to spasticity. So now the team will be looking for genes causing both, and we will be returning to Boston in August for further evaluation.
It’s been a 6-year whirlwind of different causational diagnoses, treatments that do not work the way they are expected to, and thousands of hours of therapy work. Through it all, our daughter has remained happy, outgoing, and has a desire to do every possible daredevil activity that she can do in life.
We are incredibly grateful for the honor of being chosen to be a recipient of the Shannon Daley Memorial Fund. Our family thanks everyone who helps to make this organization and these events possible!
