Sydney was a typical, happy baby during her first year of life. She ate well, loved to babble and was thriving until around 14 months. Her parents, Samantha and Adison, noticed that she was not progressing developmentally. She was cruising around furniture but wasn’t walking. When Sydney was about 16 months, her parents took her to their pediatrician because she was only getting further away from being able to walk. The pediatrician recommended foot/ankle braces (SMOs) and Physical Therapy.
A couple of months went by and she was still not progressing. The family then turned to the Shriners Orthopedic Clinic in Minnesota. Sydney went through a muscle biopsy, EMG and an MRI of her brain. The specialists believed it was a muscular dystrophy and they were referred to a neurologist.
A few months later, Sydney started developing some neurological symptoms such as nystagmus, ataxia, and severe weakness in her legs. Since she was developing more neurological symptoms rather than just muscular symptoms, her neurologist at Shiners suggested Sydney join a study at the National Institute of Health in Bethesda, Maryland. The family was honored to be a part of the study and got in about 6 months later. They found that it was in fact neurological and not muscular. It had now been a year since the quest for answers began.
A month after the NIH, Sydney continued to regress further. She couldn’t stand without falling and her eyes were shaking more. The doctor at the NIH referred them to a neurologist closer to home, who diagnosed Sydney with leukodystrophy, but was uncertain of the type. Sydney was admitted to the hospital the following day. She had a seizure and developed influenza, which exacerbated her symptoms and she has never fully recovered. They did a 24-hour EEG and another MRI on the brain. The MRI showed changes such as white matter degeneration of the brain and that her cerebral cortex and cerebellum had shrunk from the year prior. Samantha recalled, “She just kept getting worse and worse. She went from being a typically normal kid to you’ve got something rapidly degenerating in your brain”.
They took Sydney to the Leukodystrophy Clinic at Children’s Hospital of Philadelphia. However, they learned that it was not leukodystrophy. They completed Whole Genome Sequencing and arrived at a final diagnosis. Sydney was diagnosed with Infantile Neuroaxonal Dystrophy (INAD), a very rare genetic disease that only affects 300-500 people worldwide and has a lifespan of 5-10 years of age. Samantha explains “Her body is growing, but her brain is shrinking. It’s like ALS for kids”. Sydney is currently in three different clinical studies, one through the NIH and two at the Children’s Hospital of Philadelphia.
Time to get loud shouters!
Throughout the month of August we will be shouting love for Sydney and her family. It is a great honor to be able to tell Sydney’s story and we hope you will join us in getting to know her and her family.
So click here to shop now where every purchase in August will be used to help cover the costs of a new bath chair and neck roll to support Sydney’s head, two items not covered by insurance. You can also start a monthly subscription and shout love for great kiddos like Sydney each month!