The Avalon Foundation began with an act of kindness from a 10-year-old girl who wanted to help ease the pain and distress of other children who, like her, live with a rare disease. 

Avalon Budd was just 9 months old when her pediatrician became concerned with her gross motor skill development. It took almost 3 years to get a diagnosis: Hypophosphatasia (HPP), a rare genetic disorder in which defective mineralization (the process by which bones and teeth take up minerals such as calcium and phosphorus) causes abnormal development. Her parents poured over all the research they could get our hands on, but there wasn’t much available. There was no treatment available, either. 

Avie couldn’t walk without gait issues, much less run or jump. She used a wheelchair and electric scooter to maximize her mobility throughout her childhood years. She also faced challenges with cognition, energy, and sensory processing. 

In 2015, Avalon turned 10 and the FDA approved the first-ever treatment for HPP, an injectable enzyme replacement therapy (ERT) called Strensiq produced by Alexion, a global biopharmaceutical company focused on developing life-changing therapies for people living with rare disorders.

In just three months, Avie went from using a wheelchair to running and jumping around the volleyball court! The results were nothing short of miraculous, but it took time to start seeing improvements and Avie struggled with the pain treatment.  

Injections are painful and mentally challenging, no matter what condition you have or how old you are. Avie said these injections, which were delivered three times a week, felt like hot lava under her skin. Other side effects were practically unbearable and rendered her immobile. She desperately wanted to stop treatment and it became increasingly difficult to maintain compliance with the protocol.  

Avie’s grandmother put together a “PainBox” to provide encouragement and rewards to get through each injection. This gave Avie the motivation to continue with her treatment and by 10-12 weeks she finally experienced noticeable improvements in her physical ability, endurance and overall comfort level.  

Avie told her mom that she wanted to help other kids like her starting treatment. Nine months later, The Avalon Foundation was formalized as a 501(c)(3).