By Erin, Hypophosphatasia, United States, May 7, 2020
Avalon (Avie) has a rare genetic disease, Hypophosphatasia (HPP), that is characterized by the abnormal development of bones and teeth.
Avie, who is all too familiar with HPP, explains it in layman's terms: “A person with hypophosphatasia doesn’t have the enzyme to deliver calcium to the bone, so their bones are hollow and they can’t do everyday activities.” It’s for this reason that HPP is commonly called “soft bone disease.”
Growing up, Avie explains, “I couldn’t do any physical activity without getting too tired. I couldn’t run or jump. I couldn’t get off the ground without using my hands. I was in a lot of pain...all the time.”
“I was like a bird,” she laughs. “You could see my bones on the outside of my skin. My knees went backwards when I walked, and I was in a wheelchair every day for a couple hours. I could walk for about 10 minutes, but then I needed to sit down.”
In 2015, the FDA approved a new HPP treatment: Strensiq (asfotase alfa), the first approved medical treatment for perinatal, infantile, and juvenile-onset HPP. Avie, who was 10 at the time, began the weekly, subcutaneous injections of the bone-targeted form of TNSALP replacement therapy that promised to improve her quality and length of life.
HPP treatment is dependent on weight, Avie explains, and her treatment included two shots at a time, three times a week. The treatments were injected under the skin in her abdomen. It goes without saying that these treatments were “extremely painful.”
Avie confides, “I wanted to quit so many times, but my family kept me going. I knew if I stopped, I’d have a much shorter life span; my life expectancy before treatment was 27.”
“After going through the pain and agony and getting over the hill of the 3-month mark, I started seeing results,” she recalls. “Now I can run, I can jump...my knees don’t go backwards when I walk! I have normal-colored skin; I’m not so pale. And you can’t see my bones!”
That’s when Avie came up with the idea to start a nonprofit to support other kids enduring painful HPP treatments. She shares, “If it was that hard for me at 10, I couldn’t imagine how younger kids -- 2 or 3 -- would be able to understand that the agonizing treatment was necessary and would make their lives better in the long run.”
One thing that helped give Avie the courage to continue on was a “Pain Box” that she received from her grandma. The box contained incentives as rewards for completing treatments each week, and Avie decided she wanted to do the same for other kids because she found it so beneficial.
Deb Ayres, Avie’s mother and the President of Avalon Foundation, laughs, “Avie asked for a year to start a foundation to help other kids with rare diseases. She found out about another HPP kid from Sandusky, saved up all of her allowance, and sent him his own Pain Box. And she wanted to do that for others.”
“For her birthday, which is on Halloween, she asked for one thing: a foundation,” reminisces Deb. “When Christmas rolled around and she still didn’t have her nonprofit, she said, ‘I don’t want to see anything under that tree except my 501(c)(3).’”
“So we got the initial stuff filed and wrapped the papers up and put them under the tree!” smiles Deb. “We formalized the Board of Directors and the Kids Caring for Kids (kc4k) Advisory Board and officially founded The Avalon Foundation of Toledo on April 19, 2017.”
The Avalon Foundation of Toledo currently focuses on supporting kids with HPP through the first 90 days of their treatment, which gets them “over the hump” to where they begin to see the benefits of treatment, but injections continue for the rest of their lives.
Avie says, “My personal goal is, first of all, to help these kids going through painful treatments, but I’d like to expand to other rare diseases and help them however they need it. Secondly, my mission is to teach the next generation leadership skills and public speaking. Not many kids get to talk to large corporations as a kid, and the ones who do have done extremely well in their careers.”
Then she adds, laughing, “And the Kids Caring for Kids board would love to be on The Ellen Show!”
The Avalon Foundation is unique because it is truly kid-driven. The kc4k Advisory Board, made up of kids ages 10-14, determines their plan of action for each patient: what incentives should be included in the #PainBox for the patient and his/her family, when to send out monthly cards from the kc4k team, and who will call, text, and FaceTime each patient to offer support.
Avie summarizes, “The adults (the Board of Directors) oversee and make sure everything is going good. They may give us ideas, but we put them into action. They raise money for what we need, they give us dates for speaking at corporations, they look at finances to say, ‘Yep, you’re good.’”
“And we do everything else,” she continues. “We do the day-to-day work, all the planning, shopping, packing and patient support.”
Deb adds, “Kids Caring for Kids is a safe place for these kids to grow, to learn leadership and empathy. How many kids can present to hundreds of people at a large corporation?”
“The kids learn leadership, compassion, commitment, and contribution (LCCC),” Deb continues. “Their contributions are making the world a better place.”
Deb recalls a story from one of their HPP patients: a 10-year-old boy was getting bullied at school. He was strangled, mocked, and teased. Students on the bus would say, “Don’t sit next to him; you will get his disease!”
One of the kc4k board members learned about the young boy’s story and was moved to reach out to him. He gave the boy three of his own prized Pokemon cards: the first Pokemon card he ever received, the young boy’s favorite Pokemon, and a really “rare” and valuable Pokemon card.
Deb says, “These kids are learning how to be empathetic. They’re asking themselves, ‘How can I empower myself to make someone feel better?’ And then they go out and do it.”
For more information, visit kidscaringforkids.org.