Unbreakable Family Ties

Tennis great Serena Williams once said, “Family isn’t everything. It’s the only thing.” A grandmother of seven grandkids, “Granny Janni” knows family is central to her life in Peoria, Illinois. With one child obtaining a master’s degree and two others completing their doctorates, Janni says she’s proud of her “little smarty ones.”

Thanks to her treatment, Janni and her husband, Tom, can continue to spend time together, cooking meals, going out to eat, and sharing their gratitude.

“The gene pool is pretty good there!” she said.

Since retiring as a nurse, Janni loves nothing more than a good book and a delicious meal. For over 20 years, she and other mothers in Peoria have gotten together for a monthly book club. And with the invention of audiobooks, Janni can multitask, listening to her book while she puts ingredients together. When the family comes over for GiGi’s noodles (named after her mom) or Italian pizzelles, they know they will enjoy a meal made with love.

“It just takes love and time,” Janni said.

It was Janni’s family that kickstarted her diagnostic odyssey. At just two years old, one of her grandchildren lost two of her bottom teeth. It was déjà vu — her son, Andy, had gone through the same thing as a child. Janni’s granddaughter’s dentist immediately connected the dots and knew something was wrong; she needed to see her pediatrician right away to get genetic testing. The cause? Hypophosphatasia (HPP).

“I wish I would’ve known I had this sooner,” she said. “But my doctors and dentists hadn’t heard of it either.”

When the family comes over for GiGi’s noodles (named after her mom) or Italian pizzelles, they know they will enjoy a meal made with love.

Hypophosphatasia is a rare genetic disease impacting the development of bones and teeth. Having suffered from unexplained symptoms all her life, Janni, too, was tested and discovered she carries the LPL gene mutation, a key indicator of the disease. Myriad health complications Janni had faced over the years, including stress fractures, numerous cavities, and rib injuries, suddenly made sense.

“For 68 years, nothing threw up a red flag,” she said. “I was a nurse for 40 years and never heard of hypophosphatasia.”

To afford the cost of her hypophosphatasia treatment, Janni applied for The Assistance Fund’s (TAF’s) Hypophosphatasia Financial Assistance Program in 2022. The program provides financial assistance for the out-of-pocket costs for HPP, including health insurance premiums, incidental medical expenses, and copayments for her HPP treatment, which costs $149,o00 a month before health insurance.

“That’s more than we make in a year!” Janni said.

Thanks to her treatment, Janni and her husband, Tom, can continue to spend time together, cooking meals, going out to eat, and sharing their gratitude. Lately, Janni’s also started to advocate for the HPP community, calling herself a proud HPP warrior. The copay assistance from TAF, Janni said, makes an incredible difference for her family now that she and Tom are retired.

“TAF saves me $480 a year,” Janni said. “That’s a lot of money when you’re on fixed income.”