Making Memories
Author A.A. Milne’s beloved character, Winnie the Pooh, once said, “We didn’t realize we were making memories, we just knew we were having fun.” Whether tubing off the back of her family’s boat or playing on her lacrosse team, Ella loves being active and having fun, her mom, Christa, says.
“She does archery and swimming,” Christa said. “She can play sports, run fast, and do anything you can do.”
With their summers off, Ella and her sister have grown up spending summers at their family’s cottage on Lake George in upstate New York. In the fall, they return to their home in Amherst, Massachusetts.
“This summer she’s a mother’s helper,” Christa said. “She’s almost 12 and has tons of friends.”
Being a typical kid wasn’t always a given for Ella. The summer she turned eight, Ella started complaining of feeling full and being too tired to go to camp, which Christa said was unusual. Christa took Ella back to Amherst for a routine doctor’s appointment. When Ella woke up that night pointing to her side and complaining of pain, Christa was sure something was wrong.
“She was in so much distress,” Christa said. “They did extensive blood work and saw that her liver enzymes were elevated.”
Ella was transferred to a bigger hospital by ambulance. But after more testing, the medical team couldn’t figure out what was wrong and suggested it might be a virus. The family went months without concrete answers until Christa took Ella to be evaluated at Boston’s Children’s Hospital. Within hours, doctors there diagnosed Ella with lysosomal acid lipase deficiency (LALD), a chronic and progressive metabolic disease that prevents the body from metabolizing fats.
“It’s very rare,” Christa said. “We don’t know anyone in our family who has it.”
Christa was put in touch with another mother in Boston whose daughters are living with LALD. She told Christa about The Assistance Fund’s (TAF’s) Lysosomal Acid Lipase Deficiency Financial Assistance Program and how helpful it’s been to their family. The program provides financial assistance for out-of- pocket costs for all prescribed FDA-approved treatment for the disease, such as copays, health insurance premiums, and other out-of-pocket expenses associated with treatment — like ground travel costs.
“There is a lot of traveling, and going in for liver scans is frightening,” Christa said. “TAF has allowed us to be freer about paying for a hotel or taking Ella out to eat.”
Initially, Ella needed to travel to Boston twice a month for her infusions. Now, she receives treatment at home.
“Ella is old enough now where she’s a little scared,” Christa said. “It’s stressful enough, so any assistance really means a lot.”
With Ella’s health stable, she can focus on what is most important — being a kid. This past summer, that meant spending time swimming, jumping off rocks into the lake, and enjoying time with her friends.
“She’s very brave,” Christa said. “Thanks to this treatment, Ella is living a pretty normal life.”
