Annabelle, 4, and her sister Abigail, 1, take turns visiting the 19th floor at Ann & Robert H. Lurie Children’s Hospital of Chicago with their mom, Amanda, each Wednesday.
Armed with the girls’ favorite stuffed animals and story books, Amanda aims to make the 8-to-10-hour-long visits to the hospital as enjoyable as possible for her and her husband Adam’s girls. Their daughters will likely be making the same trip to the hospital from their St. Anne, Illinois, home for the rest of their lives.
The Beedle girls have a rare and incurable genetic condition called CLN2, a form of Batten disease. Usually discovered between ages 2-4 when symptoms such as seizures arise, it ultimately destroys a child’s coordination, mobility and cognition. Only about 20 cases are diagnosed each year in the U.S., and children with the condition may live only into their late teenage years.
During the biweekly appointments, Annabelle gets an enzyme injected through a port in her head surgically implanted into the brain by Dr. Sandi Lam, head of the Division of Neurosurgery at Lurie Children’s. Abigail’s port, meanwhile, is in her chest. The enzyme is likely to slow, and could even stop, the progress of the disease and replaces the deficient enzyme (tripeptidyl peptidsase1 – known as TTP1) missing in the children. At Lurie Children’s, the girls are the first to undergo the advanced therapy.
Adam and Amanda had never heard of Batten disease before Annabelle’s diagnosis.
Other than speech delays, Annabelle’s first few years were perfectly happy and healthy until she had her first seizure last January at age three. After a second seizure, the family was referred to an epilepsy specialist, but a third seizure before the appointment brought the worried family right away to Lurie Children’s emergency department.
Initially thought to have a form of childhood epilepsy, medications seemed to help Annabelle function and decrease the amount and the duration of her seizures for a few months. But by October, other scary symptoms started. Annabelle would lose her balance and fall unexpectedly. Her coordination was completely off.
“As a mom, I had this sinking feeling something is really wrong. It was happening really quickly,” Amanda said.
After further testing, Amanda will never forget Dec. 7, 2020, the day she got the call from Lurie Children’s neurologist Dr. Alma Bicknese. Her daughter had CLN2.
“That call forever changed our lives,” Amanda said.
Now knowing both she and her husband were genetic carriers for the condition, the parents decided to have their baby girl who had been born nine months earlier, Abigail, tested.
She, too, harbored CLN2, but wasn’t likely to show symptoms for a couple more years.
Dr. Bicknese referred the family to Lurie Children’s comprehensive pediatric epilepsy program and its specialists, including Dr. Lam.
Already having experience with the enzyme replacement therapy for Batten disease, Dr. Lam worked with the pharmaceutical company, BioMarin, that developed the treatment, to offer it for the first time at Lurie Children’s. For Annabelle, the treatment has begun to slow her regression with walking -- and she was recently doing somersaults across their backyard, Amanda said. Abigail, who turned 1 in March, is the youngest patient in North America to undergo the therapy. The team hopes starting her on the treatments could delay the appearance of CLN2 symptoms.
“We are so grateful; Dr. Lam is not only a tremendous, delicate surgeon but it took only about two weeks from their diagnoses to start treatment at Lurie Children’s. We’re really grateful for that,” Amanda said.
The enzyme takes about five and a half hours to be fully infused. It is generally painless, though Annabelle, the older girl, sometimes struggles with nausea. Amanda said she tries to help her understand that getting her “brain juice” is something she needs to do to keep her body healthy, just like brushing her teeth.
Lurie Children’s premier neurosurgery team, especially advanced practice nurses Stacy Speck and Kathy Romanski, and registered nurse Bryan Johnson, help keep the girls comfortable. Kathy sings Annabelle’s favorite song as she connects the infusion to her port, and Amanda brings an oil diffuser and nursery music to the room to keep a tranquil atmosphere.
Amanda and Adam, a Local 1 iron worker, focus every day on being fully present with their daughters as much as possible.
Amanda homeschools Annabelle and takes both girls to equestrian therapy, where they love being around the horses. Annabelle adores pink, princess costumes and playing with her smiley baby sister.
Amanda hopes sharing her family’s story helps spread awareness of the rare disease and the need for more research to find a cure. She is thankful for the Batten disease community for their support. There is never an infusion day with her girls during which she doesn’t think about the families, and their children, who never got an opportunity to benefit from the enzyme treatment, she said.
The faith-filled family also give thanks to God and their family, friends and community for the grace and strength they feel in managing the girls’ years ahead, Amanda said.
“I have to really challenge myself to be in this moment with my family and with my daughters, to take each day at a time.”