With Weekly Visits for Their ‘Brain Juice,’ Sisters Annabelle and Abigail Navigate a Therapy for Batten Disease
The Beedle sisters: Abigail, left, and Annabelle, right
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.
Amanda reads to Annabelle during one of her infusion days
‘Something is really wrong’
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.
Baby Abigail during one of her infusion days in March, which happened to fall the week of her first birthday
She, too, harbored CLN2, but wasn’t likely to show symptoms for a couple more years.
Finding hope in a treatment
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 Dr. Sandi Lam, head of Lurie Children's Division of Neurosurgery, talks with Amanda, who holds Abigail on one of their infusion days
“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 and Annabelle share a smile with their beloved neurosurgery advanced practice nurses, Kathy Romanski and Stacy Speck
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.
‘Each day at a time’
The Beedle family: Adam, Amanda, Annabelle and Abigail
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.”
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