Saving Belle & Abby

Belle and Abby Andrews are happy, full-of-life, engaged, adventurous, curious, strong, brave, and loving sisters living with Niemann Pick Type C in Austin Texas. They were diagnosed in March of 2016 following a diagnostic odyssey for older sister Belle that spanned several years and included appointments with at least a dozen medical specialists. When Belle was finally diagnosed with NPC through whole exome sequencing just eight days shy of her sixth birthday, she was struggling to keep up with her peers. Prior to diagnosis she was described as adorable but clumsy. She loved to talk and asked a million questions, but her speech was slushy and difficult to understand. She had a tremor and the ever-persistent swollen spleen. As we sought guidance from specialists beginning at three years old, we were always advised that Belle was “within normal limits” and “not to worry.” When younger sister Abby, who was just 20 months old at the time of diagnosis, was confirmed to have the same genetic condition, we were shocked and our pain more than doubled.

Within months of diagnosis Belle was enrolled in the clinical trial of IT Cyclodextrin. We were so relieved because she was tripping and falling 3-6 times a day and at the time it seemed like she was losing the ability to walk. As we began our routine of flying back and forth to Chicago every other week, we prayed that Belle was receiving the drug and not the placebo. After Belle was enrolled into the trial, we began intense conversations with NPC expert clinicians about starting Abby on IT treatments, as well. We believed it was imperative to treat Abby BEFORE disease manifestation but there were reservations because the youngest patient receiving IT Cyclodextrin at the time was four years old. The other confounding factor was that Abby didn’t have any visible signs or symptoms of NPC. We pressed the clinicians hard to begin treatments for Abby and on May 20th, 2016, Abby received her first IT infusion of IT Cyclodextrin just one month prior to her second birthday.

Today, Abby is 7 years old and it has been over FIVE years since she began bi-weekly infusions. Abby remains without any visible signs or symptoms of the disease. The treatments have held NPC back and as a result she loves school, speaks two languages, dances, rides her bicycle and scooter up and down our street, she sings loudly and with enthusiasm, loves gymnastics and swimming and takes her 5-pound poodle with her everywhere she goes. There isn’t a day that goes by where we have regret about starting treatments with IT Cyclodextrin before disease manifestation. We have kept Abby’s dose low and her hearing has remined in-tact. She loves the hospital staff like they are family and understands that treatments are necessary to continue being able to do all of the things she loves doing.

Belle lost the ability to walk while she was on the placebo in the clinical trial. In January of 2017, she was moved into the open label extension and within months of her first infusion, she stabilized. Belle had hearing loss related to disease progression prior to beginning treatments with IT Cyclodextrin, but that has stabilized, too. While Belle doesn’t walk independently, we don’t use a wheelchair at home. She walks with assistance and is quite strong and does yoga every day. She also rides a stationary bike every day twice a day at home. Belle goes to school and is engaged with her life-long friends in her Montessori classroom. She also speaks two languages, is great at math, does physical therapy three times a week, and loves talking with people about their families and pets and travels. She is an absolute joy to be around and a delight to talk to.

Zavesca was added to their arsenal in 2018 and we have seen great benefits from adding that medication, as well. From what we see in our daughters, we agree with NPC expert clinicians that NPC requires multiple therapies treating multiple pathways. We believe that if IT Cyclodextrin is taken away from Belle and Abby they will begin to rapidly decline and lose the stabilization that this drug has provided. We pray that you can help us avoid participating in that study.