Small Fiber Neuropathy: Bella's Story
Patient Story Highlights
- Bella's mysterious illness caused her to have unexplained symptoms that impacted her normal activities, and eventually led to numbness in her arms and legs, resulting in limited mobility.
- After seeking out specialists and numerous hospital visits, Bella's family found an answer to her mystery illness at the Johns Hopkins All Children’s hospital in Florida.
- Bella's treatment involves periodic infusions of intravenous immunoglobulins (IVIG) to replace the ones her body makes, and although her treatment is ongoing, she remains hopeful for the future.
On a sunny Florida day, Bella walks into an exam room followed by her mom, Megin, brothers Benny and Sammy, little sister Maggie, and her dad, Phil. Their matching T-shirts proudly proclaim they are “Built Duff Tough,” a phrase the North Carolina family coined as a testament to years of juggling complex medical conditions.
For Bella, the key word here is “walk.”
Her story began about two years ago when she started to have random periods of dizziness, ear pain, headaches, neck pain, joint pain and swelling, and hearing and vision troubles. These unexplained symptoms soon began impacting her normal activities. Horseback riding, dance class and her active 11-year-old energy slowed to a halt.
Months later, extreme fatigue and severe dizzy spells led to a drastic turn. Bella unexpectedly began to experience periods of numbness in her arms and legs. That was just the tip of a frightening and mysterious iceberg.
“The scene always plays out in slow motion in my head,” Megin says. “I was on hold with the pediatrician about her dizziness, and I saw her standing wrapped in her blanket. As I got up to help her, she started to fall backward. The back of her head hit the wall, and she fell to the ground.”
Bella was conscious, but her vision was blurred and within minutes her arms and legs were numb. Rushed by ambulance to the local hospital, scans ruled out traumatic injury. With no feeling in her arms, tongue or legs, it was a struggle to communicate. Though most feeling returned by the next day, her legs did not respond. Bella went home in a wheelchair.
For an energetic kid to suddenly end up with limited mobility was a heartbreaking blow. To keep her spirits up she found creative ways to move about her home. Bella also started dance therapy, horse therapy, aquatic therapy—all activities she loves—and cognitive behavioral therapy to try to retrain her brain to recognize her legs. Though the strength was there and she was mobile with the help of a walker, the feeling in her legs was not returning.
Megin and Phil continued searching for answers as many of Bella’s symptoms continued to become more severe. Despite seeking out specialists and numerous hospital visits, they often found themselves with more questions than answers.
What was causing these strange symptoms? Would Bella ever be back to her active lifestyle?
In It Together
The discussion during a normal family dinner one evening revolved around the topic of “If you could trade lives with anyone, who would it be?” The answer was far from the expected. Benny, third oldest of the siblings at just 9-years-old, voiced without hesitation that he would trade lives with Bella so she wouldn’t have to live with her condition.
Saying the family is close-knit is an understatement. They are always together, including traveling between the family home in North Carolina and St. Petersburg, Florida, for Bella’s treatment. Beyond acting as an integral part of her support system, Benny and Sammy played an unsuspecting role in shaping Bella’s path. Both brothers have complex medical conditions and over the past seven years George Jallo, medical director of the Johns Hopkins All Children's Hospital Institute for Brain Protection Sciences and chief of Pediatric Neurosurgery, has been consulting on their cases.
When there seemed to be no one else to turn to, Megin reached out to the trusted neurosurgeon for advice on Bella’s case. This time Jallo offered more than just advice: a team assembled and soon the family was on its way to Johns Hopkins All Children’s.
“This is why we travel. We don’t really trust anyone else at this point,” Megin adds. “He saw a child who couldn’t live her life at all and made it a mission to make her well.”
For nearly a week, the family made its home on the hospital’s neuroscience unit. Bella underwent extensive testing, including a skin biopsy. This test held the answer to her mystery illness: small fiber neuropathy. To finally have an answer was an emotional moment for the whole family.
“We had faced doctor after doctor and specialist after specialist who could not explain to us what was happening to our child,” Megin explains.
Small fiber nerves are the small short nerves of the body that help in managing many automatic functions and also are throughout the skin. A small fiber neuropathy is damage to those nerves. Small fiber neuropathy may either be related to genetics or have no apparent cause. Nerve damage can also come from metabolic issues, infections or autoimmune disorders.
In her case, the cause seems to be an autoimmune issue. The immunoglobulins—or antibody proteins—her body creates don’t function in the way that they should and attack her nerves instead of pathogens. To correct this, her treatment involves periodic infusions of intravenous immunoglobulins (IVIG) to replace the ones her body makes. The IVIG treatments will help prevent new nerve damage and allow Bella’s body to repair itself.
One Step at a Time
Like all journeys in life, there have been ups and downs. Bella’s treatment is not always easy. Every two weeks she receives the IVIG therapy at home via a subcutaneous infusion involving four to six needles in her abdomen. This is expected to last for at least a year with follow-up trips to Florida every two to three months. With this treatment, side effects are less intense and she can make it between treatments with no relapse.
While Bella has started on a road to recovery, there is still much to learn about small fiber neuropathy in children and how to most effectively treat it.
Bella and her family remain hopeful for the future.
After one round of treatment, Megin recounts a family trip to a museum. Bella would normally struggle to walk, but this time she was keeping up with family and even had enough energy to take on a rock wall. She is riding a bike again after nearly a year of being unable to and even danced down the local Christmas parade’s 2-mile route with her dance studio.
“We spent so much time watching her down in the bed all the time, in and out of the hospital, living in a wheelchair, and having doctors just kind of throw their hands up,” Megin says. “Now we are getting our daughter back.”