Katherine Belle was born healthy on July 9, 2011. Although she had minor feeding issues, a milk allergy, acid reflux, slow growth, and multiple sets of ear tubes, she was meeting all of her developmental milestones on schedule. Katherine was a happy baby who appeared seemingly healthy to her family and pediatrician.
When her first-time parents noticed how Katherine held her cup with closed fists and had a slight intention tremor while reaching for toys, they became increasingly alarmed that something much more serious was affecting their daughter.
Katherine’s first MRI was ordered one month after her second birthday and showed a malformation of her cerebellum, the area of the brain that controls balance and regulates movement. This explained why Katherine was (and still is) severely off-balance and unable to walk without assistance. The MRS showed abnormal brain chemistry. Together, the results of these two tests indicated a likely metabolic disorder. Based on her rare MRI findings, a group of pediatric neurologists concluded Katherine likely had a rare genetic disease called Infantile Neuroaxonal Dystrophy (INAD).
Her parents were devastated with grief.
Katherine then underwent genetic testing to confirm the INAD diagnosis, which came back negative and thrust the family into an emotionally and physically exhausting two-year diagnostic journey that took them to several prominent hospitals, multiple specialists, and included every diagnostic test available. Two skin biopsies, a spinal tap, a genetic eye exam, EKG, and an EEG all came back normal, including genetic tests and blood work.
However, a second MRI performed one year later in June 2014 – a few weeks before Katherine’s third birthday – showed the disease was progressing in her brain and had taken over her brain’s entire balance center, yet nobody knew what was the cause. Despite all the other normal test results, Katherine’s doctors still felt that her MRI was consistent with INAD.
Yet, her parents did not believe this was an accurate diagnosis based on their own extensive medical research, finding other INAD families around the world and not seeing similarities, and seeking a third opinion from an INAD researcher. At this point, just two possible tests remained, a muscle biopsy and whole exome sequencing. They decided to push for whole exome sequencing with the hope that an accurate diagnosis would be made. You can read more about their experience in the New York Times Motherlode article, “When the Diagnosis Is Rare, Parents May Know More Than The Professionals.”
In February 2015, whole exome sequencing results confirmed that Katherine Belle has a rare form of Mitochondrial Complex 1 Deficiency based on mutations to her NUBPL gene. To date, Katherine is one of 11 patients worldwide reported in the literature. And, like Katherine, all NUBPL patients have been diagnosed through whole exome sequencing following a lengthy diagnostic journey. Since this type of mitochondrial disease was only discovered in 2010, it does not yet have an official name, but those affected typically refer to it by the gene name “NUBPL.”
NUBPL is a progressive disease that causes atrophy of the cerebellum, as well as lesions in other areas of her brain, global developmental delay, ataxia, nystagmus, and speech articulation difficulty.
Katherine is in the extension phase of the EPI-743 clinical trial at the National Institutes of Health (NIH), takes a mito cocktail, and does intensive physical and occupational therapies. She turned six in July and started the first grade in August 2017. She loves her family, friends, teachers, inclusive dance classes, horses, riding her adaptive trike, unicorns, princesses, chocolate, iPad games, and her stuffed bunny, Bibi. She’s a happy, funny, sweet girl with the most determined, independent spirit, who never gives up. She falls down multiple times a day, but always gets back up with a smile on her face. She has made great progress with walking and can now take her first independent steps at age six. More than anything, Katherine wants to run and play with her friends and she fights with everything she can to make that dream a reality.
Her parents are racing against time to find a treatment to slow the progression of the disease and save her life. Despite Katherine’s sunny disposition and conquer the world attitude, the harsh reality is she desperately needs a treatment that does not yet exist. Mitochondrial disease has zero FDA approved treatments and typically affects multiple organs of patients, resulting in an early death.
Her parents are on a mission to change that.
Katherine’s mom, Glenda, is a contributing writer for The Mighty Publication, where she advocates for rare and mitochondrial disease. Additionally, her parents’ advocacy efforts have directly benefitted hundreds of Kentucky children with mitochondrial disease. They were the energy behind a 2016 law that prevents insurance companies from denying coverage for medical supplements known as the “mito cocktail.” Kentucky was the first state in the nation to pass legislation prohibiting denial of coverage. Katherine’s dad, Dave, speaks to various local groups and national organizations about appealing insurance denials and legislative advocacy. Glenda and Dave both serve on the Mito Family Advisory Board at the Children’s Hospital of Philadelphia. They are on a mission to fund critical mitochondrial disease research and eliminate the diagnostic and treatment barriers facing other families on a similar journey.
Katherine is one of the faces of rare disease in a nationally traveling art exhibit, called “Beyond the Diagnosis,” which shows the children behind the diseases. She is her parents’ greatest blessing and the embodiment of Shakespeare’s famous quote, “And though she be but little, she is fierce.”
Meet Katherine Belle’s Parents
Glenda is a Mitochondrial and rare disease advocate, co-founder and executive director of the non-profit NUBPL.org, a contributing writer for The Mighty and the regional blog, HerKentucky, and a freelance photographer. She serves on the Board of Advisors for the NGLY-1 Foundation. She attended the University of Kentucky, where she received a Bachelor’s in English and a Master’s from the Patterson School of Diplomacy and International Commerce. She was a civil servant in her former life.
David is the co-founder of the non-profit NUBPL.org and an attorney for Miller, Griffin & Marks, P.S.C., in Lexington, Kentucky, where he concentrates his practice in the area of civil litigation. He attended the University of Pennsylvania, where he received a Bachelor’s in Finance. He received his JD from the University of Kentucky. He was an Associate Editor of the Kentucky Law Journal and was elected to Order of the Coif. When he is not fighting mitochondrial disease and other villains, David spends time with his family and writing for his blog, Bourbon and Slate.
For more information about NUBPL, please visit NUPBL.org.