Harper’s Story

Harper was born, along with her unaffected twin sister Riley, after an uncomplicated delivery on May 6, 2014. She was a beautiful baby who was normal in every way. Around six months of age, Summer and I noticed that she was a little delayed in sitting up and rolling over compared to her sister. We just assumed two different kids, two different speeds of development. At one year, we realized that the delays were significant, and started to reach out to doctors for some answers, and started down the road of occupational and physical therapy. We were still confident that delay simply meant delay, and that she would eventually catch up.

Our first real shock came at age fourteen months, when Harper had her first seizure. She barely breathed and turned blue before our eyes. EMS responded rapidly and took her to the hospital, where she was diagnosed with febrile (fever-related) seizures, which are not that uncommon in babies her age. We took her to several neurologists, and multiple EEGs showed abnormal brain waves consistent with epilepsy. Genetic testing of various types was performed but was always negative. Therapy helped, but she still remained unable to speak more than a few words, prone to seizures, and very delayed in overall development.

It was not until Harper was 3 ½ years old that a neurologist suggested genetic testing of her entire genome, a process which took 3 months to complete. It was then that we first learned that Harper had a rare disease called BPAN, Beta-propeller Protein-Associated Neurodegeneration, a disease only discovered in 2012 and of which there were less than 500 known cases worldwide.

We were heartbroken to learn what BPAN does. Children will slowly gain skills and progress until their late teens, then begin to lose those skills and develop dementia and parkinsonism as young adults. Without some treatment, our beautiful baby daughter was destined to a shortened young life with little hope.

As a physician and nurse couple, Summer and I have pledged to do whatever is possible to help further research and develop treatments for BPAN and other rare genetic diseases. We therefore started Harper’s Hope, The Roth Family Foundation to direct funding toward gene replacement and correction projects, which will be applicable to BPAN and scores of other rare genetic disorders.

Harper is now a vibrant, happy, energetic 8 year old girl entrapped in a 3 year old’s mind. What she lacks in communication skills and understanding is made up by her zeal for life at any stage. She loves her family, friends, teachers and classmates, and she in turn is loved back ten-fold. We look forward to the day that medical therapy can correct her damaged gene and allow her to continue to love and be loved.

We believe in miracles. Please join us in this faith, and help in any way you can.