The Story of Nora’s Ninjas

Hello, we are the Conta Family from Buffalo, NY. Our three daughters, Arianna (16), Karina (15), and our youngest Nora (7), hold a special place in our hearts. Unfortunately, Nora was diagnosed with Pitt Hopkins Syndrome in October 2022. Nora was born on December 22nd, 2016, weighing 7lbs 7oz. At just 6 months old, we had Nora evaluated by Early Intervention and were informed that her developmental level was equivalent to that of a two-month-old. This prompted us to embark on a journey to find a diagnosis and understand the cause of her delays. Nora immediately began physical and occupational therapies, and later, speech, vision, and music therapy were added to her schedule.

Throughout this process, we sought the expertise of various specialists, including geneticists, neurologists, and developmental doctors. Nora became known as “The Mystery Girl” among her medical team. After years of testing and continuous monitoring, we decided to pursue microarray genetic testing, blood work, MRIs, and EEGs. Despite facing multiple denials for exome sequencing and genome sequencing, we joined the RARE GENOMES PROJECT (https://raregenomes.org), where Nora was accepted into a research program that covered all her genetic testing expenses.

We patiently waited for 11 months for the first round of research results, only to learn that no significant findings were discovered. While this news may seem like a relief to some, as it implies that nothing is wrong, we knew deep down that there was still something we hadn’t uncovered. During this time, we sought additional consultations, such as visiting a low vision clinic where we discovered Nora’s CVI (vision impairment) and consulting an immunologist who diagnosed her with an autoimmune disorder. These revelations occurred just weeks before the COVID-19 pandemic forced us to isolate ourselves at home for 18 months. We had to adapt to caring for Nora without the assistance of therapies, relying on the support of her loving sisters and strengthening our family bond.

Throughout this challenging period, we remained determined to find answers and provide the best care for Nora. We were committed to keeping her safe and ensuring her well-being, even in the face of uncertainty.

April 2022, the Rare Genome Project reached out to us, requesting permission to reopen Nora’s medical file. A new member had joined their team and had taken an interest in our daughter’s case. On October 13th, 2022, the call we had been anxiously awaiting finally came. “We have identified a diagnosis for your daughter. Please grab a pen because it’s an extremely rare condition, with only 500 individuals worldwide having what Nora has. It’s called PITT HOPKINS SYNDROME.” Subsequently, we met with her genetic doctor, only to discover that there wasn’t a single physician in our vicinity who was familiar with this condition. As a result, we would have to travel to Boston, MA to seek medical attention. Currently, Nora is attending the Aspire Center for Learning, a school specifically designed for children with disabilities. This marks her third year at the institution, and although progress has been slow, she thoroughly enjoys the company of her friends and teachers. Nora takes pleasure in music, with VOLBEAT being her favorite band, and she delights in playing with toys that illuminate. Additionally, she is enrolled in therapeutic horseback riding, an activity she finds great joy in. At the age of 6, Nora is unable to walk, talk, or feed herself. However, she perseveres diligently, undergoing various therapies to aid her development. Our daughter is in need of a miracle, and we are uncertain of what the future holds. We kindly request your consideration in donating to the Pitt Hopkins Research Foundation, as your contribution could help pave the way for a cure. The button below serves as a fundraising portal dedicated solely to Nora. Any donation made will be made in honor of her. We implore you to share our story and assist us in raising awareness. With your support, we hope to witness the day when Nora can walk, run, climb, and sing along to all her favorite songs. We yearn for the moment when we can hear her voice!