Nora’s Ninjas

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Hi, we are the Conta Family and we are from Buffalo, NY! Our three daughters are our life. Arianna(16), Karina (15), and our youngest Nora is 6 years old who was diagnosed with Pitt Hopkins Syndrome in October 2022. Nora was born on December 22nd, 2016 weighing in at 7lbs 7oz. Just around 6 months old we had Nora evaluated with Early Intervention and we were told that she was at the developmental level of a two month old. That is when we started our journey towards a diagnosis, trying to figure out what was causing her delays. Nora immediately started physical and occupational therapies. Soon after, we added speech, vision and music therapy to her schedule.

During this time we visited multiple specialist, including the genetics clinic, neurologist and a developmental doctor. All of whom started to call Nora “The Mystery Girl.” After years of testing and being followed by her specialists, we took her to have the micro array genetic testing, blood work, MRIs, EEGs. After being denied multiple times for exome sequencing and genome sequencing,we joined the RARE GENOMES PROJECT (https://raregenomes.org) Nora was accepted into the research program and all her genetic testing was covered by the project.

We waited 11 months for the first round of research to learn “no findings” were found. This news would naturally sound like a blessing for most because who wants to hear “something is wrong?” But we knew there was “something” and didn’t give up. We visited a low vision clinic and learned Nora had CVI a vision impairment. We also visited a immunoglobist and learned that Nora has an auto immune disorder. This was just weeks before the world shut down due to COVID. We locked our family down in our home for 18 months, and had to learn how to care for our special daughter “on our own.”

Nora didn’t receive any therapies during this time. Her sisters stepped up and we became closer as a family to help each other out, but most importantly to keep Nora safe. Not knowing what “was wrong” with our daughter had us living in fear that something would happen to her and we would never know the cause of it.

In April 2022, we received a call from the Rare Genome Project asking if they could reopen Nora’s medical file. A new scientists joined the team and had picked our girl’s case. On October 13th, 2022 we got the call we had been waiting for. “We have a diagnosis for your daughter, grab a pen because it’s so rare and only 500 individuals in the world have what your daughter has- its called PITT HOPKINS SYNDROME.” We later met with her genetic doctor only to find out that we do not have a single doctor in our area who has ever heard of this condition and would have to travel to Boston, MA to be seen.

Currently, Nora attends Aspire Center for Learning for children with disabilities. This is her third school year there and she is showing slow progress. She loves being with her friends and teachers. She enjoys music, her favorite band is VOLBEAT and she loves to play with any toys that light up! Nora is currently enrolled in therapeutic horseback riding and is really enjoying it. At 6 years old Nora does not walk, talk or feed herself. She works very hard everyday and receives many different therapies to help her. Our daughter needs a miracle, we do not know what to expect for the future. Please consider donating to the Pitt Hopkins Research Foundation to help find a cure! The button below is a fundraising portal just for Nora. Any donation made will be pledged in honor of Nora. Please share our story and help us spread awareness. We hope with your help a cure will be found and we can see our daughter walk, run, climb and sing all her favorite songs! We dream of the day we can hear her voice!

Donate today in honor of Nora!

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The Pitt Hopkins Research Foundation is a Section 501(c)(3) non-profit, tax-exempt organization designated under the Internal Revenue Code, and this donation is tax-deductible to the fullest extent of the law. The PHRF Employer Identification Number is 46-0770142. Thank you!

Team RennaPitt Hopkins September 2023 Newsletter
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