Our story begins with a little girl named Angelina. She was born a perfect baby girl, without any signs of a genetic disorder, to happy parents and a proud big sister in Southern Connecticut. As Angelina grew, she went through the ups and downs of early childhood but also battled some health issues that were not so normal. She had many ear infections, was diagnosed with RSV, and started getting pneumonia before age 2. As the next couple years went on, visits to the doctor and emergency room were increasingly common to help with breathing issues, recurring pneumonia, and flu like symptoms. Angelina and her parents went through countless sleepless nights filled with violent coughing spells and vomiting. With very few answers and even less relief from symptoms, they experienced months of hopelessness and confusion as failed treatments and unclear test results continued to give no answers as to what might be causing the issues.
Finally, after all other testing had been done and no clear reason for the continued illness had surfaced, her pulmonologist performed a biopsy of her lung cilia to test for a rare genetic disease called PCD (Primary Ciliary Dyskenesia). It was a long 6 weeks to receive the news, and when a positive result came back, it was a mix of fear of what this now meant, and relief to at long last have a definitive diagnosis, and hopefully treatment. As we all poured through online resources to read about this extremely rare disease we began to feel overwhelmed. More treatments were started, extremely expensive medical equipment was ordered, medications doled out, and the trial and error began anew.
As if all of this wasn’t enough, the family was struggling with very difficult life changes. Angelina’s Dad was the victim of job loss just as her Mom was getting ready to give birth to Angelina’s little brother. The family was forced to sell their home and move out of state to a family home in Georgia to keep afloat. Being away from their doctors, their friends, most of their family and the lives they had known was a huge strain. Thankfully about a year later, a new job opportunity arose and they were able to move back home to Connecticut and to the friends and family that were so happy to have them once again close.
Today, things are looking up. Angelina has since been also diagnosed with an immunodeficiency, is receiving regular plasma infusions at home, and is under the care of the amazing Doctors and Staff at Boston Children’s Hospital, which has a specialized PCD center on the campus. One of the few in the country. Together with the team of Doctors and Nurses, Angelina and her family are learning more and more about her specific case. She has gone through many long drives, blood draws, procedures, and prodding and through it all, she still has kept her fighting personality and brilliant smile.
Those of us who watched this whole process, and walked it with them, felt helpless. We couldn’t do anything to bring any real relief to Angelina, the other kids, or her parents as they struggled day after day with the pain and frustration of not being able to help their child. In the end we decided that there was something good that had to come of all this bad. We wanted to find ways to help Angelina and her family, but also the numerous other families that we knew had to be going through the same thing, not just with PCD but with any number of other rare diseases. We had to act.
What came of that decision is One Breath, One Hope. We began this non-profit with the hope of helping people deal with the struggles that come with rare disease diagnoses. Our goal is to provide financial relief, where we can, to help with travel to reach specialized doctors, medical expenses that aren’t covered by insurance, and anything else that might give these individuals and families a moment of hope and a breath of relief on this long road they are travelling. We are also partnering with research organizations like NORD (National Organization for Rare Disease) to advocate for rare disease research, and utilizing social media outlets to try to connect people to each other and encourage networks of support.
Thank you for your love and support as we look to help change lives and bring hope!
CEO – One Breath, One Hope Inc.