Do you love someone RARE?

I always dreamed of starting a family and was beyond excited when I found out I was pregnant. From that moment on the wondering began; will it be a girl or boy? will the baby have my curly hair, my husband’s blue eyes? Our happy dreams and expectations for a perfect baby were cut short when only a couple days after my daughter Sophia was born in November 2015, we found out that she had Pompe disease. Our pediatrician explained that the diagnosis was made through the New York State Newborn Screening. He then went on to say how he did not know anything about Pompe, only that it was a rare genetic disease. That is when our Pompe journey began; the journey that was filled with statements from doctors such as “we’re not sure,” “I don’t know” and “just wait and see.” Not only were we devastated by the diagnosis but utterly scared to hear doctors say such things; our daughter’s health was basically unknown.

Fortunately for Sophia, we are not “wait and see” kind of people and we wanted to be proactive in any possible way we could. Sophia immediately began physical therapy and we became more educated in Pompe and increasingly active in finding ways to help her. In many instances, finding help was a fight and a frustrating struggle. We sought several doctors’ opinions here in New York; to only find more uncertain answers, until we decided to make the trip to visit Dr. Kishnani and her team at Duke University. There we knew we would get the solid, confident answer we were so desperately searching for. Whatever that answer may be, we told ourselves it would be our final opinion and we would trust in Dr. Kishnani’s expert advice. Ultimately, Dr. Kishnani and her team helped us make our final decision; to start Enzyme Replacement Treatment. We knew that ERT was what would save our daughter from the full effects of this disease and allow her to live her life to the fullest. Without Pompe disease being on the newborn screening we would never have started physical therapy early since her symptoms were not alarming to any doctor who examined her; she was just slightly “below the norm,” and we had “nothing to be worried about.” Sophia’s therapist recently told us that she would not have qualified for physical therapy would it not have been for her Pompe diagnosis. Without Pompe being on the New York State Newborn Screening we would not have been able to help Sophia to stay as strong as she could be and definitely would not have been prepared for the unforeseen symptoms that would have inevitably come about. Sophia would have started her Pompe journey “behind the eight ball” and would have lost significant muscle tone that would have been irreplaceable if we started getting her help once symptoms began. Pompe disease has taught us that time is precious and should not be wasted.

We believe whole heartedly, that the newborn screening saved our daughter’s life. The decision to start ERT early, before significant symptoms, has also proven to be the right decision because as of today, her levels are now within normal range. Treatment (in addition to physical therapy) is working beautifully and Sophia is thriving! Being the first baby in NY State to begin treatment having the “late onset” diagnosis was scary in the beginning but we are glad everything is working out and we are able to be pioneers in changing current Pompe protocol with our decision. We are ultimately helping future Pompe babies and their families and are proud to be paving the way; helping others and raising awareness is so important.

Our Pompe journey has been a rollercoaster ride and may continue to be so, but we now have a renewed hope for a brighter, stronger future with our perfect little girl. A future that we hope all children will have the opportunity to achieve and will be able to do so through early detection and early treatment. Because just as time is precious, so is the life of every child.

Thank you for allowing us to share Sophia’s story.