"Adults living with late onset Pompe disease can be very different than children with the infant onset type of Pompe. It's often an "invisible" illness and you can go years being misdiagnosed with more common ailments. The early symptoms are usually difficulty climbing stairs, trouble standing from a seated position and shortness of breath. It's difficult for others to understand because you don't "look" sick. It's hard to explain how you can walk shorter distance and can't walk around the block or up a hill. Personally I've found support in others also living with Pompe is so very important. They really get what the struggles are and we have formed a bond like family. Keeping a positive attitude is key to living life to its fullest with Pompe even if it takes a little more time to plan your adventures!"
Sarah and her son, Bruce:
"Life with Infantile-onset Pompe is never-ending! And why would you want it to end?! Our son Bruce was diagnosed in 2011 and what a ride it’s been ever since – each day brings new worries and fears but also it brings joy and peace, if you know where to look for it. Our “normal” is like nothing you’ve seen before but it’s ours and we cherish it! Weekly enzyme replacement therapy (ERT) has been our biggest commitment and challenge yet but it’s the best they can do until new gene therapy and second generation ERT comes down the pipeline. Our prayer is always for a cure but how thankful we are for the current options and the community we have so no one fights this battle alone; together we are Pompe strong! Bruce is an active and ornery boy who has the biggest heart for his family and our ranch life; he is our lives’ biggest blessing!"
Jennie and her daughter, Sophia:
"My daughter Sophia was diagnosed with Pompe Disease at birth, based on the NY newborn screening. We were beyond devastated and had no idea what to expect or what Pompe even was. Little did we know, that it would be a difficult road ahead and our Pompe rollercoaster would begin. Doctors had few answers and no one seemed to know what to do. We were told to “just wait and see” since Sophia was diagnosed with late onset Pompe and symptoms weren’t prevalent other than her having low tone and a slightly elevated CPK level and liver levels. The scariest part of her diagnosis was not having definite answers and not knowing what could happen or when. Each day we lived with anxiety, worrying if “today would be the day” we would see signs of Pompe. We did not know what to do or know who to turn to for help. Fortunately, the members of Pompe Facebook groups guided us in the right direction...and that direction was toward Duke and Dr. Kishnani. We couldn’t bear to “just wait and see” and watch her muscles deteriorate slowly, so we made the difficult decision to begin ERT treatment on the recommendation made by Dr. Kishnani and her team. At 9 months old, Sophia had port surgery since she would be receiving treatment every two weeks. The Pompe diagnosis was devastating enough and having the port surgery was just as traumatic. It was very difficult to keep a brave face and have the strength to carry on. We then began treatments soon after, every two weeks, driving over two hours to have ERT treatments in New York City, spending hours infusing at the hospital and then driving over two hours back home again. The entire infusion day was physically exhausting and emotionally draining. We continued that routine for about a year until we were able to transfer to home infusions. Currently, Sophia is doing well with her infusions and she receives PT and Speech therapy twice a week through Early Intervention Services to ensure continued physical strength and progress. She is a bubbly, happy, smart little two year old who loves playing with her toys, watching her favorite tv shows and dancing to music. I now tell myself that as long as Sophia wakes up happy then we should be happy too and save the worrying for when it’s really necessary. Though Pompe has changed the definition of what it means to be “normal” for us, it has helped us to grow stronger as a family and to appreciate the little things in life so much more than before."
Casey and her son, Teddy:
"Without newborn screenings, at some point in my son's life he likely would spend a decade (yes a decade) in declining health and search for a diagnosis. Teddy was among the first few infants diagnosed with Late Onset Pompe Disease through Missouri’s newborn screening panel. He has a variant of unknown severity. What that means for him no one knows exactly. He could begin displaying symptoms tomorrow, through late adulthood, or never even. He currently at two and half years old does not receive Enzyme replacement therapy as he is not yet displaying any apparent symptoms but because of this information we have the opportunity to be proactive, bi-annual genetic checkups and labs(occasionally traveling for these), yearly check-ups with lots of other specialists to keep a close on eye on him, regular PT to keep an eye on strength, monitor for any regression and keep him as strong as possible. Taking these steps along with others, should set him up for success as he can begin ERT before declining. This is HUGE. I’ve been asked what it’s like as a parent living with this information about his health and his future. Becoming a parent and loving this perfect new human while trying to also balance the grief of a rare diagnosis and very uncertain future, was devastating, and in the beginning consuming. On top of the sadness at what this means for our son, also what it means for future children. Living every day with these fears not far from our minds, it is a heavy weight to carry, a weight that has gotten easier over time. But it is a weight that I am MORE than willing to carry knowing that it will make things better for him. I believe that any Rare parent or person on any part of their journey, would agree that this is much more a blessing than a burden. My biggest concern at the moment is when and how to tell Teddy. Overall we try to stay positive. We are so beyond thankful that of all the rare diseases to be diagnosed with, it is one with a treatment(and a “late onset" type at that) and for newborn screening, because I know SO many aren’t as lucky. And with the current happenings in the rare disease world we have so much hope for his future. This past few years has taught us much, mostly about gratefulness, appreciation for the small things and love. Casey and her family live in St. Louis. "