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.