Perspectives of The Pompe World

Stephanie Clubb is a mother from Wisconsin and a total powerhouse in my personal opinion. She is a fierce advocate and inspiring woman in general. Her family’s unique story is one that always gives me so much hope and adoration and touches specifically on one of the last posts published here discussing multiple dianoses within a family. She shares her story ever so eloquently as follows:

“When Gwendolyn was born, we settled into large family life rather seamlessly. She was our sixth child, so we felt a little like masters at multitasking our everyday lives when we welcomed her home. A week later, we received “The Phone Call” that would forever change our family. The Pompe diagnosis of our youngest daughter came like a punch to the gut …. it literally left us breathless. After a mix of crying, praying, explaining what little we knew of Pompe disease to Gwendolyn’s five older siblings, and a quick (but beautiful) baptism …. four days later we were traveling to Madison and meeting with our first genetics team.

As parents, were trying our best to absorb the information given to us that day, but many newly diagnosed families can attest to the fact that those first few days, weeks (months even) are somewhat foggy. Gwendolyn had three older bothers and two older sisters, so teary-eyed parents asked the hard question~When can we test our other kids? When I say asking that question was hard, I mean it was as if there were butterflies in my stomach, my throat was as dry as the desert, and tears were literally streaming down my face when we asked Dr Rice. When. Can. We. Test. The. Other. Kids? Mike and I took home five test kits, along with some instructions, and heavy hearts that same day. I took pictures as I swabbed five cheeks the next morning. I remember thinking that no matter the results, this was another aspect of Pompe disease. It affects the entire family whether they have it or not. It was part of a journey we never thought we would be on. Five test kits were sent via Fed Ex out-of-state and our waiting began. Weeks went by. I had my phone in my pocket, or inside the baby carrier every second during those long days. Waiting for those results was like living our days in a haze.

The rest of the world kept going~ oblivious that our family was STRUGGLING and barley holding our heads above water, waiting for life changing news. School. Work. Mass. Bills. Grocery shopping. Laundry. Dishes. Dinners. Bedtimes. They were all done somehow, although I’m not quite sure on the quality or consistency of some of those tasks …. but they were done, and the kids were loved on and hugged multiple times during the days. We emailed our genetic counselor regularly with questions that would come up as we processed Gwendolyn’s diagnosis in between her appointments. We weren’t on any social media platforms back then, so our information on Pompe disease was coming from her experience, and the internet. I took SO many pictures during those weeks we waited. Looking back through them, I can see faint reminders of the fear Mike and I had for each of the kids. Unanswerable questions to their futures shook us to the core. Then there’s the faith that shines through in the pictures of each of Gwendolyn’s siblings holding her, rocking her, or kissing her little forehead.

On October 16th, 2017 I received the call we had impatiently been waiting for. I recognized the area code as a Madison number and handed a sleeping baby off to Mike so I could take it. Our genetic counselor had news for us. I looked over at Mike as the school bus was pulling up to the driveway. Receiving the news that Gwendolyn had two older brothers with late onset Pompe disease was something we had anticipated, but nonetheless were not prepared to hear. Are you ever truly prepared for a rare diagnosis? It was our oldest son’s thirteen birthday. He had just been diagnosed with a rare disease and had no idea. We watched him carry a football off the bus and play catch with his brothers. We gave each other a hug, and took that brief moment to regroup before they wandered into the house for birthday celebrations. That evening, we found a newfound strength that we didn’t realize we were capable of. We sang, we opened presents, ate ice cream, and simply celebrated our teenager. All of it without shedding a tear or moaning about how unfair life is sometimes. As my parents walked out to their car that night, I followed them outside and let them know two more of their grandchildren had a disease we knew very little about. I saw my mom break down and it hurt my heart to see. As my dad quietly stood and shook his head, he asked how I could be standing there so calmly. I remember shrugging my shoulders and simply saying that we have six kids who needed us, and that we would get through it.

And we have.

Our family HAS gotten through the last four years~Together. Stronger. Faithfully. It hasn’t been an easy road. Not by a long shot. I think this was especially true at the very beginning of our rare journey because: 1) We had three kids diagnosed within weeks of each other and they were at different ages and different maturity levels 2) We have three kids who aren’t even carriers for the rare disease their siblings have. 3) We were trying to live our diagnosis out in the open with family and friends. This made it tough to answer questions that we didn’t have the answers to, and harder to hear those close to our family tell us that Pompe disease ‘wasn’t a big deal’ and that they ‘looked healthy’. T O U G H.

Four years on this rare journey, and I can honestly say we tend to live in the small moments life throws at us. In the everyday happenings that can only come from having a big family. The crazy chaos that ensues most evenings is welcomed. I try to hold these memories close to my heart as the kids continue to grow older. I think Mike and I also parent our seven kids differently after Pompe entered our lives. Yes, seven kids now. Our large family grew by one more when baby #7 blessed us in October of 2018 (he was tested through Wisconsin’s pilot study on Pompe disease from the newborn screening). We appreciate the fragility of life, and are grateful for each day~We admittedly took these for granted before. Seven kids. Three rare disease diagnoses. Sprinkle in some faith, family, friends, amazing healthcare teams, and the Pompe tribe we’ve been welcomed into …. This is how we’ve been able to get through the past four years.”

Thank you, Stephanie for allowing me to share your story and for advocating for the future on Pompe Disease.