Today is different. Today we have an answer, well not exactly. But, we do know what we don’t have and that’s Pompe Disease. After 5 days of fear, depression, anger and anxiety we found out that Finn has normal enzyme levels and is not showing any evidence of Pompe Disease.
When the Geneticist walked in the room my heart stopped. Finn was in my arms and I squeezed him a little tighter. This was the moment we were going to hear what our son’s future was going to look like. A debilitating disease that would inevitably end in his life early or a chance at a normal childhood. Why was he talking so slowly? Then he said it. “We called the Mayo Clinic and got the preliminary results to your son’s Pompe test. There is no enzyme discrepancies noted.” My heart sank into my stomach, is he saying what I think he is saying? Yes. Finn does NOT have Pompe Disease. He is certain. The results are not back from Duke yet but it doesn’t matter. My eyes welled up with tears. I think I let out a wail of relief. I was just so happy that it physically hurt.
In hindsight, I was so excited and relieved that I didn’t ask as many questions as I want to now. We didn’t probe too much about next steps because, well, we still don’t know what is causing his heart to be so large - but for right now that doesn’t matter. What matters is that he is not going to be receiving Enzyme Replacement Therapy every week for the rest of his short life. That he has a chance to run and climb and play with his big brother. What matters is that we can all go to bed knowing our family will stay in tact and that our little boy won’t know the suffering that goes along with such a horrible disease.
Later at home Asher dropped a glass on the ground and it shattered. Jeff and I looked at each other and smiled. These are the sort of problems that we should be having. We should be complaining about an independent toddler making messes and how tired we are from lack of sleep with a newborn. It really puts things into perspective when you are looking down the barrel of a gun. Tonight I snuggled Asher extra hard. Tonight I smiled and laughed for the first time in nearly a week. Tonight I WILL sleep.
Tomorrow we start looking for the answer on how to fix Finn’s heart.