I was crushed.

This is the post I've been hoping I would have the chance to write at some point.

This is the post where I can tell you that we finally know what's going on with our boy.

We have answers.

We have a diagnosis.

Before I tell you what it is though, I want to tell you how finding this out just sort of happened.

On Friday, March 20th, we made the decision to cancel our appointment at Nationwide so that we could instead see genetics at Toledo. Our appointment at Nationwide was with a neurosurgeon and we knew our end goal was getting to neuromuscular but we figured since we were able to get an appointment so quickly down there, we were going to take that opportunity in hopes that if neuromuscular was really where we needed to be, we'd have a better chance of getting in quickly if we were referred by another Nationwide doctor.

When we met with Dr. G (the pulmonologist) on Wednesday (3/18) he told us we really needed to see genetics. He said that's where our answers were. But because of everything going on with COVID-19, they weren't really seeing patients. He said he'd do his best to at least set up a telehealth appointment so we could video chat with a genetic counselor and figure out our next steps. He told us neurosurgery wasn't going to do much for us so that would probably end up being a waste of time. Once we explained our reasoning for going though, he agreed that it might not be a bad idea.

But then on Friday I got a call from the genetics office. They had an opening the following Wednesday (3/25), the same day as our Nationwide appointment. She said she had talked with the pulmonologist as well as one of the genetic doctors and they all agreed that we would be better off seeing genetics in Toledo than neurosurgery at Nationwide. So I agreed. I cancelled our appointment at Nationwide and set everything up to meet with the genetic doctors in Toledo.

Before hanging up the phone with the genetics office I mentioned the SMA concerns. I mentioned the neurologist brushing off my concerns. And I mentioned that we wanted him tested right away. She said she would do everything she could to get her hands on his newborn blood screening results. Apparently all newborns in the state of Ohio are now tested for SMA. She didn't know the exact date that began so she wanted to see if he had been tested or not.

I didn't hear back from her at all on Friday so I assumed he was either tested and was negative for SMA or he wasn't tested and we'd have to wait until our appointment to get that ball rolling.

But then Monday rolled around and everything changed.

March 23rd, 2020.

The worst day of my life.

The day I found out my son has a terminal illness.

I was at work. I had missed a call from the genetics office. I had a voicemail I hadn't checked. And then I had two missed calls from a Columbus number.

By the third call I knew I needed to answer it.

To be honest, most of my conversations over the next hour or so are a blur. But I remember hearing "Hi this is Nationwide Children's Hospital. We're trying to set up an appointment for Cooper... Neuromuscular... regarding SMA..."

I told her I didn't know what she was talking about. We were seeing genetics on Wednesday to begin testing for SMA. I could tell by her voice that something was wrong. She told me I needed to call genetics right away and then call her back as soon as I got done.

My mind was racing. We didn't have that test done yet. That wasn't part of our last blood draw. How would they know? They can't know that, right? At least not for sure?

I called genetics. No answer. I left a message then called Nationwide back to let them know I didn't get an answer. But they didn't answer either. I called Cody to tell him what was happening.

Then genetics called back. She said after we talked on Friday she called the Ohio Department of Health and asked them about Coop's newborn screening. He was born before they started doing that. But for some reason they still had his blood sample. So she asked them to test for SMA. They called her back Monday morning to confirm that he has SMA.

WE FINALLY FIGURED IT OUT.

It isn't what we wanted to hear. In fact it was on my list of one of the worst things he could have. I've heard terrible things about this disease and I was crushed.