The Diagnosis, Expectations, and Disney World

So you’re probably wondering what these three things could possibly have in common. I’m beginning to think it marks the end of my confidence as a mother. It sounds so dramatic, but in the moment it is how I’ve felt.

A couple of weeks ago, we got the call. It was the dreaded call from the doctor’s office that we were expecting. Results of the DNA testing for the girls. I fully expected to hear they tested positive. After all we were talking about a rare disease called Hereditary Coproporphyria (HCP). It has hereditary right in the name!

As I played back the voice mail I heard, “We got the test results. Give me a call back as we need to find and schedule a follow up with a geneticist.” That meant positive. Exactly what I expected. So why did I get a sudden knot in my stomach?

Expecting something and actually having it happen are two different things. I know this. I’ve had several friends tell me the same thing. It makes sense. Yet, there was this feeling of disappointment. Since Cameron’s autopsy results came back, we have been living as if we all had it. Now that we know, why should it change anything?

It’s amazing how a rare diagnosis can consume your life. In a matter of months every member of my family (except me) has been diagnosed. Doesn’t seem so rare anymore.


We haven’t made any headway in finding a geneticist yet. Even our pediatrician said the likelihood of finding one local with expertise in our diagnosis could be difficult. No one knows what it is! When I mention porphyria to medical professionals, almost every single one has asked what that is. Talk about a confidence booster. I don’t think I will ever get used to knowing more about a condition than the doctors and nurses that treat us. Immense pressure to make sure no one screws up.

What if I screw up?

The other night we attempted a trip back to Magic Kingdom. The first trip back since Cameron died. I expected to cry my way through Mickey’s Not So Scary. Instead, I was following Melia as she puked her way through Fantasy Land. We hadn’t even made it an hour inside the park and we were on our way back out. I felt so bad that she got so sick. Not what we expected. It was so sudden.

I’m not going to lie. Immediately, I was freaking out inside. Asking her all these questions. Trying to appear calm like the questions weren’t that important. We haven’t told her yet that her test was positive. I didn’t want to freak her out.

In my gut I knew this was just a stomach bug. It wasn’t the same thing Cameron had. Yet, so many symptoms are the same! It was the first time we’ve had sickness like this back in the house. I was immediately transported back to that night. Feeling the same feelings of inadequacy. My confidence was so shaken! What if I missed symptoms that were important? After all, the pathologist told me Cameron had signs of past episodes. Did I miss something then? Did we need to go to the ER? The only way anyone can tell if it is just normal sick or porphyria sick is with a urine test. My mind raced while I told myself to stop over reacting!

The next morning I texted our pediatrician. She was out of town but jumped through hoops to get us on the calendar. so I could have peace of mind. Not that we were really being evaluated for porphyria, I felt better having someone else’s eyes on the situation. I just don’t trust myself anymore. She was so amazing she even texted me again today to see that we were all doing OK.

I knew the next time one of the girls was sick it would be tough. I expected to question myself. However, I didn’t expect it would be so much. I told my husband that I can’t be in charge of sick kids anymore. Having one die on your watch, in your arms, is more than any Mom can handle. I just don’t trust myself! I don’t want that weight on my shoulders.

Life is teaching me a lot about expectation and reality. How they rarely intersect.

Maybe over time my confidence will be restored. I won’t expect it. Let’s see if it happens.

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One Comment on “The Diagnosis, Expectations, and Disney World”

  1. The line where you told your husband that you feel you can’t be in charge of sick kids anymore after having one die in your arms … #truthbomb Thanks for your vulnerability in your writing. I know it is helping so many other who can relate to what you’ve been through.

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