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Stuck in the Elevator

Last Saturday was Undiagnosed Day. A day I had no idea existed until very recently

When Nora was first diagnosed with Infantile Spasms, I thought that not being able to find an underlying cause was a good thing. I remember reading that kids with idiopathic IS that respond quickly to treatment tend to have the best developmental outcomes. For a while I actually prayed we wouldn’t find an answer. At the time I felt like a diagnosis would be a label, and I didn’t want any sort of label on her that would limit her potential.

Three and a half years later, I no longer feel that way. Now I’ve come to realize that being undiagnosed is incredibly lonely. Having an undiagnosed child means:

  • Lack of a support community. There’s nobody fighting alongside you.

  • You’re fighting a ghost. How do you lean into treatment options or hopes of a gene therapy when you don’t even know what you’re fighting?

  • For many, like me, it includes living with the secondary loss associated with the inability to expand their family (or feel safe doing so). I could (and likely will) dedicate an entire blog post to this topic

My husband and I often joke that one very frustrating side effect of Nora’s lack of diagnosis is that Nora has no “elevator pitch”. No easy 2-3 sentence summary that helps people understand her and the magnitude of what she’s facing.

While I am in no way diminishing these big battles, if somebody says, “My child was diagnosed with cancer” or “my baby needs a heart transplant” people immediately *get it*. They can wrap their heads around it, they can contextualize it, and they can figure out how to respond with the appropriate amount of empathy.

When it comes to Nora, I haven’t cracked the code on how to bring up her diagnosis (or lack of?) to authentically represent her in casual conversation. I either trauma-dump her entire medical history onto somebody, or smile and nod and never mention it at all. There seems to be no happy medium. Most conversations with people outside of the rare disease world go something like this:

Oh, you said she has a rare genetic disorder. What’s the disorder if you don’t mind me asking?

“Well, we don’t actually know. We can’t find the gene responsible despite doing all of the genetic testing available. But, she has epilepsy and developmental delays consistent with a genetic disorder”

Oh epilepsy, my friend/cousin/dog has epilepsy. So she has seizures? Any chance she will outgrow them?

Well… she had a serious form of epilepsy as a baby, and while she will always have epilepsy, she’s been very fortunate that her seizures have been well controlled for the past couple of years on the keto diet.

Oh, that’s great! You said she has developmental delays, but she’ll catch up, right?

“No, it’s unlikely that she will ever catch up. We’re hopeful she will walk, but we’re not sure if she will ever talk, but we’re proud of whatever progress she does make”

How can you know that if she doesn’t have a diagnosis? She may surprise you yet!

*internal sigh knowing that these are well intentioned comments* “Yea, Maybe”

At this point the person is so far into an awkward conversation full of my non answers that they’re sorry they asked in the first place and I’m often left wishing I hadn’t mentioned it at all.

I’ve come to accept that a part of navigating this life is knowing when to just nod and smile. No, Jennifer, The checkout lady at the grocery store doesn’t need to hear your whole backstory when she hears you have kids two years apart and says “it must be great that they can run around and play with one another”. Just let this one go.

But sometimes you crave genuine connection. Imagine just having to smile and nod and pretend a huge part of your reality doesn’t exist because you know it doesn’t fit into nice casual conversation or you know it'll make people uncomfortable. That’s a lonely place to be.

Most people avoid difficult topics that can’t be spun in a positive light because they are afraid of saying the wrong thing. I totally understand that. I WAS that person before having Nora. If you find yourself feeling that way my advice would be: ask genuine follow up questions, listen, and if you’re at a loss for what to say, try “Wow, I can imagine that has been a lot to go through”. Because i can assure you, it was 🙂

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