Sep 21

Sep 21 A true diagnosis

Oof, my anxiety is KICKIN' this week! I can’t identify the exact cause this time, but ‘D: all of the above’ seems to be an appropriate answer. Most often, my anxiety ramps up when I start to feel that I’m losing a handle on certain situations. Here’s a statement that should surprise no one: I’m a control freak. Now, I couldn’t function if I needed to be in control of everything - whether Adelaide has a seizure or needs extra oxygen from one day to the next is entirely out of my control. So, if I can’t control her days, I can at least have plans in place so we’re prepared when the wrenches start flying. Honestly, its how I’ve been able to get through the last two years without having a true diagnosis for Adelaide.

On our way to have Miss A evaluated at Mayo Clinic. August, 2017

Whats that you say? You thought Adelaide was diagnosed with epilepsy, hypotonia, mast cell activation syndrome and dysautonomia? Yeah, she is. I like to call those “insurance diagnosis”, but really they are symptoms. What we have been searching for, since her very first neurology appointment, is her underlying diagnosis, her true diagnosis. How do you treat (ahem, control), something when you don’t even know the root cause?! This is the million dollar question and one that roughly 75% of people with epilepsy would like to have answered. You read that right, 75% of epilepsy patients do not know what is causing their seizures. Thats nuts, right? No wonder a third of epilepsy patients are resistant to available treatments.

Sleeping after a long day of testing at Duke Univeristy as part of the NIH’s Undiagnosed Diseases Program. January, 2018

Our journey for answers has led to hundreds of scans, images, blood and fluid draws, evaluations and biopsies being conducted by dozens of specialists at ten different hospitals. I spent the better part of 2017 getting her enrolled in the Undiagnosed Diseases Network, an NIH research program, which evaluated her at the beginning of this year and is still working to find an answer.

To keep from boring you entirely, I’ll give a SUPER DUPER brief breakdown of epilepsy causes. Bear with me: epilepsy is either genetic or acquired. Genetic epilepsies include an inherited condition or a gene that just didn’t copy correctly at conception. Acquired epilepsies includes a brain or birth injury, infectious illness or a tumor and can often be diagnosed from an MRI or other scans and testing. None of Adelaide’s images or tests show signs of an acquired cause so, by process of elimination, down the genetic rabbit hole we go. Because scientists are really just beginning to understand the human genome this task is daunting but, thankfully, new epilepsy genes are constantly being identified. Like many other kiddos, Adelaide’s genetic testing journey started with “whole exome sequencing” (WES) that evaluates the most actionable 2% of your DNA. Then we were on to “whole genome sequencing” (WGS) that tests the full DNA. These tests take months and months to run and the results are not always clear. To further complicate the diagnostic process, insurance may not pay for WES, meanwhile, WGS is currently only available as part of research studies. Adelaide’s results found nothing of note in her WES and while we may have some new clues from her WGS, additional tests are needed. As I write today, we are still waiting for science to catch up to our little girl.

There is so much to be gained from a true diagnosis, not least of which is to simply have a name for our adversary. A true diagnosis could also lead to a better treatment, an additional sense of community, not to mention awareness around the potential implications of a hereditary condition (I smell a future post on that last one). Most importantly, for me anyway, is that without a diagnosis we have no prognosis. When people first hear about Adelaide, the most common question I am asked is “what does her future look like?”. My simplest answer is “we don’t know” and lemme tell ya, it is really hard to make a plan for the unknown.

Aaaaaand this is where my anxiety comes into play. I know I can’t control Adelaide’s future and I have accepted that… most days anyway. However, I just can’t seem to give up on finding her true diagnosis. Our reality is that Adelaide has been on a steady decline since her first seizure: one step forward, two steps back. I’m not sure how else to say this delicately, but how far do we push her medical care? With a better understanding of her future we could tailor the best plan of care for her and prepare for whatever battles are coming our way. Putting her through an invasive surgery or challenging treatment when we’re unsure of the efficacy seems cruel but, then again, what if it helped? Can’t a mama get a little info on how to best make her baby happy and comfortable? Gosh darn it, a diagnosis sure would make that easier! In the meantime, we develop plans with the best information we have, shower Adelaide with love… and I continue to take my Zoloft.