This all-cheek cutie is Owen. He is tough as nails (just like his mama) and a medical mystery (just like Adelaide).

I was reading a special needs mom memoir (Raising a Rare Girl by Heather Lanier, highly recommended), as one does when trying to relax on vacation, and was struck by bitter jealousy when the mother received a diagnosis for her daughter’s rare syndrome. This is something we never received for Adelaide and continue to search for even after her passing. This was potentially the worst day of this mom’s life and I had to put the book down to quell the unabashed envy building inside of me. A rare diagnosis likely doesn’t come with a cure, and often not even a treatment, but it offers a navigational chart of what a future could look like. It comes with strong undertow warnings so you can line up the specialists up in advance. And it comes with a community of families charting the same rough waters.

I’ve written about this before in “A true diagnosis”, and “Haunted” so I thought I’d reach out to another undiagnosed, driving blind, warrior mama for her perspective. Please welcome Colleen Jendreas aka Owen’s mom to the Inchstones blog family...

“I’m sorry mama, it’s NOT cerebral palsy.”

It’s hard to imagine that those words in THAT order would even exist in reality, so allow me to introduce you to the bizarre and totally backwards world of the medically undiagnosed.

When my son, Owen, was just 5 months old he experienced what doctors call ‘explosive onset epilepsy’ and it’s just as bad as it sounds. Totally unprovoked seizures that strike over and over and do not respond to medication. Did you even know that could happen to a 5 month old baby? Yeah, neither did I.

And thus begins our perplexing medical adventure …

A relatively quick assessment in the ER led to an admission and introduction to our new best friends, the epilepsy team at Children’s Hospital Orange County. It’s worth noting that Owen is a lucky duck, in that we live less than 5 miles from a level 4 Epilepsy Monitoring Unit (EMU), but sadly even the best brain doctors don’t always have the answers we want.

We stayed 17 days in the EMU and Owen endured a battery of diagnostic tests, a CAT scan, an MRI of the brain, a PET scan, a spinal tap, and dozens of genetic panels. None of these tests could tell us what was wrong with our son and the seizures just kept persisting.

Finally an epileptologist came in and admitted that in something like 75% of cases of epilepsy, they will never find a cause, but because of the rare and severe nature of Owen’s epilepsy they thought they had a pretty good chance of finding a genetic syndrome or structural brain problem, but unfortunately that didn’t happen at all.

She then explained that I would hop into a boat that would float downstream, there are no paddles, and there could be a relaxed lagoon around the bend or class 4 rapids, but definitely no muscly armed river guide to help you outta this wild ride, so good luck sister! (OK, she didn’t REALLY say that, but she might as well have)

And then I drifted away …

Right into the jaws of the most thorough googling the world has ever seen! I spent weeks researching every syndrome that matches my son’s symptoms and did a great job bothering our epileptologist with my crackpot theories and when I was done bothering her, I took my business to another epileptologist. Surely, a second opinion will reveal the answers.

Yeah, not so much, epileptologist #2 repeated all the same tests and sang me the exact same song, the song of my people. The tale of ‘we don’t know and we probably never will’. So get comfortable in mystery land, the other 75% of purple ribbon wearers are right there with you.

But here’s the thing, when you don’t have a diagnosis, it’s like living in a constant cycle of heartbreak. You get your hopes up because, well, we don’t know what the future holds, there’s no colorful brochure or wiki page on how this medical condition is going to play out. You only have the present and it could get better or it could get much much worse and you have no choice but to get comfortable with the unknown and just keep swimming.

To date Owen has had his entire genome sequenced, 6 brain MRIs, 2 PET Scans, over 70 24-hour EEGs, and we even flew to San Francisco to get a special new-wave MEG scan and still ZERO answers. So when the results from his latest MRI came back and I had gotten my hopes up yet again, thinking it must be cerebral palsy, of course! After all it’s not unheard of for that diagnosis to come later in life, right??!! It would explain everything! I could finally be at ease with his future. Well … “I’m sorry mama, it’s NOT cerebral palsy.” and the cycle of heartbreak begins again.

Colleen Jendreas aka Owen’s Old Lady

@keep_goin_owen