What Happens When You Don't Get a Diagnosis?


I’ve struggled a bit on how to word this post. It’s been a commitment to myself lately to share as much as I can about our special needs journey. For better or for worse. Two weeks ago we had an appointment we were sure would give us answers. But as we left the office we were left wondering, “What happens when you don’t get a diagnosis?”

young girl's face with text 'what happens when you don't get a diagnosis?'

For those who haven’t followed our journey, let me give you a recap.

The best place to start might be here. A year ago this month, I shared what it was like living with a child who was 3 years old and not talking. According to our speech therapist’s assessment in October, Shiloh only had about 20 words we could count, and most of those were word estimations (words Shiloh created to sound like other words.)

Shiloh has missed every milestone. Every. Single. One.

So in September we returned from living overseas to see some specialists. We were introduced to the wonderful teams at Kennedy Kreiger Institute in Baltimore. Their entire focus is people with special needs. From big to small, they have every specialty we could think of and if they don’t, Johns Hopkins hospital (the next block over) does.

Here’s where we’ve been:

Neurologist

Developmental Pediatrician

NeuroPsychologist

Orthopedics

Speech Therapy

Physical Therapy

Behavior Specialist

Most of them more than one visit.

We’ve had all her physical features logged (by multiple doctors), her developmental IQ assessed, speech skills assessed and logged, X-rays of her hips, genetic tests for specific diseases, more blood tests and a sedated MRI.

We’ve talked about her birth history more than I care to remember. (Outside of holding her, it was not a super-fantastic day.)

We’ve dated every illness she’s ever had. (Thank goodness for Facebook posts!)

Analyzed her gait.

We’ve talked about her wide-set eyes, flat nose bridge, square face and prominent forehead way. too. much.

Marked her cafe-au-lait spots on a chart.

So two weeks ago when we went to see the geneticists and genetic counselor, we were so sure they would have answers for “Why?”

They poured over the physical features again, birth history again (apparently somewhere along the way I had a c-section, so we had to correct that…)

We spent 15 minutes staring at her MRI, flipping back and forth between screens. Looking at the small cyst  located behind her eye that, according to all the professionals, is not causing any abnormalities.

Talked more about her terrible teeth and why we had 12 more pulled last month. About her three years of screaming nights and constantly being held.

And stared into the faces of the geneticists when the results were all too scattered to produce a diagnosis.

“Let’s do some more tests.”

We listened as they explained the next step would involve more blood tests. This time they want to perform a complete Exome Profile, recheck her lactate levels and other things I was too overwhelmed to remember. They want to do the same for my husband and me to compare.

They want us to wait for six months for the results.

The results that only have a 40 percent chance of yielding an answer.

And the hoped-for answer will only be able to tell us what other kids with the same abnormalities in their genes are experiencing.

Management options.

Projected progress.

No cure.

And we were left wondering.

What happens when you don’t get a diagnosis?

The simple answer is…

Live.

Getting an official diagnosis beyond her generic encephalopathy diagnosis isn’t going to change our life.

Shiloh will still be Shiloh. And we’ll still be the same family.

The same family that’s working hard every day to make Shiloh’s life the best it possibly can be.

Celebrating her new words!

Doing silly dances as she finally starts to potty train just before her 4th birthday.

Getting out the Clorox wipes when she misses the potty and the diaper.

Taking a million pictures as she creates her first painting masterpiece.

Following her around the grocery store trying to keep her occupied so the other parent can do the shopping.

Picking up her little shopping cart as she gets to overwhelmed and tips it over.

young girl looking through play telescope

The good, the bad, the frustrating, the amazing.

It will all still be the same even if we never get a diagnosis.

I hope that no matter where you are in the diagnosis process, you will look for the great ways to live. Forget about the name, the cause, the problem, and just live life.

This post originally appeared on Life Over C’s.

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