In August of 2010, we got the call from our pediatrician:
“Andrew tested positive for cystic fibrosis,” she told me gently, and I imagined her kind eyes filling with concern as she heard silence on the other end.
That call began a roller coaster of emotions for our family and set off a chain of events that turned our world upside down.
I quit my full time job as a kindergarten teacher and soon our days were spent meeting with local specialists who began ordering a seemingly never-ending list of tests and prescribing breathing treatments and enzymes and weight gain shakes.
Suddenly autism and epilepsy were no longer on the forefront of our minds.
Suddenly, our 37-pound 8-year-old son seemed frailer than he’d ever been before.
The circumstances leading up to Andrew’s cystic fibrosis diagnosis were much like Andrew himself; mysterious, complicated, rare. After falling off the growth charts and failing to thrive, doctors began pursuing anything and everything that could possibly explain why our son was wasting away before our very eyes. When they announced plans to test for CF, my husband and I shrugged our shoulders and agreed, knowing nothing would likely come of it.
You can imagine my surprise when I picked up the phone and received the startling news from our pediatrician. She immediately assured me that we would retest, and retest we did; once, twice, three, four times. All positive sweat tests. The geneticist was next and when the results came back that they were able to find just one mutated gene, the specialists agreed that the diagnosis still fit and we forged on, one breathing treatment and clinic visit at a time.
But each night, after the lights were out and our boys were fast asleep, my husband and I would reconvene in our bedroom and try to make the pieces fit.
And they never did.
We said the words over and over again, to family and strangers and anyone that would ask: “Andrew has autism, epilepsy and cystic fibrosis,” but it always came out with a soft question mark at the end, as if each time we uttered it, we were asking the universe if it were really true.
If I go through my special needs columns and blog posts that I’ve written since August of 2010, it’s rare that I find anything that truly explores Andrew’s cystic fibrosis and I know it’s because, in that space between my heart and my gut where my intuition lies, I’ve always known Andrew didn’t have CF.
Why we didn’t speak up sooner or question the doctors more loudly I can’t say. We clung to that diagnosis like it was the last life raft in an unforgiving sea, and we rode it hoping it would take us to a destination where Andrew’s symptoms would make more sense. But we never really arrived anywhere; we just floated around aimlessly, feeling like we didn’t truly belong, wondering if we’d ever actually see solid ground again.
I think back to those first few months and I know we were so desperate; desperate for answers that would explain so much of what we didn’t know about our firstborn.
So we made ourselves as comfortable as we could at our local CF clinic, where we’ve spent many long hours for nearly three years.
A few weeks ago, in the same clinic and without fanfare, Andrew’s CF diagnosis was officially removed.
My husband and I looked at one another and didn’t say anything; neither one of us surprised.
We just let the doctors’ words linger in the air for a little while.
I recall feeling as if we were back to square one, not really knowing where to go from here, and any joy I should have felt at what was surely great news was tempered by the only thought that I could muster at the time:
What if it’s something even worse.
Having a medically fragile and complicated child leaves you wondering if you’ll ever truly get the answers to the millions of questions that invade your mind and infiltrate your thoughts each day. There are so many physical and developmental aspects of Andrew that are still unaccounted for; delays, attributes, complications that aren’t encompassed by his autism or epilepsy diagnoses. Certainly the CF diagnosis didn’t explain everything either, but it was something, even if that something was scary as hell.
Here’s where I say, don’t get me wrong. We’re thrilled that Andrew does not in fact, have cystic fibrosis. This IS good news and we ARE grateful and counting our blessings, knowing there are so many CF patients and their families that need to be lifted up in prayer as they navigate through this difficult and often devastating genetic disorder.
I’m just in this strange space, a series of dead ends before me. Meanwhile, I have a son who’s unknowingly counting on his parents’ perseverance to find out all we can about him.
It’s safe to say his life kinda depends on it.
So what’s next?
As parents, we forge on, determined to get the answers we seek, the answers our son deserves.
Our goal is simple: to continue improving the quality of life for our special needs child. Armed with the right information about his health and potential prognosis for the future allows us to utilize all of the appropriate resources available to us now, as well as take advantage of new scientific research and technology as it becomes available.
All that’s missing is the right diagnosis.
An expensive but necessary series of genetic sequencing awaits and hopefully something, anything, will turn up.
While we wait, we spend our days in gratitude that our son has come so far and with the right tools and supports in place, we know he can accomplish many great things.
Giving Andrew access to those tools and supports is the least we can do for a little boy who’s taught us so much about love and patience and continues to humble our determined hearts.
7 Replies to “Undiagnosed: Still Searching for Answers”
My husband and I have been married only a few short years. We found out pretty quickly we couldn’t conceive, my husband didn’t want to foster, so we looked into and bought into private adoption. Lucky for me a good friend worked with a foster agency. She talked about the rewards, etc. Hubby came around. We went thru the extensive training, we had specifically selected no special needs. Low and behold one day, we got the call for our first foster kids. Siblings. Boy a little energetic. Turns out he is special needs for many reason’s and levels. most due to his mom’s activity while prego. I am sorry I am giving you way to much detail, but now 2 years later, we still do not know all his diagnosis, or the history of his birth mom’s abuses. But they he is now my son, and I will never stop advocating, taking him to behavioural therapy, Ot, speech therapy, Doctor’s, extra school, church, parks, zoos..
Jo.. what a strange space to be in. and WRITE from. Writing from a space that has nothing in it…only a bizarre, invisible tension begging for a release of some kind. Lordy you help so many people with this thing, I’m sure of it. Keep up the fight (s). You are special.
Love you Jo.
Have you done the Fragile X test? My son has Fragile X syndrome, and it is pretty common for kids to manifest with Autism and Epilepsy. My brother and one of my nephews have CF. I am really happy to hear that your little guy got undiagnosed. I really hope that they can figure out his medical issues. I understand what it is like to not know how to help your child, and to just want some answers. It sounds like you are doing everything you can to solve the puzzle. I will be praying for Andrew!
Jo – I can completely relate to this entire entry. And I lived in that “space” for several years. I never believed that Gavin had CP – ever. But it was a way to describe his collection of symptoms… it got him the services and equipment he needed… and, to me, it was just a temporary title until we figured out what it “really” was. I know what it’s like to need to know… to hunt for answers… to research and google until the sun comes up. I hope that the genetic testing he’s getting leads to something!! Gavin’s was covered by insurance… I hope Andrew’s is, too. xoxo
Sorry for the confusion that faces you… Have you heard of TGEN? I wonder if they could help with testing?
I only know about it because I saw the organization on this little girl’s facebook page:
But i thought immediately of her story as I read your blog and felt compelled to send the link in case it is helpful….
We just came across something new after our third child was born with a cleft palate…it’s called a duplication of chromosome 22. Our oldest child, a 9 yr old girl, is on the “spectrum” but never really fit anywhere either, so we’ve just said she is who she is and we just help her with the problems she has. But this chromosome duplication can cause not only cleft palate but also autistic behaviors, global delays, heart problems, etc. I’m now going to have my daughter tested soon. Just thought I’d share…:) I was touched by this post as well, because my husband’s youngest sister died from CF in 1998 at age 17. We had our worries with our oldest as well, but then found out I’m not a carrier.