My maiden name is Sheehan. I can’t even begin to tell you how much I miss it being attached to my hideous first name! Sure, I could’ve kept my last name when I married Dave, but I’m far too traditional for that. Or I could’ve hyphenated it. But how does “Sheehan-McGann” sound to you? In case you’re wondering, the two RHYME. Ugh, how cheesy is that?! And so I forsook the last name that I’d had for 20 years (Yes, I married young. No, I wasn’t pregnant.) and became a “McGann”. Yuck. Such a terrible last name. You can kinda imagine my husband’s great-great-great grandparents arriving at Ellis Island and stating that their last name was “McCann”, but the clerk was drunk so he accidentally wrote down “McGann” instead of “McCann”. Thus, the “McGann’s” had arrived in America!
My husband tells me that his family originates from Ireland’s County Kerry (which is why his sister was named Kerry, but that’s besides the point). I told him that BOTH sides of my family originated from Ireland’s County Cork. So yeah, TAKE THAT! (Oh wait, maybe THAT’S why my dad and mom look like brother and sister . . .)
My parents, on their wedding day. And yes, my dad STILL has that much hair.
For several years, I battled chronic fatigue. I never felt comfortable calling it “Chronic Fatigue Syndrome” because I felt that was an insult to people who truly suffer from CFS. You may think that CFS is just a made-up syndrome for people who enjoy being lazy; that the cure is ‘a hefty dose of caffeine and an even heftier dose of SUCKING IT UP AND GETTING A LIFE!’, but you’d be so very, very wrong. CFS is real. And people who truly suffer from CFS may be wheel-chair bound. They may be incapable of getting out of bed. Or bathing on their own. Period. CFS is a cruel disease, made even more cruel by the fact that it’s so misunderstood and rarely taken seriously by the medical community.
But in my quest to find a singular reason for my (lowercase) chronic fatigue AND my recurrent miscarriages, I stumbled across a diagnosis that made me laugh. “Sheehan Syndrome”! Yep, my family already had a syndrome named after them! I was oddly proud, and even more oddly hopeful that this was what I had. After all, how ironic would it be that a “Sheehan” had “Sheehan Syndrome”?! I wanted to read about “Sheehan Syndrome” and experience an epiphany–THIS IS WHAT I HAVE!!! And then I would follow it up with “So take THAT Alanis Morrissette! You want to know what’s truly ironic?”
Alas, t’was not to be. “Sheehan Syndrome” is a condition normally found in women who experience a massive amount of blood loss while giving birth. Yeah, not so glamorous. And, bottom line, it didn’t describe me. I hadn’t experienced a massive amount of blood loss during my “natural” delivery (and by “natural”, I mean the -v- word. A highly-medicated -v-word delivery.) And so I, again, forsook the Sheehan name (Trust me, I’m laughing at this point. As if anybody would want to be diagnosed with Sheehan Syndrome!) and began searching for a disorder that would better explain the conditions I was experiencing.
I’ve already written a series of blog posts that explain what my final diagnosis is, and how to treat it. Bottom line–I don’t have “Sheehan Syndrome”. But . . . how about “McGann Syndrome”?
Since Jack is fortunate enough to see the INCREDIBLE, AMAZING, AMAZCREDIBLE (and whatever other words you feel like creating to denote “intense awesomeness”) Dr. Skotko, we have now pinpointed the cause of Jack’s autism. Okay, let me repeat that: WE HAVE NOW PINPOINTED THE CAUSE OF JACK’S AUTISM. Do you truly understand the implications of that? It means we could potentially treat Jack’s autism . . . the way you treat an ear infection or a sinus infection! Does this mean that Jack is going to be autism-free and suddenly begin making progress in leaps-and-bounds? No. We’re far more realistic than that. But what it does means is that perhaps, just perhaps, we may be able to increase Jack’s cognition and development simply through a nutritional supplement! And we never would’ve learned this information if it wasn’t for Dr. Skotko and the autism-related blood tests that he had ordered on Jack’s behalf.
Dr. Skotko isn’t just an expert in Down syndrome; he’s a GENETICIST. First and foremost. Dr. Skotko has very personal reasons for helping patients with Down syndrome–his own sister has Down syndrome. And so, I imagine, he receives a great deal of satisfaction in helping his patients with Down syndrome make progress that would’ve been impossible without him or without his referrals to other specialty clinics.
But in our follow-up appointment at MassGeneral a few days ago, we didn’t see “Dr. Skotko–the guy who helps patients with Down syndrome”; we saw “DR. SKOTKO–THE GENETICIST”. Bottom line, that’s what he truly is and Genetics is what he’s most passionate about.
Jack’s most recent test results show that he has a genetic anomaly THAT HAS NEVER BEEN SEEN BEFORE. Of course. Would you expect anything less from a McGann?!
I’ve written a series of blog posts called “The Awesome-ness of Dr. Brian Skotko”. Those posts explain Jack’s test results in great detail.
These past few weeks have been EXTREMELY difficult for me. Just the handful of appointments that Jack has had . . . too much. Too much for me to handle, emotionally.
And so I’ve been watching A LOT of 30 Rock lately. I pretend I’m Tina Fey. And at times I actually smile at the thought that, OF COURSE, my child would manage to have a rare chromosomal microduplication never documented before. That, OF COURSE, my child would need to have the “XomeDx” blood test, which is when 20,000 out of your 25,000 genes are examined by scientists.
Yes, thanks to Dr. Skotko, we finally understand the cause of Jack’s autism. But at this very moment, that doesn’t seem comforting. When Dr. Skotko first showed Dave and me where Jack’s autism had “developed” (at a point where a lack of nutrients needed to complete the chain reaction of chemicals necessary for Jack’s brain development abruptly STOPPED), I was in awe. I had a smile on my face bigger than the Grand Canyon. AT LAST!!! We had the answers to which so few parents would (unfortunately) EVER receive answers! We had every reason to celebrate!!!
But Dave and I know better than to celebrate. Because our lives are so unbelievably far from easy. It’s not a matter of things being “good or bad”; it’s a matter of things being “bad or worse”. Truly.
And so we remained “guardedly optimistic” about Jack’s test results. We both had our blood drawn at that visit to see which one of us had passed along the Chromosome 4 microduplication to Jack. My guess? ME!!! After all, it’s ALWAYS the mother’s fault. ALWAYS. So we shall see . . .
But this whole ‘Chromosome 4 microduplication that we’ve never seen before’? Yeah, I’m OWNING this! Sure Dr. Skotko, you may have ordered the necessary tests that proved my son has this never-before-seen condition, but guess what? HE’S THE ONE WHO HAS IT. So let’s compromise and just call this microduplication “McGANN SYNDROME”. Because, honestly, HOW AWESOME WOULD THAT BE?!
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