I’m not a famous blogger like Lexi “Sweatpants” Magnusson or Jo Ashline or Jessi Cash (and believe me, I wish I was because those are my favorite bloggers). I’m just some no-name blogger from Massachusetts who has a son with the rare combination of Down syndrome and autism. But please don’t underestimate my importance. Why? Because my son sees some of THE MOST world-renowned hospitals on the planet. My husband and I are fortunate enough to live in the Boston area, so we have access to some of the best medical care in the country. We are very fortunate to live where we live.
My son, Jack, is 7 years-old. He’s essentially non-verbal. He’s still in diapers. He’s an absolutely GORGEOUS child with sparkling blue, almond-shaped eyes and a perky little nose, both thanks to Down syndrome. But his behavior cannot simply be explained away by “Down syndrome”; Jack also has autism. I write these things as facts, but please know that my heart is still broken because Jack’s secondary diagnosis of autism is still something that my heart is fighting to accept.
I requested an amniocentesis while I was about 5 months pregnant with Jack that proved definitively that he would be born with Down syndrome. But there’s no amniocentesis to diagnose “autism”. Because “autism” isn’t a chromosomal defect, which is what an amniocentesis tests for. Autism is a diagnosis that absolutely any expecting (or unsuspecting) parent can receive. You can be best friends with Gwyneth Paltrow, eat a macrobiotic diet, do yoga 10 times a week, and still . . . autism can hit you like a freight train. Autism doesn’t care about social status. Autism doesn’t care if you’re rich or poor. Autism doesn’t care if you’re a single-parent working 3 jobs, struggling to make ends meet, or if you’re the sultan of Dubai (Are there sultans in Dubai? I seriously don’t know. PS–what is a “sultan”?)
But once you’ve come to grips with a diagnosis as significant as Down syndrome, you can’t imagine anything else going wrong. After all, “Down syndrome” doesn’t develop when you eat too many Chicken McNuggets (awww man, now I want Chicken McNuggets!); it’s a syndrome that develops in the womb, while your fetus is still an embryo. And it effects every single aspect of your child’s health and development. So if you received a prenatal diagnosis of Down syndrome, why would autism even be on your radar?! In our case, it wasn’t. Sure, I thought I “knew” autism–it’s a bunch of kids who like to obsessively line up matchbox cars and stack legos and rock back and forth in the corner of the room, right? Well Jack doesn’t do any of those things, so we’re good! Right? RIGHT?! Wow, so naive.
I don’t know why we didn’t see Jack’s autism. Maybe because Jack didn’t ‘obsessively line up matchbox cars and stack legos and rock back and forth in the corner of the room’. So, in my uneducated view of people with autism, how could JACK have autism?
But I know one of my best friends saw it. And she was wise enough to SAY NOTHING. SHE KEPT HER MOUTH SHUT AND HER THOUGHTS TO HERSELF. Because I wasn’t emotionally ready to hear it from a “non-expert”. Perhaps if she had vocalized her concerns to me . . . maybe it could’ve caused irreparable damage to our friendship. She knows me well enough to know that I’m not about to stick my head in the sand if a doctor tells me “This is what your son has”. Perhaps she was just waiting until the time when a doctor would break the news to us–Jack has autism. I’m fighting back tears as I write this, but she is TRULY an amazing friend. (And the amazing person responsible for my blonde hair color. Plus, she’s a dead-ringer for Mariah Carey. So yeah, she’s got a few things going for her!)
When Jack was born, I wanted to make sure he was being seen by THE BEST Down Syndrome Specialist in our area. And what better place than at Children’s Hospital Boston–the country’s MOST RENOWNED Children’s Hospital?!
Back in 2007, at the Down Syndrome Clinic at Children’s Hospital, 15 month-old Jack and I met one of the pioneers of Down syndrome research: Dr. Allen Crocker. This guy was a legend. But here I was, a nervous first-time mom who desperately needed guidance (although I acted like I totally had it together) and, while Dr. Crocker was as kind and sincere and caring and adorable as a box full of kittens, I left that appointment feeling . . . just as confused as when I had first arrived. I still didn’t know: “WHAT ON EARTH AM I SUPPOSED TO DO WITH THIS CHILD???!!!”
Dr. Crocker’s clinical notes from December 2007 included that Jack was a “nice little boy”, –something illegible–, and “affectionate”
But hey, this was Children’s Hospital Boston. The best children’s hospital in the country! This MUST be as good as it gets. And so I booked a follow-up appointment for Jack to be seen by the same clinic again when he was 5 years-old. Sadly, Dr. Crocker had since passed away, and in his place was this doctor, Brian Skotko, who I assumed was little more than a ‘resident physician’ who was temporarily filling in until they hired a permanent replacement for Dr. Crocker. I mean, did this guy really have “MD” after his name on his business cards, or was he little more than a medical student posing as a “Down syndrome expert”? But you know what? I didn’t give a crap. I didn’t care if Jack was being evaluated by some homeless guy living under a bridge (yeah, I tend to use that analogy a lot). Because, based on my last appointment with the Down Syndrome Clinic, I wasn’t expecting to learn much. I was anticipating the same thing I had experienced back in 2007–comments about how adorable Jack’s little nose was (literally), and a pat on my head (again, literally), assuring me that everything was going to be okay. Honestly, the only reason I brought Jack back to that clinic was because I so desperately wanted to be one of those incredible moms whose kid with special needs was seeing top-notch doctors and clinics. It was a pride thing.
Before you can be seen by the Down Syndrome Clinic at Children’s Hospital Boston, you need to complete a 15 page-intake packet. Every.single.year. No, I’m not kidding. (This is pretty much standard procedure for any specialty clinic.) So back in 2011, as I was completing this insanely long intake packet, I was getting increasingly more resentful, KNOWING that I would have the same experience as I did with every other specialist Jack had ever seen: You fill out this overwhelming packet that requires all of this detailed information that you know is completely irrelevant to the consultation (Apgar Scores at 1 and 5 minutes? Head circumference at birth? Are you serious?!) aaaaaand then the doctor never bothers to so much as glance at the packet. Instead, they ask you EVERY . . . SINGLE . . . LAST . . . QUESTION THAT YOU’VE ALREADY ANSWERED IN THE PACKET THAT YOU’VE COMPLETED AND MAILED TO THEM SEVERAL WEEKS IN ADVANCE!!! And so I’m left wondering ‘Why did I even bother to fill out YOUR stupid packet in the first place?!’ CONGRATULATIONS, Dr. Doesntgiveacrap, you’ve just wasted HOURS of my time! Oh, and PS–Are you going to reimburse me for the countless hours I’ve spent completing the packet that YOUR OFFICE sent me, only to have you completely ignore every bit of information that I’ve already provided you? No? Okay. So I’ll just sit there during my son’s consultation with a fake smile pasted on my face, feeling all “stabby” inside. And when you ask me what Jack’s Apgar Scores were, I will politely tell you that “Jack’s Apgar Scores were 8 and 9.” What I’d really like to tell you is “Hey idiot who happens to have the letters MD after your name, the answer to your question is on Page 2 of the packet that is sitting right there on your desk!!!”
(Now, before I continue my blog post, I want to give the Down Syndrome Clinic at Children’s Hospital Boston A LOT of credit, AND THEN SOME. Because they truly review each and every page of every child’s intake packet before their appointment. When I’m referring to speciality clinics that drop the ball, the Down Syndrome Clinic at Children’s Hospital Boston IS NOT ONE OF THEM.)
So in June 2011, four year-old Jack and I entered the consultation room to meet Dr. Brian Skotko. The man who I assumed was going to be nothing more than a vet’s assistant/horse whisperer/dog psychic . . .
I was IMMEDIATELY BLOWN AWAY. This guy . . . I wanted to pinch myself. Not only had he read through every.single.page of Jack’s intake packet, but he had also developed a list of questions he wanted to ask me! And he had written up a list of recommendations for Jack, prior to Jack’s appointment!!! WHO WAS THIS MAN?! AND WHAT PLANET DID HE COME FROM???!!!
His name is Dr. Brian Skotko and, as far as I know, he was born on planet Earth. But that’s still up for debate . . .
You know that scene in The Sound of Music where Julie Andrews is singing: “The hills are alive . . . with the sound of music . . . ” and she’s spinning around with the mountains in the background and it’s just a breathtaking cinematic moment? Okay, so I would like to do that, but instead of singing a Rodgers & Hammerstein song, I just want to yell from the mountaintops about how awesome Dr. Skotko is. No twirling necessary.
To date, mankind has not been able to create an adjective to sufficiently describe the awesomeness of Dr. Brian Skotko. This man has changed our lives.
But back in 2011, quite honestly I left that visit with Dr. Skotko feeling overwhelmed beyond belief. He had recommended at least half-a-dozen speciality clinics that he wanted Jack to see. He had ordered blood work, a neck x-ray, etc. etc. etc. Dr. Skotko made it very clear that I could take my time booking the appointments he had recommended for Jack; that I didn’t need to overwhelm myself by booking all of them in one day. And normally, ‘Type A Tammy’ would’ve accepted Dr. Skotko’s reasonable, caring, considerate advice as “a challenge”. ‘Yeah, Dr. Skotko, wait til you see how fast I can get Jack seen by all of these clinics!’ (But ‘Type A Tammy’ has been gone for about 7 years now–I miss her. Because she was skinny and she had a positive outlook on life. The loss of “Type A Tammy” is a blog post for another time, but she’s since been replaced by . . . I don’t know–‘Type Z Tammy’?) Despite my inability to book Jack to see every speciality clinic recommended by Dr. Skotko in a timely manner, I GOT IT DONE. And that’s GOTTA count for something! Maybe it took me nearly two years (remember that Jack was chronically sick with sinus infections that entire time) to follow through on Dr. Skotko’s recommendations, BUT I DID IT!
And by the time I had booked all of his appointments and filled out the necessary paperwork for each one, I realized that Jack was overdue for a follow-up with the Down Syndrome Clinic. So I completed their annual intake packet and mailed it in. When we arrived at Jack’s appointment we weren’t seen by Dr. Skotko. Instead, we were seen by a Nurse Practitioner. Don’t get me wrong–this Nurse Practitioner was a lovely woman; caring, sympathetic, helpful. But . . . she was a Nurse Practitioner. Jack was booked to see an MD. No ‘heads up’ phone call that the doctor was out-of-town for a medical conference, or that she had the flu. Nothing. And then when I received a copy of the Clinic Note from Jack’s visit in the mail, it had been dictated by the MD he was supposed to have seen! Granted, she gave credit to her Nurse Practitioner, but please don’t pretend you saw my child. Because you did not see my child.
That wasn’t right and it made me wonder what had happened to Dr. Skotko. Five seconds of internet research later and I discovered that he was now working at Massachusetts General Hospital (MassGeneral) in their Down Syndrome Program. Decision made! Jack’s going to see the Down Syndrome Program at MassGeneral as well!
When I called MassGeneral’s Program to book a consultation, I was told that I couldn’t specifically request a consultation with Dr. Skotko. Which is understandable. After all, Dr. Skotko is famous within the Down Syndrome community, so everybody’s going to request him! Meanwhile, the Program has several other highly-qualified physicians that have been part of MassGeneral’s Down Syndrome Program for a much longer time than Dr. Skotko. But when I mentioned to the scheduler that my son had already seen Dr. Skotko at Children’s Hospital, well that changed things. Because that meant my son was already a patient of his. This appointment wasn’t a “consultation”; it was a “follow-up”. (Insert an emoticon “raising the roof” and screaming “HOLLA!”)
My mom came with Jack and me for his appointment with Dr. Skotko. My mom left in awe. She said she’d never encountered a doctor like him in her life. And that’s no exaggeration.
Dr. Skotko was aware that Jack had since been diagnosed with autism. Unbeknownst to me, Dr. Skotko knew back in 2011 that Jack was autistic, because during this visit he said something like “So we suspected that perhaps Jack had autism, so I’m glad to see that he saw Dr. Stein to receive a definitive diagnosis.” Okay, whoa, whoa, whoa. Back it up here. WE suspected that Jack had autism?! Yeeeaaaah, ’cause I had, like, no idea Jack had autism until a few months ago. But instead, I chose to just nod and smile as if to imply that, yes, we were aaaaall anticipating that Jack would receive an autism diagnosis. But hey, just goes to show what an awesome doctor he is because back in 2011, he mentioned having Jack see a Behavioral Therapist to rule-out things like ADD or autism. You know, ‘just to be thorough’. And by not relaying his concerns, Dr. Skotko essentially bought me 2 years of ignorance. Beautiful, wonderful ignorance. And in this case, ignorance was bliss.
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