The Patient Patient

We consider ourselves very lucky when it comes to Rumi’s diagnosis. She didn’t need any medical interventions when she was born, and she has no ongoing medical issues that we know of. Even though we were braced for an esophageal atresia before her birth, the worst moment we’ve had to deal with in the past three years was an anxious day at the dentist while she had three root canals while under anesthesia. The irony there being that her enamel defect is not connected to her Ds and just an unlucky draw on the genetic lottery. 

I don’t say any of this to brag, but merely to point out that while other warrior parents constantly have their guard up, ready to deal with the next procedure their Little One has to endure, we’ve been coasting in a bubble of “Things are going pretty smoothly here.” You might call it naiveté, or denial, but we tend to be pretty positive people so we try not to dwell too much on the “What if’s.” It’s usually not until the snowball is dripping off of our glasses that we look around and think “How did we not see THAT coming?”

(You’re already ahead of me aren’t you, Savvy Reader? You see the turn coming before we did. But fear not, it’s still not all that bad.)

After we finally got settled in Pennsylvania, mostly, and figured out Dashiell’s school situation (he’s doing wonderfully) we started focusing on getting Rumi into the local healthcare system.

Because of her diagnosis she automatically qualifies for Medical Assistance here, which is a BIG relief because I still haven’t locked down steady work. (Man, did I not see THAT coming.) And the Down Syndrome Center at UPMC is pretty amazing. It stands in stark contrast to the care we were getting at Kaiser Permanente. To have doctors that know more about Ds than we do, who are genuinely interested in Rumi’s care, is startlingly refreshing. 

When her new GP got down on the floor during our first appointment my first thought was that he was having a heart attack or something. When I realized he was getting down on Rumi’s level, to engage with her instead of just talking about her through us, I was impressed. I didn’t know it could be like this. 

He went through her history and asked about all the pertinent issues a person with Down syndrome might be experiencing in their third year of life, and all the things we needed to be aware of going forward. We knew we were behind on a few tests because of the move, so he recommended we get blood work done that day so we could evaluate her thyroid and look for any other issues that might be lurking in the dark. 

Thyroid issues occur about 25% more often in people with Down syndrome, and they can be difficult to diagnose because the symptoms can overlap with other issues. I mean, “fatigue, mental sluggishness, weight fluctuation, & irritability” would also describe me since our move and my thyroid is fine…as far as I know.

Along with the blood work we also lined up a number of other appointments:

Ophthalmologist

Hearing test

Dental exam

Orthotic shoe measurements

At each and every one Rumi was a total rock star. She was bubbly and patient and allowed each professional to poke and prod her without so much as an “ouch.”

I mean, the last time I got a blood draw I nearly passed out when I felt the warmth of my own blood traveling down the plastic tube along my arm. In fact, I might need to lie down just thinking about that moment.

And after all that we learned quite a lot.

First, her hearing is great, which I could have told you since she comes running from any room in the house whenever a Lara Bar is being opened. Everything is holding steady in the dental department. The front tooth that’s been repaired has a crack, but the dentist isn’t keen to do anything about it yet because it’s a baby tooth. Getting her orthotic shoes should help her arch support and take some pressure off of her ankles as she moves from walking everywhere to wanting to run everywhere. 

But the turn, you’re asking, where is the turn?

The first was her eye doctor’s suggestion that she’ll probably need surgery to correct her right eye from turning in more than it should. She’s always tilted her head to left, more so when she was younger, but she still does it when watching television. At first her OT thought it was Torticollis, which affects the neck, but her new ophthalmologist believes it’s Esotropia, and it will probably only be corrected with surgery. 

The next bumps in the road came when we got the results from Rumi ’s blood work. She has Hypothyroidism, which means her thyroid isn’t producing enough hormones to help her body work efficiently. This also means she’ll be taking a pill every day for the rest of her life. Or at least until medical science finds another way to counteract the poorly performing thyroid. 

But the pills are small, and easy to take, and will become just another part of our morning routine. As much as I wish they weren’t there, I’m grateful we had her tested when we did. Rumi doesn’t often show signs of discomfort or pain, so we’re not really sure how long she might have been feeling these symptoms.

Speaking of symptoms, and how it can be hard to diagnose certain issues because sometimes the symptoms overlap, we also learned that Rumi probably has Celiac’s Disease. This one is a real bummer because her two favorite foods are toast and pasta. And it’s not the hassle, for the grown ups, of needing to provide a gluten-free diet for her, but it’s the fact that we’ve been stuffing her with these foods on a daily basis. Not the pasta, but the toast. My god, I think that might have been her first word. She had it with every meal there for a while. Toast three times a day. And she could eat mac and cheese every day too if we let her. The kid loves her carbs.

She has a biopsy scheduled for next week to confirm the Celiac’s diagnosis. The day before the biggest gluten-y feast of the year my baby girl could learn that she might never know the comforting taste of Great-Grandma Jane’s homemade noodles. And that, to me, is the saddest part. 

But we’ll weather these twists and turns as we do all others, with positivity. We’ll create new family traditions around gluten-free favorites, and Rumi will continue to grow and thrive and shine. We’ll grow complacent and comfortable, content in our gratitude bubble, unaware that the next twist in the road could be lurking just ahead. 

But we’ll worry about that one when we get there. At the moment, everything is just hunky-dory.