Rare Disease Day: Thanks Docs! From a Mom Parenting a Zebra

There's an old bit of advice given to doctors. If it has four legs and a mane, and you're not in Africa, it's probably a horse, not a zebra.

In other words, when diagnosing a patient, don't look for the rare diseases first, look for what is most common. And that makes sense.

But what happens when your child IS a zebra?

Today is Rare Disease Day, so in solidarity with other parents of rare disease kids, I offer up this ridiculously cute picture that sums up our world.

Photo of boy reading newspaper

Being the parent of a zebra means
a. lots of lab draws and appointments with specialist (in this photo he waits for yet another blood draw to test kidney levels)
and
b. (if you're a parent like me) lots and lots of research and reading whether it's
-- reaching out to the fifty other parents nation wide whose kid is like yours
or
--reading (and trying to comprehend) journal articles and college textbooks to learn the anatomy and medical language necessary to understand the lots of lab draws and appointments with specialists (see "a").


But don't feel sorry for us. The rewards are greater than the costs. I think that is ALSO summed up in the ridiculously cute picture above.

Happy Rare Disease Day. Thank you to all the doctors out there who are studying these rare cases. You're helping us find ways to make life as great as possible for kids like mine.

More gratitude - The sun has come out again

Checking out the toys

Y'all know that J is small and developmentally delayed. And y'all know that some of that is from his prematurity, and some is from the long undiagnosed renal tubular acidosis.

Saying he's "developmentally delayed" is harder than admitting he's small. I want to strike it out with all the "BUT"s of his life. "BUT he's trying so hard, BUT he's almost up to 50 words. BUT you wouldn't know it looking at him. BUT he's not THAT behind, BUT it's from the lethargy of undiagnosed RTA." But no BUT will remove the delays from his chart, not yet.

We had an appointment with the developmental pediatrician today to check up on these issues and get an overall sense of progress.

Winter gray lifted and the sun showed through scattered white clouds the full there and home again. I knew the sun would come back again, eventually.

As he played in the waiting room, another girl, just his height, came and joined us. He viewed her with cautious curiosity, and she saw him as an instant friend. They played side-by-side for a while, and then she jumped up on a table that was just above waist height for her. He regarded this with some surprise.

"Learning bad habits, are you, buddy?" I said to J.

"Oh, get down from there! You're teaching him bad habits!" the other mom echoed to her daughter.

"It's okay," I said, "He doesn't have the strength to do that. And, honestly, if he did, I'd be thrilled."

Because the two looked like twins in height and build, the next question was inevitable.

"How old is he?"

"Oh, certainly older than she is." I said, "He's a tiny guy."

She nodded at my redirection and turned to her daughter. But, looking at them side by side, exactly the same height and playing so similarly, curiosity got the best of me, too.

"So, how old is she?" I asked.

"Almost two," her mom beamed.

"Ah!" I said, and then, because it would be rude not to share, "He'll be three in July."

"Wow, he IS itty-bitty!" she replied.

But do you know what? The comment didn't sting. Through that entire interaction, watching him with an almost-two-year-old who was clearly stronger than him but not THAT different, I couldn't help but smile with gratitude. "She's an almost-two-year-old." I thought, "That means he looks like an almost-two-year-old and he acts like an almost-two-year-old. He might look like a two year old before he turns three!" I thought, "And he's getting so strong,"

Our conversation stopped there as the nurse called us in. Jonathan heard her call and walked HIMSELF out of the waiting room (a first), head held high with the confidence of a toddler who knows where he was going. I followed him, still smiling, thinking of the little girl.

In the doctor's office, he paraded himself around the room with glee. I marveled that his rib cage was no longer visible. Four months ago I had to keep him strapped in the stroller to keep his hands off the dirty floor. This time around he never once tried to crawl. He was terribly helpful with his physical, showing the developmental pediatrician how to use the alligator hammer to check his reflexes, and reminding her that a fun looking twirly wire connected the fundoscope to the wall. What a difference from the lethargic stares of last spring. So grateful.

He weighs nearly 9.5 kilos (20.75 lbs) and is 31.25 inches. He's still off (below) all the charts for height and weight by age, and he's sitting right around the 5% weight-for-height ratio, but that's really good compared to a year ago, on all accounts. Our weight goal is 10 kg by April -- a goal that seemed impossible when we set it last fall, but he is getting there. Ah, gratitude.

The developmental pediatrician commented on his muscle tone. "I have written here from our last visit 'low muscle tone in ankle,'" she said, "but he's not any more." She gushed. I'm overjoyed.

The endocrinologist doesn't think J has any hormone related ailments. The GI doctor thinks he looks great and confirmed that NEC was likely the cause of his zinc deficiency, which is an answer to that question. Both specialists have one more follow up appointment (one four months out, one a year out), but in both cases, I think that just may be the last we see of their offices.

We've seen huge gains with the in-home physical and occupational therapists over the last two months (it's hard to believe it's only been that long) and so at today's appointment we arranged for him to switch to inpatient therapy after he's out of isolation. I was reminded that April was just around the corner.

I could climb this -- if I wanted to.

The drive to inpatient therapy is not short, and it'll mean weekly appointments in the Big City, but this boy is taking off -- and it seems for the first time in a long time that "catching up" might just be a thing for him. It will be a while yet, but we are so grateful.

These amazing developments (well, other than the emergence of the sun) brought to you in part by nephrologists, fixers of the kidneys, and by bicitra, the medicine that is correcting J's renal tubular acidosis. This month is national kidney month. We remember you this month, kidneys. Thank you for keeping us alive, giving us energy, and helping us pee -- all year round.

Toys & Games for CP / PVL kids

It's getting close to Christmas, so let's talk toys. I can't speak for all two year old boys, nor can I speak for all special needs children, but maybe some of my ideas for my child will give you ideas for the kids in your life.

Jonathan has periventricular leukomalacia.  Which on the surface seems to mean he has a mouthful of impressing sounding words and another acronym (PVL) in his medical charts. I explain PVL (in his context only -- not an appropriate explanation for all kids) here. But my one sentence explanation (which, of course, is not at all medically accurate, but gets us close enough for dinner conversation) is that PVL is "a close cousin to cerebral palsy."

Whether from PVL or prematurity, he has a weak core. He has difficulty drawing because he doesn't push down hard enough. We've discovered that a magna doodle is A MUST HAVE. He loves it, because without exerting much force, he still can draw lines.

In addition, he has difficulty letting go of things gently, which makes it difficult to stack things. He's a fantastic kid, but he's weak and clumsy.

So I was DELIGHTED to find this website. (https://www.fatbraintoys.com/special_needs/cerebral_palsy.cfm) I especially covet the Brio Magnetic Building Blocks. I wish Santa hadn't already finished his Christmas shopping for our family.

Another accidental find was "the duck." You see a picture of the duck below. We got J the duck because he hates baths. And we thought if he felt more secure in a bath, he'd like baths better. So far it hasn't worked. BUT -- as long as the duck is not filled with water -- he LOVES the duck. The PT and OT that come to our house love the duck too. J reaches to the side to pick up toys and put them in the duck. He climbs in and out of the duck. In other words, he engages his weak core all over the place.  We found this in the baby bath section of our local grocery store.

In other news, you'll notice in the first picture that J's walker sits under the Christmas tree, "a crutch... carefully preserved" as he has learned to (mostly) walk around the living room without the walker. He still walks better with AFOs, but he'll walk around without the orthotics now as well.  Merry Christmas, and "God bless us, every one." (for my obsession with Tiny Tim, see this article where a doctor convincingly puts forth the case that Tiny Tim, like Little Jon(athan), had renal tubular acidosis.)

P.S. The duck that he holds in his hand? That is the same duck that you see in his pictures from his 12th day of life, below. See how much he's grown?

Comparing

Last year not-smiling

Parenting rule #2:  Don't compare. Just don't. Unless you're comparing your own child to themselves.

Granted, no parent actually FOLLOWS this rule, but we know we should. And that is at least something.

JAM weighs a hefty 18 lbs 4 oz at two years old. We're not thrilled because that's a horrible gain in the last year. (See? I'm only comparing him to himself! What a good parent I am.) I'm not concerned any more, though, since the amazing nephrologist just recently figured out all that "failure to thrive" stuff.

This year not-smiling (see mom, I grew THIS much)

There are a few plus sides to being small. T-shirts last longer.The pictures below are from his first birthday AND his second birthday -- same shirt. And, at least he's behaving developmentally appropriately (he's advanced even) for his appearance.  He looks like about a 12 month old now, don't you think? That's what our neighbor guessed when we told her it was his birthday today.

Last year's smiles: part 1

He deserves an extra year. At birth he was 4 months behind his peers. Then he had six surgeries before discharge. I figure every surgery puts me around a month behind -- so there's another six months. Well, we'll say five, since one was "merely" eye surgery, and he's a kid, so he heals faster than us adults. Add two more major surgeries before he was one, each requiring about a month of healing, and you've got a total of eleven months of disadvantaged environments in his first twelve months of life. Ugh. Math only leaves him one good month in that first year. (I'm guessing that was the month of May.)

Okay, so that's rough. Then add to that that in his second year of life he spent most of the time undernourished and exhausted, with his body stealing from his muscles and bones to keep his pH closer to balanced -- and you'd expect to see a kid who is just barely hanging in there.

But that's not the kid we see. (Anymore.) Our child is doing so remarkably well considering it all. There were moments in the last few months where we were really really concerned, where I cried tears of frustration and hurt at the small tired baby that lay staring at the light because his energy reserves were gone. But then, even then,  he'd bounce back up again, moments later, and trot around the room on all fours, his head high like he was showing off for the world. His spirit was not crushed. Perhaps this babe has figured out the secret of how to live on love alone.

Next year, bud, next year we'll add good-old-fashion nutrition to all that love friends and family have poured on you. Next year is going to be amazing. You'll finally outgrow that shirt.

Last year's smiles: part 2

This year's fuzzy smiles

Last year: awkward pose

This year: awkward pose part 1

This year: awkward pose part 2

Bonus picture. (This year.) I love this kid.