Max has Noonan’s syndrome. Let’s play…
Good News/Bad News
how to play: in the list below, identify those items that are good news, and those that are bad news.
Example: The next time someone says, ‘at least it’s not cancer/Down’s syndrome/boy-in-the-bubble disease/etc.’, I will run screaming down the street in an attempt to avoid inflicting bodily harm on them.
Answer: Good news! Because look at all that exercise I’m getting.
Ready to start playing? OK, good.
- There are numerous comorbidities with Noonan’s syndrome. Heart defects, clotting disorders, hearing problems, vision problems, stunted growth, developmental delays, etc.
- Based on yesterday’s clinical evaluation, Max’s doctor thinks that the gene that accounts for his Noonan’s syndrome is BRAF. This would mean that he is likely to have more severe impairment than your typical Noonan’s kid. Test results for this gene should take 4-6 weeks.
- Feeding difficulties should resolve by age 2-3.
- ‘Feeding difficulties’ makes me laugh every time because c’mon the little guy is starving, his head’s bigger than his body and his little bird legs will make you cry to look at them, he takes all day to drink a measly 600 mL, and we can’t come up with something a little more punchy than ‘feeding difficulties’? It’s like calling Belushi’s coke problem an ‘overindulgence’. It’s true, he overindulged; it’s true, the feedings are difficult.
- Having the diagnosis means that we can stop the awful gastrointestinal tests and the blood draws and the thrice-weekly doctor’s office visits and the worrying that if we only held the bottle just so, he would be magically all better.
- One of the symptoms of Noonan’s syndrome is slackness in the skin. This makes Max’s skin so, so soft. The backs of his hands are satiny, and his cheeks are absolutely made for smooching. Frida presses her cheek to his cheek and sighs with contentment. It’s darling.
- He’ll grow very slowly, so he can wear his rainbow onesie for months! So cute!
I’m concerned that the balance is still tipped to the ‘not good’, so let me add some other news from the week:
- I found three perfect pairs of nephew-sized gently used lederhosen. The nephews are 4, 6, and 8 years old. If it is possible to wear out lederhosen, and I think it’s not, they will be the ones to do it.
- After decades of complaint re: thrift stores not being arranged primarily by size (what’s the use of finding perfect red silk moon pants in a size three if I’m a size three-to-the-power-of-2.4?), I happened across a large-and-tall thrift store with everything arranged by size first, then by type of clothes, then by color. You just go to the rack of clothes that fit you, you look through them, buy the ones you like, and you’re done.
- I made sweet corn soufflé for the little ones at Frida’s Neverending Recess School, and they loved it. Timely, since the eggplant parmigiana I’d brought the week before somewhat tarnished my reputation as someone who is sensitive to the palates of the under-3 set. Here’s the recipe:
- 4 eggs
- 1/2 cup mascarpone (or sour cream or cream cheese or similar)
- 1 cup cornmeal
- 1 1/2 cups milk
- 1 cup corn (fresh or frozen or canned or, in my case, jarred. Odd, no?)
- black pepper
- a tiny bit of salt if it’s for kids, a good bit if it’s for adults
Preheat the oven to 375. Melt some butter in an oven-proof frying pan over medium heat. Pour the batter into the frying pan, and let cook, undisturbed, on the stovetop until the edge is set. Then either put the pan in the oven until it’s puffy and only a little jiggly when shaken, OR cover, turn the heat to low, and cook on the stovetop until the middle firms up OR give it a stir, turn down the heat a little, and cook it like scrambled eggs. If you do the latter option, stir gently so that some of the bottom pieces from the first few minutes of cooking (where the polenta settles and gets toasted on the bottom of the pan,) stay intact.
Last bit of good news: the sunglasses that looked cool in the shop and then ridiculously overlarge when I got home are actually perfect for the walk home from the geneticist’s along the teeming boulevard where many of our neighborhood acquaintances were out enjoying yesterday’s sun. With these sunglasses, you may give a simple wave rather than stop and explain why your eyes are so absurdly bloodshot:
Why, yes, that's the back of Max's head.
Here's the front!
Today’s post is brought to you by:
There are many funny and enlightening stories from the week, like the one about how I learned that I need to use my debit card at least weekly or else I forget the number, or the one about how, at Max’s cardiology appointment when I said, ‘Ooh, amazing, it’s such a sophisticated machine!’ in a tone of wonderment and awe, the cardiologist thought that I was talking about the sonogram machine (and his incredible prowess in commanding such a machine,) rather than my son’s heart as seen on the monitor. Hahaha, but no, this post is not for stories about how the cardiologist thought that I was the cardiology practice’s equivalent of a Guns n’ Roses groupie seeing her first Corvette, no, this post if for kid pictures. Here we go.
we love stripes!
Cuties in the morning
and, just in case it works, a little movie:
Frida and Max, June 2013
Max is developmentally delayed, and not just compared to Frida, who was shoeing horses at his age. (Why am I being coy about Frida’s exceptionally fast development when there is now, in Max, proof positive that her exceptionallism had little to do with my parenting skillz? I don’t know, but there’s plenty more where that came from. Similarly, I would tell you about how much Frida loved this morning’s banana/milk/tofu smoothie, but then I would have to tell you that the secret ingredient was Nutella, which doesn’t count as my daughter liking tofu, it counts as my daughter liking chocolate first thing in the morning.)
Max is developmentally delayed compared to last week’s Max: he used to hold his head level when pulled to sitting, and now he doesn’t. He used to smile a fair amount and giggle occasionally; now he only very rarely smiles, doesn’t make any eye contact, and is no longer making any noise voluntarily. I bring this up to get the awful news out of the way: Max is Max, and he’s having a hard time and will likely continue to have a hard time. We’re committed to making his life as happy as possible blah blah blah etc. and he’s made some progress in the last two days, but there’s no denying that this situation sucks. Now that we’re clear on that, let’s move to the fun stuff:
- Frida’s name for Max is, predictably, Mack. Because Max has an abnormally wide ribcage, a depressed sternum, and just about no body fat, he is practically two-dimensional: except the head and feet, he is about an inch and a half wide from the side view. We say that he is built like a Mack bicycle.
- Last week’s macaroni and cheese for the tiny darlings at Frida’s school went over like a thousand angels riding a thousand rainbow-flavored unicorns blowing a million bubbles. The apricot-zucchini muffins we had for dessert went over like a full-fat, freshly baked apricot-zucchini muffin, which is to say pretty darned well. Because this is Germany, I got the usual question about the difference between a muffin and a cupcake, and I gave the usual response: there is no such thing as a zucchini cupcake.
- Do marinate some lamb chunks in well-salted yoghurt before grilling them on a hot fire. Do.
- At the ripe old age of 36.9, I’ve finally come around to the notion that if you’re hosting brunch on Saturday and on Sunday for two different groups of guests, you can serve them the same thing. Holy shitballs, does that make life easier. It also makes for quite a fun moment when you realize that, between 9 am Saturday and noon on Sunday, you’ve consumed an entire side of smoked salmon, a restaurant-bound-get-it-from-the-back-of-the-fish-shop-sized container of tiny North Sea shrimp, 2 dozen eggs, a quart of homemade pickled beets, 2 pineapples, flats of berries, and an entire kilo of really decadent chocolate mousse. A KILO. And you know what I just realized? Saturday’s brunch guests skipped dessert in favor of a walk around the neighborhood, which means that Tobias and I each ate about a pint and a half of mousse in 18 hours. Hope Max enjoys his chocolate milk tomorrow.
Thanks for all your thoughts and wishes. They help. Sorry if you’ve submitted a comment that I haven’t addressed; I just went through 10,000 spam comments (literally 10,000,) like a NEWSFLASH NEWSFLASH***for the first time, I can think of a word in German but not in English. That’s good, right?***END OF NEWSFLASH like a scallop trawler goes through a sea floor. Indelicate, is what I’m saying. Indiscriminate.
If you think I know the word for ‘trawler’ in German, you’re dreaming. The word I was looking for was scallop. Because God forbid I have to change my analogy to something involving a tuna net going through a pod of dolphins. It’s too much, with those darling dolphins. Let them live, I say, and I’ll just use Google translate if I need to before remembering the very odd word that is ‘scallop’.