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: