Definition by Diagnosis

I read this blog today which is a mom talking about how she doesn’t want to define her daughter by her diagnosis.

I agree. And I disagree.

Darn it. It’s one of those gray areas.

See, Down syndrome is like a staircase injury. If 100 people fell down the same staircase, you are likely to have 100 different injuries. Mind you, there will be a certain commonality in all the cases: bruises, sprains, strains, and so on.

As a parent, it is important to know and to understand a lot of what can come along with the extra chromosome because it will affect how you care for your child and how you can work to best help your child grow up well. The effects of low muscle tone are pervasive, sometimes for the better, sometimes not. Being aware of it lets us spot where it is or might be causing problems and we can make adjustments in order to help her out. If we don’t keep an eye out, it will make things more challenging for her down the line.

Another example, about 10% of people with Down syndrome have Celiac disease. When we found this out, we made sure that at her next checkup she had that screening done – surprise, surprise, Alice won that lottery. Once we had the gluten fully out of her diet, the weird skin rashes went away. Since Alice isn’t so good at communicating her health, it is vital that we keep our eyes open for exactly these kinds of things.

Other things in the list of typical characteristics are just, plain unimportant. Palmar crease (favored over Simian crease), Brushfield spots, epicanthic folds, short neck, nucal fold: not important. Not in the least. They might be present, but their presence makes no difference in the daily life of the child other than shoving them a little further into the uncanny valley in other people’s eyes. Other aspects are are all over the place in terms of importance.

One of our many jobs as parents is to rank order these elements and decide what we’re going to do or not do. Congratulations to you, Deanna, for seeing your daughter through an implant of an Amplatzer device for her heart. 6 years ago, we were looking at that decision too – fortunately for Alice, her ASD closed up on its own (trivia: 8% of hear defects in Down syndrome are ASD).  So yeah, take care of the heart, take care of the brain, watch those tiny ears because they harbor all kinds of infections that may lead to hearing impairment or loss later on, keep her sitting up straight and not collapsing on herself (low tone) so that her speech will be clear.

Define her by her diagnosis? No. Deny it? No.

Walk hand and hand with it and know when to give Alice a helping hand for some things and when to later take that hand away.


I still Find This Freaky

Alice sleeps with her eyes partly open.



Family Ballet

Alice is, once again, going to be performing in the PVB‘s winter production of The Nutcracker. In previous years, she has been a reindeer (twice) and a gingerbread cookie (twice). This year, the production has added some new roles and Alice will be a Holly Tree.

She was, honestly, a little disappointed. I think she wanted to be a Candy Cane. It took some reminders that the ballet casts her role and she agreed to accept whatever part she was assigned, and now she warmed to it.

I had been thinking about auditioning for the ballet too. There are a number of adult roles that require nearly no skill and they have foolishly agreed to let me perform.



And why not.