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.
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.
I am a PARTY ADULT.
And why not.
Today, I finished my second Falmouth Road Race for the MDSC (or really any other charity, but the MDSC represents our family, so it's natural that I represent them). As I said to my wife, "another project done that took 6 months". To reflect on the experience, I thought I would give you 7 reasons, one for each of the miles in the race.
Where to start..how about at the start?
Oh ha-ha, Steve, you are too funny. OK let's try again.
- It's good for you. I'm down 12 pounds since March, which is a funny because I'm also probably up an several pounds in muscle. Running is good for your heart, good for your legs (except for your knees), and good for your mind.
- You meet some wonderful people. This year, I met Dick Hoyt, who is half of Team Hoyt. We had a very nice conversation and he struck me a genuinely nice man. He has been a hero of mine since I read a Sports Illustrated column about him
- It's a good example for your kids (and everyone else). My kids get to see me (and other runners) who are acting in a way to help a charity. That will stick with them for a long time.
- This race is just plain fun. There are a lot of people along the route who cheer you on, offer you high fives, play music for you, spray you with a hose. I made a point this time around to accept the high fives, wave to people, get sprayed, and cheer on my fellow runners.
- It helps the MDSC in numerous ways, including money (used to help other families who have members with Down syndrome), publicity, and awareness. The team's runners this year raised over $42,000 for the MDSC. With your help and support, I raised over $3400 of that (THANK YOU!).
- It feels good; it feels right. The MDSC has given us a lot: education, information, taught us to be advocates. It feels good to be able to give back.
- Finally, it's for my daughter. Of course. Maybe someday I'll be strong enough to push her like Dick Hoyt. Someday.
The Falmouth Road Race is this weekend. I can't say that I'm prepared as I lost a lot of training time due to a knee injury, but nonetheless, I'll do the race and finish it. I'm anxious, but I'm sure I'll have a lot of fun.
Alice and I took some promo pictures for the MDSC and I also shot some pictures of Alice because the lighting was good.
E was going downstairs to spend some quality time with Stuart and told Alice that she would be staying upstairs with me. I told Alice as well, "you're staying up here with me." She said, "Mommy, where you going?" E told her again and then went downstairs. After a brief pause, Alice started to get up from the seat. "Where are you going?" I asked. "Downstairs with mommy." Facepalm.
In another forum, several people asked about my experience of becoming a parent of a child with Down syndrome. Here is that story, edited somewhat and expanded.
Where to start?
I'm going to go long-form, but that's historically my style.
Spoiler: tl;dr: it stunk.
We are, for the most part products of our families and our surrounding communities and their amalgamated cultural values. When I was a kid in the 70's, you didn't see too many people with Down syndrome in my community. I suspect that many were put into institutions. It took too long to shut down those hellholes. I knew a kid in 6th grade who had two younger sisters, both with Down syndrome. They did not go to our school. I don't know where they went. I just remember seeing them one day when I passed by his house on the way home from school. They were alien - in the uncanny valley. Maybe they rode the short bus and went to a special school. In 9th grade, I remember a guy on the basketball team singing "Mongoloid" by Devo. I knew, and I don't know how, that this was about Down syndrome. I didn't find out until much later that this was half of the term that Langdon Down used to apply to his patients. Mongoloid Idiot. The name from their general appearance due to epicanthic folds and idiot more from the notion of a strictly working class person. Down had figured out that if you educate and care for people with Down syndrome, they thrive. But I'm going on.
We were both working in a school. I was technology director and therefore also did all the IT. The server room was a side room only accessible by going through a classroom that was rented out by a county group that educated kids with severe disabilities. They had a boy named Kenny who was decidedly low functioning. He, at 13, was still wearing diapers and hardly spoke. Around week 20 of the pregnancy, I was driving us to work and in backing out of our driveway, I got rear-ended. They did an emergency ultrasound to check on her (our first ultrasound) and the tech noted a kyphosis in the fetus. A what? A slight hunching. I'm going to have a hunchback? Cool! I had no clue. Nor did the tech or they would've ordered an amnio or nuchal translucency test. Hindsight, as always is 20/20.
When Mrs. Plinth was getting close to term, I suggested that since she had lunchroom duty, that it would be totally worth popping a water balloon between her knees and taking a long weekend. The due date was April 2nd, so why not call it the most inspired April Fool's day prank.
Alice was early - 1 day full term. We had gone home from work and contractions started. E was having trouble sleeping, so I excused myself to the couch figuring that I needed to be more clear headed to drive in. Around 3 we went in and got checked in. The facility was nice and we had a birth plan and a cord blood collection kit. Things didn't progress. They had a whirlpool tub and E tried to relax in the that while I promptly fell asleep sitting on the tile floor. If she could have reached me, she would have belted me. (Ed note: E says that she did, in fact, hit me. I guess I was pretty out of it)
Things were still not progressing. The doctors monitored fetal heart rate and it wasn't looking good. They decided that we would steal the team for a scheduled C section (yoink!) and they prepped E. I was disappointed. I had had training in emergency child birth and I wanted to deliver my child. They brought me scrubs and I changed and shot a mirror selfie. I tried hard not to think about how this kind of event in the not-too-distant-past would often lead to the deaths of either or both mother and child. The picture shows otherwise - I was distraught. A few days earlier, we had seen the movie "Catch Me If You Can", a story of Frank Abagnale who was a professional forger and job chameleon. I told E that I promised I would not go wandering off in the hospital and start diagnosing patients. This was not as comforting as I had intended because up until that moment, she had never thought that was on the table (trivia: at one point I successfully diagnosed one of my own doctors with Bell's Palsy).
They wheeled her in to the OR and I sat next to her head behind the curtain and joked with the anesthesiologist. They started cutting her open and I wanted so badly to stand up and watch. One in my position does not often have the opportunity to see inside a human body, living or otherwise. Still, the rational side kicked in - at that moment there were two patients, even though I'm not squeamish, there was no need to make a surprise third patient. The room contained, us, the anesthesiologist, the surgeon, E's GP, E's midwife, and at least two other nurses.
They pulled out my daughter and started to run through the usual things: goop in the eyes, goop out of the nose and mouth, run the Apgar. But then the tone in the room changed. In watching what was going on I could tell that everyone was working. They weren't just going through rote. All conversation stopped and they were speaking in curt professional words. They were also using an ambubag on my daughter and one doctor was doing chest compressions. This wasn't good. They wrapped her up and were ready to put her in a very serious incubator with heart monitors before I stopped them and made them show my daughter to my wife, who had not yet seen her own daughter and was incapacitated with her uterus resting inside out and being scraped clean.
In recovery, there was a lot of hushed tones outside our room. We waited. And waited. At one point, the entire team came in to see us. This did not look good. It was a smallish room and now there were 6 other people in there with us. The surgeon said, "Mr. and Mrs. H., your daughter had seizures when she was born. We think she had a stroke and we think she had Down syndrome. We need to transfer her to Hospital B, which has a NICU."
We both wept. Wailing. Gnashing of teeth. Worst possible news delivered brusquely by a team that didn't know how to do any different. No it got worse. E's GP, who several weeks earlier offered to be Alice's pediatrician, retracted her offer. She didn't think she was up to the task of being a doctor for a child with special needs. I lost all respect for the woman in an instant. (trivia note: one of the doctor's we stole was from a local pediatrician's office. We selected her as Alice's pediatrician - a decision that proved itself when she let us know that she was intently reading up on the care of children with Down syndrome on her vacation).
It got worse. You fill out all this paperwork, we're sending your daughter to the NICU, we're keeping your wife here. Forget the cord blood collection - the company didn't know what to do with it. I took my second step on the road to being an advocate and corrected the hospital staff. No, in fact, they were going to transfer both them. E was in recovery, shouldn't she be in a place where she can nurse her child?
I found a quiet place to call family and friends to let them know what we knew. I wasn't supposed to use a cell phone in the hospital, but fuck you. The midwife stopped by and was ready to chew me out, but thought better of it and asked me if I needed anything. I said I needed a hug. She obliged and I wept. My opinion of her skyrocketed.
Still, it got worse. They ran genetic tests while they determined that my daughter had a stroke and now had pneumonia. They sat us in a dark office in the basement and confirmed that Alice had Down syndrome in all cells tested (not mosaicism, which we were hoping for). The rep handed us a sheet of out-of-date information. The rep couldn't answer our questions about the future. She was useless.
The experience of a crowd of medical professionals coming in en masse to let us know their suspicions was a challenge. The lack of useful information from the genetic counselor was icing on the cake. This was a hard introduction to parenthood and one took a long time to get appreciably better.
When I wrote First Lady, Michelle Obama, I also wrote my state governor and my local and state representatives. Today, I received a rejection letter from Massachusetts Governor, Deval Patrick's office. This time, the rejection letter was way better. Just read it:
In this case, it is polite, specific, and congratulatory. It indicates that someone in his office actually read my letter.
Once again, nothing ventured, nothing gained.
And of course, if you donate here, you've can say that you've helped me out more than Deval Patrick and Michelle Obama combined!
Early on in working on fundraising for the MDSC for the Falmouth Road Race, I had a hare-brained idea: I would contact people in the public eye and see what happened. Nothing ventured, nothing lost. I sent a letter to Michelle Obama as well as my state and local representatives and for grins, Al Franken. Today I got my first response from the White House:
It is, of course, a rejection form letter. I find it entertaining that there is apparently a stock form letter for "asking Michelle Obama for fund raising money". I find it disappointing that the handler of this particular letter thought that the government grants web site would be an appropriate place to search for aid, especially since it fails badly on timeliness aspect. This, in particular, says "we barely read your letter, but were able to roughly sort it." On the other hand, I appreciate the quality of the paper (watermarked) and that they ran it through the autopen robotic signature machine. On a purely aesthetic level, they could have chosen a much better font and used the proper "ﬃ" ligature for "Ofﬁce" and "ﬁ" for "fulﬁll".
In other news, I've reached my personal fundraising goal, which is fantastic - thank you for all your help. If you've donated, you can rest assured that you were more help than the White House. Of course, I would like to go above and beyond, but that's in your hands. About a month to go.
New England Public radio ran a story today about birth defect testing. The full story is here.
I sent them a note in response, which I've included here:
To whom it may concern,
After listening to your story, the problem with almost any discussion of prenatal genetic testing with Down syndrome is that society presupposes that people with Down syndrome offer nothing to society. This is certainly not the case, as I have seen in my own daughter, or perhaps you have if you have seen her in PVB ballet productions in the past 4 years.
I believe that the issue is that expectant parents who are ignorant of Down syndrome are taught to fear the possible outcomes because it might be hard or challenging by doctors/genetic counselors who have also bought into this story.
I'm glad to have heard many voices that I know in the area in covering this contentious topic. I would have also hoped that you would have contacted the Massachusetts Down Syndrome Congress for comment as they have been instrumental in support and advocacy for families with a member with Down syndrome in Massachusetts.
Feel free to contact me if you have questions. I also maintain a blog about parenting a child with Down syndrome here: http://www.plinth.org/wordpress/
I guess I'm an advocate.
Good news on training for the Falmouth Road Race - I'm making good progress and my knees haven't been bothering me nearly so much, but I've been icing them regularly. Also, I'm approaching my goal for the MDSC, but of course I'd like to exceed it. Care to help? The link is here: http://www.plinth.org/frr (which redirects here). Donate or share the link too!