Next week is my kid’s Ridiculously Rare Syndrome Awareness Week (NB: not its real name). My guess: you probably still will not have heard of it after the week is over. But they have been doing a surprisingly good job of getting it covered by some news organizations.
Recently I bought a bunch of car magnet ribbons to donate to the Ridiculously Rare Syndrome Support Group so that they could sell them and raise money. The design-your-own ribbon company default suggestion was “Ridiculously Rare Syndrome Awareness.” But that didn’t seem right, really. What does it matter if anyone is aware of it, as such? I decided to go with, “I love someone with Ridiculously Rare Syndrome.” Seemed more to the point. The sheer number of awareness ribbons is dizzying. (I even found out there’s one that could apply to me! There’s a chronic migraine awareness ribbon!). It seems as if “raising awareness” is an end in itself. And what does it even mean?
Well, it can mean a lot of things. Some very useful. Some perhaps not so useful.
I think it can be useful when the goal is not simply awareness itself. Awareness is a means, not an end. Products plastered with pink? Not so useful. Not so clear where the money is going and how much of it is going. A campaign to encourage mammograms in 40+ (or 50+, or whatever) women? That makes women aware of the possible benefits? Very useful. I saw a sign today that was a cartoonish image of two older women that said, “Best boobie friends since high school.” What does that mean? And “Save the ta-tas” or “Save second base.” To what action is that supposed to spur me? There seems to be something of a backlash against the pinkification and cutesiness of some of the recent breast cancer campaigns in particular.
Awareness campaigns can really do something: seatbelt use, designated drivers, condom use. My concern is that when someone buys a yellow bracelet, or a pink ribbon, they feel a moral salve and think their work is done. Giving to charity causes pleasure. I worry that when the pleasure is gotten from wearing a yellow bracelet, it is not then sought from actually donating a significant amount of money or volunteering. I worry, too, that awareness ribbons raise little money and spur few to any action (I have been able to find no data on either of these worries – if anyone has it, I would welcome it.) Hence my objection to No Mother’s Day, which listed a vague possible chain of events that somehow assumed conversations would start and then, eventually, lives would be saved.
If the question, “Why do you want to make someone aware of X” has a clear, direct answer that states a goal, that seems beneficial. It was pretty awesome of Katie Couric to get a colonoscopy on live television in an attempt to destigmatize it and make people aware of benefits of early detection after her husband died of colon cancer.
Here’s the example I know about. I was pleased to see that the official line on why there was an Awareness Week for my son’s syndrome is not simply awareness (although that is how some parents talk about it). There is plenty of outdated information on the syndrome which comes up quickly when googled that scares the living daylights out of new parents receiving the diagnosis (it basically says that your child will likely die within a year, which is not the case). Doctors, too, sometimes give the outdated information as a prognosis. The organization wants to change that. Seems a good idea to me.
]People have no idea what it’s like to live with someone with a severe cognitive and pyschomotor disability. I certainly didn’t. There are exactly zero that I’ve ever heard of on fictional TV. (The only cognitive impairments I’ve ever seen on TV characters are extremely high-functioning Down syndrome or Asperger’s.) If people knew what it was like, perhaps there would be more willingness to donate for medical equipment, respite care, home modifications, etc. So that would be awareness to an end.
But, having said all I just said about awareness to an end, I must admit there’s more to it than that. I really do see the appeal of the ribbons. A couple of famous parents of kids with very rare and severely disabling syndromes have talked openly about their kids, and have funded charities. More important to me than the charity is that they talked about it. Robert Horry has a foundation in honor of his daughter who had 1p36 deletion syndrome, and Colin Farrell on Letterman talked about his son with Angelman syndrome. When they talk of their children with love, they let people know we parents of severely disabled kids with very rare syndromes do love our kids. And I want people to know that. Will it raise money or volunteers? I don’t know. But when I see Colin Farrell talk in that video, I see me – rushing to reassure people that as far as I’m concerned, my kid is doing great and I really adore him. Even though they think I’m probably suffering and he’s suffering. Is that as worthwhile as home modifications? No, but I must admit that desire is there. I’m also glad he talked about how rare syndromes are underfunded in case that spurs interest in donations. But I’m mostly happy to hear him talk about how he loves his non-verbal kid. And, I admit, I have one of the “I love someone with Ridiculously Rare Syndrome” ribbons on my car.
So I suspect that when I see an autism awareness sticker, or a breast cancer ribbon, and I think – people are already pretty aware of autism and breast cancer! – I’m missing something that person is trying to tell me about what their life is like and how I misunderstand her. While I understand (and give in!) to the impulse, we should all bear in mind that ribbon may not be particularly effective at much of anything. But the causes they tout usually need efficacy. For those of us who have a cause we care about, and who use the phrase awareness, would do well to make sure there is always something specific, and useful, of which we want to make people aware.
Rose-
Is there a reason you never refer to your child’s condition by name? I’m curious to understand it bettr but certainly don’t want to impose onyour or his privacy.
Because it’s so rare that I am the only philosopher with a child with it. People who stumble across this page might figure out who I am. But I want to remain anonymous from anyone who searches for me, most importantly students and work colleagues, but to a lesser degree syndrome parents (many of whom would know who I am immediately — it’s a very small community). So I don’t want it found in a google search.
But it’s this syndrome: http://learn.genetics.utah.edu/content/disorders/whataregd/cdc/
(Hey, it’s awareness week, right?)
His rare variant is that it’s a de novo unbalanced translocation. A piece of one chromosome is missing (which results in the above Ridiculously Rare syndrome). That’s all most people with RRS have. An unbalanced translocation means that in place of the missing material is an extra (that is to say, a third – there’s the usual pair plus this bit) part of another chromosome. Most with RRS do not have it. This extra bit does not compensate for the missing bit. Any time you have extra genetic material, it is not usually good news. Usually an unbalanced translocation is inherited from parents who have balanced translocations. “De novo” means this was a spontaneous mutation.
So RRS is one syndrome, the other syndrome (the partial third piece) is so rare that there are less than 100 cases I’ve found in the literature.
Thank you. I figured that might have been the case. Consider me “aware”. 🙂
Happy Mother’s Day.
Finally! I’ve been dying to know. I don’t currently, nor have I ever, provided service to anyone with this syndrome. Maybe one day, if I’m lucky. Although once I get to know people, I rarely think of their diagnosis. I find knowing facts about their diagnosis helpful in the beginning so I know how best to assist them, but once I get to know someone and their support needs that’s just who there are. They aren’t a person with CP or Downs or Autism, they are just Jennifer or Marcus or Sandra.
Happy Mother’s Day, Rose!
People who work exclusively with severe or profound are more likely to encounter it. Apparently, 1 of every 100 people with severe or profound I/DD have it. Although I have one friend in medicine and another in psychology who both encountered it.
That’s how everyone deals with him. He’s James (not his real name) with a bunch of health issues to his pediatrician, he’s James with low tone and scoliosis to his physical therapist, he’s James with ear tubes and tracheomalacia to his ENT, etc. They don’t really care what his diagnosis is.
And happy mother’s day to you! And on behalf of the moms of the people you work with, thank you for making our mom life easier :).
“Excuse me, I overheard that woman call you “Doctor”. I’ve got this pain when I raise my arm and …”
“Oh, no, I’m not that sort of doctor. I’m a doctor of philosophy.”
“What kind of disease is ‘philosophy’?”
It’s a mental illness. Thankfully it’s not terribly contagious.
Would that it were a bit more contagious among certain subsets of the population.
A few thoughts from an information tech perspective:
Google will react to requests with surprising speed. If you are aware of incorrect information returned in their searches, they will alter their ranking.
I presume the families affected by RRS have some ad-hoc network in place, including specialists who treat the syndrome. Some of these may be resident in universities, I would be surprised if this were not so, especially if there’s genetics research going on related to RRS and concomitant syndromes.
I would be quite willing to assist you and your network in any possible way if you wanted to establish a better web presence for RRS, hosting relevant and timely information.
That is so lovely of you, Blaise. I really appreciate it. I’ll take it up with the support group. The wikipedia page is actually not that bad, although it could have more detail.
There are no specialists that I know of who specialize in RRS full time (and I have looked).
I’m currently doing a fundraiser that’s earmarked for a conference we’re having. My next plan was to raise money and earmark it for web design. The U.S. group’s web site is horrible.
Anyone who deals with a problem for long enough becomes the specialist: the more obscure the problem, the faster he does. The network effect applies: your family is not alone. You are presumably in contact with several other such families. They, too, have physicians.
Here’s how I’d approach it: your network’s physicians have their own resources and backstops. Betcha when your son was diagnosed, it took a fair bit of detective work to reach that diagnosis. Go back to your physician and presumably to the hospital to find out and detail how that process worked. Work back through the test itself to find the researchers who composed it. They’ll have case history work. That case history work presumably emerged from a university. Find the researchers and get them involved.
Forget the fundraiser for now. Start compiling the information, we’ll start in on this immediately. Here’s me
I know exactly how the diagnosis process worked. They took some of his blood and did a microarray. In the meantime, they guessed. My husband and I strongly suspected it was RRS (we had plugged some of his symptoms into google and found the wikipedia page); most doctors suspected it was not that. (Unlike most with RRS, he was enormous at birth and had an average size head). When the microarray results came back, we knew exactly what it was.
A few people have done repeated studies. But most of the researchers who have worked on the syndrome also work on other genetic disorders. There is no god of RRS. Check out google scholar – a couple of studies a year.
The support group maintains a registry. If a researcher is interested in doing a study, they contact the support group, who contacts us.
THen each of us individually see geneticists. Regular pediatricians treat symptoms, and don’t need to be in contact to know about our syndrome specifically.
I’m worried that the previous comment was curt, which is not at all what Imeant. Let me reiterate: thank you. It is so so nice of you. And I would love to work on the Wikipedia definition at some point soon to make it a bit more accessible to the general public, and a bit less terrifying to new parents.
It wasn’t curt, at all. Let me know your objectives and I’ll help as I can. If the existing website is horrid, I can certainly put together something less-horrid.
I’ll talk to a few people and figure out how to broach it with the support group leadership. Right now they are up to their ears in getting ready for our upcoming national conference, but once that’s over, I think they would be very receptive.
Thanks. Again.
Another quick thought: get with the specialists and improve the Wikipedia page for RSS.
…. again, I’ve done a fair bit of work on Wikipedia, I can help there as well.