Hugging Doctor Yes

For his many flaws, Doctor Normal has some serious legs. Since writing “Breaking Up with Doctor Normal,” I’ve gotten a lot of comments from readers who tell similar stories. There’s a collective sighing and nodding among us all, and though I’m sad these stories exist, I’m honored to be a witness to them, most of which are from strangers.

The most exciting letter I got, though, was from another doctor, one who trains physicians in university settings. She says she’ll be sending the post to every doctor she knows. I hadn’t believed my family’s small story would be of any use to a room of white-coated professionals. Her note got me thinking: if we’re going to talk back to doctors about what not to do, we might as well also talk about what to do. If we’re going to highlight a pervasive and shitty paradigm in the medical community, might as well also highlight those doctors who, for whatever reason, embrace an entirely different paradigm than Doctor Normal.

Thus I present to you the awesomeness of Doctor Yes. Or, in our case, two Doctor Yesses.

Doctor Yes is called Doctor Yes for many reasons. Sure, she says yes to the patient as part of her caseload. She even says yes to the patient’s potential (although when this comes out of the mouth of Doctor Normal, it will be an icky attempt to “make the patient normal.”) But more than these, Doctor Yes says yes to the humanity of the patient as he or she is. And in so doing, she says yes to the diversity of the larger human picture.

She says no to the idea of the patient as broken.

(As a side note, Dr. Hirschhorn, whose name is forever tacked beside my daughter because he’s one of two physicians who founded her syndrome, once gave a talk at the national conference for people with Wolf-Hirschhorn. He called them “broken.” He has not invited back.)

I’ve written a little about our first Doctor Yes before, here. The longer I parent Fiona, the clearer it has become that my encounter with this Doctor Yes was life-altering. He was my introduction to genetics, to Fiona’s syndrome, but more importantly, to the power that language has over one’s way of seeing.

I was three months new to the role of parenthood. I had a diagnosis—something about the short arm of chromosome four—and a few bullet points from the pediatrician. But I hadn’t internalized what any of this meant for Fiona, who was still onyx-eyed and mysterious to me and waking every few hours in the night.

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So I walked into Doctor Yess’s office baffled, sleep-deprived, and scared. Doctor Yes whipped out a picture of chromosomes, all of them looking like broken, black ramen noodles, each one set beside its pair. He pointed to the pair of fourth chromosomes and said Fiona had “a genetic deletion.” Not a genetic defect. Not a genetic disorder. A genetic deletion. Notice the neutrality of the word. It was descriptive. I’ve accidentally deleted important files, and I’ve intentionally deleted whole paragraphs of writing that have sucked. Deletion is just a noun, meaning removal, the leaving out of.  Deletion is without blame. Deletion simply is.

Doctor Yes explained that deletions can occur on any chromosome. But we know about her genetic deletion, so we can anticipate how to help her. And that’s good for Fiona.

Notice the end of the sentence. Good for Fiona. It reverberated in my head through the rest of the meeting. It made me want to sing for my girl. Congratulations, kid, on getting a syndrome with a club card. But the phrase also took on larger meaning. Good for Fiona. Good for Fiona. She was not doomed. She was not cursed. She was maybe even blessed.

Most parents of kids with this syndrome have reported devastating encounters with their child’s first geneticist. The tone is all doom and gloom, an emphasis on the negative and on what the doc believes the child will never do. Never walk or talk, they are told. Vegetable, no personality, they hear. Most likely won’t live past the age of two, they sometimes learn.

While it’s true that many people with WHS do not speak or get around on two legs, and while it’s also true that the effects of WHS can threaten a child’s life from very early on, it’s categorically false to say they have “no personality.” Further, at these first diagnosis meetings, new parents are treated to the equivalent of a pre-funeral, delivered news that their child is nothing but a bundle of suffering and grief.

But it doesn’t have to be this way. In a windowless room in Cincinnati, Doctor Yes was frank: we faced a high risk of seizures and other neurological difficulties. We faced heart anomalies and other possible health complications. Most people with Wolf-Hirschhorn had “intellectual disabilities.” (Note, not mental retardation, that crude phrase that we kids of the 80’s turned nasty on the playground. This meeting with Doctor Yes was in 2011, two years before the American Psychiatric Association and the Federal Register both voted to abandon “mental retardation.” Doctor Yes was a few inches ahead of his time.)

But, he said, and this next part is key, because I nodded furiously to these sentences and I have carried them with me ever since, We’re not going to put limits on Fiona. We’re going to help her be the best she can be.

It sounds so cliché. So Army recruitment, even. And yet it was all I needed to hear. Doctor Yes didn’t use the diagnosis to shut my daughter’s life down. He used it to help us understand the possibilities ahead of her. He used it as a jumping off point to help us help her thrive.

His name is Anthony Broering. He’s now a pediatrician here in Greensburg, PA and has maintained a special interest in treating children with rare syndromes.

I met the second Doctor, Amy Calhoun, at the national conference for people with 4p- (four P minus), where she was working with genetic counselors to collect swab samples, Fiona’s included. I’ve written about her here, but to recap, this second Doctor Yes explained to me how genetic deletions like Fiona’s occur—I learned that meiosis, the cell division process in reproduction, is essentially the world’s sloppiest square dance. I learned about nature’s reasoning for this sloppiness—meiosis ensures that every single one of us is totally different. In other words, meiosis is the anti-normal.

But what I didn’t write about in that earlier post was Doctor Yes’s answer to one of my off-hand questions. Why was she, a pediatric doctor from Utah, out here in Indiana, at a conference for an obscure condition? Why was she so interested in Wolf Hirschhorn Syndrome?

“Because of the kids,” she said. And before you think she was having a Whitney Houston I Believe the Children Are Our Future moment, let me paraphrase the rest of her answer. Upon first meeting some people with WHS, Doctor Yes said she got hooked by them. Their sociability and magnetism drew her in. I was expecting some kind of because the short arm of the fourth chromosome contains the genetic receptors of the doo-dads and the hoo-hahs of the cellular regenerating something-somethings. But no. Doctor Yes fell a little in love, and not with anything in test tubes, but with people.

It was the first time anyone in the medical world had suggested to me that their was an upside to the syndrome. Even Fiona’s pediatrician at the time had looked at me with a kind-of pitiful, What a bad lot you’ve drawn face. But Doctor Yes’s face lit up when she described the uniquely shared social qualities of people with WHS. And yes, it was true. Even within Fiona’s first year of life, friends found her eye-contact impressive and uncanny. Like she’s looking into my soul, they said. In grocery stores, on subways, her sapphire eyes regularly sought out the attention of every single person around us. I’m not saying that every child with Wolf-Hirschhorn Syndrome is exactly like this, but many who know them have noted their sociable tendencies.

This way of viewing Fiona is so rare within the medical community that I was arrested again (in the best possible way) when I heard this webinar on WHS, which Doctor Yes took part in. The webinar explains that most medical research on WHS is grim and accompanied by grainy, clinical, black and white photos. “What you won’t read about,” says the voice of the genetics counselor on the webinar, “are all of these personality traits and colorful habits.” The corresponding slide reveals children dancing, smiling, making keen eye contact with the camera, just as Fiona loves to do.

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Beside the images is a list of attributes often shared by people with WHS:

  • Love dancing and music
  • Seek attention and are aware of their surroundings.
  • Idolize their siblings, sit with their legs crossed, have curly hair and infectious smiles.

Here’s something that always fascinates me about genetics. Folks with this syndrome share an absence of something. They are missing varying amounts of genetic material on the cotton-ball-top of the fourth chromosome. And yet, and yet, in many cases they collectively share a presence of something: incredible interest in music and dance, infectious sociability, attention-seeking on par with your biggest flirt. (The latter trait recently had several of us mothers of WHS kids sharing hilarious stories.)

This is something Doctor Normal does not get, something Doctor Yes sees: how absence can equal presence. How disability can also be ability. Where Doctor Normal sees “broken,” Doctor Yes sees a redefining of how to be “whole.”

Do you have any stories of a Doctor Yes? Future Doctor Yesses might be listening.

Fi and beads

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8 thoughts on “Hugging Doctor Yes

  1. I love what you say about all the positive qualities associated with WHS. It kind of reminds me of Kristine Barnett’s take on autism in her book THE SPARK. After struggling through years of dispiriting therapy for her son, she asks, “Why is it all about what these kids can’t do? Why isn’t anyone looking more closely at what they can do?” Every difference from “normal,” I would think, comes with an upside as well as a downside. And why NOT focus on the first instead of the second?

  2. Thank you so much. Our granddaughter, Morgan, also has a rare genetic syndrome that was diagnosed at Cincinnati Children’s. Her team of doctors only get to remain on the team if they are in the Yes club…I’m forwarding this to my daughter, and am grateful that you “get it”, and also have the gift of sharing it.

  3. Thank you so much for writing this! From birth with our little Caylah, I kept saying how there was so much light in her. Like when she looked at me, I was calmed as if she was telling me, “Mommy, I am ok.” When we first were told about her diagnosis it was doom and gloom for sure. But, I felt her telling me, no it isn’t mommy. She has been my guide through all of this. There is definitely a presence with her. And her smile is infectious. We are just about an hour north of you in Cranberry Twp. We plan on attending the conference this year and we can not wait! Thank you so much for putting into words what we all WHS brothers and sisters feel in our hearts!

  4. Spot on again!! We have our Dr. Yes, actually we have two of them. It’s the doctors that shares the same joy you do as a parent, when your kid hits a milestone. You know the ones Dr. Normal doubted would ever happen. Great read, Heather!!

  5. To extrapolate a bit from your discussion of doctors to the idea of parenting, teaching, really any interaction with children, there seems to be a thought of kids as unfinished projects, creative endeavors even, as if we can craft their personalities, their development, their futures, their interests even. Instead of viewing a child as a person, to get to know well over time, to fall in love with, these Dr. Normals see the raising of a child as a task list of milestones, accomplishments, and experiences to successfully achieve. And when our kids aren’t hitting these milestones or accomplishing what others are, the project is a disappointment. I think that’s what these Dr. Normals are revealing about their understanding of children. They don’t see a person but an unfinished project, and if the project cannot be successfully completed, then what a pity. I love a Dr. Yes (including the one I too have met) who really sees them as people first and then out of genuine interest in their personhood wants to work toward maximizing their potential. But not using potential to determine worth.

  6. It is so important to find Dr. Yes. And, it is even more amazing how being under the care of Dr. Normal and hearing about Dr. Yes, is such a burden emotionally. This burden I find to be more exhausting than anything other challenge facing a parent of a young child in a situation like yours. The benefits of counsel from Dr. Yes are so clear in this post.

    We have not found the genetic cause in our case, and probably never will – it may not even exist! Or, it may be many years away from being understood. Carrying the theme of this post, which is wonderful by the way, is a letter my wife wrote to one of our many special doctors. I blog about our journey too, and would like to share with you recent post where I included her text. It is touching, and speaks to your feelings about finding Dr. Yes. Here is the shortlink: http://wp.me/p3eT9f-bRU9B

    Thanks so much for what you do here.

    -new follower

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