Monday, July 21, 2014

Never alone

By David M. Perry

Minutes after my son Nico was born, as he lay on the warming table, I noticed his eye was having difficulty opening. I asked Michelle, our nurse-midwife, if there was anything wrong. 

"No, his eye is fine," she replied, "but did you have any genetic testing done?" 

“No,” I said. This was true, not because of any philosophical plan, but because for various reasons we didn't know my wife Shannon was pregnant until we had moved past a lot of the test dates. The ultrasounds showed no troubles, anyway.  

Well,” she said, “he’s showing characteristics typical of Down syndrome.” 

My mind reeled, racing through images of people with Down syndrome. The word “retarded” flashed by. I immediately started imagining our life and wondered, “Does that mean we’re going to have to put him in an institution?” Later, my wife told me that her first thought on hearing the news was concern about his life expectancy. 

This was the moment, the birth of our first child, that should have been filled with elation. We had planned for it, dreamed of it, waited for it. But the words “Down syndrome” were so powerful and so negative that our minds turned instantly to institutionalization and death.

“What does that mean?” I asked Michelle. 

Michelle answered my question in the best possible way. She said that there was a big range of possibility, some risk factors, and also the strong likelihood of significant delays. I did not process this answer, not really.

“Should I tell Shannon?” I asked? Yes, Michelle said, I could.

Through classes and talking to doctors, Shannon and I both knew how things were supposed to go. After the baby is born, they clean him and wrap him and weigh him and make sure there’s no danger, then they give him to his mother. There are so many pictures and images of that perfect smiling moment: exhausted, the new parent and new person cling to each other. The baby, having taken his first breath, issues his first wail, a protest at having been extricated from the perfect home that is the womb. Nico was silent. Nico was not being placed on Shannon, and she sensed something was wrong. 

“Where is my baby?” Shannon cried. “Is he ok?” I mumbled something. “Is he ok?” she repeated. “He’s fine,” I said, “But Michelle thinks he has Down syndrome.” The words tumbled out of my mouth in a painful rush.

It was the first time that I said that my son has Down syndrome. I’ve said it so many thousands of times since, the meaning shifting as my understanding changed, from something that seemed so terrible to just a complicating fact, a fact intricately linked to the identity of my wonderful son. 

We have a picture of that moment, a moment when we first held our baby. I’m not sharing it. We do not look happy. But sometimes, I look at it, thinking back to those moments in order to see how far we’ve come.

The next few hours were not easy. We got to hold him, for what seemed like seconds, before they whisked him off to the special nursery. There was a phone call to my parents. There was a locked post on livejournal explaining our situation, to which I didn't permit comments. There were tears and anger and stages of grief. 

And then two things happened. First, I got to spend time with my son. He was covered with wires and tubes, but he was real, tangible. There was work to do. Here was a child who needed care. The presence of my son booted me from abstract to real. 

Then our community of friends and family, who had spent the hours since my late-night post learning about Down syndrome, kicked into gear. In those first bitter hours, among the more trivial of my dark thoughts was that the man we had asked to be Nico’s godfather wouldn’t want to be involved with Down syndrome. Perhaps I should let him off the hook, I thought. I felt ashamed of my son, of myself, of my thoughts. I wanted to hide. But our friends, including Nico’s godfather, were up to the task.

When they talked to me on the phone, when they came to see us, they said what you would say to any new parent: “Congratulations!” 

“Stop it,” I wanted to shout, “there’s nothing to congratulate us about! This is a tragedy. Lives are ruined.” 

But they were wiser, and stubborn, and just kept congratulating us. They came to visit laden with flowers and champagne and chocolate cake and presents. They showered us all with love. They told us our baby was beautiful and cooed over him. Together, my son and my friends carried me out of the first shock of grief. They shifted my perception so that I didn't see just a bundle of symptoms and potential problems, didn't just see a diagnosis, but instead saw my wonderful boy.  

By the end of the second day, Nicholas successfully latched onto his mother’s breast and nursed. We’d been told he probably wouldn't be able to nurse, that his jaw would be too weak, that he might need a direct tube in his stomach, or to be fed via a tube inserted down his nose, and all sorts of other things. But he nursed. And for the next four days, we’d be back in his room every three hours, providing a kind of rhythm to a life that so quickly became our normality. 

We transitioned from mourning to the joys of parenting thanks to the presence of a real boy for whom we could care and love, while being surrounded by a community that rallied around us so marvelously and so stubbornly. I’m still grateful, because those joys are immense.

But when I think back to that moment when my son was born and I heard the words “Down syndrome,” there was only grief. Fear. Ignorance. I was incapable of rational thought.  

Imagine being given that news over the phone in week 16 of a pregnancy. 

In the prenatal context, there’s no child to care for, to love, to nurture, and to see as something real. There’s no child around which the community can gather, praise, tickle, focus on. There’s just this diagnosis and a shape on an ultrasound machine. That shame we initially felt in the hospital, the desire to hide, was only countered by our friends showing up at the hospital with their powerful words and love.  

Absent powerful support structures—spouses, family, friends, faith, whatever it takes—how is someone supposed to get through that?

This is why community, correct information, and representation matter so much. It’s why we need to change the meaning of "Down syndrome" from something that's filled with fear and grief to something filled with the possibility of joy.

Sometimes people ask me what we would have done with a prenatal diagnosis of Down syndrome. I tell them that I can't answer that question. There’s no way for me to put my mind back into the state of ignorant abstraction prior to meeting Nico. Statistics suggest that I might have advocated for an abortion. Then again, we would have been alone, without community, without concrete knowledge of what life with Down syndrome is really like, good and bad. 

That's the goal of the work of so many writers, organizers, and activists—to let people know that we aren't alone, that the birth of a child with Down syndrome may come with a long list of worries, but also deserves congratulations, and can lead to a laughing boy sliding down a waterslide into the waiting arms of his sister (or whatever your life may bring). 

There are no guarantees in life, no matter how many chromosomes you have. We'll have many more obstacles to face. Some will make us weep, surely. And yet, we won't be alone. 

David M. Perry is a professor of history at Dominican University who writes about disability and related topics on his blog How Did We Get Into This Mess? His essays have appeared on CNN, The Atlantic, and The Nation. Follow him on Twitter @Lollardfish.

Monday, July 14, 2014


Here are Ben and D'Arcy on Lake Ontario at Cherry Beach.

But there was another boat Ben was more interested in.

Wednesday, July 9, 2014

Watching the shadows

By Louise Kinross

I found something that my son and I love to do.

It involves going for a leisurely walk up to our local shops. We stop at a number of benches along the way to rest and watch the people go by.

In the past my son wouldn't do this walk because of pain in his legs and the trip is still a major exertion for him.

But on the weekend I convinced him to do it twice on days with a cool breeze, and we spent a couple of hours out every time.

He likes a gem shop and asks me to say the names of each of the stones on display. Quartz is his favourite and this last time he bought a small clear globe which the cashier put in a tiny brown bag.

Then we went to the book shop, where he can easily spend an hour moving his favourite chair progressively down one aisle as he peruses the books. He loves the Tintin series so we bought The Shooting Star for his camping trip.

We frequent this store regularly and know the staff so I feel comfortable that they understand and tolerate his differences, including some of the sounds he makes as a non-speaker. I can leave him to look for my own books.

After a very long session we decided to leave. I told him I was putting a magazine back at the front of the store and left him sitting at the back. When I came back he was gone.

My first feeling was happiness: he must have gone out the back door himself! In the past he wouldn't have had the strength to push open this door and he wouldn't have even tried. He would have waited for me. 

Then, mild panic.

I darted out and saw him sitting on a bench tapping a man's arm and gesturing that he wanted to show him what he had in his brown paper bag.

"Ben!" I called. "What are you doing?"

I sat down beside him and said: "Do you want to show this man what you bought?"

He nodded yes, opened the bag and unwrapped the tissue paper to reveal the small clear globe. The man, who was a bit odd himself, smiled.

I was happy that he wanted to connect with someone but afraid of his vulnerability. I later mentioned that you had to be careful who you sat with or approached because some people were bad.

I couldn't imagine him ever being able to do the walk on his own, but, nevertheless, I pointed out all of the street names to him and he certainly knows the route.

He was delighted when the sun came out and he could watch his shadow walking beside him.

At first I couldn't understand what he was gesturing to on the ground. Both of our shadows were right there, clear as day, but I couldn't "see" them. I guess shadows no longer register with me as natural wonders worthy of observation and enjoyment. After much enthusiastic pointing, I finally got it.

"Oh, the shadows! Your shadow. Yes, there it is. Very cool." I took the time to really look at how his shadow followed him.

We stopped to sit on a bench on the way home. There was a pleasant wind to cool us and nothing to do but watch the endless stream of people go by. It seemed like we could sit there, he and I, forever.

Thursday, July 3, 2014

When language fails

By Louise Kinross

I was trying to explain to my therapist how having a child who didn't speak had let me off the hook in terms of answering tough questions about his disability.

I was expressing concern about my son's future as an adult, but feeling stuck in terms of how to discuss it with him.

While I had talked a lot about how his disability affected him when he was little, I hadn't in recent years spelled out clearly that he wouldn't be able to drive, or live alone, or do some of the things he'd identified as dreams in his Life Plan day a couple of years ago.

When he was little we talked regularly about his Langer-Giedion Syndrome, but we hadn't done so recently.

In fact, when I thought about it, I didn't clearly identify him as having disabilities in everyday conversation. I hadn't talked openly about disability and asked him how it made him feel.

I had taken advantage of the fact that he couldn't pester me with questions like a speaking child. A part of me felt that he saw himself as different, but not disabled, and I didn't want to hurt his self-esteem. I knew I was supposed to be nurturing a self-advocate, but our communication barrier, and the sadness in my heart, got in the way.

When he was little, we talked about disability in terms of how it affected him functionally: he didn't grow like other kids/"good things come in small packages;" he needed hearing aids to hear; he knew what he wanted to say, but his muscles wouldn't listen to him; he needed physio to help him learn how to walk; other people speak, but he would talk with his hands or a machine; he grew bumpy pieces of bone on different parts of his body but they weren't usually a problem. And if they were, they could be removed.

I'd always had an explanation for his random genetic condition ready, but I'd never used it (in fact, when I think about it, I've only ever shared it with one of my daughters, when she asked for a more sophisticated answer).

The plan was to explain that everyone has genes that are like letters of the alphabet. The letters are put together in words and sentences that give your body instructions on how to take care of itself. But in my son's case, he was missing two genes, or letters. He had a deletion on the long arm of Chromosome 8. This meant that some of the instructions to the body got jumbled. There wasn't any reason that he had this condition and the rest of us didn't. It was a random error (I'd have to work on the language there). Just something that happened at conception. It wasn't fair. It wasn't just.

I was trotting out this explanation dispassionately with my therapist when I surprised myself by breaking down. "I don't want to tell him that he's missing something," I said, sobbing at the word 'missing.' "I don't want to tell him that everyone else has these letters and he doesn't."

What followed was a discussion about how it was important that I talk more openly about his disabilities and how they would shape his life options.

"He knows he has a disability," she said, "but it can provide a great deal of relief when someone's condition is explained in detail to them." 

And then, she said, I would be able to list all of the amazing qualities that make up my son, the things that seem bigger to us than what is missing.

So I told my son last night that before he went on the iPad we were having a talk. I got out a piece of paper and wrote Langer-Giedion Syndrome on it.

Do you know what that is, I asked?

Yes, he nodded.

It's the genetic condition you have. 

I jotted down a few of the symptoms: hard of hearing, bumpy bones, you don't speak, your muscles are weak. I ran my hand over a large bony growth that had appeared on his leg in the last year. Your bones are bumpy, but usually they don't cause a problem, I said. And if they do they can be surgically removed.

He gasped and pretended to hyperventilate, his way of telling me that he hates hospitals and operations.

We went through the other symptoms.

Your body has lots of genes, I said. Genes are like letters, the ABCs. When you put them together they spell words that tell your body how to take care of itself.

Two of your genes aren't working properly (in the moment I managed to avoid the 'missing' word). So sometimes your body doesn't get the right messages and it causes problems.

How does it make you feel that you have disabilities?

He looked at me but didn't respond. My son's attention for this topic had reached its limit.

It must be very frustrating, I said. And it probably makes you feel mad sometimes. And sad.

To my great surprise, my son started laughing. He'd just been watching a Jackie Chan Adventures cartoon with his brother, and I can only imagine that his mind had moved on from our serious and dry genetic discussion to the lighter fare of the silly cartoon caper.

I began to write out the list of my son's amazing qualities: Funny. Kind. Caring. Curious. Sensitive. A good friend. Smart. Gentle. Courageous.

I read them out loud.

So even though you have Langer-Giedion Syndrome, you have all of these other things, I said.

It's a small start, I told myself. But an important one. Next on the agenda: a talk about the future.

Friday, June 27, 2014

Bon voyage

Hello dear readers:

I will be on holiday until August 1. We are taking a "staycation," but hope to rent or purchase some kayaks so we can at least get some time on the water locally.

I may post a couple of updates during our break.

In the meantime, let us know what you have planned for the summer. Have fun! Louise

Wednesday, June 25, 2014

Does disability make you a less worthy transplant recipient?

Two little girls with genetic conditions that include intellectual disability needed a life-saving organ transplant.

One, in Philadelphia, needed a kidney. The other, in Chicago, needed a heart.

The first, three-year-old Amelia Rivera with Wolf-Hirschhorn Syndrome, was turned down for a kidney transplant in 2012 because of her ‘mental retardation,’ according to her parents. “She is not eligible because of her quality of life—because of her mental delays” the parents said a nephrology doctor told them.

Special-needs parents lit up the blogosphere in protest and over 50,000 people signed a petition at asking the Children’s Hospital of Philadelphia (CHOP) to reconsider its decision. All the major media networks ran news stories on the case and CHOP reversed its decision. Last year Amelia received a kidney transplant from her mother and is thriving.

The second girl, a baby dubbed “Annie Golden Heart” on a Facebook page
run by her parents, had Down syndrome. She was in heart failure, but was ineligible for a new heart because of her disability. Last week, she died at age two. Despite her Facebook page, Annie's story didn't garner the media clout to influence hospital policy like Amelia's had. I wonder how her parents explained her death to her two older sisters?

This petition questions why children with Down syndrome are not considered candidates for organ transplants. It has almost 40,000 signatures, but it hasn’t caught the imagination of the media.

Last year CNN reported
on a five-month-old baby with a heart defect who was okayed for a heart transplant, only to have this decision reversed two days later when it was discovered that the child had a genetic condition. The doctors said his genetic condition compromised his immune system, making him a poor candidate for transplant, and told the parents to take him home and love him till he died. His mother went online and researched the syndrome, reading studies and contacting the expert her son's syndrome is named after. The study authors and the expert said that the condition is not associated with immune problems and is not a reason to deny the child a transplant.

The syndrome is, however, associated with intellectual disability and there’s a long history of categorically excluding people with intellectual disability from eligibility for transplants; they’re not seen as worthy of these scarce resources.

The Autistic Self Advocacy Network has published an excellent toolkit
on transplant discrimination based on disability.

In its Guide for Clinicians 
the authors note that “the most common barrier is the misconception that people with disabilities—especially those with intellectual, developmental, or psychiatric disabilities—are unable to comply with post-operative treatment regimens and that, as a result, people with disabilities have a lower likelihood of transplant success. In addi­tion, providers may incorrectly assume that people with disabilities have a lower quality of life than people with­out disabilities and therefore would not benefit as much from life-saving transplants…”.

The guide includes recent studies that show that with adequate post-surgery care, people with intellectual disabilities have survival rates for kidney and heart transplants that are comparable with those in the general population.

The guide includes case studies, like the one of a 9-year-old boy with autism who needed a heart transplant. Two transplant centres refused to even evaluate the boy, who types to communicate, based on his disability.

In its toolkit on transplant discrimination, the Autistic Self Advocacy Network says that “as early as 1992, the U.S. Department of Health and Human Services took the position that deeming people with disabilities to have a lower ‘quality of life,’ and refusing health care on that basis, would violate the Americans with Disabilities Act.”

It goes on to say that “Clinicians’ estimates may, as a result of their own ‘horror of handicap,’ dramatically undervalue the actual quality of life of disabled patients. In reality, people with significant developmental and intellectual disability—including those who need assistance with basic tasks, those with co-occurring physical disabilities, and those who do not communicate using language—may lead long, rich, and fulfilling lives in their communi­ties. Moreover, patients with disabilities who received or­gan transplants may experience marked improvements in quality of life.”

Ironically, two days before “Annie Golden Heart” died last week, a state lawmaker from Philadelphia introduced legislation 
to end discrimination against people with disabilities in need of organ transplants. The bill, spurred by the fight of Karen Corby, whose 24-year-old son Paul, with autism, needs a heart transplant but isn’t eligible, is called Paul’s Law. “...To find out that he is not a candidate for a heart transplant—which is the only cure—because he's autistic, is the most terrifying thing a parent can go through," Karen Corby said.

Last year, Dr. Art Caplan, a bioethicist writing for MSNBC online summed up the situation beautifully:
“Children with intellectual disabilities do not appear on transplant waiting lists with the frequency that should be expected…There are reasons why anyone with an intellectual or physical disability might not be considered a good candidate for a transplant. But those reasons, to be ethical, have to be linked to the chance of making the transplant succeed. Otherwise they are not reasons, they are only biases.”

Tuesday, June 24, 2014

The wave

Remember that quote: "Enjoy the little things, for one day you may look back and realize they were the big things?"

Well, here's one of my little things.

Last night we were at Variety Village, the sports club adapted for people with and without disabilities.

Ben was riding a bike around the track at a very leisurely, almost snail-like pace while my hubby (and I, very briefly) ran.

I was thrilled when I saw an old school friend of Ben's coming towards us on the inner lane, walking. We were going in opposite directions as lanes on the track are designated for different activities.

He's a young man with autism who uses sign language to communicate. He had head phones on and was snapping his fingers to the music.

We met him a couple of weeks ago, having not seen him for about four years.

Sometimes Ben doesn't respond to greetings, particularly if he's doing something like walking or riding that requires him to concentrate on his coordination.

As the young man came nearer, he waved to Ben, and gave him the thumbs up. I was a several feet behind Ben, and I saw him balance his left wrist on the handlebar and very intentionally wave back.

"Did you see that?" I said, turning and gesturing to my husband. We smiled and I jumped up and down, like we'd just experienced a tremendous bit of luck.

What's a little thing in your life (or perhaps in the eyes of other people) that in fact is a really big thing?