What is 'progress' in prenatal testing?

By Louise Kinross

Yesterday I was contacted by a researcher at Duke University who wanted to interview me about a new blood test that can detect micro-deletions like my son’s genetic condition—Langer-Giedion Syndrome—as early as 10 weeks into a pregnancy.

I’ve written about the issues I have with prenatal testing: that it’s increasingly viewed as a standard of medical care and social responsibility, rather than a woman’s choice, and that when a prenatal diagnosis is made, a clinical description isn't balanced with information from families raising children with the condition or affected adults.

In addition, information is often presented in a value-laden way. For example, I’ve been on the receiving end of obstetricians and genetics counsellors who talk about “perfect” babies and “abnormal” babies, and about a “burden you’ll live with for the rest of your life” during what is supposed to be neutral counselling.

It's also quite possible that the clinician a parent speaks with during genetics counselling has zero life experience with disability—kind of like talking to a car salesman about a car he's never driven. Instead, it’s more likely that the clinician views genetic disability as a preventable, costly medical error.

The Duke researcher sent me a link to Sequenom Laboratories’ press release.

It reports that the company will be able to identify three new micro-deletions—including Langer-Giedion Syndrome—as part of its Materni21 PLUS test. Although this blood test already detects a handful of micro-deletions, it’s named for its ability to detect Trisomy 21, or Down syndrome.

There’s a quote from the head of maternal-fetal medicine at Cleveland Clinic saying the test “has helped change how we treat our prenatal patients.” However, there isn’t any explanation as to what this change is. The doctor does say he can now provide patients with results as early as 10 weeks into the pregnancy.

Does counselling for a genetic disability at 10 weeks into a pregnancy differ in any way from that at 16 weeks? If so, what are those differences?

As the testing for micro-deletions is expanded, how is the clinician’s real-life understanding of these conditions enlarged to ensure prospective parents get balanced and rich information?

What are clinicians doing to reach out to families affected by micro-deletions so they can provide more than a clinical description and perhaps even a referral to a support group?

Like other deletions, Langer-Giedion Syndrome affects people differently. The MaterniT21 PLUS will not give prospective parents any insight into whether their child will be mildly, or more severely, affected. My son will not go to university, but some with the disorder do. Prospective parents will have a diagnosis, but no clear sense of impact. Quite the emotional quandary, I would imagine, and not the precise, scientific "genetic analysis solution" that the company refers to.

To me, the technical side of prenatal testing is the easy part. The information and counselling that comes after a diagnosis is the messy part, the part that needs critical scientific attention and study and evaluation.

Sequenom says that it’s “committed to improving healthcare” but it doesn’t mention anything about how the results of its test are used, or how test results translate into counselling that prospective parents find useful, supportive and neutral.

Oddly, Sequenom’s news release doesn’t mention a thing about termination, yet I imagine most positive Materni21 test results lead to termination. Why is this not openly discussed in its promotional materials?

Again, I think it's easier to talk about “laboratory-developed”  tests and “revolutionary genomic and genetic analysis solutions” rather than the real-life decisions of a woman who may know little about disability or be ambivalent about using termination as a prevention measure.

Note that on July 29 Sequenom reported revenues of $39.8 million for the second quarter of 2014, an increase of 62 per cent over the same period last year.

There’s lots of money to be made in increasing the number of women who take the Materni21 PLUS.

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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.

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'In each other's eyes, we are enough'

'In each other's eyes, we are enough'
By Louise Kinross

“Monkey man. Monkey man.”

A two-year-old stood over my son in the sandbox, pointed at his face, and chanted the words like a mantra. It took me a second to make the connection. Then blood rushed to my head, it hurt to breathe and my eyes stung with rage and shame. My son’s ears did stick out like a monkey’s. But I wasn’t in the mood for educating.

“Time to go home Ben,” I said, scooping him up in my arms. I limped back to the safety of our house, where I didn't have to fear the judgment of others.

It was a few months later that I got out the baby album. I wanted to send photos to a family in San Diego whose child had the same rare genetic syndrome as my son. When Ben was diagnosed, there were only 60 reported cases of Langer Giedion Syndrome in the world. Children with the syndrome are born missing two genes on the long arm of chromosome eight, resulting in unusual craniofacial features and a host of bone, growth and learning problems.

I hadn't looked at these photos in two years. And I was in for a surprise. At first, I couldn't believe my eyes. The pictures were not the way I remembered them. How could that be? This was my son Ben’s album, but the baby in the photos didn't look like my flesh and blood son.

Now a toddler, my son had big, bright, piercing eyes that could drill a hole of tenderness in your heart. My son had a dimpled, ear-to-ear grin, pudgy cheeks and an adorably large head that made him look like a little Buddha. My son had fair skin and extravagantly long eyelashes.

The baby in the photos looked odd: ears that stood out and didn't line up, an unusually broad forehead and wide nasal bridge, and thin lips that gave a blank look to his face. His eyes slanted down a smidgen, the tip of his nose was flat and there was a smooth faint line where there should have been a vertical groove above his upper lip. His head was too big and his features seemed out of proportion.

My gut turned.

It was like looking at one of those trick pictures. The first time you see a profile of an elegant young woman looking off in the distance, and that's all you see. But then someone explains how to look differently at the picture: what if the young woman's ear is really an eye? Suddenly, the face of an old woman with a large beak of a nose and a pointy chin pops out. Where did she come from? And then your eyes will not allow you to see the young woman again.

A switch had flipped in my brain, and no matter how many times I squinted or closed and opened my eyes, I could only see the odd features and asymmetry of my boy's face. I couldn't see the baby that I held in my mind's eye. I couldn't see my flesh and blood Ben.

Three years before, I was pregnant with my first child. Like most parents, I could only envision our creation as perfect: conceived of our love and possessing an original mix of our DNA, this child was new, untouched, more part of the unknown, spirit world he came from than ours. Knowing he was a boy, we had already named him Ben Keegan – Keegan meaning 'little fiery one.' Fittingly, he woke me with kicks at about 4 a.m. each morning. I would walk to the window, look up at the blinking stars and wonder who he was and where he came from. The stars represented the mystery and majesty of my son and my longing for him.

"Ben is here," my husband D'Arcy exclaimed the night he arrived. I tried to focus on the little body with a tuft of dark hair at my feet, but he was quickly whooshed away. I lay back, wet with sweat, spent and spilling over with joy. D'Arcy kissed me. "Is he all right?" I called out. "D'Arcy, go see Ben!"

The midwife returned and put her hand on my arm: "He has some unusual features," she said. The words floated by me like distant clouds. My euphoria was complete.

When he was finally passed to me, wrapped up in a blanket with a little white stocking on his head, he did look different. I was concerned, but I wasn't panicked. I didn't know how to interpret his appearance. "Isn't that the way all newborns look?" D'Arcy asked.

The pediatrician arrived, unswaddled Ben, and looked at him disapprovingly. "He has anti-mongoloid eyes, low-set ears and a bit of a hare lip," he said. I hadn't noticed anything unusual about Ben's eyes. I had always loved the metaphor of the eyes being windows to the soul. I knew that mongoloid was an archaic term for Down syndrome. What on earth did 'anti-mongoloid eyes’ mean?

"In Down syndrome, the eyes slant up," he said. "Your son's eyes slant down."

Ben – the sacred being that had grown in my body like a new limb – lay naked under the stark, fluorescent light. The doctor inspected him, piece by piece. "The timing wasn't right," he muttered, shaking his head. My jubilation, a brilliant, burning fire, was now flickering in the wind of a competing grief. How could my son's birth be wrong?

The doctor said Ben's symptoms looked like a chromosome problem.

We took him home in a haze of shock. "Couldn't we still be a happy family?" I asked my husband on day three. On day four we saw a geneticist. Based on his 'abnormal' features, she suspected Ben had Langer Giedion Syndrome.

But outside the clinical setting, a different picture was taking shape: my boy was growing beautiful before my very eyes. I wrote in my diary:

2 weeks and a day


You have very delicate features – beautiful blue eyes, well-defined and delicate eyebrows, a round face with plump cheeks and tiny little lips.


3 months


You are becoming more beautiful every day. Your eyes are drop-dead gorgeous – big, blue, long, long lashes. You have an all-out, ear-to-ear grin with dimples.


6 months


It seems like a miracle that you are here. I like to sit and wonder at you – where you came from, how you came to us, how you are so perfectly formed.

How was it possible that I could view Ben as "perfectly formed" when medical experts described his face as "a complex picture with multiple congenital anomalies?"

When I was immersed in the everyday tasks of loving and caring for Ben, he was so much more than his unusual features: he was a cuddly ball of heart, giggles, interests and charms, whose chest rose and fell at precisely twice the rate of mine.

In my eyes, he was physically beautiful. And it wasn't just a spiritual thing. Perhaps my eyes balanced out what was odd. Perhaps it was a matter of emphasis: in the same way that our brains can organize that trick picture to reveal an old woman or a young woman, I organized Ben's face in a way that made his features beautiful to me. Or perhaps it was simply a choice. I chose to see beauty.

I expected others to delight in my boy like I did. When they didn't, a black hole of grief opened up inside me.

A friend responded to Ben's photo by describing him as impaired. “I don’t think people are repulsed by Ben,” she added. Repulsed? I looked at the photo I had sent. To me he was irresistible.

Specialists who were consulted on other parts of Ben’s body couldn't resist documenting that he had "dysmorphic” facial features. I remember the first time I raced to the dictionary to look the word up, heart thumping at this new and horrible name that had been ascribed to my son. Dysmorphic: adj. "Malformed, misshapen or underdeveloped." One surgeon entered a clinic room and, without introduction, demanded angrily: “What is WRONG with his head?”

In my eyes his differences dissolved because I saw his face and being as a whole. But to other people, the features superseded the boy. In their eyes he was – at the core – different, an oddity, something less than human.

As I paged through Ben's baby pictures that night, I saw him through their eyes. For the first time, I saw the boy with the syndrome, the boy whose every feature had been scrutinized and found lacking. My eyes couldn’t correct the face in the photos – creating symmetry and proportion where it was lacking – like they did in real life.

It's been many years since then. Now, as a teenager, Ben has more disabilities than we ever imagined he would, and the one plastic surgery we chose to put him through, to try to reconstruct his ears, didn't work. Whenever I find myself weighed down by his medical picture – which is just one view and which inevitably focuses on what he isn’t – I know how to find my way back to a more true assessment.

I look into his large, deep-set eyes, which have, since babyhood, turned hazel. I can see my face reflected in the star-like light at the centre: he is part of me, and I am part of him. He has eyes you can fall into, and which are capable of communicating anything. In his eyes, I don't see the things that are wrong. I see Ben – which in its Hebrew form means ‘son.’ Is it possible that his wholeness derives from the simple fact that he is my son? He is mine. When I look into his eyes, I see a beauty and goodness that transcend appearance. His eyes mirror back my joy and acceptance. In each other’s eyes, we are complete. In each other’s eyes, we are enough.

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