Mama and Dad

But is it complete?

What kind of counselling is offered today to the parents of a fetus that is diagnosed with a micro-deletion or micro-duplication? Even less is known about some of these conditions because they're just being named.

Is a medical description of the condition paired with information from families raising children with the same disorder? Or affected adults? 

In my son's condition, there's huge variation in how children are affected and microarray can't predict whether the symptoms will be mild or severe. And what about the human side of the equation, the joy that a child, regardless of ability, brings to a family. That can't be conveyed by a professional who has no firsthand experience with disability, and may well view disability as a medical failure.

"Women often terminate a pregnancy without knowing what life would be like with and for an anomalous child," writes Far From The Tree author Andrew Solomon in this New Yorker piece. "It is worth publicizing the satisfaction that the experience may entail, so that the pro-choice movement becomes the pro-informed-choice movement."

Parents-to-be often "confuse how it feels to lose an ability (to be suddenly bereft of hearing) with how it feels to live healthily with a variant body (to be deaf all your life)," he writes. "Further, they confuse their own discomfort with their child’s."

The thesaurus might equate “disabled” with synonyms like “useless” and “mutilated,” but ground-breaking runner Aimee Mullins is out to redefine the word.

There's no such thing as the perfect child is an essay in the Globe and Mail by Edmonton writer Sue Robins, a mother we feature as a trailblazer in the upcoming issue of BLOOM. Here, Sue talks about troubling parent attitudes toward her son with Down syndrome and about one particular mom who asks why she didn't have prenatal genetic testing.

Bioethicist Arthur Caplan of the University of Pennsylvania raises important questions about a recent study that shows a significant decline in the birth of children with genetic conditions in the U.S.

Use of the word “retard” is so pervasive it's said in the White House and even in our house. I remember when I first heard my pre-pubescent daughters and their friends—good, caring kids all—peppering their sentences with reference to how “retarded” certain people or things were. “Don't be a ‘tard,” rolled off one of their tongues and I felt like I'd been sucker-punched. “In the olden days, that's a word that was used to describe people like your brother Ben,” I said, eyes wide and wild. “It's demeaning and we don't use it.”

“I don't mean it that way,” my daughter said. “Stop freaking out, Mom!”

I'm sure White House Chief of Staff Rahm Emanuel had a similar reaction when he got in hot water in January for calling liberal activists “f**cking retards.”

“I don't care if you don't mean it,” I’d tell him, as I told my daughter. “You know the origins of the word and how it's been used to discriminate against people like my 15-year-old son (above).”

Of all disabilities, mental retardation is most loaded with stigma—a badge that singles one out as subhuman, worthless, and elicits a shocking degree of hate and fear, even within the disability community.

As a parent of a child with mental retardation, I don’t mind the clinical use of the term. In fact, I bristle at the thought that my son’s medical condition is so shameful it can’t be named.

The colloquial use of the word “retard,” however, has got to go; it’s evolved, since the inception of the clinical term 50 years ago, into a hateful taunt against one of the most marginalized groups in society.

Why is the stigma so entrenched? Prejudice against people with low intelligence has a long, little-known history that gained momentum in the first half of the 20th century and included a state-sanctioned killing program in Nazi Germany. Social Darwinism and eugenics played into a ranking of human worth—based on intelligence, economic contribution and behaviour—in which people with intellectual disabilities were deemed genetically inferior and thus less human.

The result? Between 1939 and 1943, 6,000 German children with physical and intellectual disabilities were killed through starvation, exposure to cold, poisoning and lethal injection. Over 70,000 adults with disabilities—including mental retardation—were gassed to death during early WWII in six killing centres set up for the purpose.

To those who say that’s ancient history, let’s look at some of the more recent hate violence against people with intellectual disabilities. Last week, an Italian Facebook group with 1,700 followers proposed that children with Down syndrome be used for shooting-target practice.

U.S. officials are investigating whether the horrific torture and death last week of Pennsylvania-resident Jennifer Daugherty—a 30-year-old with a mental capacity of 12 years—qualifies as a hate crime.

And a New York Times Motherlode blog in January titled “Should Down Syndrome be cured?” produced a slew of reader comments that implied life with intellectual disability is less than human.

“The reason it is called a disability is because it is a lack of something that makes a complete human being,” one reader noted. “That is a tragedy; it is not another equally good form of personhood.” Said another: You’ll never meet a doctor or a lawyer with Down syndrome.”

Doesn’t that sound like a ranking of human worth based on IQ? Are people with high intelligence genetically superior, inherently “better” people than others? Are we less human when our academic intelligence is limited?

Eugenics-like thinking spills over into the field of prenatal genetic testing.

Sixteen years ago, when I balked at having an amniocentesis after finding out I had an increased risk of having a child with Down syndrome, the grey-haired obstetrician sent in to “counsel” me flipped: “If you have a Down syndrome baby, that’s a burden you’ll live with for the rest of your life,” he squawked, eyes popping and mouth twisting. “If you have (an amnio-induced) miscarriage, you’ll be depressed, but then you’ll get pregnant again and have a ‘normal’ baby.”

When I later gave birth to a child with a rare genetic condition, a genetic counsellor explained it was a random, not inherited, occurrence then enthused: “You have every chance of having a perfect baby—next time!”

Doesn’t talk of perfect and imperfect babies, of normal and abnormal babies—in the profession of prenatal testing—make you shudder? Isn’t it just a little simplistic? Is even the healthiest baby in any way destined to be perfect? I thought to be human was to be imperfect.

My son Ben managed to elude a diagnosis of mental retardation until he turned 11. He was challenging to test because he didn’t speak. I remember the day I opened a psychological report and for the first time saw those two words—mental retardation—staring back at me. “It doesn’t change anything,” I told myself, but as the night wore on I railed against it, unable to sleep, and wept in my boss's office the next morning.

But when I looked more closely, I saw that my sorrow wasn't for my son—who had not changed one iota since the night before and was no less whole in my eyes—but for the terrible stigma that had befallen our family.

And I couldn't help thinking, like so many other things I’d learned in life: “It’s not what I thought it was.” My conception of mental retardation prior to having Ben in no way matches the reality of his life—or of my ability to love him. My son is bright and clever and curious and a million other good things that are visible to people who take the time to get to know him. And he has a rare gift: he has no pretence. He accepts himself and others as they are. In that way, he is more able, more evolved, than I am.

My first instinct as a mom was to hide his diagnosis. But how will we ever change perceptions if we’re too afraid to talk about taboos? So I wrote about it in the hope that it would convey that my kid has this thing—and he’s awesome. Yes, my kid is mentally retarded and I love him. No, I would not change him. No, I do not feel his worth as a human being would increase if his intelligence shot up.

We also need to talk about the violence and discrimination associated with the common, crass use of the word “retard.” And in the same way we’ve outcast the N-word from the popular lexicon, we need to give the colloquial use of the R-word the heave-ho.

“You can’t ban use of a word!” some will say.

No, you can’t. But you can make it socially unacceptable to use it. Case in point:

My 10-year-old Haitian son Kenold came home from school one day and surprised me by saying: “Someone called me nicked.”

“Nicked?” I said. “Do you mean ‘naked’”?

Of course it didn’t take long to realize the kid had called him a “n**ger.” After discussing what the word meant and why decent people didn’t use it anymore, I called the principal. Her response was swift.

The next day, she called Kenold into her office and had him look through photos of the entire student body (Kenold hadn’t known the child who taunted him). As soon as he was identified, he was hauled into the office, educated about the word, and his parents were called. They were told if it happened again the kid would be suspended.

End of story. End of problem (though I know racism is something he’ll be up against all his life).

Things aren’t always that simple. But why couldn’t similar social limits be placed on kids’ use of the word “retard?”

The social justice curriculum that has helped rid schoolyards of racial epithets needs to be broadened to include the history of discrimination against people with intellectual disabilities and education about why the R-word is a hateful slur.

Then we need to hope that role models—from movie stars to Emanuel—get with the program to make demeaning people with mental retardation “uncool.”

I support Special Olympics in its awareness day March 3 to Spread the Word to End the Word.

I remember how I felt two hours after my daughter Penny was born, when I first found out she had Down syndrome. I wracked my brain for information about this thing that had just happened to our family. All I could come up with was early death and mental retardation. The doctors didn't help much. In the hospital, we received a list of all the things that might go wrong: heart defects, leukemia, celiac disease, developmental delays.

Two years later, I'm pregnant again. Recently a colleague exclaimed, "I didn't know you were expecting!"

I grinned and patted my round belly: "Hard to miss."

"I assume you've done all the screening on this one to find out, if, you know . . . "

I tried to explain why I wasn't opting for amniocentesis, why I was uncomfortable with the prenatal testing industry in general, and why I wasn't particularly concerned about having another child with Down syndrome. She didn't seem to understand.

Penny is 27 months old. She says "no" with the gusto of any of her peers. She uses spoken and signed words to tell me what she did at school today, and the names of her friends, and what she would like for her afternoon snack. Penny loves music. She's learning her shapes and colours. She gives lots of hugs. She's also very small, and she wasn't able to walk steadily until a few months ago. She is my daughter. She is my daughter with Down syndrome.

Asking whether I am at risk for having another child with Down syndrome (statistically speaking, yes, my "risk" at age 31 being 1 in 100), is akin to asking whether I am at risk for having another child with brown hair, gorgeous green eyes, her father's hand-eye coordination, or her mother's love for books. It implies that Down syndrome is something separate from Penny, something that could be extracted if only we had the proper tools and procedures. But that extra chromosome is intrinsic to Penny's being. To take away Down syndrome is to take away Penny.

Later, I heard a report on NPR about a new ethics recommendation from the American College of Obstetricians and Gynecologists (ACOG), stating that doctors unwilling to provide abortions have an obligation to refer their patients to another physician who will provide them. The spokesperson said: "If a physician has a personal belief that deviates from evidence-based standards of care . . . they have a duty to refer patients in a timely fashion if they do not feel comfortable providing a given service."

Studies show that women who receive a prenatal diagnosis of trisomy 21 (the technical term for Down syndrome) terminate the pregnancy 85 percent of the time. Since new medical guidelines - including "evidence-based standards of care" - suggest that all women, regardless of age, be screened for trisomy 21, it is most likely that the number of prenatal diagnoses, and the number of terminated pregnancies, will increase. Evidence-based standards of care result, more often than not, in the elimination of people like my daughter from our society.

As a result, I am somewhat skeptical about the standard of care offered to these mothers. I'm skeptical, too, when "personal beliefs" are pitted against evidence, implying that a physician unwilling to perform an abortion has defied ("deviated" from) the facts. I understand that many women face unbearably difficult choices about the health of their babies. Some choose to terminate their pregnancies because they have been given information about the near certainty of physical abnormalities and high possibility of early death. Yet many also choose to terminate based on probabilities, fear and misinformation. In the case of Down syndrome, many receive incomplete and outdated data.

The most recent ACOG parent education brochure entitled "Genetic Disorders," published in 2005, defines Down syndrome as "a genetic disorder resulting from an extra copy of the 21st chromosome in which mental retardation, abnormal features of the face, and medical problems such as heart defects occur." The brochure reads the same as the brochure published in 1995; by definition, it is not up-to-date.

One has to hope that in following "evidence-based standards of care," doctors and nurses will do better by their patients than 10-year-old boilerplate. I hope they include the fact that the life expectancy of people with Down syndrome has doubled in the past 25 years, or that the average IQ of a person with Down syndrome has doubled over the course of the 20th century, or that many physical "defects" can be corrected relatively easily because of advances in medical care. (Penny had a hole in her heart, for instance, that may well have killed her a few decades ago. Now, it didn't even warrant an overnight stay in the hospital.)

I will follow my doctor's orders and have a level 2 ultrasound. I will pray that this baby's heart, lungs, brain and limbs look healthy and whole. I will try to remember what I felt when the words Down syndrome first became a part of our reality. I will try to have compassion for every person who has trouble understanding the blessing Penny is to our family.

I will also hope and pray that physicians advising women who are frightened, confused and faced with life-changing decisions will offer those women a true choice, an informed choice, a choice based on the evidence that all of life is fragile and uncertain, with potential for heartbreak, and for great joy.

This article was originally published in the Philadelphia Inquirer on July 13, 2008, with the headline: Down syndrome is a part of who my daughter is.

Barb's daughter Annie (above) was born without the brain and heart defects common in Trisomy 13, but died at 80 days in 2005 after being rushed to a children's hospital in respiratory distress. Following her death, Barb acquired Annie's medical records and learned a "not for intubation" order had been written without consent. “This discovery was like the first domino in a long line of questionable events that left us unclear as to whether our daughter’s death was preventable.” Determined to change what she believes is systemic discrimination against treating children with certain genetic conditions, Barb shares Annie’s story at health-care conferences and ethics talks, with medical and law students, in medical journals and through her work with Patients for Patient Safety Canada.

Me: When did you learn Annie had Trisomy 13?

Barb Farlow: After the 22-week ultrasound, the geneticist said "this is Trisomy 13, 18, or something equally lethal." We were told she would likely die before birth or in the delivery room. Initially, the research we did suggested these babies were ‘incompatible with life.’ We were confused because it seemed that many of the anomalies they had could be fixed. When I was six months pregnant we found Living with Trisomy 13, a web site for families. We came to know many living children and their families and discovered these children were very special and loved, that some did benefit from medical intervention, and that while the experience was challenging, it was life-changing for the families.

Me: How did you decide to continue with the pregnancy?

Barb Farlow: It wasn't a process, it was immediate. By the time of the diagnosis, I had grown to love my baby and felt very protective of her. I realized the odds were against her even coming to term, but it didn't mean I would take steps to end her life. The geneticist said “We don’t do surgery on these kids” and an obstetrician later told us: “You don’t crack the chest open for these little kiddies.” That prompted us to meet with staff from three departments at the children's hospital to ensure that if Annie needed life-saving surgery, she would be eligible for it. We were told she’d be treated like any other child. We knew surgery might not be indicated for her – that it might be too burdensome or not in her best interest, but we didn’t want the door closed on account of her genetic condition or disability. We wanted full information about the benefits and risks of any treatments so we could make good choices.

Me: What were your hopes and dreams for Annie?

Barb Farlow: We wanted her to have a chance. We wanted her to survive as desperately as any parent wants their child to survive. We were well aware of the disabilities and challenges she would have. My husband had taken an indefinite leave from work so that we could both devote ourselves to Annie and our other children. We wanted Annie to have comfort and happiness and we knew that through loving her we were going to learn so much. With Annie, we took nothing for granted and lived each day to the fullest. One clear, hot night, when everyone was asleep, we took Annie outside and looked at the stars together. We viewed life differently when Annie was born. Her first smile was like magic.

Me: How was Annie affected by Trisomy 13?

Barb Farlow: When she was born, we learned she didn't have the brain defect or the major cardiac condition they predicted. She was seven pounds, with Apgar scores of eight and nine out of 10, which was amazing. We were more shocked than anybody. She wasn't blind or deaf, which was a possibility, and she didn't have any major structural deformities in her organs. As we were rejoicing about how well Annie was doing, a medical fellow asked my husband: "Do you really want to treat this child? She's going to have these disabilities." He suggested she shouldn’t be treated, irrespective of her physical status. It was like a slap in the face. Annie was treated in hospital for six weeks for low blood sugar and received excellent supportive care at that time.

Me: How did Annie die?

Barb Farlow: We only recently received the medical certificate of death and it lists respiratory distress that began one month prior to her death. When we took her to the outpatient clinic two days before she died – because she was having trouble breathing and her face was beet red – we were told it might get better on its own and sent home with no tests and no measure of comfort for her distress. Earlier on, a pulmonologist had suspected she had a tracheal disorder, but she was never tested for it. When she was rushed to hospital in acute distress for a tracheal assessment, we were told her trachea was fine, but she had pneumonia. She didn’t. We later learned that throughout her life, doctor after doctor ignored critical indications of impending respiratory failure. Meanwhile, we were led to believe that Annie was receiving full care.

Me: How are children with serious genetic conditions viewed in our culture?

Barb Farlow: Especially with the financial challenges in our health system, I think there's an element of anger similar to how some people feel when a person is obese or a smoker and needs expensive medical treatment. There's the perception: "This is a choice, a life choice, we have ways of preventing these things." I think there are many in health care who see these children this way – as something we can avoid and have the ability to avoid. There's a perception that if a child isn't perfect, it's cruel to bring them into the world. It's expected that the vast majority of women are having testing and will terminate for these conditions. I think it's a challenge for health-care providers to have compassion and see value in our children when it's a road they wouldn't have taken themselves. Especially when there are limited resources and they're already short of NICU beds.

Me: What about in the community at large? Did you feel supported as a mother who chose not to terminate a child with a genetic condition?

Barb Farlow: I had a sense that most of our friends and neighbours wouldn't understand our choice, so during the pregnancy I confided in only a few close friends. It's unfortunate, because a person needs a lot of support at that time, but the support doesn't exist. When you terminate in our system, you're given a gift package – with hand-knit booties, a swaddling blanket and a kit for making footprints. There are support groups and psychological counselling and it's all there to help you go in that direction. If you choose not to terminate, you're on your own, with some of your friends and relatives thinking you're crazy.

Me: How has the rise of prenatal testing influenced public perceptions about children with genetic conditions?

Barb Farlow: I believe it creates the perception that we have a cure for these conditions. There’s a sense of “I’ve done all my prenatal screening and testing, I have a right to a perfect baby.” I’ve heard from genetic counsellors that more women are terminating for less serious conditions like cleft lip and palate, or club feet. I think we need to review whether the training doctors receive allows them to counsel in a neutral and balanced way. I found an educational presentation online created by Ontario’s Fetal Alert Network that included a photo of a stillborn child with a severe deformity related to Trisomy 13 placed next to a picture of a one-eyed Cyclops from Greek mythology. This was a terribly dehumanizing picture. When a family doctor has a patient whose fetus has been diagnosed with Trisomy 13, what picture will come to his mind? Annie had an extra finger on both of her hands. But she wasn’t less human.

Me: You’ve spent the last three years sharing Annie’s story across North America and further afield. What do you hope to achieve?

Barb Farlow: I hope I’ve opened the eyes of health-care providers to how a family makes decisions and how they feel. I hope I’ve held a mirror to them to reveal how their actions or inactions were perceived by a family. I think there’s a group-think approach in health care to issues related to disability. Everybody does what everybody else is doing and no one thinks for themselves. I believe a lot of denials of care are tacit and “let’s all do this because we think everyone is doing this" and based on the assumption: "These kids are hopeless and no one wants them.” I hope I’ve changed that, and allowed providers to start thinking about things in a different way, so they can stand up and speak for what they believe is right.

We know that our decision was not a common one, but we believe parental involvement and consent in treatment decisions are critical. I think there should be a requirement that children with complex conditions have a clear treatment plan documented in their file that includes the parents’ values and wishes. The issue is consent, and if the line is crossed now, on this genetic condition, what other conditions will be crossed? Down syndrome is also a genetic condition in every gene, and we don’t call it lethal. Sometimes children with Down syndrome have things that need to be fixed, and we fix them.

Me: What advice would you give a parent who’s chosen to bring a baby prenatally diagnosed with a genetic condition to term?

Barb Farlow: Number one would be communication. It’s important that the doctors know you’re aware of the challenges of the medical condition, that you’re realistic and realize you might have to make difficult decisions. Emphasize that you want to make decisions based on medical reasons and not quality-of-life reasons, that you’ve accepted the disability. It’s helpful if you connect with other families of children with similar disabilities prenatally, so you can say you’re aware of what you’re getting into and you’ve made the commitment.

Ask a lot of questions about tests and their outcomes and continually restate your position regarding the level of care you want. You may be afraid to ask questions because you’re afraid of the answers. It’s natural, as a parent, to be afraid of bad news. But you must ask anyway. After Annie’s death I was asked by the chief of a hospital department why I didn’t challenge the doctor at the outpatient clinic we took her to when her face was beet red and he sent us home. I wouldn’t have dreamed of challenging a doctor at that point. We trusted them.

At the international level, groups for Trisomy 13 are trying to get a short medical primer developed that lists the various associated conditions and treatments so that parents can speak intelligently about the issues with their doctor. Connecting with other families prior to your child’s birth is a very important way to get educated.

Click here to read an overview of Annie's story.