'My visits are seldom welcome:' Life as a geneticist

A few years ago we ran a post called 'Everytime I see her I feel guilt.' It was about an article in the American Journal of Medical Genetics by Dr. Malgorzata (Margaret) Nowaczyk, a pediatrician and clinical geneticist at McMaster University in Hamilton, Ont. In the article, Margaret said: "Doctors write stories to give voice to the human element of the illness story that modern medicine has taught them to ignore. Doctors' stories can be as powerful as patients' stories, but doctors rarely allow themselves to tell them." BLOOM asked Margaret to share 10 things she knows about being a clinical geneticist.

By Dr. Malgorzata Nowaczyk

1. I never tell patients what to do, even when they ask, but I always support the decision they make, no matter how different it is from my beliefs and experiences. Prenatal diagnosis is the most difficult for me because here you really do deal with life-and-death decisions. Some decisions mean that a life will not happen.

2. In genetics there’s never one patient. When a diagnosis is made, it frequently affects the patient’s whole biological family in ways unforeseen. Patients require a lot of education. Sometimes they don’t want to share their genetic results with family members, and this puts the physician in a terrible bind. If I shared information with the family members at risk, I would violate patient privacy. I have had situations where a child was born with severe disabilities because a patient chose to withhold information.

3. The field of genetics changes all the time, especially in the last decade.  As a result, most of what we learned in medical school or residency is obsolete—if not just wrong. I am constantly learning—reading or writing articles for medical journals, attending and presenting at conferences and discussing new developments with colleagues and experts. While this is challenging, it’s also intellectually stimulating.

4. People don’t cherish their relationship with geneticists the way they do with other doctors—probably because we aren’t in the business of fixing things. My visits are seldom welcome. I’m often giving news of a serious diagnosis. In 20 years I have received three thank-you cards. Around Christmas time, when my pediatric colleagues carry home baskets full of gifts and cards, I go home empty-handed. That’s why the thanks I do get is so precious.

5. No single geneticist is an expert on all conditions. Almost every day I consult with other geneticists in a network around the globe.  We tend to be very collaborative.

6. Photos help us document clinical features, remember patients and track the progression of a disease. Before images became available on the Internet, it was textbook photos that taught me to recognize a multitude of syndromes. I’m grateful to those patients in the textbooks, although I recognize that often consent was not obtained properly. I understand that having photos taken is sensitive for families. I present them as an option, discuss the pros and cons, and always honour a refusal.  

7. I have seen people at the worst times of their lives and bore witness to the astounding strength of the human spirit. I have also witnessed times when suffering outweighs a patient’s or family’s ability to cope. In these cases, we try our best and then we ask for help from our wonderful and experienced social workers.

8. Clinical genetics is highly specialized. We are not researchers who work in the lab, and we are not genetic counselors. We are doctors. It takes 15 years to become a clinical geneticist: four years of undergraduate work, four years of medical school, five years of residency and another two to three years of fellowship or research. I would say it takes another 10 to 15 years of work in the field to feel truly qualified.

9. Over the years I have paid a high personal and emotional price for work in this field. I started off as a medical student fascinated by the genetic and metabolic puzzles that conditions offered for solving, but with experience I ended up caring a lot more about patients’ stories and journeys than the diseases they have. That has taken a toll. Most of the time I can’t cure the disease, but I feel that I can do something for the patient and his or her family: offer support, understanding of the disease process and acceptance.

10. If I was to start my professional life over again, I would choose genetics, again. In a heartbeat.

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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 science doesn't have all the answers

By Louise Kinross

It’s on the list.

My son’s rare genetic deletion is on the list of disorders identified by microarray analysis of a fetus’s DNA. 

It was a surprise to find it there, but given the dizzying speed of prenatal testing advances, it shouldn't have been.

It makes me sad to think that the lives of children like my son are being targeted for termination. Is this a step forward? Something that will make the world a better place?

We can identify more and more genetic disorders, but can we use this information in an enlightened way to help families make decisions about raising or terminating children with disabilities?

Microarray analysis is a new technique that compares a fetus’s DNA with a normal DNA, identifying genetic duplications or deletions too small to be detected by karyotyping (the microscopic analysis of chromosomes that picks up larger changes like those seen in Down syndrome).

That's why when I had an amniocentesis over 20 years ago I was told the child I was carrying was "normal," when in fact he had a genetic change too subtle to be detected.

I've written about that experience. How an elevated blood test led us to a genetics counselling appointment where there was no counselling: no discussion about our values, what parenting meant to us, or how we felt about screening for and aborting a fetus with genetic disabilities. Other than a recounting of the dry statistics (that I had a 1 in 200 chance of having a child with Down syndrome and a 1 in 200 chance of miscarrying as a result of the amnio), there was no discussion at all.

When I couldn't make a decision, an obstetrician was sent in to berate me, referring to a child with Down syndrome as "a burden you'll live with for the rest of your life."

In a 2012 study published in the New England Journal of Medicine, the new microarray testing picked up the kind of genetic change my son has in six per cent of fetal samples with normal karyotypes from women who were referred when a structural problem was seen on ultrasound, and in 1.7 per cent of samples with normal karyotypes from mothers who were referred because they were older or had had a positive screening test.

Microarray currently requires fetal cells that are taken through amniocentesis or chorionic villus sampling, so it comes with a risk of miscarriage.

But the researchers look to a non-invasive blood test being developed, with hopes that "every woman who wishes will be offered microarray, so that she can have as complete information as possible about her pregnancy," says lead investigator Dr. Ronald J. Wapner in a related news release. Dr. Wapner is professor and vice chairman for research at the Department of Obstetrics and Gynecology at Columbia University Medical Center.

Who can argue with complete information?

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."

Yesterday one of our readers sent me a study called Posttraumatic growth in parents and pediatric patients in the Journal of Palliative Medicine. The study is a review of 26 journal papers on positive psychological change that results in parents or children after a child's traumatic medical event (including cancer, prematurity, and acquired and congenital disability).

"Posttraumatic growth is the positive psychological change that results from a struggle through a life-altering experience" and may include "greater appreciation of life, improved relationships, greater personal strength, recognition of new possibilities in one's life course, spiritual or religious growth, and reconstruction of a positive body image."

The authors conclude that posttraumatic growth is an important, little studied and poorly understood phenomenon affecting children with serious pediatric illness and their families. They suggest research is needed on how professionals can positively intervene "to facilitate families' movement away from dysfunction or deterioration and toward growth." 

I include this paper because it demonstrates that traumatic experiences that shake up our worldview are not wholly negative. Life is more complicated than that.

The technical side of prenatal testing is the easy part. It's how we use that information to benefit families and the culture as a whole that's complex.

A paper on the use of microarray in prenatal diagnosis by the American Congress of Obstetricians and Gynecologists (ACOG) raises some important points.

"The potential for complex results and detection of clinically uncertain findings identified by [microarray testing] can result in substantial patient anxiety," write the authors. 

They note that women in the New England Journal of Medicine study who received abnormal results “reported a lack of good understanding of the potential for uncertain results and noted feeling great distress on receiving such information and then needing to decide how to proceed with the pregnancy.”

The ACOG recommends that women understand that prenatal microarray "will not identify all genetic disorders." 

This is a point true of amniocentesis, but when I was counselled, no one ever explained it to me. My understanding was that a clear amnio result meant a genetically-intact child. After my son was born, I stopped counting the doctors who exclaimed, in disbelief: "But you had a normal amniocentesis!"

Further, the ACOG notes that "diseases may be identified for which the clinical presentation may vary greatly and range from mild to severe. It may not be possible to predict what the outcome will be in a given patient." 

So how will identifying these problems prenatally help?

“We are way better able to counsel parents about what [development issues] would mean for the child," Dr. Wapner says in this CNN story. "We can modify the course and improve the outcome for the child.” 

I hate to be cynical, but there aren't any fetal interventions that can improve my son's condition, or many of those I see on the list.

It would be useful to know what happened next in the cases of the women in the study whose fetus's received diagnoses. Did any of them benefit from fetal interventions that changed their outcome? Were the fetuses carried to term followed to see how they and their families fared? How many were terminated? 

Oddly, the paper doesn't mention anything about termination.

How come there is no research on the "after" side of the prenatal-testing equation?

For example, how do parents rate the counselling they received? How could it be improved? Did parents feel equally supported by professionals in choosing to carry a child to term or terminate the child? What supports are provided to parents who terminate and what supports are provided to parents who don't?

We know that 85 per cent of women who receive a prenatal diagnosis for Down syndrome choose abortion.

Do they feel it's a choice, or a social responsibility?

This study in the Journal of Applied Social Psychology looks at how people judge women who carry a baby with an identified disability to term or refuse prenatal testing.

The survey asked 281 staff at a Canadian university and 341 Canadian doctors who work in obstetrics to rate three scenarios in which a woman's child is born with a disability. Both the university community and the doctors rated the woman who chose not to abort her disabled fetus and the woman who refused prenatal testing as more responsible, more to blame, less deserving of sympathy, and less deserving of social and financial support for their child's care than a woman who wasn't offered testing.

"This examination is of pragmatic relevance because of a growing sentiment that prenatal testing can and should be used to meet public economic goals by reducing the financial burden that disability places on the medical and social welfare systems, and that women who do not use it to prevent the birth of a disabled child should be held financially or legally accountable," writes the author.

I'm grateful that microarray testing didn't exist when I was pregnant with my son. I didn't have the life experience to make an informed choice, and the genetic clinic didn't provide me with any family stories to give me a picture of what real life could be like. Most importantly, I couldn't predict my ability to cope with my son's disabilities and to parent a child who's different. 

I believe the front-end of prenatal testing is proceeding at a pace way beyond our ability to understand its ramifications. 

It's how we support families after the diagnosis that needs study.

Science must be used to our benefit, not just because the knowledge and technology exist.

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Perfection

My stomach tightened when I saw the 'sell' for this story about genetic engineering in last weekend's Globe and Mail.

Invitro-fertilization and genetic testing are increasingly used by couples... capable of conceiving naturally to screen out not just catastrophic diseases but other 'undesirable' conditions.

What are those undesirable conditions? One company that screens genes is considering adding the skin condition psoriasis to the list, the article says. The 'undesirables' also include not health conditions, but physical features like short height that don't fit with our North American concept of beauty. We hear about a fertility clinic in Mexico where Canadian and other couples go for IVF -- not because they can't conceive, but because they want to select whether it's a boy or a girl (a 'no-no' in their home country). We hear that on the horizon are DNA microchips that analyze genes that influence height, intelligence, hair, skin and eye colour and athletic ability.

The piece refers to a 2009 survey of 999 people that found that most supported prenatal screening that would result in the abortion of fetuses with serious diseases, along with mental retardation (75 per cent) and blindness (56 per cent). At least 10 per cent of respondents to this New York University School of Medicine survey also favoured improving height and 13 per cent considered it acceptable to screen for intelligence.

The piece begins with this sentence: Humanity has long dreamed of perfection, striving to be faster, stronger and brighter.

Is that your definition of perfection?

To me it sounds a bit like a robot.

What about striving to be deeper, gentler, less judgmental, more kind?

The article notes that "We now have the potential to banish the genes that kill us..."

Isn't that a bit of an overstatement? Isn't the human condition still a fatal one?

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20 questions

My son Ben's genetic deletion happened as a random error at conception.

The way a researcher described it, when my chromosome 8 -- let's call it a green ribbon -- exchanged parts with my husband's chromosome 8, a red ribbon, to produce a striped ribbon, a minute piece was left out.

Early on, I found giving detailed histories of my pregnancy painful. Although I'd been told Ben's condition was a random or 'spontaneous' change, I didn't know a lot about it.

So when I was asked whether I had taken prescription drugs, drunk alcohol or experienced 'stress' during my pregnancy, and then was asked all kinds of questions about the actual birth -- including whether he needed oxygen -- it was hard not to feel in some way implicated.

Last week, I was stunned when I did an intake interview with an agency, and was asked the same questions!

I explained that Ben, now 17, had a genetic deletion that occurred at conception -- so I wasn't sure why I was being asked about my pregnancy and delivery. The cause of his disabilities was known and wasn't related to anything I did or didn't do during pregnancy.

The intake person explained that they wanted to learn more about the causes of intellectual disability (I repeated the above, but the person didn't seem able to process it -- or perhaps she was just following orders about filling out the forms).

So we went through a detailed pregnancy and delivery history again. Whenever I was asked a question about something I did or didn't do, or the circumstances of Ben's birth -- and the person took down detailed notes -- I followed by saying: "But the genetic condition was caused at conception. It had ALREADY happened!"

How is this pregnancy information used? Will someone who understands the mechanics of a genetic deletion read it?

Should someone who doesn't understand how a genetic condition occurs be asking questions about my pregnancy?

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For the love of Annie

By Louise Kinross

When Barb Farlow learned the baby she was carrying had Trisomy 13, her decision to continue the pregnancy "was immediate and innate, and in complete contrast to what I thought I might do," says the Toronto mother and engineer. She was told the syndrome was lethal, but through online support groups met families whose children were living with Trisomy 13. "It was very important to us that she not suffer unnecessarily, but we wanted to consider any surgical treatments and make 'best-interest' decisions for her, like any parent."

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.

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