Monday, August 21, 2006


"Are you saying there is no chance that the baby will have normal intelligence?"

I looked at the baby, at her flat face and slanted eyes, and noted the protruding tongue, the Simian crease. Most of all, I remembered the chromosome report: Trisomy 21.

I looked the grandmother in the eye. "That is correct," I said.

Telling a family their child has Down syndrome is never fun, and this session wasn't one of my best. Mother was taking the news extremely well, but she had been prepared by her pediatrician and another neonatologist, who had told her that on a clinical basis her baby most likely had Down syndrome. Grandmother, though, looked a little ticked off, and father was just very quiet. I don't think they had heard the previous talks that mom had.

I wish I knew what families in this situation want to hear, because whatever I say seems so inadequate. I know they want the truth, which we give them, but unless they know someone with Down syndrome it seems a little hard to explain it to them. Also, of course, there is the normal variation in severity that we cannot predict. Often the family wants some hope, some chance that the baby will turn out normal after all. Although I usually don't like to take all hope away from a family, in this situation we simply cannot tell them there's any chance their baby will be normal. Then there's the whole chromosome thing, and trying to explain to the parents how this happened. The conversation can easily swirl down into one confusing mass, or at least it seems that way to me.

So I told them one bit of truth, something I hoped would cheer them up a bit. I told them about a patient I had back when I was a general pediatrician, a six year old with Down sydrome who was my favorite patient. She had frequent ear infections, and would always come to see me very excited, bouncing around pointing at her ears and telling me to look in them. She was absolutely delightful; I couldn't help but laugh every time I saw her.

But what is cute at age 6 is less so at 16, and even less at 26.


Blogger Becca said...

I know some people who were cute, bouncing, squealing 6 year olds. Some had Down syndrome and some did not. The six year old with Down syndrome that I bounced and squealed alongside fifteen years ago has a boyfriend and a flat and provided extremely powerful and eloquent backup in the executive meeting we attended earlier this evening. An impairment of hard, cold intellect is not an impairment of the ability to grow into a mature adult and a proper friend.

Idiot parents who do not enable their children to become adults are not restricted to those bringing up a child with an extra chromosome.

8:04 PM  
Blogger Michelle said...

As a mother of a child with Down syndrome I think it's great that you wish to know the right thing to say in these situations; that you care to be sensitive to the new parents receiving this news.

I do, however, disagree with the statement you made about not being able to give them any hope about their baby being "normal." Yes I understand having that extra chromosome isn't considered "normal" but they now are living with a different kind of normal.

What is "normal" anyway? We're all different in some way. They are still little babies - human beings - isn't that normal?

Individuals with Down syndrome are more alike their peers then they are different. Just because they might learn a little slower, doesn't mean they can't learn at all.

My daughter just turned 3 last month and started preschool this month. She wears a backpack proudly like the other kids, she stays in line and holds on to the rope when they walk down the hallway to breakfast just like the other kids.

Before my daughter turned 3 she could identify/say several body parts, numerous animals and the sounds they make, all the upper case letters, colors and shapes. She knows more than 100 signs in ASL and can speak close to, if not more, than 100 words. Isn't this normal?

She loves to look at books, color, play with her baby dolls, blocks, puzzles, pretend tea set, kitchen set, trucks & cars, go to the playground and swing, slide and play in the sand...isn't this something all toddlers do?

I think when you talk to new parents you CAN give them hope. Tell them their baby is just that - a baby - and a baby first and foremost and their diagnosis is secondary. They are not Down syndrome, it's not who they are, it's just something they have. They can still take this tiny infant home and love him/her, care for him/her, teach him/her and raise him/her just as they would if s/he didn't have Down syndrome.

You take any newborn from their family and put them in an instituttion with no stimulation, no one to believe in you, no one to teach you anything - and they would grow up not being able to do much either- extra chromosome of not.

But now, people with Down syndrome are doing so much more than they were years ago, because they are being raised at home, included in the community, loved, educated and given opportunities.

So yes, I think you can indeed offer these families hope.

9:46 PM  
Anonymous Anonymous said...

I don't think giving the parents some hope will hurt. I'm usually distrustful of doctors who say things like Tri. 13 or 18 is incompatible with life, then I go read on websites about the exceptions that lived 1, 2, 3 years or so. As a parent, I'd like to know the 'usual' scenario but I'd also like to know the range. Doctors delay diagnoses of things like autism so what's the harm in delaying the diagnosis of 'normal', 'not normal'?

10:56 PM  
Blogger Dream Mom said...

I think it's best to be totally honest about the diagnosis, which you were. I think it's also appropriate to not give any "false" hope.

By the same token, you don't have to spell out every gory detail. There are some things they can learn on their own in their own time.

You can always give the parent some options of where they can get some additional information-maybe some books that you particularly like, or introducing them to other parents in your practice with a similar child. If they are interested, they can let you know.

12:41 AM  
Blogger Flea said...

Damn! Becca said it better than I could have!

I'll second her comments.


8:52 AM  
Anonymous Anonymous said...

I agree with the anonymous poster who said that explaining the typical prognosis along with the range is helpful. I'm certain I once read of a woman with Down's Syndrome who completed law school. Obviously, most people with downs are not going to achieve that, and all of those I know are very far from that, but it just goes to show the range is very wide.

11:30 AM  
Blogger karrvakarela said...

Well-put, Becca. I totally agree.

Though having said that, intellectual disability associated with Down's syndrome occurs along a range. There isn't a fixed IQ impairment associated with the diagnosis, much less a number you can pin on the child.

As Michelle said, a child is just that, a child, and deserves to be loved no less and encouraged no less than any other just because of a diagnosis. And, yes, children with Down's syndrome are doing much better because there is better awareness of their condition and more resources at their disposal than previously. As with all behavioral or developmental disabilities, the treatment is very broad-based, requiring a multilateral approach involving several different people apart from the pediatrician - physical therapist, speech therapist, child psychiatrist, occupational therapist, educational counselers, etc. The "treatment" is a primary communal response which can only be enhanced through education and willful participation.

I think it's important to counsel parents intelligently, presenting both the diagnosis and the options available to them in a gentle and encouraging way. There is no room for false hope but we need to advocate a positive attitude to the condition. We owe to our patients and their families.

12:27 PM  
Blogger Anna said...

I don't have a child with a disability, but I think it's really important, along with stating the *hard facts,* to provide them with a best case senario. There is a young woman with DS called (I think) Carrie Cliese, who has her own greeting cards' company. A young man who is a musician, gives concerts, and is engaged to be married. Another young man who is an actor with his own agent. Several finish mainstream highschool, go to college and live independently. I think you should have these people's names and stories and pass them on to the parents along with the diagnosis.

When a parent gives birth to a "typical" baby, they are aware that it might grow up to drop out of school, be addicted to drugs, get arrested or not talk to them by its 30th birthday. They know that only a very few people grow up to become doctors, lawyers or politicians, or artists or actors. But we still hope for these things for our children, and by trusting that they *could* achieve all of these things, we enable them to (hopefully) become the best they can. Noone sits down with the parents of a healthy baby and tells them all the ways their child might turn out wrong. They are allowed to hope for the very best. Parents of disabled children deserve no less than that.

1:56 PM  
Blogger PaedsRN said...

I love looking after babies with Trisomy 21, they are uniformly wonderful... but ACTIVE! Incredibly hard to sedate, which is a pain when you're trying to manage umpteen different lines, drains, and wires. The number of times I've had kids fresh back from cardiac surgery decide that now was a good time to sleep on their stomach, bum in the air and face in the mattress...

I draw respondents' attention to Neodoc's line, "the normal variation in severity that we cannot predict". I'm fairly certain every paediatric professional knows of people who have fulfilling lives despite whatever challenges they were born with. However it's that first conversation, without the luxury of hindsight, that's the challenge and I feel your pain ND.

5:16 PM  
Blogger neonataldoc said...

One of the best things about blogging is getting parents' comments. I don't want to quibble about the definition of "normal", but I fully support Michelle's approach of being positive and getting the most out of their kids.

Like others, I also agree with Becca. Regarding the baby with Down syndrome who finished law school, and the references to such kids going to college, I'm thinking such high achievers must be mosaics. I think it would be giving false hope to tell a parent of a typical Down syndrome baby that their baby might go to colege. And we do supply families with educational material and links to support groups, etc.

7:58 PM  
Anonymous Just Lurking... said...

Please, can you explain what a "mosaic" is?

10:18 PM  
Blogger Becca said...

Someone with Mosaicism is somebody whose extra chromosome is not present in all of their cells, only some of them. The mum of the lovely little boy with mosaic Down Syndrome I met this summer had been told that it was not possible to predict what her son's learning might be like, only that he would not be amongst those with the very most severe learning disability. He was gorgeous, strong and active - sitting up and drinking (messily!) from a cup at 11 months - I've known babies with full DS to be acheiving similar things at that age, so I'm really not sure how much there is in it.

Is it the case that kiddies with mosaicism are less likely to have the most severe heart problems, too?

karrvakarela put it very nicely. Doctors looking after babies born non-disabled do not feel the need to tell their parents that they may die a premature death or never achieve anything that a parent hopes for their child, even though there are some quite clear and reliable statistics about the incidence of such things in the non-disabled population.

Do folks outside the UK have organisations like Contact a Family - the offer of some photos and names and phone numbers of people who've brought up children with whatever baby has just been diagnosed with would, I imagine, be a valuable resource for a neonatal-or-otherwise paediatrician.

There is at least one neo doc in the northeast UK who is still telling parents with foetuses diagnosed prenatally with DS that they will probably not walk or talk. Dangerous, that.

7:38 AM  
Blogger PaedsRN said...

Becca asked:
"Is it the case that kiddies with mosaicism are less likely to have the most severe heart problems, too?"

I believe so, though I can't quote you numbers. This page has some more information:

"There is at least one neo doc in the northeast UK who is still telling parents with foetuses diagnosed prenatally with DS that they will probably not walk or talk. Dangerous, that."

No argument from me there. That's atrocious.

5:33 PM  
Blogger PaedsRN said...

Trisomy 21 mosaicism
Mosaic DS FAQs

5:36 PM  
Blogger Tassie_gal said...

Reading this made me think of a session I went to at the last Australian Bioethics Assoc. meeting. It was a session about ethics and disablities - and one of them was on Downs. Instead of talking about how downs syndrome is perceived - the girl giving the talk handed over to Steve - a guy with Downs, who told us about his life. he is now married a lovely girl who also has downs syndrome, and they live together by themselves in a house. He works with the local council as a cleaner (which he says he loves), and is active on quite a few disablity councils. (in fact thats how he met his wife).
Your post is heartening as it shows that some doctors do care about how the news is percieved by parents.
I fully subscribe to the adage (especially with Downs syndrome kids) that you give them exactly the same chances as everyone else, and help them live their lives to the full. I know of at least 1 downs syndrome child who went to boarding school to finish her senior schooling.

12:58 AM  
Anonymous Anonymous said...

There are most certainly children with full Trisomy 21 who have normal IQ's, including my child. Her most recent eval showed an IQ of 72, not "high normal" or "above average" but perfectly within range of "normal".
Most people with DS are in the mild category of MR, and some do fall in the normal range. Interestingly, as time goes on and children have access to better supports and services, the IQ range is moving ever higher. IQ scores range from 20 (severe mental retardation) to 85 (low normal).

there is a great deal of variation in these deficits. The severity of intellectual disability varies by the order of 50-60 IQ points among both children and adults (Carr, 1988), and Pueschel and Hopmann (1993) report wide variation in communication skills across a wide age-spread of children with Down's syndrome. Such variation, caused by both biological and environmental factors, impacts on the level of academic attainments of these children (Laws et al., 2000).


Such a pessimistic view is challenged by Rynders et al. (1997) who argue that misinformation and too little information about the educational potential of schoolchildren with Down's syndrome have led school teachers, psychologists and other school personnel to have low educational expectations of these children. In general, the findings of studies of the academic progress of children with Down's syndrome through secondary school and beyond support this viewpoint.
It is reasonable to suspect that much of the research evidence based on studies with children who were at school during the 1970s and 1980s may still underestimate the potential for academic attainment

another good link:

My daughter attends a regular 2nd grade classroom, Girl Scouts, Pioneer Club, has playdates and is very well-accepted by her peers. She does fractions, reads at or above grade level. She was potty trained at 2, tied her shoes at 4, and generally does things when SHE is ready. She is not a superstar. She is one of many youngsters with DS who are doing very well in todays climate.
I fully expect that she will lead a relatively "normal" life, perhaps going on to college. I know a young lady personally who is beginning her Sophomore year at college, and is doing quite nicely, thank you.
Perceptions of a child by the people who will raise him/her affect everything about their lives. My expectations have always been high, and she has more than lived up to them.
If you would like further information upon which to base your discussions with parents of babies newly diagnosed with DS, may I suggest you get in touch with our Pediatrician, who can set you straight on some of the issues on which you are off base. I warn you though, he had his own preconceptions to battle, but he has now come full circle. He believes in her. And that is all I could ever ask of a physician.
One other thing. "Cute" is relative. Most children go through a cute stage, and then a not-so-cute stage. It's natural. Any parent raising ANY child recognizes this.
Your insulting and demeaning attitude and your inability to see your bright lively, adorable young patient as a beautiful whole adult in the future is YOUR shortcoming, not her own.
Brian Skotko did an interesting study a few years ago regarding how a new parent is told the news, and their responses to that news. You could learn a lot from him, and he is a very young man. His saving grace was growing up with a sister with DS, whom he adores.

Skotko offers a seven-point "prescription" for communicating a diagnosis of Down syndrome:

~Results from the prenatal screening should be clearly explained as a risk assessment, not as a "positive" or "negative" result.

~Results from the amniocentesis or CVS should, whenever possible, be delivered in person, with both parents present.

~Sensitive language should be used when delivering a diagnosis of Down syndrome.

~If obstetricians rely on genetic counselors or other specialists to explain Down syndrome, sensitive, accurate, and consistent messages must be conveyed.

~Physicians should discuss all reasons for prenatal diagnosis including reassurance, advance awareness before delivery of the diagnosis of Down syndrome, and adoption, as well as pregnancy termination.

~Up-to-date information on Down syndrome should be available.

~Contact with local Down syndrome support groups should be offered, if desired.

in closing, I will pass on a lesson learned very young...if you can't say anything nice, don't say anything at all.

1:46 PM  
Anonymous Anonymous said...

Thankfully the mother I just recieved an e-mail from didn't have a neonatologist presume to tell her what limits to place on her son's future. He is 18 and drives himself successfully to and from school each day. And no, he doesn't have mosaic Down syndrome, but good old regular Trisomy 21, an extra chromosome in every single cell.

The neonatologist who delivered our son's diagnsois didn't see it as her responsiblity to deprive us of hope for the future, but to encourage us to celebrate and embrace the baby we had, and to do everything possible to help him reach his full potential. "Reach for the stars, and if you fall short you'll catch the moon." Pretty good advice for any new parent.

Cuteness and intelligence do not equal quality of life--just ask all of the depressed supermodels and PhDs out there.

10:54 PM  
Blogger Anne said...

My husband loathed the Neonatologist who gave him our son's diagnosis of Down Syndrome. I wasn't there so I don't know exactly what was said. But my husband has said that the first question the Dr. asked was whether the baby looked like our other children. Then asked a few more questions and then pronounced the diagnosis.

Now, the Neonatologist later came to my hospital room and was very kind and thorough in explaining the clinical signs he saw. But, I'd already been through the shock of receiving the diagnosis.

We both had backgrounds in molecular biology/biochemistry so we understand the How of DS but still haven't figured out the why us?

11:00 PM  
Anonymous Anonymous said...

I think as long as you're aware of correct language, not predicting exactly what the child's life will be like, and making sure the parents know there are a lot of things they can do to help their child and lots of resources to help them know what to do - then you've done what you can do.

Keeping in touch with a local DS group could give you a lot of resources and give you feedback on what improvements you could make.

However, ultimately, I think it's just a hard job and I don't envy you your role. Some families just have a really hard time with the news. Sometimes it's the mom, sometimes the dad, and sometimes the grandparents.

You're in a situation where you don't know the people you're talking to and you have to present information that is going to change their world.

I think the best thing that happened to us was that our pediatrician talked to us soon after we learned DS was suspected. We had known him for many years, and had a pretty good doctor/mom relationship - so it wasn't a stranger.

I'll have to ask him one of these days how hard it was for him to make that phone call and hospital visit. I'm sure it wasn't easy.

Keep up to date on the information - and find some parents who have a child with DS who can be there for parents who want to talk about it.

Maybe get a little involved in the local group - go to a Buddy Walk - donate some time (or money) - get to know us. We're a lot different in 3 months and 6 months and a year - than we are on Day1.

Oh - and here is an article written by a father of a boy with Down syndrome that discusses the "end of cute". So - don't let them beat you up about that one.

7:25 AM  
Anonymous Anonymous said...

I think you are missing the point about people being offended by "cute". I wouldn't expect a teenager or young adult to be "cute" if they didn't have Down syndrome--obviously there is an end to happens to all of us, not just those with an extra chromosome.

8:40 AM  
Anonymous Anonymous said...

As a parent of a child with DS, we found out in the delivery room. Our doctor said, "I need to be honest with you and tell you that your son has some of the markers of DS." Once the shock wore off, the bottom line was that he was my son, and he needed us. Soon after we had a geneticist in the room with us (who specializes in DS) and the president of the local DS Assoc. The difference was hearing 'congratulations.' This was our child, loved unconditionally, just like typical children are. The worst you can do is say 'I'm sorry.' Tell the truth--they will take longer to learn, but they WILL learn! They will read, they will walk, they will have friends & they will make you laugh. Also tell them they are about to embark on the most amazing journey of their life. We get to slow down & celebrate the milestones that others take for granted.

I've heard horror stories from other parents as how insensitive and uncompassionate doctors have been with them. This diagnosis isn't the end of the world! The best thing you can do is put parents in touch with local support groups and meet other parents--that's how they see how "normal" their lives will be. Our local DS Assoc holds clinics at all the local hospitals to teach doctors and nurses how to handle giving the diagnosis and dealing with the parents.

As someone posted earlier, you wouldn't set limits with a typical child. My parents raised me with the philosophy, "you get out of it what you put into it" and I will do the same with my son and my future children. I don't set my standards lower for him--I do anything and everything I would do for ANY child.

Please remember that these are children first and they have the ability to achieve more than people give them credit for. No one should ever set limits on ANY child!

PS--Why should you not give a parent hope? Why is it your right to tell parents what you think their child can or can't achieve? I know some young adults with DS that have more goals and determination than typical adults that I know. As someone said, you should shoot for the stars and if you only make it the moon, that's OK!

11:30 PM  
Anonymous Anonymous said...

And one more thing: I know 2 young adults with DS that are in junior college right now (that is more college than some of my family and friends) ---so why would it be false hope to tell parents their child will go to college? (tell them MAYBE!)It almost sounds like you're the one that needs to drop the pre-conceived notions of what our kids can or can't do! Bottom line is that no one knows what the future holds, so don't dispense your opinion, only the facts of DS. With early intervention & dedicated parents, anything is possible. Do doctors not have an idea as to the impact their attitude & opinions can make on people? Ugh! Treat parents how you would want to be treated if you were in their shoes.

1:06 AM  
Anonymous Jennifer said...

How incredibly narrow-minded of you! How do you know this of our kid's potential into adulthood...don't you work with children all day? Honestly, I think sometimes the medical community that can save our child's life one minute can be their worse enemy the next.

Do you tell the parents of typical kids that they have more of a chance working at Walmart of McD's than ever becoming a doctor or lawyer? By using negative, INACCURATE stereotypes you are only enforcing the barriers that our kids face in society. Please stick to your medical diagnosis and allow these parents to get their information from more up-to-date sources.

5:35 PM  
Anonymous trisomymommy said...

When my daughter was born and diagnosed in February, the doctors all tried to be positive by telling me about people with DS who are "high functioning". That was fine, but it didn't really bring me much comfort. The message that I really needed to hear was that our family could be happy. What I feared most was that I was in for a terrible, burdensome, life-long struggle. That first week, I got two very comforting comments, none of which came from the doctors. One person told me about a couple she knows who have an adult daughter with DS. She told me, "She is the light of their lives." Another person, who has an adult son with DS, told me, "Our son with Down syndrome has not been the son that has caused us the most trouble!" and then he added, "You are just going to have so much fun with her." Now six months later, I'm still coping with the diagnosis, but most of the time I just delight in my daughter.

10:41 PM  
Anonymous dki617 said...

I would walk in with a big smile on my face and say, "Congratulations on the birth of your baby! What a beautiful little girl she is!" Shake the parents' hands.

"I was examining Jane and I have come across some indications that tell me she has Down Syndrome." Pause. Let it sink in.

"Have you had any experience with a person with Down Syndrome?"

If the parent say, "No," then tell them that there are a lot of stereotypes out there about Down Syndrome. And that there is a lot of misinformation about it from lay people. "The truth of the matter is, like with ANY newborn, we just don't know what Janie's capabilities will be. Just like with any child, you will only know the answer to this question with the passage of time." Pause. Let it sink in.

Let them ask questions. If they want to know the ability range, you can explain that there are people with Down Syndrome who cannot talk and are severely impaired, and that there are people with Down Syndrome who live on their own as adults.

Do not tell them you are sorry about this.

Let them know that there are a lot of systems in place to help parents, and GIVE THEM INFORMATION ON THOSE SYSTEMS/SUPPORT GROUPS.

Be sure to let them ask all the questions they may have.

When my daughter was born with severe disabilities (not Down Syndrome) 12 years ago, I was scared and I was in shock.

I truly believe that some parents go through a kind of a PTSD thing after this news is presented. I can honestly tell you that there is a lot about her first two weeks in the NICU that I still cannot remember at all.

Some people will ask you the same questions over and over. Please be patient with them. It can take a lot to get this information assimilated into your psyche.

And thank you for asking this question.

12:21 PM  
Blogger Pajama said...

Bravo for wanting to know what we want to hear. Thank you for taking the time to ask!

We want to hear congratulations, not “I’m sorry”. We want to hear our child is beautiful. We want to hear our child is something to be celebrated, even though he/she may have Down syndrome. We want to hear he/she will learn at a slower rate, but he/she WILL learn. We want to hear there are going to be difficulties, but there are going to be great rewards. We want to hear we are having a child FIRST and a child with Down syndrome SECOND.

I will never forget when I took my daughter to the emergency room with a staph infection. The ER doc took her medical history (which I omitted Down syndrome from due to the obviousness) and he said, “Is that it?” I said, “Aside from the Down syndrome, that’s it.” He looked me dead in the face and said, “Good! You know. I was afraid I was going to be the one to have to break the bad news to you.”

Had I NOT known, this would have been my introduction to my child’s diagnosis.

We don’t want to hear our child is not NORMAL. What is normal? Our children have everything that we have, with one little addition. They can love, learn and thrive. Isn’t that normal? I understand you can argue the definition of normal, but this isn’t a word I would choose to use when telling a parent his/her child has a chromosomal abnormality.

We want to know our child will bring us love and joy, just like any other child. We want to know we are still a mother or a father (or grandparent) and our child is just that, a child.

We want to hear that there is a WIDE spectrum as far as Down syndrome is concerned. We want to hear how every child is different and no two children, even two children who share T21, are the same. They all have their own medical concerns, learning curves and personalities. I have two daughters with Down syndrome. One was born with a heart defect, tear duct issues and had numerous ear infections. The other was born six weeks early and had NOTHING medically wrong with her. Not only was she healthy for having Down syndrome, she only took oxygen the first day and was breast feeding by the second day. Two children, one diagnosis, such a HUGE difference.

Doctors didn’t put limitations on my typical son and I don’t expect them to put them on MY daughters. Give me examples of what other children and adults with Down syndrome have achieved and then tell me the sky is the limit for my child and there is no way to predict how severely she will be affected. Don’t put limitations on her and then maybe I won’t either.

9:53 AM  
Blogger Leticia said...

You've received some constructive criticism here, and some great advice from those who know more than you in one aspect; what it's like raising a child with Down Syndrome.
That's why, after dispensing the facts and figures, you can give them a few internet links, (mine for instance) and let them hear from other parents what all the facts amount to in real life.
Children are more than IQs scores and heart defects, yet parents so often become overwhelmed with these facts,that 90% chose to abort their child with Down Syndrome.
You should let them know what they are missing. I do, every day!

12:22 AM  

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