Friday, January 26, 2007


The mother of the six month old baby looked tired, not just the kind of tiredness you get from one night's poor sleep, but the weariness you get from many nights of worry. This was during my year of general pediatrics practice, before I became a neonatologist. I had known the mother from the hospital where I trained, and now she was bringing her baby to see me.

The mother was a licensed practical nurse. When I first met her she was like many people in their 20's, nice and easy going but looking for that right person for a spouse. You've seen this picture before: She found her dream guy, they married, bought a house, and began to plan a family. The pieces of her life were falling into place, her dreams were becoming reality.

But then life threw her a curve. Her first child was born with Rubinstein-Taybi syndrome, a syndrome characterized by broad thumbs and toes, developmental delay, and an average IQ of 51. Like many babies afflicted with this syndrome, hers had feeding problems, frequent respiratory infections, and gastroesophageal reflux, adding up to a baby who was a real handful to care for. In addition to the infant problems, there was the knowledge that this baby would never be normal and would likely always need her support. This wasn't how the dream was supposed to go, and it showed in mother's eyes.

To be honest, there wasn't much I could do for her. Sure, we did our best to minimize the reflux. I think we sent him to physical therapy, although in these cases that is more to give the family something to do than to significantly affect the final outcome. Mostly, though, the mother had to deal with this irritable, delayed baby on her own.

Like most people, I have great sympathy for such parents. It's bad enough that he had health problems as an infant, but the fact that there was no hope he would become normal, like she had dreamed of, was probably harder on her than his current illnesses. We expect when we are pregnant that everything will turn out fine, but there are no guarantees of that, and it can be a bitter pill to swallow.

It is difficult to compare people's suffering, but I suspect it is harder for parents of children with known unfortunate syndromes than it is for parents of very small premature babies. With most of the premies there is at least the hope that the child might catch up and become normal, but with kids who have, for example, Rubinstein-Taybi syndrome, the suboptimal neurodevelopmental outcome is certain. Unless and until those parents make a quantum adjustment in their aspirations for their child, life must seem dreary indeed. I don't envy them.


Anonymous Anonymous said...

FYI, we featured your blog on Fox News Health with Dr. Manny today in Is There a Blogger in the House? Five Great Doctor Blogs . Tried to send you an email but couldn't find contact info, send us a note through so we can get in touch...

10:59 AM  
Blogger Lori said...

It is not only difficult to compare people's suffering, but it is something you just shouldn't do. In many instances it is like trying to judge which would hurt more, having a tree fall on your head, or a building? Well, they are both pretty much going to flatten you!

Does it hurt more or less to watch a dream die quickly or slowly? Who can possibly say, and what would be the point in trying? Hope can be a powerful thing that's true, but it can also lead to an inability to live in the present, in the reality of the here and now. There are a myriad of ways that people encounter suffering and loss in this life, and they all deserve nothing more and nothing less than our full compassion.

11:20 AM  
Anonymous Anonymous said...

I found your site yesterday due to to the Fox News Health article, and it's fascinating. As a pregnant mother of twins, it's just interesting seeing what an everyday type of thing is like in a NICU. Good luck, and thanks for writing!

11:32 AM  
Blogger Geoff said...

I agree entirely. As the father of a 9 yo 25 weeker (not that early, I know) even from day one I knew if she got through the first few weeks that there was a good chance that she would grow up to be healthy, reasonably intelligent mostly normal child/person. She has some cp affecting her limbs and coordination but we are blessed compared to many. I also rejoice that I can influence her to have a good attitude to her inflictions and encourage her to make the most of herself. I can't say I'd have been so positive/optimistic had the prognosis be poorer, or her condition life-limiting. I've written here before commenting that I believe we strive too hard to save premies with v.poor outlooks.

11:33 AM  
Blogger Anne K. said...

Lori, please don't be too harsh on the doc for his personal ruminations upon which situation might be more difficult. I think it's clear that he does treat each case with deep compassion and caring. Thanks as always, Doc, for providing us this rare glimpse into the personal challenges some of our fellow citizens must carry. You give all of us an incentive to become more compassionate.

12:28 PM  
Anonymous justaminute said...

My son was born with Down Syndrome 2 1/2 years ago. Yes, the child we had envisioned was not the child we were indeed holding.
I guess I could have clung of all the things he wasn't going to be. I guess I could have focussed on all the ways he was not going to measure up. My fourth child has not brought me one moment of "dreariness". I know that someone who has never walked in my shoes can ever understand the revelation it is to realize the full potential of one's ability to love and accept.
Gosh, I just hope that when I run out to grab a gallon of milk without doing my hair or putting on my make-up it won't put the neighbour I bump into through the same thought process you had on that day in your office. I know more than a few moms with perfectly normal children who look like they are going through life's wringer. I also know moms with severely disabled children who look like they just walked out of a magazine.

2:24 PM  
Blogger munkeesmama said...

Very well said, I think most of what you have written I agree with. Some people say I lack compassion, I say I'm a realist and prefer to live my life that way rather than trying to turn everything rose colored. With that said. I know that some of us preemie parents have definitely the same feeling of hopelessness. For me, with my 27 weeker it was very touch and go at first. 3 surgeries later and 6 hospitalizations later she's about to turn 1. She's in OT, about to start PT see a nuero, and an ortho for some moderate delays and possibly CP. I know this is not the end of the world, but the certanties are still unknown, and the dream hasn't been "deminished" so to speak, but it's not what I thought it would be either. Keep in mind this comes from a mom of 3 kids, had 5 pregnancies, my first is high functioning autistic, my middle one is just, fine and our 3rd the micro preemie.

2:27 PM  
Anonymous Sun said...

Her baby was still really young and the whole situation was still new. I bet if you saw her now she would seem completely different.
My son has Down syndrome and I was a complete wreck for the first year. It took a while to let go of the expectations that I had for him before he was born and I definately grieved the loss of those dreams. But once I did that and saw him for the amazing person that he is regardless of whether or not he was considered "normal" then life became good again. I really hope that people who saw me during those first six months don't think that I'll be suffering forever.

3:33 PM  
Blogger Lori said...

anne k-
It wasn't my intention to be harsh, and I'm sorry if it sounded that way. I was simply adding my own personal reflection on the difficulty and perhaps futility in trying to "measure" suffering. It's human nature to want to quantify things, but the longer I live I realize that when we start measuring one person's loss against another we only end up diminishing each individual's personal experience. Loss is hard. Grief stinks. Pain is pain. When it's you in the middle of a horrible situation the fact that someone else's suffering might be greater feels irrelevent.

I believe in this doc's compassion as well and was simply challenging him to try not to put a measure on which experiences of loss are "better" or "worse."

4:37 PM  
Anonymous Kelly said...

When our first was so early and so sick and the outlook so bleak, the biggest blessing I had was the change in perspective. I went from having the typical parental expectations (he'll sit at x months, he'll be a hellion as a teen, he'll maybe go to college) to having absolutely zero expectations. It was honestly the best thing to happen to me as a person because every single little improvement he made was a miracle and wondrous. I value his life so much more because of it, and am grateful that I don't have those pre-conceived expectations to weigh down our relationship. I can accept him for who he is right now and love that person with all my heart, not worrying a titch about the future.
I truely hope your mother can get to that place. I wish it for all parents, but most for those with a different path to walk.

4:46 PM  
Anonymous Bugs said...

Kelly said it so well that if you insert

When we found out prenatally that our 6th child would be born with Down syndrome... the biggest blessing I had was the change in perspective. I went from having the typical parental expectations (he'll sit at x months, he'll be a hellion as a teen, he'll maybe go to college) to having absolutely zero expectations. It was honestly the best thing to happen to me as a person because every single little improvement he made was a miracle and wondrous. I value his life so much more because of it, and am grateful that I don't have those pre-conceived expectations to weigh down our relationship. I can accept him for who he is right now and love that person with all my heart, not worrying a titch about the future.
I truely hope your mother can get to that place. I wish it for all parents, but most for those with a different path to walk.

it is something I or any one of my friends could have written
Thanks Kelly!

5:39 PM  
Anonymous Bugs said...

OOOPS. I wanted to add...I do not want or need anyones sympathy. Really I don't. I am truly blessed to be his mom as well as mom to my other children. He is a gift, not a curse or a burden...there really is nothing to feel sorry about! I wish everyone could have the clarity of heart I know now because of my son.

5:44 PM  
Anonymous Karen said...

I am a family doc whose youngest son (now 8 months old) was diagnosed at birth with Corneila de Lange syndrome, a condition with some similarities to Rubinstein-Taybi. I agree, it was very hard to hear about his diagnosis and prognosis. I hold no illusions about what his long-term level of functioning is likely to be. So, as some of the commenters have already said, my husband and I had to let go of the "normal child" dream. That was the hard part. But it wasn't so hard to love the son we DID have. We delight in every small gain he makes. We'll deal with the challenges as they come, just as we will with our two "typical" children. Life goes on, and things are definitely not dreary in our household!

9:48 PM  
Blogger The Preemie Experiment said...

I think it depends on the degree of disability that ones preemie ends up with. Yes, there may be hope in the begining but reality comes with time. But, we all move on and come to a level of acceptance. That level is different for everyone. Over the years many people have said to us statements like, "There is no way I could handle what you did." But that is simply not true. We handle it and move on.

As far as divorce... there are so many preemie parents that end up separated or divorced. It's an enormous strain on your daily life. Displaced anger is very damaging. Hubby and I are still married (going on 13 years) but there sure were some rocky times in those years after our daughter was born.

9:57 PM  
Blogger neonataldoc said...

Lori: Don't worry, I didn't think you were harsh, and you make a good point. More later.

10:32 PM  
Anonymous Amanda said...

Another Down Syndrome Mom here, but not a "politically correct" one, :)
Ummm....I see where you're coming from. Some of us "parents" take the journey that our special kids ride in stride, racing to the finish line with gusto, and some of us, well we must stop for a break.
Some of us become the advocates, because IMO, learning what we could, making a particular "syndrome" tolerable assuming we were sad at birth; gives us reason, hope, and stability...Plus, it is closure for a life we did not expect, and in the beginning, most of us would not have wished for. I think most of the parents who are offended are the advocate type, the ones who use their voice for their own therapy. It is a rough ride, and any parent of a special needs child who disagrees, is full of it, in my opinion...Which, you can't disagree too much because my almost two year old does have DS.
I, however, am not the advocate type- I reserve my voice and opinion for when it is most needed, and when it will make the most difference. I stand up for my son's rights, I try to educate anyone I can, I have learned the valuable lessons of sympathy, respect, courage, love, and life...However, sometimes I too am battle worn...And I appreciate that you are able to have the intuition to notice that about people....What you do about it, and how you aim to "help" the person with that look in their eyes is up to you, but sometimes, an unspoken acceptance thru your eyes should be enough to educated adults.

12:55 AM  
Anonymous been there - done that said...

"Yes, there may be hope in the begining but reality comes with time."

That comment hits the nail squarely on the head. Whatever the abnormal genetic diagnosis may be (from Down syndrome to Rubinstein-Taybi, and everything in between and on each side), the reality definitely DOES come with time. The early years (where there are struggles buffered by gains) can actually be enjoyable for many parents and families. Then come the later years (which, depending on the condition, can be at a few years or a few decades of age. But, they will surely come. You can count on it). Then, the much bigger ticket issues and daily grind become the "norm" (and, believe me, it is definitely a grind). There are few-to-none of the advancements and fun milestones to anticipate. For many, it becomes a going-through-the-motions type existence. Of course, the children are loved. There's no doubt about that. However, the toll a special needs child and their mental/physical issues take on a mother, father, siblings, and so on cannot be ignored. They are very real and often extremely tiring.

Thank you, Neonatal Doc, for pointing this out without candy coating it.

7:51 AM  
Blogger terri w/2 said...

I disagree with Neonatal Doc on this one. Parents of micropreemies often have false hope that their child will be normal, (thanks to the media miracle baby stories) and then throughout the years, as their child becomes more and more delayed and FINALLY diagnosed with CP, autism, etc. as many of them do, it is a relief. Finally, finally, the "enemy" is named. It is the unknown that is most difficult to deal with, and parents of extremely preterm infants, especially those with IVH's hold their breath for years (sometimes the dx of CP, MR, etc is earlier in the most severe, but typically if the child has a disability, the child becomes more disabled with age - the EPICure study showed this).

9:47 AM  
Anonymous Helen Harrison said...

Neonatal Doc Wrote:

"With most of the premies there is at least the hope that the child might catch up and become normal."

On the other hand: One mother on the preemie child list told of taking her 25-weeker to a neurologist hoping to find an explanation for the child's strange behavior and poor development.

After the MRI, she asked the neuro, "Does my son have brain damage?"

The neurologist responded: "Of course he has brain damage; with preemies, that's a 'given.' The only real question is: How *bad* is the damage?"

Recent studies involving baboon fetuses delivered prematurely by researchers from healthy baboon pregnancies (and subjected to NICU care) show that premature delivery "per se" results in brain damage. This basic damage then worsens with each day the baboon baby spends on mechanical ventilation.

[Loeliger et al. _Pediatrics_2006;118:1640-1653.]

Researchers have also shown that preterm infants lose one IQ point for every day spent on TPN (hyperalimentation). This is due to the neurotoxicity of aluminum, a contaminant of the calcium supplement in TPN.

[Bishop et al. "Aluminum Neurotoxicity in Preterm Infants Receiving Intravenous-Feeding Solutions" _New England Journal of Medicine_ 1997;336:1557-61]

A few units now mix their own TPN to remove the aluminum, but I am told this is not easy to do nor is it a widespread practice.

Overall, 75% of very preterm infants (born <32 weeks) have a brain damage score of 8 or higher on a scale that goes up to 15, according to Dr. Terrie Inder's presentation at Hot Topics in Neonatology a month ago.

On a personal note: Because our son looked so good early on, we spent his first years doing intensive work and therapy with him. He learned to read (with his one good eye) before he learned to walk at 18 months (corrected), and he could memorize anything in any language!

We delighted in these skills of his, not realizing that they were all part of a "savant" syndrome typical of children with autism.

He even fooled the psychologists at the follow-up clinic, who said that he was intellectually advanced at age 3.

But our son soon hit his "biological" wall. At age 31 he has an IQ of 59, and still functions, in many ways, like a 3 year old.

Realizing that he had "hit the wall" of his potential was difficult for us, but also oddly liberating. The certainties of disability were, for us, easier to handle than the uncertainties and ambiguities.

My parents used to have a refrigerator magnet that read: "Now that I've given up hope, I feel so much better!"
And we did.

We can even make the case that our son's severity of disbility is, in some ways, a "blessing." My husband and I often refer to our son's retardation as "God's lobotomy." We are "happy" that Ed is too retarded to realize he is retarded, and so he cannot suffer from that knowledge as so many other less-severely-disabled preemies do.

So many ironies and paradoxes!

1:24 PM  
Anonymous Chris and Vic said...

So, Neonatal Doc, is this final paragraph what you actually said to the mom? Especially, asking her if and giving an example of how she could adjust her expectations?

How DO you warn someone who already has a suspicion of it, that their future holds sadness and suffering? And IF you warn them that their child (and they, themselves) will have difficulties, it is almost as though you have to have some words of comfort (not hope) and support and creative ideas of how they can cope. Such as "Have you thought about the "Rubenstein Taybi support group?" -- if there is such a group. Or, do you have a belief system or a spirituality that will help you adjust? Would it help for you to learn more about this condition? (in the belief that knowledge dispells fear)

When a baby in the NICU has taken a bad turn, and the parents are called to the bedside, I sometimes ask/suggest "Is there other family (or friends) that is coming to be with you? Can I call the chaplain to stand beside you here at the bedside?"

Last, false hope is worse than no hope. Don't offer it, unless you are absolutely sure that the preemie in question WILL catch up. I think many parents are now beginning to realize that this statement about catching up is a cruel lie. Rather, I would like to hear, "Don't get ahead of yourself. Just do one day at a time. Enjoy your baby and try not to anticipate either problems or no-problems. None of us really knows the future anyway. Try to keep yourself open."
Chris and Vic (CAK)

6:49 PM  
Blogger Dream Mom said...

My own Dear Son was the product of a full term birth, with perfectly normal prenatal testing. We had no history of disabilities on either side, no history of epilepsy, nothing.

We had no idea of what he had, until a few years ago, when they discovered the ARX gene mutation. While normally x-linked, I was tested and didn't have the mutation.

What I have learned though, is that you can't have it all. Nobody wins at everything in life. I watch other women get pregnant and it's all so easy. They always give birth to normal children; I never have met anyone that didn't.

As the mother of a severely disabled child, my experience has certainly been different and there are times when I wish things were different for my son; certainly I wish it were easier for him. Overall, I don't think my experience as a mother is any less rewarding and perhaps it's more rewarding. I don't think about it that much. I thoroughly enjoy motherhood and have no doubt my own Dear Son is the perfect child for me.

What I will miss though is being a Grandmother. That will never happen. I would have loved to be a Grandmother and to see my Dear Son's children.

I also worry about when I get older, the lonliness. There will be no children to visit on the holidays or any other time and no children to visit me. Holidays are about family and I won't have any.

But I also have something that other women may not have. Not everyone has a child and I happen to have the most beautiful son in the world. His disabilities are part of who he is as are his abilities. I could not love him any more or less if he were any different or if his IQ were higher or lower or if he was able to walk or talk, etc. I would like it if he could do those things, but he can't and that's o.k. And when my son smiles, well, nothing else really ever matters. Ever.

8:33 PM  
Anonymous Helen Harrison said...

To Chris and Vic:

I would add to your list of ways to help a new mother (and father) in this situation -- intense physical exercise.

I strongly advise *anyone* in this situation to link up with a gym or personal trainer to help burn off the inevitable excess adrenaline.

For me it was jumping rope on the many days I was housebound, and on the days when it was possible, running free on the trails in the Berkeley Hills.

Other than that, we need quality, reliable respite care, and, time off -- say a month's paid vacation in Hawaii or the South of France each year. ;-)

The consequences of caregiving for a disabled child are life-threatening for us and for our husbands, as well.

I quote from the the Jan. 29, 2007 issue of Time magazine p.82:

"Scientists have long suspected that unremitting stress does damage to the immune system, but they weren't sure how. Then two years ago, researchers at the University of California, San Francisco, looked at white blood cells from a group of mothers whose children suffered from chronic disorders like autism or cerebral palsy. The investigators found clear signs of accelerated aging in those study subjects who had cared the longest for children with disabilities or who reported the least control over their lives.

The changes took place in microscopic structures called telomeres, which are often compared to the plastic wrappers on the ends of shoelaces and which keep the chromosomes from shredding. As a general rule the youngest cells boast the longest telomeres. But telomeres in the more stressed-out moms were significantly shorter than those of their counterparts, making them, from a genetic point of view, anywhere from nine to 17 years older than their chronological age."

10:59 PM  
Blogger neonataldoc said...

Thanks, all. I learn so much from hearing the thoughts and experiences of so many parents.

Lori, you have a point. Why do we sometimes try to compare suffering? I don't know - the human mind makes us think in strange ways sometimes.

Dreammom, another beautifully written thought.

It's not really surprising that stress can shorten our life span, is it? Isn't that one of those things that our grandparents could have told us, but we didn't prove it until recently? For what it's worth, frequently changing sleep times from days to nights and vice versa can also have detrimental effects on your life span. Take that, all you NICU nurses and docs.

4:44 PM  
Anonymous Anonymous said...

Been there done that:
Are you the parent of a child with special needs? Because if not you cannot know what it is like for these families. The parents of adults I know with Down syndrome do not see their lives as a "daily grind". They see their sons and daughters as valuable members of their communities and families whose lives are worth living.

My son has Down syndrome...yes, I grieved at first. But I can tell you now that our lives are anything but dreary. I am not ignorant about the challenges the future may hold...but I am confident in the ability of our family to meet those needs, and like another commenter, I certainly don't need anyone's pity.

1:51 PM  
Anonymous beentheredonethat said...

"Are you the parent of a child with special needs?"

Indeed, I am (hence my chosen nickname). How old is your child with Down syndrome? If he is still a little one, then you can't really comment on what the years will bring. They're still an unknown for you and many like you. That mystery has been revealed for others. I do realize that no two children, families, or experiences will be the same, as there are vast and numerous variables. Yet, there are some similarities that I've noticed again and again, over time. So, as you pointed out, one truly cannot know about such things if they haven't had the experience for themselves. It's wonderful that your friends who are the parents of adult children with Down syndrome don't see their lives as a daily grind, or do they? You, I, and everyone else doesn't really know because we don't live their life behind the public and social persona.

Also, I don't recall stating that I pity you or your child, for that matter. Where did that come from? It's not a matter of pity, really. It's more a matter of calling it like it is in this regard, which I think Neonatal Doc did quite eloquently. Life can be tiring. Life with an adult child who remains emotionally and mentally that of a preschool boy in the body of a grown man adds to the weariness. Admitting it doesn't mean that we love our kids any less. It just means that, for some of us, the more exciting and fun advancements are in the distant past. We're human. We have days where we cope better than others. It is what it is, and we definitely do our best.

10:34 PM  
Anonymous Helen Harrison said...

To "been there done that":

Thank you for saying what you said so eloquently and so honestly!

I'm 31 years into this with my preemie, and I have many like-minded friends with Down Syndrome children. In my extended family I am almost 50 years into it with an Asperger's Syndrome brother.

This is a long tough road, and it is sad that saying so in public seems to threaten the coping mechanisms of so many new families and the professionals that purport to serve them.

11:07 PM  
Anonymous Claire said...

I don't believe anyone has said anything other than that disability is a long tough road. I believe the question at issue has been whether accepting that as a fact should influence decisions on resuscitation. Some of us march down that road relatively cheerfully, do not believe our journey is pointless and want to say so, want to be heard to say so, so that decisions can be at least as fully informed as possible. Peronally, I cannot bear that only one side of the picture should be visible. I am not going to tell anyone that my way is the only way - I don't believe that heavy emphasis on the worst cases is particularly helpful either. Helen Harrison's relentless negativity pains me. She believes that she possesses The Truth, the rest of us have "coping strategies". I believe we should all find our own road, and that these decisions are highly personal. The decision not to resuscitate requires some coping strategies too, and does not necessarily guarantee that one enters the land of milk and honey.

8:15 AM  
Anonymous Helen Harrison said...

To Claire:

We *all* have coping strategies. Mine is to speak the truth fully and openly -- and *without* capital letters -- about my son and our life; about the realities of prematurity; about sorrows and suffering that are too frequently covered up; and to support the decisions of others who chose not to make their children, or themselves, travel this long tough road.

What I do *not* need in order to cope is the strategy of making a virtue of necessity, then using that "virtue" as a platform from which to insult others.

You accuse me of "relentless negativity" -- a pose that you have invented for me, which you then attack.

Would it help to tell you that my son and I begin and end each day with a rousing chorus of Schiller's and Beethoven's "Ode to Joy"? (in German and in English -- and, no, I'm not being sarcastic, we really do this)

Our lives are as positive and joyful as we can make them, but it's hard to be positive when Ed is in pain, or in the hospital, or otherwise suffering -- and that is far too often. And our situation is not extreme or unusual.

Many people find strength and support in the full and honest acknowledgment of the difficulties we and our children face.

We do not find comfort in the denial tactics you have previously suggested (eg, not to mention words like "schizophrenia" even when they fit our children's behavior).

We do not feel the need to insist that others go through what we have gone through in order to somehow "validate" the worth of our children or the purpose of our long difficult journey.

2:47 PM  
Anonymous beentheredonethat said...

Bravo, Helen! You're right. Denial will only last so long and the stark realities will come. I hope and pray for those who have danced around the periphery of what they didn't want to utter out loud. I hope that it doesn't blind-side and overwhelm them. I really do.

There are good times. There are bad times. That's true of life with or without disabilities. It's just that, for some, things are much more challenging than others. It's not always great. Sometimes the glass really is half empty and the sky is partly cloudy. I'm not afraid to admit it, because admitting it doesn't dimiinish the deepest love that I have for my son. I'm also not one of the crew who swears that they wouldn't change their child, even if they could. I'd give my own life to have my son be typical. End of story.

5:00 PM  
Anonymous Claire said...

Helen, nothing will convince me you speak THE truth. You speak your truth, insist that others should accept it.I speak mine, but I do not think it should be universally applicable. Yes, I do object to being asked to accept schizophrenia as part of the picture of everyday disabled folks, as I object to disabled people being held responsible for global warming, ruining the education system and oh, I forget the others - extreme poverty, premature ageing, I seem to remember - I'm sure there are - or will be - more. You are fond of accusing me of distortion - pots and kettles come to mind. You take your wonderful, joyeous(?) world view, secure in your conviction, and I'll just muddle along with mine. OK?

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