How we found out

This is the second in a week-long series of posts on being  a parent of a child with a severe multiple disabilities.

This is how we found out that our second son (whom I will call James) has severe disabilities.

The first clue that anything was not absolutely perfect came about a month before the baby was due. Before then, I had fretted over every last bit of information I could get about the child in my belly. Just as I had done with my oldest son (whom I will call Thomas) in and out of the womb, and who of course is perfectly healthy. I now see that kind of crazed worry, where a low-grade fever somehow morphs into leukemia or whatever in parental fevered dreams, is a sort of leisure activity. It’s a privilege of those with nothing real to worry about, and I try to remember that when I fall into it again now.

My belly was huge. Like, crazy huge. People would stop and stare and point at me on the street. My OB told me to eat less, but I told him I really had no appetite and wasn’t eating much. I knew he didn’t believe me. He sent me to a radiologist to get an ultrasound at 36 weeks. There were measurements, frowns, other doctors were called in, more measurements, more frowns. They conferred out in the hallway, and my husband and I overheard the phrase “off the charts.” They had me stay there and called my doctor, who informed me that at that point, a month before he was due, my baby weighed approximately 9 pounds (give or take a pound) and his head was already 10 cm in diameter. In short, in a month’s time, he wouldn’t fit out the usual path and I would need a C-section. Weird, because my first kid was a 7-pounder and is on now the very small side.

I got the crazed fevered parent worry, and researched genetic disorders that caused big babies. The most common one I found happened in 1 in 5000 births, and I reassured myself with that number. Or tried to.

All seemed well to me at the birth itself, but there are in retrospect a series of what I now know to be bad signs. There was an enormous amount of amniotic fluid, which seemed kind of funny to my husband and me but is a sign of neurological problems (the baby should have been swallowing more of it). They took James out, and he looked…strange. A giant blue Buddha with very wide-set Asian looking eyes, and as hairy and thick-necked as a football player. 11 pounds. He did not cry until he had repeated slappings, and when he did, he sounded for all the world exactly like a cat. Which I thought was cute and sort of funny. Giant baby with a teensy cry. My husband says he knew right away when he saw him that something was not typical. I did not know this. Is he okay? I asked. Yes, he’s fine! they said.

“Does anyone in your family have webbed toes?” asked the nurse. No, we replied. “Take a look at all this!” she said, repeatedly, grabbing excess skin on the back of his neck. I thought she was affectionately making fun of his fat. I now realize she was dog-whistling to the other medical professionals that something was not right. Webbed toes and webbed neck are soft signs of genetic disorders (a soft sign is a feature that is positively correlated with genetic disorders, but that some people without genetic disorders also have). Actually, it turns out he doesn’t have a webbed neck – he was just very bloated when born.

To this day, once in a long while my husband will turn to me out of the blue and say, “Does anyone in your family have webbed toes?”

We held James for two hours while they got our recovery room ready. As we entered our room, a nurse looked at James and frowned. “I don’t like his color. I think he needs a little oxygen. I’m going to take him down to the NICU.” I handed him over, and that was the last time I would hold him unattached to wires and machines, not surrounded by nurses, for the next 106 days (but who’s counting?).

Oddly, always the worrier, I was not worried. Which is, I have come to realize, a strange rule of thumb. If there is something genuine to be worried about, I don’t totally freak out. I had read that C-section babies often need supplemental oxygen. In the meantime, my parents and mother-in-law arrived, and we waited for James to be returned to us.

A neonatologist entered the room. Without asking the grandparents to leave (for which I will never ever forgive her) she told us that our son might have Down syndrome. “Dear God,” said my mother-in-law, who has both had a hard life and has a very depressive personality, burying her face in her hands. “He does not have Down syndrome,” I said. He had passed his nuchal translucency screening with flying colors. And although he was slightly odd-looking, he certainly did not look like he had Down syndrome, I informed the doctor. She agreed, but said he had several other soft signs: the webbed toes, a single palmar crease, an undersized jaw (which interestingly seems to have mostly gone away). Then she said to put all our worries about genetic syndromes “on the back burner” (yeah, right) because he was having fairly serious breathing problems.

Recovering from surgery, I didn’t see him for the next 24 hours. Finally, a kind nurse insisted on a wheelchair so I could be with him. The NICU nurses, whom I assumed would be warm and welcoming and soothing, were anything but. And remained so. They admonished the nurse for bringing in the clunky wheelchair. Unwelcome and unable to hold my baby, I just sat. James lay perfectly still and fat and seemingly bound with wires on the table. I started to cry quietly. A nurse sharply told me to stop crying, that I would upset the baby and negatively affect his health. Another nurse looked over my shoulder at him murmuring and shaking her head, “He’s so sick. So sick.”

I pressed doctors for information about his genetic disorder, and they were rightly evasive. They also told me they weren’t thinking about that and neither should I. They were focused on the fact that he was unable to breathe on his own. But I wasn’t processing that. A brain ultrasound showed mildly enlarged ventricles, a doctor who was visibly shaking told us. What did that mean, we asked? She was evasive. But she, like so many others, did not want to be the one who had to be the bearer of bad news. She would let someone else do it. Another doctor pointed out he was “floppy.” Aren’t all newborns floppy? I asked. He also had a high-arched palate. Another sign of a genetic syndrome. Bad news just kept coming and coming.

They told us that he had Persistent Pulmonary Hypertension of the Newborn, which explained his oxygen dependency. Basically, in utero, the blood bypasses the lungs as the baby gets oxygen from its mother. When born, the blood then begins to get oxygen from the lungs. With PPHN, the switch doesn’t occur and the blood continues to bypass the lungs. 15% of babies who have it die, which was why they were telling me they were more concerned about his breathing at that moment than the genetic disorder.

We got our cell signal working well enough to google his soft signs for a genetic syndrome. The first thing that popped up was Ridiculously Rare syndrome, which is what I will call the syndrome he indeed has. Forget 1 in 5000. This is 1 in 50,000. It mentioned that the kind of cry he had should be considered diagnostic. I went immediately to a neonatologist and asked if he had it. “It’s a possibility,” she said. However, it’s associated with very low birthweight and small head. So that counted against it. She wrote down a list of four possible syndromes that they had brainstormed while waiting for results of genetic tests. One of them was Down syndrome, another was Ridiculously Rare syndrome. She pointed to Ridiculously Rare syndrome. “That’s the one you don’t want him to have.” She told us he would not have a normal life.

Another doctor barreled in our room a few minutes later and said the first doctor had no business telling us any of that – we didn’t know anything at this point. Which, in retrospect was true. But we did know. There was just too much wrong. That night, we knew. My husband and I clung to each other and wept that whole  night long. I whispered to him that this would be the worst night of it, and hoped I was right. I thought about how my oldest son’s life had changed, how all our lives had changed, everything had changed. I told my husband if he left, I’d understand. Don’t be ridiculous, he said. I’m not f–king leaving. (He is not a mincer of words.)

I was discharged from the hospital. This should be the big moment. You are in a wheelchair with a baby in a carrier on your lap grinning for all the world while your husband brings the car around. Yet I was waiting baby-less. The car ride home was devastating. I leaned my head against the car window and let it bounce against the glass. When I arrived home, there was a package addressed to me. I opened it. It was a picture frame with blue ribbon and little footprints that said “Baby’s First Photo.” I started to cry. Thomas, my almost-two-year-old, who had never before seen me cry, started screaming his head off like a woman in a 1950s horror movie. I got myself under control and promised myself not to cry in front of him again.

James was transferred to a more advanced NICU. The nurses were kinder here. An initial MRI showed that he had the brain of a 34 week fetus. But he started to develop. He made eye contact and social smiled at five weeks – earlier than my oldest son. He brought his hands to midline. His need for supplemental oxygen reduced. There were bad signs, too. He appeared to have moderate to severe hearing loss, although no one knew if that was because of fluid build-up or sensorineural. He had metabolic issues. He had a small and floppy trachea. He had outrageous reflux. He had been fed through a nasal feeding tube, and a doctor suggested a gastrostomy feeding tube and a Nissen fundoplication. I didn’t research it, or I might have suggested waiting. I asked if the anesthesia could affect his brain at that age, and was told no. So I consented.

After the surgery, he was supposed to be on a ventilator for a week. Which was expected. But then it was two weeks. Which was not expected. He continued to require supplemental oxygen and was not able to respond to the environment at all after the surgery. He seemed basically permanently nonconscious.

The genetic results came in. Ridiculously Rare syndrome, but that was not all. He had a very large chromosomal deletion that causes Ridiculously Rare syndrome (severity of the syndrome correlates with size of deletion). Ridiculously Rare syndrome results in moderate to profound cognitive and psychomotor disability by itself. But. He also had another much much rarer chromosomal abnormality – a partial duplication of another of his chromosomes. There were only 40 described cases, all of which involved larger duplications than James’s. But in all those cases, the prognosis was even worse than Ridiculously Rare syndrome. All had profound cognitive disability and early death. So. He had two different syndromes, one which definitely caused moderate to profound disability, and another which maybe caused profound, maybe not.

To this day, I don’t know how this time affected Thomas. I know it has, and deeply. But I wonder what he would have been like had this not happened. We always joked about what a happy baby he was. He is a wonderful, fascinating, intense kid. But I would no longer call him happy.

A second MRI was taken of James. He showed no brain growth from the first MRI and his optic nerves were one quarter the size of normal. He will be pretty much blind, the doctor said. He also can’t hear much, I said. Will he walk and talk? I asked. No. He probably will not even respond to the environment. I looked out the window at the sun glaring on the people below, standing next to my giant motionless Buddha-baby among all the teeny loose-skinned preemies. I pictured him in a room in our house, drooling and completely unresponsive.

A doctor sat us down and told us to institutionalize him. It breaks my heart to admit that it seemed like the best idea at the time.

All the social smiling, all the development was gone. He would suddenly stop breathing for no apparent reason and need oxygen bagging. We received a phone call at 3 am. I assumed the worst. May I please be forgiven that a part of me wished for the worst. It was a doctor saying that he almost died. That his oxygen saturation reached 20% but he had been revived by all the work of the NICU team.

I have mentioned before that it was while in the NICU that my husband suddenly leaned over and whispered a completely offensive and inappropriate joke to me. Which made the situation infinitely better, infinitely more survivable.

Finally, breathing on his own, he was ready to come home. When I was told this, though, I cried because I did not want him to come home. I did not think we could handle it. We were taught how to operate his g-tube, how to monitor his blood oxygen levels, how to administer supplemental oxygen, how to suction secretions. With all this equipment and an unresponsive baby, he was sent home. I was terrified every morning that I would wake to find he had died in the night.

For close to a year, every time I saw a baby or a pregnant woman, I would have to avert my eyes. To this day, if I see two healthy children about the ages of my oldest two, it pains me just a little.

Then came realization number two. Things were not so bleak as they looked.

Not three days after we were home, we noticed he smiled when we kissed him. A few days after that we noticed that his eyes followed us across the room. Then he would smile at us when we smiled at him.

Then came the slow dribble of unexpected accomplishments. The day he planted a wet sloppy one (alas, emphasis on wet and sloppy) every time we said “Kiss!” and we knew he actually understood a word. The day we realized he was asking for Twinkle, Twinkle by making a sign. The day we realized he was trying to say night-night. The day he finally, finally sat up by himself. The day he started cracking up because the dog was chasing her tail. And the gradual realizations. That he can indeed see. That with ear tubes, he can hear. That he knows who we are and prefers us to other people. That he is affectionate and happy and social. That he does not like to be told what to do. That once he could scooch-crawl, he wanted to explore everything and anything. That he is frighteningly fearless, and careens in his gait-trainer toward the street at lightning speed. That he is no passive vessel, but an active, engaged agent. That I love him and can’t imagine the world without him and he has changed my life and values and sense of purpose.


Rose Woodhouse

Elizabeth Picciuto was born and reared on Long Island, and, as was the custom for the time and place, got a PhD in philosophy. She freelances, mainly about disability, but once in a while about yeti. Mother to three children, one of whom is disabled, two of whom have brown eyes, three of whom are reasonable cute, you do not want to get her started talking about gardening.


  1. Rose – That was a beautiful story, beautifully written.

    Many of us have a day in our lives which changes everything. But I don’t know if I could have borne up the torrent of ambiguity and bad news that you did with the grace and love that you have.

    Thank you for sharing this.

  2. Then came realization number two. Things were not so bleak as they looked.

    The awakening. What a wonderful thing, thank you.

  3. 1) As others have already said, this was beautifully written.

    2) I wish I could read this and not feel as my primary reaction waves of intense rage at how covered with shame so many members of my profession emerged from their dealings with you and your family. To me, your story reads like a litany of failures on their part. I know it’s not really about that, and I wish I could remove that prism from my eyes when I read it. But still that feeling persists, of blinding anger at how much better you should have been treated, and weren’t.

    • We definitely had a couple of doozies. Many were really fine. The nurses at the second NICU were fine, a couple of doctors were fine, too. We never had a relationship with a doctor, nurse, chaplain, social worker, or whatever that really had a sense of closeness and trust.

  4. Now that I’ve dried my eyes…

    Even beyond how beautiful and moving this was, what I see is a story of how strength and love turned what began as a tragedy into a source of joy. Thank you for letting us share that.

  5. Thank you, Rose, for this. The combination of fearlessness and selfawareness with which you look at things: wow. Especially the last two sentences, not because it’s a happy ending, but … because.

    Ditto Jaybird on how humbling this is – I don’t know that I could have done what you and your husband do and will do. My second daughter (18 now) is (more accurately, I think, was) mildly autistic and that was hard enough.

    I also feel for Thomas. My older daughter (two years older, gifted) has been powerfully affected by the demands put on her at times to put herself aside to take care of her sister. On the plus side, it’s certainly helped her be empathetic and compassionate. On the minus side, it’s made her think she is a parent when she neither is nor is ready to be.

    • I am always scared for the future with Thomas. One of my posts this week will be about him.

  6. Rose, this is one of the best and most moving blog posts I’ve ever read. Thank you.

    I hope you’ve considered a book.

  7. Thanks for sharing your story, Rose.

    I wonder at how much sudden improvement you noticed in your son was due to (what I refer to as) Old-Fashioned Medicine. Being in a caring home, in a safe environment, stability and freedom, love and attention, with a caring family around (and not the sterile world of a hospital) contributed to his improvements. Even things that might not seem important: for example, your home smells like you and your family. We are, after all, animals with 5 senses. There is a litany of things I can think of that would contribute. It is striking to hear about the change your son experienced after coming home. I hope for the continued best, for you and your entire family. The force is strong with this one.

    • We have definitely thought about that. We were only able to be with him maybe 1-3 hours a day in the NICU. (The commute was over an hour each way, we had another kid, etc.) That makes a lot of time he was just left alone. With beeping and alarms and fluorescent lights and no affectionate human touch.

  8. Wow. I’d known the basic outline of the story for a while now, but this was incredibly powerful and very well-done as a piece of writing. Thank you for sharing it.

  9. Rose,

    I’m so sorry to hear how you were treated, especially by the NICU nurses. As if you probably didn’t already feel out on an island by your lonesome, dealing with the unimaginable.

    And, as others have pointed out, I’m not sure I’d have had it in me to do what you’ve done.

    Thanks for sharing this.

  10. And the picture — webbed baby toes! I would nibble on them if I could!

    • I actually totally adore his toes! We call them his “together toes.”

      • They are together, and they’re beautiful. I’m glad you’ll be writing about your older child, too. Because that’s a lesson that’s more difficult to extract, isn’t it?

        And I don’t know how you find it to write about your children this way at all; I’ve tried, I do a bit, but I always think forward, and how they might see my words looking back; feel their privacy violated.

        I worry on privacy, yet there’s an army of youth out there now with parent-curated facebook timelines they’ll never be able to leave behind. Sigh. What we unwittingly do to our children (and I don’t mean you, here, I’m admiring how you’ve found a way to write about them that’s respectful of privacy, not spiteful of it. That’s difficult.)

        • My fiances’s sister has two children, and she and her husband are very protective of their privacy on facebook, one of the many reasons for which I admire them.

        • Well, I write under a pseudonym, and use pseudonyms for them, so I guess I’m not too too worried about it. The only people whom I know personally (whom I didn’t meet through the site) who knows who I am are Russell and my husband. I’d be far more circumspect if I used my own name. I use a fake name for the syndrome to prevent anyone googling it from finding me.

          James won’t be able to conceive of what I write looking back. So I’m a little less mindful of it with him than the others.

          I would appreciate it if anyone thinks I have violated their privacy.

          • I didn’t mean to imply you were; but to admire that you do write about your children when (because of their privacy) it is difficult. And to notice that so many parents don’t even consider their children’s privacy with their web activities.

            No worries Rose, you’re doing this right, sharing and protecting is a tricky balance.

  11. I know it sounds cliche, but I teared up a bit, too (in addition to some other commenters here), which I almost never do when I read something, especially when it’s a blog post.

    I have nothing to add other than that I think this is a great post.

  12. Thank you so much for sharing this. There is great beauty in your honesty and experience. Behold that moment of awakening, a lesson for us all. Go well with all that your son and your family do.

  13. Thank you for sharing this story, Rose.
    I can’t think of anything pithy to say, I seriously hope this gets widely read and shared.

  14. So raw and honest, and beautiful. You have been to the cliff’s edge in a foreign land.

  15. Terrible and wonderful. Our close friends had a daughter with trisomy 18 who died after a little under a year. Every time I complain about some minor inconvenience our perfectly healthy 15 month old puts us through, I think of them and feel very spoiled and lucky. Having children takes a lot of courage. My very best thoughts, prayers and wishes to your family, Rose.

    • So sorry to hear about your friends. Trisomy 18 is rough. When we complain about James or our typical kids, we feel spoiled and lucky compared to those (some of whom we now know) whose child is degenerating, or has major aggression issues, or whose child remained basically non-responsive.

      We have become friends with a couple nearby who also have three kids – one who has special needs, two who are typical. One is exactly the age of our youngest. We socialize with them a good amount. Their daughter is the same age as our son and in many ways like him – tube fed, requires a gait trainer to get around, an initial few months in the NICU. But two big differences: she understands no language whatsoever and they have no idea what caused her issues. She is a twin. Her twin is perfectly healthy. She has dysmorphic features and apparently a genetic disorder but nothing shows up on a microarray. They are far more depressed than we are. Some of that may be a function of personality. But it has made me realize how much it means that I know what caused my kid’s problems, that I am facebook friends with syndrome parents, that I go to the yearly syndrome conference, and that I can ask my kid simple questions and he will respond.

  16. Wow. I’m with the others here, having to dry my eyes. Powerful stuff.

    I heard an interesting piece on NPR yesterday that mentioned a book, can’t remember the title or author, but it was something like, “Loving Holland”. Maybe you’re familiar with it. The idea being you paid your money, got on a plane, and were looking forward to a wonderful time in Italy. Then the plane lands and you find yourself in Holland instead. At first you’re really disappointed in the change in destination, but eventually you look around and go, “Hey, look! Tulips!” Holland isn’t Italy, but it’s nice, too.

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