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.