MERMAID

Many nights, the mermaid, she stood by the open window, looking up through the dark blue water, and watching the fish as they splashed about with their fins and tails. She could see the moon and stars shining faintly; but through the water they looked larger than they do to our eyes. When something like a black cloud passed between her and them, she knew that it was either a whale swimming over her head, or a ship full of human beings, who never imagined that a pretty little mermaid was standing beneath them, holding out her white hands towards the keel of their ship.

—HANS CHRISTIAN ANDERSEN, The Little Mermaid

Before we left the hospital Pat tried to speak to the neurologist, but she was so weary from the morning’s drama that she advised him to research the disease for himself. An internet search would reveal what a horror show MLD is: imagine ALS and Alzheimer’s disease having a monstrous offspring, and that will give you an idea of MLD.

A child with MLD appears healthy at birth, but by the age of two the brain’s white matter (or myelin) starts to disintegrate because the child has a mutation on the ARSA gene that makes it impossible to produce an enzyme called arylsulfatase A. This enzyme is crucial for the brain and central nervous system’s healthy development. Now we had an explanation for why Cal, whom we’d nicknamed Happy Feet because she was always in motion, could be losing the capacity to control her body. Suddenly her inability to play the drum in music class or color a picture in preschool made sense. One neurologist told us that by the time a child begins to show symptoms, the disease is a wildfire burning out of control. The terrified tech who brought Cal back to the room that Sunday night would have seen the damage to the brain. Anyone could have. A healthy child’s MRI is all grays and blacks, but the MRI of a child with MLD would have glowing white everywhere showing where the myelin was dying.

Children with MLD who can speak say the disease makes it impossible for them to move their legs, control their bladders, or say the words they have in their heads. The damage to the central nervous system causes severe neuropathy, making it feel like their body is on fire from the inside. The disease also causes outbursts of anger and creates difficulty with concentration. Cal’s trouble interacting with peers might have had a genetic cause.

Over the next few months, the online chat forums and Face-book pages I frequented predicted that Cal would lose every milestone—the ability to walk, talk, and feed herself—in a matter of months. She would be paralyzed within the year. In the disease’s final stages, typically by the age of five, patients become blind, experience dementia, and become nonresponsive, eventually falling into a vegetative state. Years later, when I would meet newly diagnosed leukodystrophy patients’ families, they would say that this disease makes them envy parents whose kids have brain tumors. I could not disagree.

Every human being has two copies of about thirty thousand genes, one copy inherited from their mother, the other from their father. Our genes tell our cells which proteins to make. Each protein is a tiny machine, and every cell in our bodies is built out of millions of these little machines working together. Proteins break down food, transport energy, and keep our cells healthy. Cal had inherited two faulty versions of the ARSA gene, and MLD was the result. Pat and I each have a broken ARSA gene and a working one. The working copy prevented us from getting sick. But with two defective copies of the gene, Cal’s body couldn’t produce the single enzyme known as arylsulfatase A, and this was killing her.

Although geneticists believe one in one hundred people is a carrier of the ARSA mutation that causes the disease, the probability of two carriers having a child who inherited two copies of the mutation was smaller than getting struck by lightning. But when it happens, waste cannot be recycled, and fats known as sulfatides accumulate in cells. An abundance of sulfatides in cells that make myelin, the substance that insulates and protects nerves, causes progressive destruction of tissue throughout the brain, spinal cord, and other parts of the nervous system. All these years later it is hard for Pat and me to accept that just as Cal had inherited my curly hair and brown eyes and Pat’s swanlike neck and stubbornness, we had also given her the genes that were killing her.

Many people have heard of cystic fibrosis, sickle cell anemia, and spinal muscular atrophy. What they have in common with MLD is that they are monogenic, caused by one broken gene. Among the thousands of monogenic disorders, lysosomal storage disorders and leukodystrophies represent a particularly terrifying subgroup. Before advancements in genetic testing and MRI technology, MLD and the other leukodystrophies were categorized under the umbrella of mysterious “wasting diseases” that would run through families and strike down children.

Individual types of leukodystrophies are quite rare; some forms of these diseases may impact just a few hundred patients on the planet. Although doctors cannot be certain, since the disease is commonly misdiagnosed as cerebral palsy, MLD is thought to be one of the more common forms of leukodystrophy. Experts guess the disease impacts between one in forty thousand and one in one hundred thousand births. But the numbers are still small. Around the world just 3,600 babies are born with MLD every year.

While MLD impacts just a few thousand children in the world, when you add all the leukodystrophies and related diseases together, they affect one in five thousand births, making them more common than ALS and as common as cystic fibrosis. We would learn later that Tay-Sachs disease, Canavan disease, and adrenoleukodystrophy (ALD) are all leukodystrophies. (ALD, the so-called Lorenzo’s Oil disease, was the subject of the 1992 film by that name starring Susan Sarandon and Nick Nolte.) In the years since Cal’s diagnosis, I have sat on panels for the National Institutes of Health and addressed the Food and Drug Administration about her disease, but back then I refused to learn the name of it or say it out loud.

It was difficult for me to tell people when they asked what was “wrong” with Cal. There was simply no delicate way to talk about how the kid who had once run now seemed afraid of her own body. In those early days I liked to pass for the parent of a healthy child. Pat and I joked about how when people noticed something was wrong or heard Cal was ill, they would cock their head and ask, “How are you doing?” or “How is your daughter?” Pat and I would come to call this “pity chitchat.”

Sometimes they would offer their own experiences with a family member who had been diagnosed with Down syndrome or cerebral palsy, as if a special-needs child were the same as a dying one. It was hard not to yell and scream, but in these moments we tried to impersonate sane, reasonable people when confronted with these well-meaning but idiotic questions. The worst thing was the toxic positivity of people declaring that “doctors are wrong all the time” or “your daughter will get better and beat this.” Or when people compared our tragedy to the time they thought their child had lupus.

Answering people’s questions and explaining Cal’s diagnosis to my elderly parents and colleagues at work made me relive the worst twenty minutes of my life all over again. No one had heard of MLD, and the idea that the finest doctors in the world had no treatment to offer went against everything people assumed about medicine. There were no videos or guides to help us or refer our friends to. “Couldn’t the people at St. Jude’s Hospital for Children help?” “What about Shriners?” Or “Doesn’t Jerry Lewis still do those telethons?” No. Cal did not have cancer or cerebral palsy or muscular dystrophy. There was nothing to offer her.

I tried out several ways to tell people what was wrong with Cal. In the beginning, I would tell them Cal had a disease in the same family as the Lorenzo’s Oil disease. In the 1980s, Lorenzo Odone’s parents, Michaela and Augusto, embarked on a desperate search to find a treatment for their son to clear out the long-chain fatty acids that were accumulating in his body and damaging his brain and central nervous system because of adrenoleukodystrophy.

Lorenzo’s father, an economist with the World Bank, disrupted the staid world of research medicine by teaching himself about neurology and biochemistry in order to find a treatment for the disease. He called out the medical establishment for abandoning rare diseases because developing treatments for them brings neither fame nor fortune. The Odones were truly remarkable patient advocates, inspiring a generation of families to believe that they could play a critical role in driving research.

ALD and MLD are in the same family, but it became problematic to draw the comparison, as people kept wondering why Cal was not getting the oil that was supposed to cure her. The truth of Lorenzo’s Oil and ALD was far more nuanced than the Hollywood version—and Nick Nolte’s Italian accent.

Lorenzo’s Oil is real; many ALD patients use it. However, it is no cure. Some research suggests it might have some benefit in slowing down the onset of the disease, but the oil cannot reverse damage to the brain or central nervous system and is useless once the disease becomes active. And whatever benefits it may or may not provide are limited to children with a different form of leukodystrophy than the one Cal had. A different gene was causing her body to produce insufficient amounts of a different enzyme. It soon became easier just to say that Cal had leukodystrophy, a disease in the same family as Canavan and Tay-Sachs. In the predominantly Jewish Main Line, everyone knew about Canavan and Tay-Sachs. It was a pretty efficient way of getting the curious strangers out of my face.

Nothing shut down a conversation quicker than telling a stranger your kid was dying. I recognized the power of whipping out Cal’s diagnosis and I made no effort to soften the blow by using euphemisms such as “medically complex” and “special needs.” Cal’s diagnosis was destroying our lives, and weaponizing Cal’s tragedy to unsettle the clueless people with healthy children made me feel more in control.

In the weeks and months after the diagnosis I could not sleep. Insomnia was a completely new experience for me. My sister Cathy, who had always been an insomniac, told me it made things worse to try to force myself to sleep. She advised taking walks. It was summer, so I would take strolls through the neighborhood late at night, wearing my pajamas and flip-flops, no bra, and my curly hair wild. I had become a ghost haunting my old life as a Main Line soccer mom. The houses in our neighborhood are old—more than a few were built a century ago—and they are set back from the streets. With their air conditioners running during the summer, no one noticed me on my evening strolls. Secretly I hoped someone would come out to see why I was outside crying; no one ever did. I would imagine all my neighbors at home sleeping, safe in the knowledge that their children, who could run and play and go to school, were sleeping as well. I despised my neighbors for the good fortune of having healthy children and healthy husbands.

After we came home from the hospital, a nun I had left a message for in the chapel named Sister Alice called to check in. Sister Alice had worked at CHOP for thirty years. Her time there had made her a compassionate witness to all manner of suffering and had left her with hope and a faith in miracles. This astounded me. Was Sister a fool or just deluded? How could she have seen hundreds of children die and still believe in God? Even if we did not agree about God and faith and miracles, she understood that the only comfort she could offer was to be a witness to my grief. The only advice she offered was to be skeptical about the doctors’ predictions for Cal. “No one knows what the future holds,” she insisted. “Miracles happen every day.”

If Sister had not been a nun I would have screamed at her and asked her to leave me alone. This hope seemed cruel. Cal was dying. There was nothing left to say or do. What I could not understand back then was that Sister Alice’s notion of miracles was much bigger than saving Cal. For me, a miracle was a cure for Cal, but what Sister Alice knew was that miracles take many forms. They are not always what we imagine or hope for, but they are always possible.1

The next week became a blur of follow-up tests and evaluations before we met the new neurologist who would be overseeing Cal’s care. Cal would have to be fitted for braces and a wheelchair and have her swallowing evaluated for the risk of choking. There were discussions about the need for a feeding tube. At the occupational therapy clinic, the therapist handed me a notebook the size of an Oxford English Dictionary in which to carry Cal’s medical records and the results of her MRIs and other tests.

At one of our doctor’s visits a social worker popped her head in to see how “we are all doing.” For this “we,” she meant Pat and me. Despite my uninterest in talking, the social worker pulled up a chair and pushed in close to speak to us. “So what do you think about at two in the morning?” I suspected this was a tried-and-true question for parents like us, allowing her to evaluate how likely we were to be feeling suicidal or depressed. Pat lied and said he slept soundly. I did not want to lie, but I did not want to reveal how bad it was because sharing the whole truth might get me placed on suicide watch. So I shared what I believed to be an amusing description about my unfolding nervous breakdown: “To be honest, I think about how we are screwed. We are so totally fucked.” The social worker looked concerned. People don’t curse at the Children’s Hospital of Philadelphia. I tried to laugh, and then the social worker’s grin got bigger—not because she thought I was witty but because she did not have any other response. “You don’t understand,” I continued. “I actually made a list of how you know you are totally screwed. Do you want to see it? It’s like the lists David Letterman would do on his show.” Deciding that I must be some variation of okay, the social worker promised to get me her email. We never saw her again. There is a lot of turnover among the social workers in the neurology program at CHOP. It’s a pretty brutal job dealing with parents like us for fifty thousand dollars per year.

As soon as the social worker left, Pat chided me. “Why do you even talk to them?” he hissed. “Don’t you understand they are just doing their job to check in on us? They don’t really want to know how you are feeling.” This had never occurred to me. I assumed they truly wanted to listen to me, and that they might have some insights on how to help. But Pat just shook his head and said we were on our own. I did not believe that, but sometimes it was easier to say nothing.

I started writing a journal for myself. The list would be among the first entries. “Pat, I still think my list is funny, it just needs the right audience,” I said. Pat sighed. “I don’t think that’s how humor works. Either it’s funny or it’s not.”

TOP TEN REASONS YOU KNOW YOU ARE SCREWED

1. The doctors can’t look at you and/or they break down in tears right before your eyes.

2. The nurses tell you that they can’t stop thinking about you and that you are in their prayers.

3. The people on the phone at your insurance company tell you they are worried about how you are holding up.

4. All your friends, even the cheapest and the most broke ones, never let you pick up a check anymore.

5. You wish it was a brain tumor.

6. Your shrink tells you, “I’ve got nothing.”

7. The people at Make-A-Wish promise to fast-track your family’s dream vacation.

8. A Catholic priest says, “Job had nothing on you.”

9. You don’t care if you eat, shower, do your laundry, go out, change your clothes, buy new clothes, wear makeup or a bra, or deal with unwanted body hair ever again.

10. You can now relate to being one of the little old ladies who spend all their time at Starbucks wearing a sweater on an 80-degree day with makeup that makes them look like Bette Davis in What Ever Happened to Baby Jane?

I spoke again with my sister’s sister-in-law, Elayna, the New York–based neurologist. Her research had not identified any promising clinical MLD trials or miracles lurking in the wings. She confirmed what Pat and I had learned: the only possible treatment option was a bone marrow transplant, a risky procedure that—under the best circumstances—might slow the disease’s progression for a time. The same procedure had a 30-to-60-percent chance of killing Cal faster than the disease. Further, Cal was not a good candidate, as bone marrow transplants had been most successful in patients who presented with symptoms after the age of four. Elayna told me, “The only thing I can say is that when you look back on this time in the years to come, you need to say you didn’t have any regrets.”

Father Chris, our priest from St. Luke Orthodox Church, is one of the people we spoke to in the days after Cal’s diagnosis who knew how to conduct himself around parents like Pat and me. One day he appeared in our kitchen and demanded to know what he could do to help. When Pat and I lied and said we were fine, he refused to believe us. “That’s not true, tell me what you need.” At that point we were finding it difficult to bathe Cal. She would scream in the tub because she was having trouble sitting up on her own and when I picked her up, she would scream because she was afraid she would fall. “We need to remodel the bathroom,” I said. Father listened and took some notes. “Now was that so difficult? To tell me how we can help,” he said. By the end of the week he had spoken to a member of the church who would pay our contractor to remodel the bathroom with a walk-in shower. Our benefactor never contacted us—we never even had the name of the person to thank.

Father Chris’s wife, Michelle, showed up next.2 She pulled out a piece of paper to take an order of our favorite foods. Pat’s chemotherapy had left him with a lackluster appetite, and PJ was a picky eater, so I said, “We don’t want to put people out.” Michelle persisted, saying that the aunties and grandmas of the church would take turns cooking for us, and a cooler would be dropped off at the front door. Having grown up with my father’s aunts, I knew that the white-haired widows of the church who dressed only in black existed to provide their services for funerals and miscellaneous tragedies. There was no problem that a roasted chicken, a pot of lentils, or a tray of baklava and Greek Easter cookies called koulourakia could not fix. Greeks have a saying: “The beans saved Greece.” During World War II the German occupiers did not like beans, so when food was in short supply the Greeks managed to survive on the beans the Germans turned up their noses at. This was the motto of the army of widows. Fearing a freezer filled with food that would go to waste, I tried to explain. “The ladies of the church are so kind, but they really don’t need to do this. Pat and I are going to be fine. We all like pizza,” I lied. Michelle grabbed my hand and looked me straight in the eyes and said, “You really don’t seem to understand. This is happening.”

For months afterward, the cooler on our front porch was filled every day with loaves of home-baked bread, spinach pie prepared with hand-rolled pastry dough, spaghetti and meatballs, and cakes. Tupperware containers were waiting for us when we got home and our house soon was overrun with containers of every description, large and small, with purple, red, blue, and white lids. Most were filled with food lovingly prepared by kind people so eager to do something to help in those terrible days. The food might be a carefully cooked cherished family favorite, or it might be a Costco rotisserie chicken. You never knew. PJ and Camille would peek into the containers warily to see if there was something they might be tempted to eat.

Some containers were filled with meals prepared by neighbors, friends, and colleagues, but many more were assembled by complete strangers who thoughtfully called to find out what foods the children ate. Camille: everything. PJ: nothing. Cal was on a special diet of yogurt smoothies because of her troubles swallowing and chewing.

It didn’t take long for me to become furious about the containers that were filling every free bit of space, even in my china cabinet. One day I had a tantrum when no one was home and I threw them at the wall and on the floor, cursing them as if they were the cause and not just a symptom of our current circumstances. I yelled, “I wish they could go back to where they came from!” The Tupperware was a symbol of community and compassion but also a daily reminder that I couldn’t take care of my family.

Some nights, if I didn’t take walks to deal with my insomnia, I would sit at the dining room table filled with despair, eating the food that had been dropped off at our door. I ate compulsively, hoping it would fill up my sadness and make me feel less afraid. One night I ate a pork loin like it was a giant Tootsie Roll of meat.

Twelve-year-old Camille was horrified and suggested that I needed to develop a healthier relationship with food. “Mom, don’t be offended, but maybe you should try to be more like me. I feel like I am the healthiest person in this house when it comes to what I eat.” With my daughter staring at me as I shoved food into my mouth and with as much patience as I could muster, I said, “My darling, if I am hungry I will eat a giant piece of meat. I’m sorry you don’t like it, but I want to eat it.”

Those first days home I felt like I was dying, and years later, I would realize that I was. The person I once was, the person who looked forward to sending her daughter to kindergarten or teaching her to swim in the ocean, ceased to exist. A mother’s dreams for the future are inextricably linked to her sense of self, and human beings who have nothing to look forward to become zombies stumbling through life and missing the defining feature of their humanity: hope.

When we got home from the hospital I did not want to be around Pat and my older children because I didn’t know how to shield them from my anguish. The only thing that made sense to me, the only thing that kept me alive, was holding Cal for hours. We would watch movies and read books and go to the pool. For a very long time it seemed to me that I needed to be with her every waking hour because the doctors had told us we had just three years.

I was convinced that a good mother could never leave Cal’s side. It was a sin to spend time with friends or selfish to go to the gym or work on a new book because she needed me. Years later I would learn that what I felt was something called anticipatory grief. In extreme cases, parents who have been told their child is dying stop going to work or bathing or eating because all they can do is stand watch and wait for the child to die.

Anticipatory grief is grief in three time zones simultaneously: your past, your present, and your future. For me this meant mourning the way Cal had been, so all the artifacts of her old life, her toys and shoes and the photos of how she used to be, were sources of agony. I had asked Pat to take down all the photos of her when she was a baby. It was Camille who asked me to give away Cal’s toys to our beloved preschool because the sight of them brought her such heartache. All of us, especially PJ and Camille, struggled—and still struggle—with how to mourn our old life before Daddy and Cal got sick.

In the present we needed to accept that we were now a family with a medically complex child with a life-limiting illness. Our life of music lessons and soccer practice and school had to make room for hospice nurses and doctors and medical equipment and hospital beds. We now lived in a constant state of alert, wondering if this was the day we would need an ambulance to take us to the emergency room.

And the future was no longer about anticipating graduations and birthdays and summer vacations to Cape Cod. All of us understood that a terrifying inevitability was heading toward us and there was nothing any of us could do to change it.

The pool gave me the most comfort. Each day, as soon as we could get Cal fed and dressed, we would go there. In the water, the Cal from before her diagnosis returned. I am sure the neurologists, with all their jargon about how enzyme deficiency damages the sheath of the myelin, could explain why water helped her brain to function better than it could on the land. They might say it had to do with the way the water helped her body process the messages her brain was sending. But I preferred to see it as proof that Cal was a magical creature. It was during aqua therapy that a young occupational therapist named Kristy Pucci nicknamed Cal the Mermaid.

Indeed, it was comforting to think of Cal being transformed into a beautiful creature rather than dwelling on the medical explanations for a degenerative disease. In my grief I came to believe that Cal was not like other children because she was the Mermaid, too special and rare and pure to live among humans. And in the water her essence came through.

Whenever Cal and I were in the water in the days and weeks after she was diagnosed, in these trancelike moments I would pray. It was not a prayer to God but rather the expression of a feeling that would engulf me when I was in the water with her. Just staying in the water with my Mermaid was my idea of perfection, my heaven.

In the water my prayer was this phrase over and over again, a whispered song: “Mommy loves her Cal. Mommy loves her Cal.” I would say that dozens of time each day. Then I would say, “Mommy knows you are not going to stay for long, but try to hold on for as long as you can and let me know when Mommy has to let you go.” In these perfect moments with Cal, I would try to be careful in my words with her. How I longed to say, “Mommy will make it better” and “Mommy isn’t going to leave,” but these things were not true. The Mermaid seemed to understand that better than I could. But in the water it was impossible to hide the truth with sweet, false words. Mommy could not make it better and, far too soon, our Cal would be gone.

What I describe as prayer can be more accurately described as unfettered access to my love for Cal. My love for her was otherworldly and divine, and yet I never prayed to God after he had answered my prayers in the hospital chapel asking that he not give Cal cancer. My relationship with God is complex. I see God in the perfection of my daughter. I understand, with all my heart, how God’s love is not possible without suffering. And humanity requires suffering, grief, and pain to experience joy and love, and to find wisdom and purpose. Yet my rage at God comes from the simple fact that losing Cal is too high a price to pay. Those days right after Cal was diagnosed I was already able to see the paradox of how suffering would make me a better human being. The rage over losing my Mermaid made me gag and choke, but even then the truth of this was clear to me.

The bathing suit I wore in the pool was ripped and faded. It was astounding how grief had given me more than a passing resemblance to the gruesome sea witch from The Little Mermaid. The realization made me laugh. Grief had transformed me into this numinous creature. Like my Mermaid, it seemed I lived with the humans but was no longer one of them. When I watched parents ignore their perfect children who could walk and play, or when I overheard a parent become impatient with a child for falling down, I pitied the humans for the tiny way they lived. Each day that passed it was harder to remember how I could ever have been like them. I wondered how they could not go to the sea and ache with joy at the sight of the beautiful and healthy children.

That summer I would have visions or dreams; I couldn’t be sure if I was awake or not when these images came to me. Cal would be floating in some sort of blue netherworld—it could have been the sky or the sea. There would be a light in the distance and Cal’s curly hair would be floating above her in waves. She would never speak, but she would gaze at me, never sad, never frightened, never happy; this was a place where such emotions did not exist. And there would be shimmering light reflecting around her. I would try to speak but no words would come out. There was no need for words in this place.

It was not heaven, but it was the place in my dreams that felt divine and supernatural. Even if Cal was still living among the humans, this was the place where my Mermaid actually dwelled. Cal could not mourn the life I expected her to have, and she lived in a place that humans could not understand. She was the Mermaid watching all of us, fascinated and curious, longing to be a part of this world but separated—misunderstood, silent, and coming to life only in the water, unable to live among the rest of us.