How I Knew

There are two pictures on top of my desk and my second daughter is in both of them. In the first, taken a few weeks after her birth, her sister, eighteen months older, is holding her in her arms.  In the second, she sits next to her first cousin, born exactly two weeks before her.  When I look at the pictures now, I realize I had to have known something was wrong. Maybe it was her nature, which at times seemed too calm, even for a newborn. Or maybe it was how she frequently held her hands tucked together, at the very top of her belly, while she pursed her lips, eyes tightly closed. Sometimes she would simply suck on her own tongue for hours on end.  In the first picture, she was almost four weeks old. She is laying on her sister’s lap, and seems to have fallen over to her right side. Her eyes are closed, her body seems lifeless, limp. Her head is fully tilted to the right side, and her left arm hangs loosely, as if it had no movement at all.

She was born on May 30^th, 2003 at 6:22 am. She weighed eight pounds, thirteen ounces.   When you’ve already had one child, you can’t help but immediately begin comparing your second to your first. Camila, my first, had been totally bald, and at that time, was still bald. And here was this new baby, with a head filled with so much hair it startled me.

We named her Caterina. I found the name beautiful, but also strong, and of another time. It gave me the impression that it was a name for a person of some character. I did not choose traditional family names, the way most women in my family would have.

I remember staring at her for hours. Her eyes were big, brown, far apart from one another, leaving a flat space, a little too large, for her nose to emerge from. Her nostrils were wide and she had almost no nose bridge. Still, no matter how long I stared at her I could not find a resemblance to myself nor her father. She looked like no one in our family, and certainly not like her older sister.

She came home with us forty-eight hours later, eating and sleeping well, and doing everything a newborn was supposed to be doing. She was an easy baby, rarely fussed, slept six hours through the night early on, and latched on to breastfeeding with a hearty appetite.  A few weeks after we were home, I noticed that the right side of her head had been flattening out, and instead of the large, round head she had been born with, she now had a head that was shaped more like a large potato, with a dent on the right side. It looked as if someone had taken a cast iron pan and somehow flattened out part of her head.  By the time we went for her six-week visit, I was looking for answers. I wanted a professional to comfort me, tell me not to worry, tell me the fear I felt was simply a product of my imagination.

It would take another twelve months until Caterina was diagnosed with Hurler Syndrome, an extremely rare lysosomal storage disorder. Until the 1980s, Hurler syndrome was a death sentence. The story of her diagnosis and her treatment, the months and years and fears and the toll on my family, and my journey as her mother, is a story for another day.

This is the story of remembering how I knew. Or how I knew something was not right even when I was told it was.

**

I began by calling my sister.

She told me I was constantly asking questions about Caterina. From the time she was born I was looking at all her features and wondering if certain things were normal, like the hair on her back. I would call her all the time to ask her what her daughter was doing, even though I already had an eighteen month old at home. I would go back to Camila, my oldest’s, baby books and take note of all her firsts, and notice that Caterina was not close to meeting those.

I was also overly protective of her, in a way that seemed strange given that she was my second child. I wanted to protect her; from what, I did not know.

Her pediatrician. Dr. Jona Weiss, did not appear concerned. My mom never liked her but I did; she had cared for my elder daughter too. But my mom would say she looked too much like a hippie, with her long curly hair always worn down, sometimes covering part of her face. “She’s examining kids with hair all over the place. It even gets on the kids. How can she see anything?” I tried not to let that get to me.  Dr. Weiss was reassuring. She would highlight the things Caterina was doing right, the milestones she was meeting. She was patient with me, and asked lots of questions. I felt better every time I walked out of her office. The feeling would last a day or two.

**

After calling my sister, I went back to the medical journals. I found articles that were once over my head but no longer are.   In one article, titled “The Clinical Outcome of Hurler Syndrome after Stem Cell Transplantation,” published by the American Society for Blood and Marrow Transplantation in 2008, there is a section titled “Neurocognitive Function.” It explains that in untreated Hurler Syndrome patients, normal cognitive and motor developmental milestones are usually achieved until the age of six months. So most kids appear normal. No wonder a lot of kids don’t get diagnosed. They usually meet most of their milestones until that age. In another section, the paper says Hurler Syndrome patients usually have a normal appearance during the first six months of life, although certain, mostly non-specific symptoms are already there during this period.
Some of these symptoms are: mild facial dysmorphisms, persistent rhinitis, recurrent upper respiratory tract infections, hepato-splenomegaly, recurrent hernias, and mild thoracolumbular kyphoscoliosis. The names, once intimidating and scary, are all familiar to me now. Mild facial dysmorphism means abnormal facial features. I googled it, and went straight to the images. It is not a pleasant experience. But a lot of the kids in the pictures look like Caterina did. In the picture of her and her cousin, they are wearing the same outfit, a cute striped turtleneck and purple patchwork corduroy pants. Her cousin’s ears seem aligned normally. Caterina’s hang lower. I had forgotten, but I remember wondering why her ears were like that.  Once upon a time, Hurler Syndrome used to be referred to as gargoylism. I can’t think of a more horrifying image.

Persistent rhinitis. She never had that – something that typically causes sneezing and a blocked itchy and runny nose. But she did snore loudly on most nights. I remember wondering why that was. We took her to an ear nose and throat specialist and were told she had large adenoids and given a nose spray to use for two weeks. The snoring never went away.
Hepato-splenomegaly.  A liver and spleen that are swollen beyond their normal size. None of the doctors mentioned her liver being swollen. Apparently that can be due to something as simple as a viral infection, but it says clearly on Wikipedia “or it can be a sign of a serious and life-threatening lysosomal storage disorder.”  Recurrent Hernias. She had a hernia, but it did not develop until much later so that was not an obvious clue.  Mild thoracolumbar kyphoscoliosis. Basically an abnormal curvature of the spine. This I am intimately familiar with. It’s what finally got her diagnosed. An x-ray of her spine. Nine days after her first birthday.

**

I met with Dr. Weiss three weeks ago. I had called her on the phone in March, and explained to her that I was writing about my memory of the year Caterina was diagnosed. “My memory is pretty good, but I also have all of her files,” she said on the phone. “Do you like tea?” she asked me. “Yes.”
“Ok, when you come in I’ll make you some tea. We can talk.”  Before we hung up, she said “I remember hugging you goodbye when you left for Duke for her transplant. I also remember you asking to meet me and walking through Central Park after you guys came back.”

I had called her that summer of 2005, about a month after coming back home from a year at Duke Medical Center, where Caterina had her life-saving stem cell transplant. Everyone kept asking me if I was going to sue the pediatrician. I remember thinking people were crazy. My child had just survived a life-threatening transplant and they wanted me to spend energy on a lawsuit? Zero chance. I had called Dr. Weiss because I knew she felt heartbroken. I wanted her to know it was not her fault. Incidences of Hurler Syndrome happen approximately once in 150,000 births. She had never seen a case.

Dr. Weiss and I met on April 14th. She gave me a big hug and invited me into her office. “Do you have any pictures?” she asked me. I pulled out my computer to show her the most recent pictures of the kids. She called out to her secretary to pull out Caterina’s files. “How’s she doing?” she asked me.

“She’s almost thirteen. She goes to a school for kids with learning disabilities, but she’s very smart; she just needs extra help and a more contained environment.”   I told her she’s tiny for her age, only three feet, eight inches, and has limited vision in her left eye.

“She has a g-tube. But she’s a happy, well-adjusted, and surprisingly self-confident pre-teen. She does not seem emotionally impacted by her differences.” She listened intently. Her gaze was fixed on me. It almost made me uncomfortable. The office was quiet, not the typical frenzy of a pediatrician’s office – no sick kids, no ringing phones. I was the only one there.
“How did I act back then?” I asked her. “Was I paranoid? Did I act genuinely worried?”

“I remember you being incredibly caring. No, you did not seem paranoid,” she said.
“But, there is one specific memory I have. It was something your mother said and it was at one of the very first checkups.”
Something my mother said? Now I was really curious. My mother lost my brother to a childhood cancer when he was thirty-two months old. She was intimately acquainted with childhood illness.  “She said she did not look like anyone in your family. I remember her distinctly saying she must look like babies did in your ex-husband’s side of the family. She certainly did not believe she had your genes, she seemed fixated on that.”  We went through the kids’ pictures. She said she would love to see Caterina.

Dr. Weiss reminded me that I had decided to start early intervention at a young age. The secretary came in with the files. “You went to see Aida and Lucia at New York Hospital. They started physical therapy on her with some exercises at six weeks when her head was flattening out.” I had forgotten about Aida and Lucia. They were physical therapists I had been to see a few times to help me start repositioning exercises so that Caterina would learn to sleep on the other side of her head. Plagiocephaly. The medical term for head flattening. It’s typically common when kids sleep with the head to one side only. Now it should have seemed obvious. But back then it was simply the first red flag.
“You always took the aggressive route as opposed to the wait and see side. That I remember. I would give you the option – you could do some exercises yourself, and we could reassess at the next visit, or, you could intervene with help from professionals. You always took the intervention route.”

“You were kind to me,” she said. “Your husband seemed really angry.”  She opened up the files and started looking at some dates. She pointed to an entry dated December 3, 2003. Caterina would have been almost six months. “I think I wrote down ‘grandparents very upset about head size.’” I looked down at the file. She wrote GP for grandparents. Apparently I had not been the only one who thought something was not right.

**

I had another conversation with my sister.

On a trip to the Dominican Republic to visit family when Caterina was about ten months old, I took her to a pediatrician in a small beach town where we were staying. He suggested I see a geneticist (I was there for a fever/virus). I wondered what he meant. My sister said I came back to my parents’ home angry, blasting the doctor as some small town inexperienced guy, seeing as I was already taking her to top specialists at New York Hospital.

But his words sat with me. When I returned home I asked Dr. Weiss “should we see a geneticist?” and she replied “what’s a geneticist going to tell you. We are already having her see a top neurologist.”

**

Was I like other mother’s in my situation? Was it obvious to others in my shoes?  I reached out to Sue Wood, Caterina’s nurse practitioner at Duke, who became like family the year we lived down there. I wanted to find out if she could give me the name of other mothers who have kids around Caterina’s age who I could talk to. Did we have something in common? Was it mother’s instinct?

She gave me the name and number of Peggy Dennis, whose son Matthew is a few months older than Caterina. Peggy lives in Maryland.  Peggy told me she first suspected something was wrong with Matthew around six months of age. She could tell Matthew was developing differently from his twin brother, who is healthy, and was told by her pediatrician at the six-month checkup that they would be different, but that was normal.  But she kept suspecting something major was wrong.  Her own brother is a doctor, and he kept telling her “if the pediatrician said all is good, let it be.” She said both her mother and her sister kept getting into arguments with her brother because they kept saying something more was going on.  Peggy herself said “I knew more was going on, but with caring for three kids, working and trying to make doctors appointments, (which took months to get into place) it was overwhelming.”

Finally, when Matthew was 9 months, she refused to leave the doctor’s office. She said she would stay there until they found something. She wanted the doctor to spend more time with Matthew, and insisted that he needed to be seen by some type of specialist. She just didn’t know what kind.  The doctor eventually said Matthew’s eyes looked funny. But the doctor had never seen something like what he was seeing before. So he sent her to a specialist at John’s Hopkins eye center. The eye specialist ended up sending them to a geneticist at Hopkins, who finally diagnosed Matthew.

When I asked Peggy how she felt when the doctors confirmed her belief, she said “ I was so upset since I was told it was terminal by a team of Hopkins doctors.  They said they would help me get him to a comfortable death. All I could think of driving home from the hospital was the movie Lorenzo’s Oil and how I would find Matthew’s cure somehow.”  Eventually Peggy also found Duke hospital and was able to save Matthew’s life with a stem cell transplant.

They were there exactly nine months before Caterina and I.

“Have you trusted yourself and your intuition more after having the experience of being a mother to a child like Matthew?,” I asked Peggy over email.  “I believe I have been more forward. In the past, I would have put doctors at the highest level of knowing everything and recommending everything but now I trust myself more.  I gather more information and may see more than one doctor. I do this for myself as well as my kids.”

**

I had a hard time finding research on mother’s intuition. A few weeks ago the phone rang at home. It was Dr. Eileen Kennedy Moore, a psychologist and author, who happens to live in our new hometown of Princeton, NJ. I had found her name when trying to research “mother’s instinct” on Google. She had written an article on the subject. She told me she’s not an expert on mother’s intuition, she just happened to write that one blog post. She did say she knows one thing “you know your kid best. You are your kid’s best advocate.”

Just like Peggy, I’ve become more forward. The clues were all there from the very beginning. I didn’t need a doctor to tell me. I just needed to know what was happening to my girl.

Claudina Bonetti is writer and graduate student at Columbia University School of the Arts. She is pursuing her MFA in nonfiction writing, and is currently working on a memoir about her journey with Caterina.