How I Learned that My Child Had Frontonasal Dysplasia

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Categories Congenital Anomaly, Difference, Medical, NICU, Prematurity, Special Needs, Theme WeekTags , , 7 Comments

The first indication I had that there was a problem beyond how premature my daughters were was a delivery nurse’s comment as the obstetrician removed Baby B from my womb: “There’s something wrong with her face!” Both my girls were whisked away to the NICU, although they did unstrap one wrist to I could stroke M’s hair for an instant while I was sewn back together.

I didn’t get to see my daughters until they were 36 hours old. They were in the NICU, which I wasn’t allowed to enter, thanks to a fever. At first, I was convinced that M hadn’t made it, despite my husband’s assertions to the contrary. I could see the fear in his eyes. It wasn’t until later that the fear was as much for my mental health as for our twins’ physical health.

In those first 36 hours, I was brought conflicting news. The babies were doing fine. They would be given my colostrum as soon as I produced some. No, they’d be on high-calorie formula only. They were on feeding tubes. Only J was on a feeding tube. M was at risk of starvation because they couldn’t insert the feeding tube nasally. She wouldn’t be allowed to starve; they could insert it orally. She had no nasal passages. She might have nasal passages. Of course they’d give the babies colostrum, mixed into their formula. The best news of the day came from my friend Kaylan. As my husband tried to explain to me what had gone on with M’s nose and droned on about blockages, Kaylan cut him off. “She had a really big booger,” she said. Her feeding tube was in place now that her nose had been cleared.

Twin B in the NICU, How I Learned that My Child Had Frontonasal Dysplasia, from hdydi.com
This was how I first saw my little girl.

I didn’t really know what to expect of the NICU, and I was more struck by how tiny both my little girls were, by how many wires and tubes draped their miniscule bodies, than by the difference in shape between M’s nose and J’s or how different my identical daughters looked. The girls wiggled and squirmed much as they had in my womb, but they cried too, almost silent kittenish meows. They were alive and I could hold them. I forgot all about the delivery nurse’s comment and concerns about M’s nose and just held my babies, one at a time. They were feeder growers. There was a little boy on hospice care in the next isolette to remind me how fortunate we were to have relatively healthy children.

Closeup in the NICU, How I Learned that My Child Had Frontonasal Dysplasia, from hdydi.com

It wasn’t long, though, before M’s face was at the forefront of our medical concerns. M’s nose was asymmetrical, large out of proportion with her face, flat and dimpled. It felt more like the cartilage of my upper ear than the hard bone of my own nose. It might be a glioma, they told us, a brain tumour, around which M’s face had formed. I knew better than to rush to the word “cancer” on hearing “tumour”, but that was where my mind went. We were scheduled for an MRI. Since a newborn couldn’t be expected to be still of her own accord, she would have to be sedated. At the same time, we were scheduled for an appointment with a geneticist to talk to us about what genetic tests would show. Facial anomalies frequently accompany chromosomal abnormalities of all sorts, from the relatively common Down Syndrome to a plethora of rare conditions.

I asked whether J should also undergo genetic testing, given that she was M’s identical twin. If there was a DNA-based issue, chances were huge that J had it too. My concerns were tabled until we had a diagnosis for M.

The geneticist saw us before we even left the NICU. It was strange to attend an appointment with a doctor for a person who couldn’t be present. Our NICU was part of what was then Austin’s Children’s Hospital, and the geneticist we saw was housed in the same building, but M still couldn’t leave the NICU to attend her own appointment.

The geneticist was incredibly kind. She could see how terrified we were. She was able to give us the good news that there was nothing obviously wrong with M from a genetic perspective, but we were no nearer a diagnosis. The only thing that was still on the table was glioma. We decided early not to include my family in the conversation; I knew we needed positive energy and we weren’t going to get that from them. Even a conversation with my ever-positive mother-in-law brought me to tears, tears I had so far withheld, as she told me all she had learned about St. Jude Children’s Research Hospital and its amazing work on pediatric cancer.

We had to wait for M’s MRI to know anything more about what was going on. Her breathing seemed unaffected, her pulse-ox consistently healthy.

M and J were out of the hospital and I had returned to work before our MRI appointment day came. In fact, M had done better in the NICU than J and was released to come home at 16 days old, not bad for a 33 week preemie. J joined us less than a week later.

On the day of the MRI, we had to withhold food from M. It broke my heart to pump her meal into a bottle instead of feeding my poor hungry crying baby. She was so tiny on the hospital bed they wheeled away from us through swinging doors. The waiting was awful, but eventually a nurse came out to get us. Only one parent would be allowed in the recovery room as she awoke. My husband and I looked at each other in horror, but he made the call. “You go,” he told me, “’cause she’ll want to nurse.”

She was asleep in the enormous bed when I went to her, an IV in her hand. She wiggled a little before opening her eyes groggily. The nurse gave me permission to hold her, and she hungrily rooted for my breast before giddily guzzling her next meal.

We were told to expect answers in a couple of weeks. On day 14, I had heard nothing. On day 15, I called the craniofacial specialist who had ordered the MRI. I’d met him at M’s bedside in the NICU, but I couldn’t remember which white-coated man he was. The receptionist who answered the phone didn’t know why I hadn’t received a call. I told her that I just wanted to know whether my baby had cancer or not. It had been months since we found out there was something wrong. She heard the urgency in my voice and put me on hold, returning to tell me that it wasn’t a tumour. Why they never called me with the results, I will never know. I guess it wasn’t urgent to them because she didn’t need immediate treatment. Well, it was urgent to us.

I made an appointment to talk to the craniofacial specialist. The wait was excruciating. There was an answer out there, but we didn’t have it yet.

Frontonasal dysplasia in one identical twin, from hdydi.comFinally, our appointment came, and with it the answer. M had frontonasal dysplasia. It was a condition in its own right and not indicative of any additional problems. In short, she had a facial cleft, not unlike a cleft palate, but higher in the face. We were told that corrective surgery was an option, but that M might not need it. We should watch her activity level and let them know if she seemed short of breath, which might necessitate surgery. Around age 7, kids might begin to tease her, so we might want to consider surgery for social and confidence reasons. They showed us photos of other kids with far more advanced frontonasal dysplasia. M’s was a minor case.

We had our diagnosis by the time the girls were 5 months old. M was perfect. So was J.

M is pretty and her special nose fits her face, frontonasal dysplasia and all.
Tell me she’s anything less than gorgeous. I dare you!
Photo Credit: Lifetouch

Today, at age 7, M has come to learn that her special nose is something that some people notice. Most people just look at her and see a vibrant, energetic, smart, beautiful chatterbox. Her frontonasal dysplasia is part of her story, but not a defining part.


Prematurity Awareness Week 2013: How Do You Do It?

World Prematurity Day November 17In the United States, 1 in 9 babies is born prematurely, 1 in 10 in Canada. Worldwide, over 15 million babies are born too soon each year. While not all multiples are born prematurely, a multiple birth increases the probability of an early delivery. Babies born prematurely, before 37 weeks gestation, are at a higher risk for health complications in infancy, some of which can have long-term effects. Full-term infants are not all free from their own health complications, of course.

In honor of November’s Prematurity Awareness Month, led by the March of Dimes, How Do You Do It? is focusing this week’s posts on The Moms’ experiences with premature deliveries, NICU stays, health complications, special needs, and how we’ve dealt with these complex issues.

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What Makes Her Special

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Categories Attitude, Congenital Anomaly, Difference, From the Mouths of Multiples, Identical, Medical, Other people, Parenting Twins, Perspective, School, School-Age, Special NeedsTags , , , , , 16 Comments

When I stopped by my daughters’ school to drop off birthday cupcakes (for J’s class) and doughnuts (for M’s), the principal spotted me and asked me into her office. She must have seen the look on my face–or perhaps she’s merely accustomed to people’s reactions to being called into the principal’s office–and set me at ease, saying, “I need to brag on M.”

“Did M tell you what happened last week?” she asked after we were seated.

“I don’t think so.” M told me a whole bunch of things that happened last week, but none of her stories featured anything principal-worthy.

The principal told me that one of her 4th graders, normally a sweet boy, has been acting up recently. In one incident, he sat next to M at lunch and asked her what happened to her face. M began to cry.

At this point in listening to the story, I began to cry too, which made the principal join in. It was a major tearfest.

Let me give you a little background.

These are my daughters. I don’t think it’s merely maternal pride that makes me think they’re both awfully pretty.

Twin sisters
J is on the left, in green. M is wearing blue.

They are identical twins, but by developmental happenstance, M was born with a facial cleft (think cleft palate, but higher in her face and not affecting her palate), while J was not. M has been seeing a craniofacial specialist since birth. The appointments were every 3 months at first, then slowed to being yearly, and are now every two years. She hasn’t needed surgery, and there’s nothing wrong with the function of her nose. It just doesn’t have a defined tip. The cleft also causes her eyes to be wide set and has given her a widow’s peak hairline. All of it combines, in my mind, to give her an adorable anime/china doll look.

M’s doctor warned us that, even if there was no functional issue with her nose, kids get mean about appearance around age 7, and we could always opt to consider surgery if it was needed for M to have a healthy self-image. Honestly, I haven’t given surgery much thought. M is a well-adjusted kid. It’s not like M’s unusual look has never come up before. When kids have asked why she has a “funny nose,” I’ve responded by saying it’s so that we could tell her apart from her sister. When I overheard a little girl telling M that her nose was “too small,” I responded by focusing on its purpose. “Does it breathe?” Yes. “Does it smell?” Yes. “So is it too small to do its job?” No.

I’ve told M that she has the world’s most kissable nose, and she permits me 5 kisses exactly at bedtime on her “kissy nose.” A while ago, J told someone that a good way to tell her and M apart was her pointy nose, in contrast to M’s flat one. I considered freaking out and then realized that she wasn’t attaching a value judgment to one look over the other. Part of me worried, though, that having an identical twin will eventually add insult to injury. There will always be J there to show M what she would have looked like without the cleft. It’s never come up, though. I hope it never does. It helps that, while my girls value the twin relationship, they also relish being individuals and having some differences from one another.

Let’s return to the principal’s office, shall we? As you may recall, there was crying.

The 4th grader had been mean, and M had cried. It took a while for him to admit that he’d acted wrongly and with intent to hurt, so by the time he was ready to deliver a real apology, M was back in her 2nd grade class. She was called out into the hallway, and he apologized.

“It’s okay,” she told him. “You already said sorry, and I forgave you. People say that stuff to me all the time. It’s fine.”

Just to keep the tearfest going, the little boy began to cry. He was ashamed.

“It’s not fine,” the principal told her. “You’re a beautiful girl, and it’s not okay that people say mean things.”

“But I forgive them,” said my amazing, extraordinary child. “I love this school!” And she skipped back to class.

Tonight, at dinner, J was distracted by her dessert, so I took the opportunity to talk to M about this whole thing. “I heard you were extremely forgiving at school. [Your principal] was pretty proud of you.”

M beamed.

“Wanna tell me about it?”

She told me essentially the same story I’d heard in the office. I reiterated what the principal had said, that she didn’t need to just accept people’s cruel words.

“But Mommy, it’s okay. They can say what they want. It’s my job to forgive. I just don’t get it. I don’t understand why they would want to be mean about what makes me special. My kissy nose makes me special. What’s wrong about that? I don’t know why it’s like this, but it makes me special.”

There was nothing wrong with that, I told her, and by a major act of self control, kept the tears in this time. Would she like to know why her nose was special? She did want to know, so I explained in very simple, objective terms the nature of her cleft. I also pointed out that it was responsible for her widow’s peak, which she calls her “heart hair,” since it helps give her a heart-shaped face.

“I love my heart hair!” she said. “That is part of what makes me special too.”

She went on to tell me that her teacher had told her about being teased as a child for not speaking good English. Her sister’s teacher told her about being teased for having a big nose. I added my own story. I told her my tale of being teased for my eczema. I told her that I’d never realized I was pretty until I was 18.

She gasped. “But Mommy, you’re beautiful.”

“So are you, baby girl. I’m so glad you already know it.”

“Me too. I’ve known ever since Nicole told me I was beautiful when I was very small. That’s why she’s such a good friend,” she said.

There was nothing more to say.

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