By Chris Lane
By Jeff Balke
By Aaron Reiss
By Angelica Leicht
By Dianna Wray
By Aaron Reiss
By Camilo Smith
By Craig Malisow
Here's what can happen when you're the parent of a primordial dwarf:
First of all, you don't know you're the parent of a primordial dwarf. The words "primordial" and "dwarf" have rarely surfaced on their own in conversation, let alone together. So you're not aware that this is a thing, and your doctor just shrugs his shoulders and refers you to a "specialist" when you ask him why your kid looks like she was shrink-rayed.
As your kid grows up, she doesn't actually grow. Not much, anyway. So when you take your bite-sized, underweight kid and her normal-sized twin sister and their older brother to the grocery store, people threaten to call Children's Protective Services because you obviously don't like one of your daughters and are therefore starving her to death. Or perhaps they'll approach you with the belief that it is entirely appropriate to ask about the small one's life expectancy.
Such were the first six years after Chrissy Bernal gave birth to Sierra and Sienna. Because it wasn't until then, after seemingly endless trips to Texas Children's Hospital to see a procession of endocrinologists, cardiologists, pulmonologists and neurologists, that they wound up in the office of a geneticist visiting from Belgium who took one look at Sienna and said, "Wow. I've only seen two others like her."
That's when he explained: Sienna was one of maybe 200 people in the world who fell under the umbrella of primordial dwarfism, a set of conditions sharing the characteristics of poor growth while in the womb and slow growth after birth; a birth weight roughly under three pounds and length less than 16 inches, among others. They were a select group of people with the distinct honor of once being labeled "bird-headed dwarfs" in medical literature.
Sienna eventually became part of ongoing studies at Texas Scottish Rite Hospital in Dallas and the Nemours/Alfred I. duPont Hospital for Children in Delaware. Along with about 40 other primordial dwarfs in the U.S., Sienna has contributed her DNA and medical history to help doctors understand the genetics behind this rare form of dwarfism, as well as how this dwarfism relates to other medical conditions. But when Sienna's not helping solve an incredible genetic mystery, she's simply trying to be a regular 11-year-old girl.
At three-feet-ten, Sienna (who also goes by "Sinny") is taller than most primordial dwarfs. And at 27 pounds, she's one of the slightest.
She's a bony bundle of energy who'd like a nice pair of red heels and thinks her glasses and hearing aids make her look dorky. Or, even worse, intelligent.
"I don't want to look, like, too smart," Sienna explains to her mom and sister, who are sitting with Sienna in the family's Tomball home on a Sunday afternoon. "I don't want to be too smart for a guy."
"You can never be too smart for the guy," Chrissy corrects. "If you're with a guy that you're too smart for, you don't need to be with him."
This was appended to an earlier conversation about guys — or one guy in particular, who may or may not be dating Sienna.
"Does he know you're dating him?" Sierra asks with a grin.
Sienna pauses, shakes her head. "But he knows my name, though."
Sierra: "Okay, so if I know your name, does that mean I'm dating you?"
This kind of ribbing apparently began in utero; like security-cam footage of a stickup, an ultrasound photo shows Sienna kicking her sister in the head. Of course, this was when Sienna finally came out of hiding. It wasn't until six months into Chrissy's pregnancy, in October 1998, that a bemused ultrasound technician discovered that Sierra was not a sole occupant.
The doctor explained to Chrissy that sometimes twins' heartbeats are so in sync that two sound like one. Baby B, as the doctor called the new arrival, was simply mirroring her sister. But there was another, more worrisome reason that Baby B hadn't been detected: Developmentally, she was five weeks behind her sister.
The existence of an additional, undersized fetus wasn't the only shocker: Baby B's heart had a hole in the wall separating the ventricles. Perhaps more alarmingly, there appeared to be a deformation of the cerebellum, the fist-sized region of the brain integral to motor function.
Eventually, doctors diagnosed the brain defect as something called Dandy-Walker. Not exactly reassuring, but now Chrissy knew exactly what to type in a search engine and fret over. What stumped the doctors was Baby B's small size. An amniocentesis could help solve the mystery, but there were of course risks. Infection. Fetal trauma. Miscarriage.
Chrissy would later write of the experience, "Then they said something [I] would have never expected to hear: 'We'll need you to let us know which baby you would like to root for, in the event that either one of them starts to go into distress or their condition worsens.'"
Chrissy wrote that her answer was very quick and very clear: "'That is in God's hands.'"
The girls were born three months premature. Whether by providence or simple tenacity, Sienna defied doctors' expectations. Weighing 23 ounces at birth, tiny enough for her arm to slide through a wedding band, Sienna was not expected to survive. If she did pull through, physicians predicted, she would be a vegetable. She spent her first 108 days in intensive care, first subsisting on sugar water pumped through a tube in her nose, then through a feeding tube snaked straight into her stomach.
Hearing this story again, perhaps for the millionth time, Sienna admonishes her mother, explaining that all the hassle could have been avoided if Chrissy had simply brought the babies to full term: "Mom, you should've waited until we were done!"
Earlier this year, Sienna got to hang out with other primordials at the Little People of America convention in Nashville. It was perhaps the only time Sienna ever had to bend down to talk to kids her age and older. She was her usual self, darting all over the convention hall to chat with her peers. Maneuvering was more of an issue for her stepdad.
"Dad was, like, really slow, 'cause he had to, like, dodge the dwarfs," Sierra explains, before suddenly realizing something: "That'd be a fun video game."
At the convention, Sienna didn't have to explain her size to anyone, didn't have to worry about stares or slights. If you ask Sienna point-blank what it's like to be a primordial dwarf, she might ham it up and start off with, "It's kind of a big speech..."
Occasionally, kids will be mean. If they don't say something to her face, they might be overheard trading insults behind her back. When she was younger and still had the feeding tube in her stomach, kids ripped it out on more than one occasion.
"One kid, she didn't let me play with her," Sienna says, ratcheting her voice into a snobby snarl to imitate the offender. "She said, 'You can't play with me!' So my sister beat her up." (At this point, Chrissy interjects to explain that, while Sienna might have given the impression that the episode occurred last week, it actually took place when she was five).
Sienna, who is mildly learning-disabled (learning disabilities are one of a host of problems that can accompany primordial dwarfism), also gets frustrated sometimes over the incredulity of adults who don't believe she's 11. "Come on," they sometimes say, "how old are you really?"
"I'm like, 'Are you kidding me?'" Sienna says. "'Are you that retarded?'"
"Sinny!" her mom snaps. "Don't say that."
As it turns out, Sienna isn't really that brash. It's just that, at home among family, she can vent if the need arises, or embellish a story with an imaginary comeback she'd never be rude enough to say in the moment.
"I'm not a person to be messed with," she says at one point. And without missing a beat, her sister says, "Yeah, you are."
"That's not how you act," Joey Bernal says from the other room. "Stop trying to act tough. Be honest."
Honesty is valued above all else in the Bernal household, which, in addition to the twins, includes big brother Austin, 15. Honesty about Sienna's strengths and weaknesses, about not pretending she's not different. No one gets to play the Dwarf Card around here. Joey explains at one point that the family doesn't want to walk on eggshells when it comes to Sienna. It would only make her feel weird. There is an atmosphere of total openness when it comes to Sienna's dwarfism.
It appears to give Sienna confidence. She can talk nonstop and, at the merest hint of a suggestion, can bust out into a song or dance. Like Sierra, Sinny loves to sing. Taylor Swift and Justin Bieber are two of her favorite pop stars.
"Maybe you should date him," Sierra tells her sister when she mentions Bieber's name. "Y'all are about the same size."
Dr. Michael Bober of the Nemours/Alfred I. duPont Hospital for Children in Delaware is perhaps the country's leading expert in primordial dwarfism.
He recalls a watershed moment while attending a Little People of America convention: "The first time I saw a primordial dwarf," he says, perhaps unaware that that's one of the coolest ways ever to begin a story, "I was walking down a hallway of a hotel and I saw this — turned out to be a teenage boy — doing a gymnastics tumbling routine. Cartwheel after handspring after cartwheel after handspring, at amazing breakneck pace, for, I don't know, 20, 30 yards down a hallway. It was mind-boggling. And he couldn't have been much more than two, two and a half feet tall. And it was just stunning to watch. It just was mesmerizing...[I thought] 'How did that child just do that?' "
He was already running the hospital's genetics and dysmorphology clinic when, almost by chance, the primordials came into his life.
"I feel like, in a lot of ways, the families chose me," Bober says.
His predecessor at Nemours, Dr. Charles Scott, was one of the authors of a key 2004 American Journal of Medical Genetics article on primordial dwarfism. Scott and a co-author, Dr. Judith Hall, retired shortly after the article was published. Bober makes it sound like parents of primordials began contacting him only because he just happened to be around to answer Dr. Scott's phone after he retired. (A modest guy, Bober never suggests it might have been because he's a board-certified, highly skilled geneticist).
With the help of a nonprofit primordial dwarf support group called the Potentials Foundation, Bober and his colleagues are compiling primordials' medical records into a registry. The idea is to use the information to predict and better treat medical problems associated with different kinds of primordial dwarfism.
"It's not a diagnosis, but a set of conditions," Bober says of PD.
He and a colleague have divided primordials into two general categories: those with average head circumference (normocephalic) and those with small head circumference (microcephalic). However, there is a sort of catch-all category, which Bober calls "primordial dwarfism — not otherwise specified." That's Sienna's group.
The most recognized and studied group are the microcephalics, specifically, those referred to as having Majewski Osteodysplastic Primordial Dwarfism, Type II (MOPD II). It was 58 individuals from this group who were featured in the aforementioned 2004 journal article. Although written for a specialized audience, it is generally accessible to the layperson and contains a brief but fascinating history of people who are now believed to have had MOPD II.
There is, for example, Lucia Zarate, born in Mexico in 1864. Her weight at birth was a reported eight ounces, and she was only seven inches long. She never grew more than 20 inches tall. This stunted growth apparently didn't affect her demeanor, as "she was described as cheerful, loquacious and beloved by the circus troupe" with whom she worked. (Unfortunately, her loquaciousness was no match for the blizzard that trapped the troupe when their train became stuck in snow while trying to cross the Rocky Mountains. She died of exposure at age 26.) Sadly, the article doesn't have such details for an individual known as Princess Pee Wee. As her name suggests, she was "known to be extremely small."
The article states that there were 11 known deaths among the 58 studied cases; ages at death ranged from ten months to 25 years. Causes of death included sepsis, gastrointestinal disease combined with dehydration, renal failure and heart disease. "The oldest known living affected individual is 37 years old," according to the article. She was "a woman who is postmenopausal and wizened in appearance, with patchy skin pigmentation. She is pleasant, interactive and engaging." Because of the range of syndromes and ancillary medical problems that fall under the PD umbrella, it would be difficult to estimate a general life expectancy.
While "the responsible gene has not been identified," according to the article, subsequent studies point to mutations in the pericentrin gene as the likely culprit. Pericentrin encodes a protein crucial to cell division. It's an idea that makes sense to Bober: "If you think about development, there's nothing more basic, there's nothing more primordial than cell division."
This is where an arm of Bober's study — also made possible via the Potentials Foundation — comes in. Overseen by Dr. Carol Wise, the director of molecular genetics at Texas Scottish Rite Hospital for Children in Dallas, the ongoing study involves collecting DNA samples from primordials in order to identify the genes and mutations responsible not just for MOPD II but for the whole primordial population. (The blood samples are collected at Little People of America conventions.)
"It's really been very rewarding," Wise says of the research, which began in 2008. "I have to give credit to the families, because they've been very proactive, very good at spreading the word to each other...They made our work that much easier."
Many of these families are part of the Scottsdale, Arizona-based Potentials Foundations, founded in 2007 by Elizabeth Hale, the mother of a daughter with MOPD II.
Board member Bob Walker's son Nick also has MOPD II, although it took eight years for the Walkers to find that out. That year, 2001, Nick Walker went to his first LPA convention.
"The diagnosis wasn't terribly important to Nick," Bob Walker says from his home near Denver. "But meeting someone that was actually like him was wonderful."
A tremendously proud dad, Walker says the Potentials Foundation has helped bring together many families who might otherwise have felt frustrated and isolated, given PD's rarity.
"There's a lot of knowledge that we've gained the hard way," Walker says. And that knowledge can be passed on to new parents. It's something Princess Pee Wee's folks probably would have appreciated.
Besides having children it's often difficult to find clothes for, one thing parents of primordials seem to have in common is an amazing openness.
In the past few years, primordials have been profiled on talk and reality shows, in local papers and on their parents' blogs. Chrissy Bernal has already written a biography of Sienna, Living Life Sinny-Sized, as well as the first installment of a planned series about Sienna's real and fictional exploits.
The parents seem eager to explain what they know about primordial dwarfism and to show that, on the inside, their kids have the same feelings, desires, frustrations and annoying habits most other kids have. Questions are welcome, although, as previously mentioned, they may bristle if you ask how long their children are expected to live. The more their peers know about them, the less odd they may seem.
The Bernals were extremely accommodating for this story, even inviting the Houston Press to Sienna's open house at Tomball Intermediate. Meanwhile, the Tomball Independent School District denied a request to shadow Sienna to see first-hand what a typical day at school is like for her. Spokeswoman Staci Stanfield said the district only allows media access when an entire campus is promoted, therefore this story was not deemed "appropriate."
Which is a shame, because at the open house, Sienna was only too excited to show off her new classrooms and teachers, darting down the halls like a preteen possessed. She would barely introduce one teacher before high-tailing it to the next, as they smiled at the enthusiasm they had already come to expect. The world's most passionate tour guide, Sienna pointed out obvious things like restrooms and the cafeteria as if they were exotic species.
Sienna's energy — some might accuse her of being hyper — is actually something Chrissy has to keep tabs on. A personal trainer, Chrissy wants Sienna to be active and healthy, but Sienna hasn't been able to gain weight for a long time and has plateaued at a scant 27 pounds. She can't afford to burn too many calories and lose weight.
Of course, her small, slight stature prevents her from participating in a lot of sports in the first place. But one activity at which she excels is the Nintendo Wii. The controller fits comfortably in her hand, and in several games in particular, her avatar is extremely nimble. It turns out Sienna wields a mean fake sword — her favorite game, she explains, is one where you use such a weapon to "hurt people to death." (Joey Bernal ribs her about that particular game, whose antagonist looks a touch wimpy. "You're beating up a nerd with glasses," he kids. "What's up with that?")
Sienna of course brings this energy to another activity that allows a good workout — her weekly special-needs taekwondo practice at All-Star Martial Arts in Cypress.
She excels in this class, which welcomes kids with every special need imaginable. The patient, compassionate instructors lead 20 or so kids who plant their feet, or wheelchairs, on marked spots on the orange gym mat covering the floor. In addition to the exercise, the instructors talk about things like focus, effort and always giving your best. If you're a white belt, you don't practice like a white belt; you practice like a yellow belt. That's how you get better.
When class begins, the kids are told to do 25 jumping jacks, 20 punching jacks and then hit the ground for push-ups. Sienna nails all of these, pausing occasionally to brush a persistent lock of hair out of her eyes. She's focused, eagerly awaiting instructions.
Next come front-kicks. The senseis drop to their knees and hold out pads for the students to whomp on. A lot of the boys yell at the top of their lungs while they kick, as if the volume will guide their feet to the pads' sweet spot.
When it's Sienna's turn, she kicks high and hard, but she's quiet. She smiles when she connects with the pad. She high-fives her instructor, throwing her whole body into it. Then she smiles again and runs to the back of the line, waiting for her next turn.
Back at home the following weekend, a conversation about how the doctors gave Chrissy the option to abort Sienna and keep Sierra has turned into something part absurd, part philosophical and part Abbott and Costello.
"You know what 'abort' means?" Sierra asks her sister.
"No," Sienna says.
"They could have killed you," Sierra says.
Sienna: "Why did you have to have a choice?"
"She was gonna say 'no,'" Sierra says. "I mean, she's not gonna kill you."
But this only confuses Sienna, who asks, "What would happen if you say 'no'?"
"I did say no," Chrissy says.
"That's why you're still alive," Sierra points out, respectfully refraining from adding a big "Duh!"
Sienna is still perplexed, and squeezes out a mostly unintelligible question that ends with "What?"
"Never mind," Chrissy chuckles. "Never mind, Sin."
"Like, what would happen if you said 'Yes?'" Sienna asks.
Chrissy: "Then you would not be here."
Sierra: "And I would not have a twin."
Sienna eventually puts it together and announces, "If I didn't have lived, [I'd] be dead."
Chrissy laughs again. "That's right. If you didn't live, you would be dead."
It's a bit jarring to see a family talking so openly about something like that. But this kind of bluntness has marked Sienna's life from the beginning. Even after her 108 days in natal intensive care, there were many subsequent hospital visits, and every time, doctors labeled Sienna as "Failure to Thrive." Based on what the doctors told Chrissy and Joey, Sienna was never supposed to be around this long.
That's why the words of the doctor who first recognized Sienna's primordial dwarfism are such a source of comfort and encouragement to the Bernals even today.
Right after the doctor's "aha!" moment, Joey says, "The very next sentence out of his mouth was, 'I expect her to live a long and fruitful life.' He actually said that she had just defied all odds."