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"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."