Heather and David Britton want everyone to understand a few things about their giggling, bespectacled 3-year-old son, Chase.
"He's happy. We call him the Little Gremlin. He loves to play tricks on people. He loves to sing. His goal in life is to make people smile," Heather Britton told AOL News.
"He's got so much love around him. We're an extremely happy family. His story is not tragic."
But to an outsider, the Brittons' story might seem heartbreaking.
Another son, Trey, was born 11 weeks early and only expected to live moments. Instead, he died six weeks after his birth in 2008, on the same day he was scheduled to receive a liver transplant. Cleared to get pregnant again, the couple was thrilled when Chase was conceived, Britton said. They were eager to give older son Alex, 13, a sibling.
Chase was also born prematurely, and he was legally blind. When he was 1 year old, doctors did an MRI, expecting to find he had a mild case of cerebral palsy. Instead, they discovered he was completely missing his cerebellum -- the part of the brain that controls motor skills, balance and emotions.
"That's when the doctor called and didn't know what to say to us," Britton said in a telephone interview. "No one had ever seen it before. And then we'd go to the neurologists and they'd say, 'That's impossible.' 'He has the MRI of a vegetable,' one of the doctors said to us."
Chase is not a vegetable, leaving doctors bewildered and experts rethinking what they thought they knew about the human brain.
"There are some very bright, specialized people across the country and in Europe that have put their minds to this dilemma and are continuing to do so, and we haven't come up with an answer," Dr. Adre du Plessis, chief of Fetal and Transitional Medicine at Children's National Medical Center in Washington, D.C., told Fox News affiliate WGRZ.
"So it is a mystery."
Chase also is missing his pons, the part of the brain stem that controls basic functions, such as sleeping and breathing. There is only fluid where the cerebellum and pons should be, Britton said.
Britton's pregnancy was complicated, so doctors closely monitored her. Deepening the mystery, she has detailed ultrasound pictures of Chase's brain during various stages of fetal development and the images clearly show he once had a cerebellum.
"That is actually a fundamental part of the dilemma," du Plessis told WGRZ. "If there was a cerebellum, what happened to it?"
Doctors found no signs of a brain bleed, hemorrhage or stroke, and no damage to any other part of his brain, Britton said. Technically, his diagnosis is cerebellar hypoplasia, which normally means a small cerebellum rather than a missing one.
Chase's case, du Plessis said, challenges "fundamental principles." And its impact is certain to reach far beyond one little boy and his family.
"It is cases like this that rally the support of the medical community, that harness the interest of other investigators, that stimulate people to try and find solutions," he told WGRZ, "and those repercussions will have an impact on a much broader population of kids."
But what the Brittons know is this: Chase eventually managed to sit up on his own, something he shouldn't have been able to do without a cerebellum to provide balance. Next he learned to crawl, first dragging himself military-style, then pushing himself upright. Now, he's learning to walk.
"He keeps going," his mom said. "He keeps picking up new things and progressing. We call it, 'Chase pace.'"
In the fall, Chase started going to a specialized preschool near his New York home three days a week.
"I'm in awe of him every day," Sharon Schultz, his teacher at CHC Learning Center in Williamsville, N.Y., told WGRZ.
"Things that, based on that diagnosis, he should not be able to do, he is doing. I mean, walking up and down the hall, riding a bike, holding a pencil or a pen to work on projects, using scissors."
It's kind of a testament to how much our genes and development can eff up--we can be born without important parts, or with them arranged wrong, or we can get in debilitating accidents--or get a freaking photon cannon shot through the face, and lo and behold, we take a licking and keep on ticking--and even if we do have a problem? Other people who aren't even messed up can cut the dying ones open so they can live longer.
It shows you evolution did get a lot right--and a lot wrong, as well.
Perhaps our most amazing adaptation is the ability to count on one another and sort of mold ourselves into usefulness no matter how 'pointless' others may see our life.
There are plenty of people born without body parts or with extra ones who manage to live happy, healthy lives. And that's really more important than being 'whole' or 'perfect'.
And then, again, there are people born with nothing physically wrong with them but with things like debilitating anxiety or depression.
Que sera, sera?
The one sentence that I read that really confused me was were one of the parents was quoted "There is only fluid where the cerebellum and pons should be."
This could be misinterpreted to mean that where the pons normally is there is now nothing but cerebrospinal fluid. This would really be utterly mysterious, but it is also not the case. I've read the blog the mother kept and in the progression of events it becomes clear that they knew the cerebellum was missing before Chase's first birthday, but they (Dr. Senn, entry July 22, 2009) also speaks of maturation of Chase's brain and a stable condition of his brainstem.
It would be interesting to learn how something went (terribly) wrong in with his prenatal neuronal migration since he has had underwent (seemingly normal) cerebellar morphogenesis, testified by ultrasound scans and how other areas of the brain are taking over a small part of the functionalities of his missing cerebellum.
Maybe a part of the boy's brain managed to take over the function of the cerebellum, perhaps he was young enough to adapt.
I have heard of people who were paraplegic and their brain managed to rewire itself to regain use of their limbs.
This is very rare though, only a few cases are known.
Very interesting, i can only assume as other have said that his continued functionality is due to the plasticity of the infant brain and so other parts are taking over the movement co-ordination function of the cerebellum.In fact after reading this i whipped out a copy of Zilmer and Spiers - Principles of neuropsychology and they state "There is evidence that people born without a cerebellum can function completely normally, because other brain structures have adapted to take over those functions" (pg. 94) so this is not that unusual
More concerningly for me is the lack of a pons since it is a major sensory interchange of sorts and is involved in the sleep wake cycle. Damage to the pons can kill you but i assume similarly to the cerebellum, damage does not equal born without one due to the brain's plasticity.