earching for Similar Diagnosis Through DNA
The girls had never met, but they looked like sisters.
There was no missing the similarities: the flat bridge of their noses, the thin lips, the fold near the corner of their eyes. And to the families of 14-year-old Samantha Napier and 4-year-old Taygen Lane there was something else, too. In the likeness was lurking an explanation for the learning difficulties, the digestion problems, the head-banging that had troubled each of them, for so long.
Several of the adults wiped tears from their eyes. “It’s like meeting family,” said Jessica Houk, Samantha’s older sister, who accompanied her and their mother to a Kentucky amusement park last July to greet Taygen.
But the two families are not related, and would never have met save for an unusual bond: a few months earlier, a newly available DNA test revealed that Samantha and Taygen share an identical nick in the short arm of their 16th chromosomes.
With technology that can now scan each of an individual’s 46 chromosomes for minute aberrations, doctors are providing thousands of children lumped together as “autistic” or “developmentally delayed” with distinct genetic diagnoses. The symptoms, they are finding, can be traced to one of dozens of deletions or duplications of DNA that were previously hard or impossible to detect.
Some mutations are so rare that they are known only by their chromosomal address: Samantha and Taygen are two of only six children with the diagnosis “16p11.2.”
Few of these mutations were inherited in the traditional sense, and the affected children are typically the only family member with the disorder. So, many parents are searching out strangers struck by the same genetic lightning bolt. They want solace, advice and answers to what the future might hold. From other families of children with the same chromosomal anomaly, they are seeking insight into their own. Sometimes what they find is unsettling. But in the emerging communities of the genetically rare, more often it is sustaining.
For three families, the impulse to find others in the same situation was immediate.
A few months before the Lanes crossed the state to meet Taygen’s chromosomal cousin, Jennie Dopp, a mother in Utah, was scouring the Internet for families with “7q11.23,” the diagnosis that explained her son’s odd behavior and halting speech.
“I want someone to say ‘I know what you mean,’” Ms. Dopp told her husband, “and really mean it.”
Noa Ospenson’s parents flew from Boston to South Carolina for a meeting of 100 families with children who, like Noa, are also “22q13.” Hoping for more information about their daughter’s diagnosis, they emerged as lifetime members of what they call “Noa’s tribe.”
For each of them, a genetic mutation became the foundation for a new form of kinship.
Jackson: The Search
If one of his siblings is sitting at his place at the breakfast table, Jackson screams. If a schoolmate gets too close to him, Jackson screams. If someone interrupts him while he is speaking, Jackson screams.
“You ruined my talk!” shrieks the sweet-faced boy who must concentrate intently to string his words together.
Jackson has been to so many sleep doctors because of a bone structure that obstructs his airway that he wants to be one when he grows up. He talks to himself in church. No matter how many times, or how gently, his father asks him to play catch in the yard of their home in Layton, Utah, he refuses. He prefers to play in his tree house, by himself.
“Don’t worry about it,” family members often told Ryan and Jennie Dopp when they recounted a difficult day with Jackson. “My kid is just like that.”
“Your kids,” Ms. Dopp finally snapped at her sister one afternoon, “are nothing like this!”
But for the first seven years of his life, the Dopps could not figure out what made Jackson different. They took him to neurologists and psychologists. He had three brain M.R.I.’s. And then there were the annual trips to the geneticist.
About one in 500 children are born with a chromosomal disorder, the geneticist, Dr. Alan Rope, told them. Such disorders are responsible for an unknown fraction of cases of mental retardation and autism as well as birth defects like a cleft palate or heart and kidney defects. Down syndrome, which occurs in individuals with an entire extra 21st chromosome in addition to the usual pair, is the most common, and the easiest to identify. But there were some 100 known disorders involving subtler duplications or deletions of pieces of chromosomes that were considerably harder to detect, Dr. Rope said. And he could test for only one at a time.
Fragile X syndrome. Smith-Magenis syndrome. Velocardiofacial syndrome. Negative, negative, negative.
Desperate for a diagnosis, this February, the Dopps took Jackson to a psychiatrist. He told them Jackson was autistic.
“Autism covers so much,” Mr. Dopp, a manager at American Express, complained to his wife. “It doesn’t mean anything.” And Jackson did not quite seem like the other autistic children they knew.
Finally, at an appointment in March, the geneticist told them that a technology known as DNA microarray analysis had become available and that it could test all known chromosomal disorders at once. At about $3,000, it was expensive, but one of the major insurers in the state had just agreed to cover it.
When Dr. Rope called to say that there was an extra stretch of DNA in the middle of Jackson’s seventh chromosome, the Dopps rejoiced. His oddness was not the result of bad parenting. Nor was he just a little “off,” as so many people had suggested. Perhaps, Ms. Dopp dared to fantasize, there would one day be a cure for her son. At least now they knew where to look.
But as the Dopps began to tell friends and family members about the source of Jackson’s disabilities, they grew frustrated.
“You say autism, or Down syndrome, and people know somebody,” said Ms. Dopp, who stays home with Jackson and his three siblings. “When you try to explain 7q to people and they barely know what a chromosome is, it’s hard.”
And Dr. Rope had little to offer by way of practical information.
“He said Jackson was the only one he had ever seen,” Ms. Dopp told her husband.
Although they had shied from autism support groups, now they yearned for somewhere to fit in. Finally, Ms. Dopp called an acquaintance whose child had Down syndrome. She had heard of an organization in Britain called Unique that seeks to link families with rare chromosomal disorders.
Ms. Dopp immediately sent away for the registration material. In the packet she received were the e-mail addresses of six other 7q11.23 families.
Jackson, she learned, was one of 11 known children in the world with the DNA duplication. The Dopps were the only one of those families in Utah. She wanted to meet them all. But for now, there was e-mail.
“We have seen occupational therapists, physical therapists, geneticists, speech therapists, neurology, cardiology and eye doctors,” Ms. Dopp wrote. “Have you found certain therapies that work better than others? What doctors have you seen? Do you have any issues with intestinal problems, behavior, autism?”
She could not type fast enough.
Taygen: The Meeting
The genetic counselor at the University of Louisville Hospital put Gaylene Napier and Heather Lane in touch. The deletion of DNA on their daughters’ 16th chromosome had never before been detected.
In the fall, pictures of the girls would appear in a scientific journal: “Discovery of a previously unrecognized microdeletion syndrome of 16p11.2—p12.2.”
The first time the mothers spoke, they stayed on the phone for hours.
Taygen was learning to hop, Ms. Lane, an office administrator, told Ms. Napier. Her occupational therapy was going well. Then Ms. Lane blurted out what she never said to other mothers.
“I just hate that she has to struggle to do things that we all take for granted,” she said.
The Lanes live in Benton, in western Kentucky. The Napiers live in Berea, on the other side of the state. Immediately, they made plans to meet at Beech Bend, an amusement park in the middle.
Ms. Lane stayed in a hotel room nearby the night before with her husband, Dustin, and her mother, Debbie Duckett.
As Sami and Taygen rode the carousel together, Ms. Duckett peppered Ms. Napier with questions.
Was Sami sensitive to small noises? Even a cough or a sneeze can make Taygen shudder.
Sami, Ms. Napier said, makes her unplug the clock every night because she cannot stand the ticking.
Taygen is often sweet and then nasty in bewildering succession.
Sami slaps you and then hugs you, Ms. Napier said. You never know what is coming next.
Taygen does not cry when she is hurt.
Neither does Sami.
They had started trying to potty train Taygen. Sami, Ms. Napier said, had learned when she was 7.
The head-banging and rocking had tapered off for Sami when she was a few years older than Taygen, Ms. Napier said. But she still had painful constipation.
“Oh,” Ms. Duckett sighed. “I hoped she was going to grow out of that.”
Ms. Lane could not take her eyes off Sami. She did not want to miss any detail.
The 14-year-old Sami wore slip-on shoes, because she could not tie laces. When she was concentrating, she hooked the tip of her index finger onto her bottom front teeth and kept it there.
After splashing in the kiddie pool, Sami curled up in her mother’s lap as Ms. Napier wrapped her in a towel. Later, Ms. Napier wiped her face as ice cream dribbled down her chin.
But she was different from Taygen. Sami had been given a diagnosis of mild retardation. Not Taygen, who had had speech therapy and physical therapy starting at nine months.
Sami could count only to 14, and was just learning her colors. Taygen knew all of her colors, though there were certain numbers, like “3,” that she refused to say.
It got easier, Ms. Napier, a factory inspector, told them. Sami has fewer tantrums. She had just recently learned her letters, matching each one to a person she loved. “J” for “Jessica,” her sister. “C” for “Carey,” her cousin.
Ms. Duckett asked Ms. Napier if Sami had started her period. They had wondered if Taygen would be able to have children.
She had, Ms. Napier said, right on schedule.
But did she think, Ms. Duckett persisted, that Sami would ever grow up and lead a normal life — have a home, a job, a car? “Or do you think these kids will always be at home?”
Ms. Napier looked at her. “I don’t know,” she said.
On the way home, Mr. Lane told his wife that he was sorry for Sami. Later, he cried. He hated to think, he said, that Taygen would be like her one day.
But they knew so much more than Ms. Napier had, Ms. Lane told him. Who was to say that Taygen would be just like Sami? “Besides,” she said. “Sami is happy. She doesn’t know there’s anything wrong.”
The following week, Mr. Lane moved out. It had nothing to do with the visit, he said. He said he had been unhappy for years.
“Do you think we scared him?” Ms. Napier asked Ms. Lane when they next spoke. She herself had been divorced when Sami was about Taygen’s age.
Maybe, Ms. Lane said. But then, weren’t they all scared?
Ms. Napier sent pictures of the girls from that visit. Ms. Lane keeps her favorite one on her desk.
Noa: The Tribe
The hotel atrium was teeming with 22q13 children. Some were flapping or crawling on the floor. Some were in wheelchairs or oversize strollers. Others were in their parents’ arms. They were making sounds like Noa made, a guttural growl hovering on the edge of language, the kind of sound that made Noa’s father, Jim Ospenson, yearn all the more to hear her voice.
Noa, now age 4, does not speak.
In the month since Noa had been designated “22q13,” her parents, Mr. Ospenson and Meryl Perlson, had already found two other children with the same chromosomal deletion.
They had read the Web site, recently assembled by the 22q13 Deletion Foundation, whose numbers were growing rapidly along with the accuracy of DNA diagnoses.
And then they went to the biennial meeting of 22q13 families in July 2006. But that first day, in Greenville, S.C., they wondered if they had made a mistake.
Few of the children, even the handful of teenagers, were toilet trained. Some had never gained the use of their hands, which had stiffened into a claw-like shape. Many were chewing on rubber tubes or “chew rags,” to keep them from shredding their clothes.
Ms. Perlson, a communications consultant, and Mr. Ospenson, a computer analyst, attended sessions on one of the genes that Noa is missing, which codes for a protein crucial to neurological development. They learned about the health problems, like seizures and kidney failure, that Noa might face in her 20s. The window onto her future was hard to digest.
But outside the lecture rooms, they found, unexpectedly, that they were enjoying themselves. Ms. Perlson’s mother, Claire Briller, made friends with Morton, a chunky 10-year-old who grabbed at passers-by from his wheelchair and tried to hold their hand. His parents had come from Denmark, and the family spoke little English. But on a number of occasions, Ms. Briller walked with Morton through the halls as he held tight to her arm. “I felt attached to him, like he was the same as Noa ,” she told her daughter.
In the area behind the hotel, Mr. Ospenson watched another father play catch with his older son as his 22q13 son roamed around the grass. At the bar on the second evening, Ms. Perlson sat with a group of mothers. One told a story about being pulled over by a state police officer while speeding. In her car were several large packages of adult diapers, the size her 22q13 child now wore. The police officer did not seem to want to contemplate the explanation. He waved her on.
Everyone laughed. And for the first time that weekend, Ms. Perlson did, too. “Oh, my God,” she thought, “maybe this is going to be O.K.”
The next day, Mr. Ospenson and Ms. Perlson watched Noa play on the floor with several other children. Some of them, because of the low muscle tone associated with the syndrome, flopped over. They all had the hallmark appearance of the syndrome, the flaky toenails, puffy eyes and cheeks, long eyelashes.
Looking at them, Mr. Ospenson said, made him think less about 22q13 for a moment than about how such a tiny bit of missing DNA could make such a big difference in how humans work.
He found himself looking forward, he said, “to seeing those kids grow up alongside my own.”
E-mails to Amy Harmon about this series may be sent to: dna@nytimes.com
//////////////////////MORNING AFTR -C CHUTTO-ASSSN
///////////////////////Use the "Rule of Three" when deciding whether to buy something nonessential. If I can think of three practical uses for an item I am considering buying, it's worthwhile. For example, I bought a new convertible sofa to use as seating for company, a spare bed for overnight guests and a comfortable place to read.
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mbarrassment happens to everyone. It's a normal, healthy response to making a public mistake. If we can learn how to handle those awkward moments better, we can improve relationships with friends and family... boost our standing in the workplace... and even enhance our self-image. HOW WE REACT
Blushing or casting eyes downward communicates to others that we're embarrassed. This can be a good thing. People are more likely to forgive us when we display these signs of embarrassment.
The trouble is, rather than just blush and get on with life, most people reflexively attempt to recover lost pride through strategies that, in truth, only make bad situations worse. The three most common...
Example: You tell your boss that you have completed a task because you're too embarrassed to admit that you forgot about it -- then you rush to get the task done before your lie is discovered.
Because few things are more embarrassing than being caught in a lie, this opens the door to far greater embarrassment later.
Example: While driving on the highway, you miss your exit and criticize your spouse for not warning you.
Withdrawing, lying or lashing out can poison relationships with family, friends and coworkers -- and risk transforming embarrassment into shame. Embarrassment stems from a perceived decline in social image. Shame comes from a decline in self-image. Of the two, shame is the stronger emotion and much harder to let go of. What began as a faux pas can lead to a downward spiral of declining faith in one's own worth.
COPING STRATEGIES
The next time you embarrass yourself, focus on the physical symptoms of your embarrassment. Feel your heartbeat quicken and cheeks redden. Notice how your breathing becomes more rapid and your muscles tense. These also are the symptoms of panic. Ironically, by focusing on these symptoms, we can prevent ourselves from panicking.
The part of the brain that we use to track our symptoms isn't the part that panics. If you keep your focus on the symptoms, you should feel more tranquil, which gives you a chance to come up with a productive response to the situation. Some smart reactions to embarrassment...
Example: You have just knocked over a display in a crowded store. Lean over to your companions and joke, "It's okay -- you can pretend that you don't know me."
Example: A broker trainee who failed his licensing exam decided to share the news with his coworkers. When he did, they opened up about their own testing and education failures. He felt better --and the office became a closer, friendlier place to work.
Example: You say to a colleague, "I feel awful that I called John 'Jim' in the meeting." Odds are that the colleague will rally to support you. He also may offer suggestions on how to repair the situation, such as apologizing to John.
Example: In one study, participants were asked to walk through a crowded room while wearing an embarrassing garment. Later, when they estimated how many people noticed, they greatly overshot the true figure.
Example: If you flubbed a presentation in front of a room full of people, it was only because you had the courage to stand up in front of the group in the first place.
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Happy Birthday Johannes Kepler
December 27 is a day to celebrate the life of astronomer Johannes Kepler, who was born on this date in 1571, and is best known for his three laws of planetary motion. But also, coming up in 2009, The International Year of Astronomy (IYA) will celebrate the work of Kepler as well. Not only did Galileo begin his observations with a telescope almost 400 years ago in 1609, but also in that year Kepler published his book New Astronomy or Astronomia Nova. This was the first published work that documented the scientific method.
(more…)
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Flat Lands
Countries with the lowest high points:
- Maldives: 2 meters
- Tuvalu: 5 meters
- Tokelau: 5 meters
- Cocos (Keeling) Islands: 5 meters
- Marshall Islands: 10 meters
- Cayman Islands: 43 meters
- Turks and Caicos Islands: 49 meters
- The Gambia: 53 meters
- The Bahamas: 63 meters
- Anguilla: 65 meters
The Maldives may eventually disappear altogether — sea levels have risen about 20 centimeters in the last century.
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Unquote
"To be agreeable in society, you must consent to be taught many things which you already know." — Talleyrand
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Earth's Movement Triggered Human Evolution
Royhan and Nahid Gani of the University of Utah, Energy and Geoscience Institute.
The scientists argue that the "Wall of Africa" - an accelerated uplift of mountains and highlands stretching from Ethiopia to South Africa- blocked much ocean moisture, converting lush tropical forests into an arid patchwork of woodlands and savannah grasslands that gradually favored human ancestors who came down from...
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The Cosmos in a Test Tube
Richard Haley -Lancaster University
A "universe in a test tube" that could be used to prove theories of everything has been created by physicists using liquid helium and a magnetic field to build a finger-sized representation of the early cosmos.
The low-temperature team at Great Britain's Lancaster University may have found a laboratory test of the ‘untestable’ string theory, made popular by Brian...
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Today is Dec 28, 2007.
I've had a few arguments with people, but I never carry a grudge. You know
why? While you're carrying a grudge, they're out dancing.
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Chapter VIII: The Yoga of the Indestructible Brahman
VIII.9. KAVIM PURAANAMANUSHAASITAARAM
ANORANEEYAAMSAM ANUSMAREDYAH;
SARVASYA DHAATAARAM ACHINTYAROOPAM
AADITYAVARNAM TAMASAH PARASTAAT.
(Krishna speaking to Arjuna)
Whosoever meditates on the Omniscient, the Ancient, the ruler (of
the whole world), minuter than an atom, the supporter of all, of
inconceivable form, effulgent like the sun and beyond the darkness
of ignorance,
VIII.10. PRAYAANAKAALE MANASAACHALENA
BHAKTYAA YUKTO YOGABALENA CHAIVA;
BHRUVORMADHYE PRAANAMAAVESHYA SAMYAK
SA TAM PARAM PURUSHAM UPAITI DIVYAM.
At the time of death, with unshaken mind, endowed with devotion
and by the power of Yoga, fixing the whole life-breath in the
middle of the two eyebrows, he reaches that resplendent Supreme
PANGON
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http://www.businessweek.com/ap/tech/D8TPA7A00.htm
Did Alexander Graham Bell steal the idea of the telephone?
///////////////////Person. ~Buddy Hackett~
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  | Rich life emerges from nature's freezer Tiny channels in the Arctic ice support creatures that play a crucial role in climate-affected ecosystems. |
///////////////////////////// Humans 'drive out large mammals'
The number of large mammals has fallen sharply across most of the planet as a result of human activity, a study says.
////////////////////The technology with impact 2007
The BBC News technology team looks back at personal technology favourites of 2007.
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De-Fen Yao, World's Tallest Woman at 7 Feet 8 Inches
Posted: 27 Dec 2007 08:42 AM CST
At 7 feet 8 inches, De-Fen Yao, is considered the world's tallest woman. Her abnormal growth was due to Acromegaly, a disease resulting from a tumour on the pituitary gland causing it to pump out excess growth hormone, that inflicted her when she was 15 years old. Link/////////////////////////////
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