Searching for Similar Diagnosis Through DNA

[Guest guest]

AND what BEHAVIOUR? ENVIRONMENTAL? event caused the not acting gene or sequencing variables/ Bet we have some direct answers....NG

Searching for Similar Diagnosis Through DNA

With technology that can now scan each of an individual's 46chromosomes for minute aberrations, doctors are providing thousands ofchildren lumped together as "autistic" or "developmentally delayed"with distinct genetic diagnoses. The symptoms, they are finding, canbe traced to one of dozens of deletions or duplications of DNA thatwere previously hard or impossible to detect.Story:http://www.nytimes.com/2007/12/28/health/research/28dna.html?hp

[Guest guest]

My son's neurologist said that they can collect the data but they

still haven't figured out what to do with it. We decided not to

subject my son or ourselves to another invasive and potentially

useless blood draw.

Gayatri

>

> AND what BEHAVIOUR? ENVIRONMENTAL? event caused the not acting

gene or sequencing variables/ Bet we have some direct answers....NG

> Searching for Similar Diagnosis Through DNA

>

>

> 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.

>

> Story:

> http://www.nytimes.com/2007/12/28/health/research/28dna.html?hp

>

[Guest guest]

We've had over $50,000 in genetics tests with the top

neurometabolicgeneticist in the country. NADA. Nothing. Not a

scintilla of help for my kids. USELESS.

KIM

[Guest guest]

Some have stated only muscle biopsies can truly eliminate any problem

with the mitochondria, which can be the source of a lot of metabolic

problems. We've had " genetic testing " from serum & urine, didn't find

anything.

>

> My son's neurologist said that they can collect the data but they

> still haven't figured out what to do with it. We decided not to

> subject my son or ourselves to another invasive and potentially

> useless blood draw.

>

> Gayatri

>

>

[Guest guest]

New York Times

http://tinyurl.com/yrades

December 28, 2007

The DNA Age

Searching for Similar Diagnosis Through DNA

By AMY HARMON

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 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 Houk, '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 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: 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.

: The Search

If one of his siblings is sitting at his place at the breakfast

table, screams. If a schoolmate gets too close to him,

screams. If someone interrupts him while he is speaking,

screams.

" You ruined my talk! " shrieks the sweet-faced boy who must

concentrate intently to string his words together.

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 and Jennie

Dopp when they recounted a difficult day with . " 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 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. -Magenis syndrome. Velocardiofacial

syndrome. Negative, negative, negative.

Desperate for a diagnosis, this February, the Dopps took to a

psychiatrist. He told them was autistic.

" Autism covers so much, " Mr. Dopp, a manager at American Express,

complained to his wife. " It doesn't mean anything. " And 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 '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 's disabilities, they grew frustrated.

" You say autism, or Down syndrome, and people know somebody, " said

Ms. Dopp, who stays home with 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 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.

, 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 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, , 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 " , " 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, 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@...