Re: Re: chromosome analysis

[Guest guest]

Thanks, Maureen. Unfortunately we are currently in TX, but I might get back

with you since we are moving to Upstate NY in June. I don't know how long

the referral process takes here. If we cannot see a genetecist before we

move we might come down to NY. My husbands family lives in NYC.

Thanks,

Anja

On Tue, Apr 14, 2009 at 5:57 AM, Maureen <mosense@...> wrote:

>

>

> My 7dd has a deletion on 2. The genetics doctor said he has seen kids wiht

> deletions on this chromosome have speech issues. If you are any where near

> NYC--he is very, very respected and I could give you his name.

>

>

> >

> > Hi, my daughter is 4 and has been diagnosed with apraxia by her speech

> > pathologist and PDD-NOS by the neurologist. He believes that her delays

> are

> > due to a genetic problem and ordered FISH studies. The results just came

> in

> > and they found a deletion on Chromosome 16p11.2-12.2.

>

>

>

[Guest guest]

Thank you! That is all I could find also. We will definitely get another

opinion. We have had a referral in for a dev. peds since Nov but still on

the waiting list....I personally do not think my daughter is autistic. She

is very social and only shows a couple of autistic traits, but my perfectly

healthy normal son did too when he was younger (he used to line up cars

Anja

On Mon, Apr 13, 2009 at 8:05 PM, kiddietalk <kiddietalk@...> wrote:

>

>

> Doesn't look like this deletion is common for autism as from what I read

> it's only in 1% of cases in autism

>

> Association between Microdeletion and Microduplication at 16p11.2 and

> Autism

>

> " Conclusions We have identified a novel, recurrent microdeletion and a

> reciprocal microduplication that carry substantial susceptibility to autism

> and appear to account for approximately 1% of cases. "

> http://content.nejm.org/cgi/content/full/NEJMoa075974

>

> There isn't much out there on the exact deletion your child has. What that

> tells me is that perhaps many of our children have it, perhaps it's

> rare...but it's still an unknown area for the most part. I wouldn't assume

> it means your child is autistic based on that alone -that's for sure! So I'd

> seek a second opinion on the " PDD NOS " diagnosis because you only want the

> autism diagnosis if your child is autistic...not just because one doctor

> assumes it. And you know what? Many of us have children that were put

> through testing because some sort of genetic issue was " suspected " and in

> most cases thus far nothing showed up. So just because it was suspected also

> doesn't mean that your child is different in that way from mine or many

> others. I'm happy you are going to the geneticist -but please also seek a

> second opinion (again) to get rid of the PDD NOS diagnosis if your child is

> not autistic.

>

> The goal for appropriate diagnosis is appropriate therapy.

>

> Here's an article I found from over a year ago from the archives:

>

> " 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. "

>

> 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@...

>

> =====

>

[Guest guest]

Anja-

If you want a Geneticist in the NY/NYC region-- the best out there is a

woman named

Chung.

We've just been referred to her and the recommendations come from several

high profile Dr's

Becky

In a message dated 4/14/2009 9:39:29 A.M. Eastern Daylight Time,

anjasanchez@... writes:

Thanks, Maureen. Unfortunately we are currently in TX, but I might get back

with you since we are moving to Upstate NY in June. I don't know how long

the referral process takes here. If we cannot see a genetecist before we

move we might come down to NY. My husbands family lives in NYC.

Thanks,

Anja

On Tue, Apr 14, 2009 at 5:57 AM, Maureen <_mosense@..._

(mailto:mosense@...) > wrote:

>

>

> My 7dd has a deletion on 2. The genetics doctor said he has seen kids

wiht

> deletions on this chromosome have speech issues. If you are any where

near

> NYC--he is very, very respected and I could give you his name.

>

>

> >

> > Hi, my daughter is 4 and has been diagnosed with apraxia by her speech

> > pathologist and PDD-NOS by the neurologist. He believes that her

delays

> are

> > due to a genetic problem and ordered FISH studies. The results just

came

> in

> > and they found a deletion on Chromosome 16p11.2-12.2.

>

>

>

[Non-text portions of this message have been removed]

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[Guest guest]

Thanks, I already started exploring the website Most of my daughters

problems are her speech as well. She has profound apraxia and some motor

issues as well as hypotonia.

Anja

On Tue, Apr 14, 2009 at 12:10 PM, meroby <meroby@...> wrote:

>

>

> Anja,

> Sounds like you should visit the website for children with chromosome

> abnormalities: CDO (http://www.chromodisorder.org/CDO/Default.aspx). my

> daughter was diagnosed at birth with a chromosome abnormality and i have

> found this site (also a group) SO helpful. She has a 9p22 deletion,

> 5q33 trisomy (the only one!)

>

> The most unifying theme of children with chromosome abnormalities is: they

> usually are the only one with their particular arrangement, and they have a

> wide variety of developmental delays and health issues. But the common

> threads of chromosome abnormailities in general is helpful to learn from

> others and their experiences. My daughter's severe speech delay/verbal

> apraxia brought me here.

>

> I'm sorry to welcome you to the club, but it is a wonderful thing to have a

> diagnosos now.

>

> Best of luck,

>

>

>

>

[Guest guest]

Thank you for the recommendation.

Anja

On Tue, Apr 14, 2009 at 11:54 AM, <tbniesh@...> wrote:

>

>

> Anja-

>

> If you want a Geneticist in the NY/NYC region-- the best out there is a

> woman named

> Chung.

> We've just been referred to her and the recommendations come from several

> high profile Dr's

>

> Becky

>

>

> In a message dated 4/14/2009 9:39:29 A.M. Eastern Daylight Time,

> anjasanchez@... <anjasanchez%40gmail.com> writes:

>

> Thanks, Maureen. Unfortunately we are currently in TX, but I might get back

> with you since we are moving to Upstate NY in June. I don't know how long

> the referral process takes here. If we cannot see a genetecist before we

> move we might come down to NY. My husbands family lives in NYC.

> Thanks,

> Anja

>

> On Tue, Apr 14, 2009 at 5:57 AM, Maureen

<_mosense@...<_mosense%40.mos>_

>

> (mailto:mosense@... <mosense%40>) > wrote:

>

> >

> >

> > My 7dd has a deletion on 2. The genetics doctor said he has seen kids

> wiht

> > deletions on this chromosome have speech issues. If you are any where

> near

> > NYC--he is very, very respected and I could give you his name.

> >

> >

> > >

> > > Hi, my daughter is 4 and has been diagnosed with apraxia by her speech

> > > pathologist and PDD-NOS by the neurologist. He believes that her

> delays

> > are

> > > due to a genetic problem and ordered FISH studies. The results just

> came

> > in

> > > and they found a deletion on Chromosome 16p11.2-12.2.

> >

> >

> >

>

>

[Guest guest]

I am interested in knowing , who orders genetic testing, What comes out of this

testing  can help parents ?? is it diagnosis or the areas in which we need to

concentrate , therapies on.

thanks,

roopa

________________________________

From: Anja <anjasanchez@...>

Sent: Tuesday, April 14, 2009 2:34:57 PM

Subject: Re: [ ] Re: chromosome analysis

Thanks, I already started exploring the website Most of my daughters

problems are her speech as well. She has profound apraxia and some motor

issues as well as hypotonia.

Anja

On Tue, Apr 14, 2009 at 12:10 PM, meroby <meroby (DOT) com> wrote:

>

>

> Anja,

> Sounds like you should visit the website for children with chromosome

> abnormalities: CDO (http://www.chromodi sorder.org/ CDO/Default. aspx). my

> daughter was diagnosed at birth with a chromosome abnormality and i have

> found this site (also a group) SO helpful. She has a 9p22 deletion,

> 5q33 trisomy (the only one!)

>

> The most unifying theme of children with chromosome abnormalities is: they

> usually are the only one with their particular arrangement, and they have a

> wide variety of developmental delays and health issues. But the common

> threads of chromosome abnormailities in general is helpful to learn from

> others and their experiences. My daughter's severe speech delay/verbal

> apraxia brought me here.

>

> I'm sorry to welcome you to the club, but it is a wonderful thing to have a

> diagnosos now.

>

> Best of luck,

>

>

>

>