Monday, April 29, 2013

Meaningful employment for those with disabilities?

My son is not old enough for a full time job.  He is still a full time student.  But a question that I am sure must nag all parents who have a child with a disability is how will my child support themselves when they are older?  We all also want to enjoy our career, so how do I make sure he has a career that he actually enjoys and feels like a productive member of society?  He is an interesting article I found this morning.

Finding meaningful employment a challenge for those with developmental disabilities

April 29, 2013
Ryan Banning looks through one of his vending machines at the Lawrence Airport. Banning has operated his own vending machine business, Ryan's Vending Services, for more than a decade. Banning has Down syndrome, a condition that can limit employment options.
Ryan Banning looks through one of his vending machines at the Lawrence Airport. Banning has operated his own vending machine business, Ryan's Vending Services, for more than a decade. Banning has Down syndrome, a condition that can limit employment options.
Lawrence man Ryan Banning is in every sense of the word an entrepreneur. For more than a decade, Banning, 36, has operated his own business, Ryan’s Vending Service, managing a dozen or so vending machines in Lawrence.
He’s always looking to expand, he said as he loaded the soda and snack machines at the Lawrence Municipal Airport recently.
And the bottom line for Ryan, who has Down syndrome, is that he enjoys the work and turns a profit.
“He’s earning, he's paying taxes," said Martha, his mother, who helped conceive of the business idea when Ryan finished high school. "It's been a really good fit for him."
'School to the couch'
Ryan needs a little help with his small business. A job coach drives him to pick up supplies at Sam's Club and to several local locations, including Visiting Nurses Association and a Kansas University fraternity. Ryan’s father, Bob, helps obtain the vending machines and supplies, and runs the financial side of the business.
While Ryan has found work that he enjoys, he's the exception for those with developmental disabilities, said Judith Gross, a research associate with the Kansas University’s Beach Center, which advocates for those with disabilities.
“They graduate from school to the couch,” missing out on socialization and a general sense of self-worth, Gross said. “Work is an important part of everyone’s life.”
And it's the type of work that makes a big difference, according to Rocky Nichols, executive director of the Disability Rights Center of Kansas.
While many with developmental disabilities find sub-minimum wage work in very structured workshop settings, that shouldn't be the goal, Nichols said. The focus should be on employment in a typical job setting where those with developmental disabilities work alongside those without disabilities.
But finding jobs, and employers willing to work with those with developmental disabilities, isn't easy.
According to a 2011 report from the National Association of Councils on Developmental Disabilities, only 14 percent of adults with a developmental disability are employed in the competitive workforce.
Overland Park woman Tracey Dickey knows the struggles firsthand. Her son, Cole, a student at Blue Valley Northwest, has one year left in school, and she’s been fighting for the past several years to find Cole a job when when he graduates.
“It’s scary,” she said. “He has one year left, and then what? It keeps me up at night.”
Tracey and her son have explored a variety of options, such as supported employment programs, but such programs have waiting lists. And her son has limitations, such as not being able to work a full shift.
“The job market is tough,” she said. “And he’s competing with people who probably can pull an eight-hour shift.”
Gross and the Beach Center launched Family Employment Awareness Training, or FEAT, in 2010 to help families like Cole’s navigate the complex social service of job coaches, supported employment programs and other benefit services. At trainings for those with disabilities, Gross invites those such as Ryan and his family to speak to other families facing hurdles.
The biggest hurdle, Gross said, often is convincing families that those with a developmental disability can and should work in a meaningful job.
There will be struggles, and it takes a dedicated support system. But Martha Banning said the work is well worth it for Ryan and his whole family. “It’s so important to his quality of life,” she said.
Martha’s advice to other families is to keep fighting, find work that your child enjoys and connect with other local families facing similar barriers.
Ryan, meanwhile, has become accustomed to the perks of operating his own business. He likes to finish his 20 to 30 hours of work early in the week if he can and cut out by Thursday, enjoying a long weekend.
While he performs all the day-to-day work of the business, his goal is to eventually hire employees so he can focus on overseeing the operation.
“Someday, I want to be the boss,” he says.
As only the boss can do, he’s quick to offer guests a soda from his machine.
“It’s on me,” he says.

Be gentle.

Wednesday, April 17, 2013

National Down Syndrome Registry. Research and progress

National Down Syndrome Patient Registry

What is the National Down Syndrome Patient Registry?

The NIH-supported National Down Syndrome Patient Registry will allow people with Down syndrome and their family members, researchers, and parent and support groups to share information and health history in a safe, confidential, online database. Users will be able to create and edit their customizable online profiles, share their profiles with other Registry users, and set reminders for medical care and other appointments and events. The Registry will also provide access to general information about Down syndrome, as well as de-identified statistical data based on user responses to survey questions.

When will the National Down Syndrome Patient Registry be available?

Currently, the anticipated launch date for the Registry is July 2013.

Who can access the Registry?

Those with Down syndrome and their families will need to provide their consent for the Registry before they can create their password-protected profiles. If a user gives permission to be contacted, then clinicians and researchers who are authorized will contact these individuals to see if they are interested in participating in research studies. The Registry will comply with all regulations and laws governing privacy, personally identifiable information, and health data.

Why do we need a National Down Syndrome Patient Registry?

Creating a national registry was a primary recommendation of the 2007 NIH Down Syndrome Research Plan, which helped set goals and objectives for the Down syndrome research field. The development of the national registry was also supported by the Down Syndrome Consortium, a public-private partnership established in 2011 to further the exchange of information on Down syndrome research and to implement and update the Research Plan.

Be gentle.

Monday, April 15, 2013

Breaking barriers. It takes just one.

Today in the baseball world, one brave man is celebrated.  That man, Jackie Robinson, broke the color barrier and became the first black man to play in major league baseball.  An amazingly brave man, or just a man out to play the game he loved, Jackie Robinson is a hero in my mind.  How the world would be a different place today without him.

Apr 15, 1947:

Jackie Robinson breaks major league color barrier

On April 15, 1947, Jackie Robinson becomes the first African-American in the major leagues when he plays his first game with the Brooklyn Dodgers.
Jack Roosevelt Robinson was born into a family of sharecroppers on January 31, 1919, in Cairo, Georgia. He attended UCLA, where he became the first athlete to letter in four varsity sports: baseball, basketball, football and track. He served in the U.S. Army from 1942 to 1944 and was honorably discharged after facing insubordination charges for refusing to move to the back of a segregated bus.
After leaving the military, Robinson played shortstop for the Kansas City Monarchs in the Negro League. In 1945, he was recruited by Dodgers president and general manager Branch Rickey, who was determined to end the unwritten segregation rule in the majors. In 1946, Robinson joined the Dodgers’ farm team, the Montreal Royals, and went on to lead the league in batting. On April 15, 1947, 28-year-old Jackie Robinson made his Major League Baseball debut with the Dodgers, against the Boston Braves, in front of more than 25,000 spectators at Ebbets Field in Brooklyn, New York. Robinson played first base and went zero for three at the plate.
During his first season in the majors, Robinson encountered racism from opposing teams and fans, as well as some of his own teammates. However, the abuse didn’t affect his performance on the baseball field. Robinson played in 151 games, hit .297, stole more bases than anyone else in the National League and was awarded the first-ever Rookie of the Year title. In 1949, Robinson, who had switched to playing second base, was named the National League’s Most Valuable Player. The next year he became the Dodgers’ highest paid player, earning a salary of $35,000. In 1955, Robinson helped the Dodgers defeat the New York Yankees to win the World Series. He retired from baseball after playing his last game on October 10, 1956, with a career batting average of .311, 1,518 hits and 137 home runs.
After leaving baseball, Robinson worked as a business executive and continued his involvement in civil rights causes. On October 24, 1972, he died at age 53 from heart problems and complications related to diabetes. Robinson became the first African-American inducted into the Baseball Hall of Fame in 1962, his first year of eligibility. In 1997, on the 50th anniversary of his historic first game in the majors, Robinson’s uniform number--42--was retired by Major League Baseball.

As a parent of a child with special needs, I would love to see our children accepted into society the way Jackie Robinson finally accepted Jackie Robinson.  It was a LONG HARD road for Jackie and those that supported Jackie.  I guess this road is the road taken by us parents of a child with a special need, since our children need to be part of today;s world and a active participant in the society in which they live.

Jackie Robinson, I salute you.

Be gentle.

Friday, April 12, 2013

OH NO! It happened again. A family is denied membership because their child has Down Syndrome.

I can not believe this.  Well, maybe I can.  A family id denied membership to their local gym because their teen happens to have Down Syndrome.  Really?  You have got to be kidding. Read on to learn about this family.  Do we really need to "point out" that we have a child that is different?  I think not.

Family: Teen with down syndrome turned away from gym

Posted: Apr 10, 2013 3:39 PM PDTUpdated: Apr 10, 2013 3:50 PM PDT
(WMC-TV) - A Mid-South family with two children says they tried to join a fitness center earlier this week but were turned away because the staff was not trained to deal with one of their children, who has Down Syndrome.
"After we purchased our family membership, we could only bring three-quarters of our family," said mother Sherrie Cates.
No matter the day or circumstance, 13-year-old Mollie Cates is a happy young lady.
Her parents said they were shocked at how they were treated when they took Mollie and her older sister to Ripley Family Fitness Center Monday.
"We got turned away because of her," said father Kevin Cates.
Kevin and his wife said it was the first time all four family members had been to the gym together.
"Their brochure says they don't turn anyone away, anyone can come in. But, we were met at the door and they said their staff isn't trained to deal with anyone like Mollie," said Sherrie.
Sherrie said her daughter is in a regular class at school and even participates in physical education. She said there is no reason she should not be able to go to the gym.
"We were never given a chance to say, 'We'll be with her. This is how we can work with her.' We were just told, 'No, there's no one here who can work with her,'" said Sherrie.
The gym is owned and operated by the city of Ripley.  City attorney Steve Crain said the gym has never come in contact with a customer with Down Syndrome.
Crain says they are working now on ways to accommodate Mollie Cates.
"She needs to be strong and healthy just like everyone else. I want her to have that chance," said Kevin.
City Attorney Steve Crain says the Cates family never included Mollie's name on the official application, which also requires a doctor's statement for membership.
Crain calls the whole thing a misunderstanding.
Copyright 2013 WMC-TV. All rights reserved.

What do you think?

Be gentle.

Wednesday, April 10, 2013

13 things not to say to a Mom of a child with Down Syndrome (according to the Huffington Post)

This is from the Huffington Post.  I have heard quite a few of these.  Have you?

13 Things Never to Say to the Mom of a Child With Down Syndrome

Posted: 04/09/2013 10:42 am
Written by Jeanne Sager on CafeMom's blog, The Stir.
People can say some of the most hurtful things. Think you've heard some truly awful stuff? Try being the parent of a child with Down syndrome.
Babies with Down syndrome are born with 47 chromosomes instead of 46, and the severity of their symptoms varies. But there are some pretty common physical signs that accompany Down syndrome, and that opens these kids -- and their parents -- up to everything from rude staring to downright cruel comments.
Sadly, some people don't even realize they're being offensive.
The Stir asked the parents of some children with Down syndrome to share some of the ridiculous comments they hear most often about their beautiful babies.
1. Oh, he looks so normal. Normal as opposed to what?
2. I'm so sorry. "What the hell are they sorry for?" asks Jennifer Lister, mom of little Riley, who refers to her daughter's condition as "Up syndrome." "For not being blessed themselves with a child who has UP syndrome?"
3. What's wrong with her face? Nothing! She was born that way!
4. She doesn't even look Downs. Kids with DS aren't carbon copies of one another!
5. They don't live very long, do they? Actually, medicine and science have come a long way. According to the National Institutes of Health, "Although many children have physical and mental limitations, they can live independent and productive lives well into adulthood."
6. I hate being told my daughter can grow up to be a Wal-Mart greeter.
7. What is going to happen to her when you die?
8. I hate hearing people telling me what they think he will and won't be able to do in the future when he isn't even a year old yet!
9. I find the Down syndrome stereotype ridiculous, that DS people are kind, loving, and gentle. Not my daughter. She is strong willed, defiant, and kind of a brat. Oh, and her teachers have called her manipulative from a very early age. Although I love her just the same!
10. I had someone ask me if I was going to have my son fixed so he wouldn't have kids.
11. When my child was in newborn care, another mother told me I was really lucky because Down syndrome babies are so placid. I am lucky, but not for that reason!
12. Did you consider abortion?
13. One doctor asked us if we wanted our daughter to have plastic surgery on her face.
What's the most ridiculous thing you've heard about a child with Down syndrome?

What do you think?

Be gentle.

Thursday, April 4, 2013

Prenatal test? Prenatal screening? Confusion...... A tough call

Technology is changing and improving so quickly in the field of prenatal screening.  But who is there for the patient and their family when this screening creates more questions?

Here is a recent article in the Wall Street Journal.  How will this technology change the way pregnancies are managed?

Tough Calls on Prenatal Tests

Companies Race to Promote New Genetic Screen for Down Syndrome; Worries About Patient Confusion

New prenatal blood tests for genetic abnormalities such as Down syndrome are reshaping care for expectant mothers, but their rapid rollout has raised fears that poorly understood results could lead to confusion among patients and doctors managing high-risk pregnancies.
Four companies, including Sequenom Inc. SQNM -4.91% and a unit of gene-sequencing firm Illumina Inc., ILMN -0.46% are vying for the new market for the tests, which examine traces of fetal DNA in the mother's bloodstream. The market has grown rapidly since the tests were first introduced in late 2011—with Sequenom alone topping 61,000 tests in 2012. The industry expects that at current rates it will run hundreds of thousands of tests this year, and many doctors believe they could fast become the standard of care for pregnant women.
Agence France-Presse/Getty Images
Ultrasound can be used to help screen for Down syndrome.
At the same time, case reports of inaccurate results—though rare—are turning up more frequently than expected, medical specialists say. They worry that in the worst-case scenario, inaccurate test results could contribute to the abortion of healthy babies.
Members of the American College of Medical Genetics and Genomics question whether the products should be called "tests" at all. The group plans to release a statement renaming them "screenings," to indicate they predict risk rather than give definitive results, according to Anthony Gregg, a board member at the college and a specialist in treating high-risk pregnancies.
As physicians begin deploying the tests more routinely, experts worry they are being used in lieu of more invasive—but more definitive—diagnostic measures such as amniocentesis, in which a needle as long as 6 inches is inserted into the womb to extract fluid. That test carries a slight risk—generally estimated at well below 1%—of inducing miscarriage. Some clinics have promoted the new tests as a safer alternative.
Test makers and experts say positive results in a blood test should be confirmed with invasive procedures. Negative results may help rule out the need for such procedures.
But there is a risk that aggressive marketing based on test performance from the early clinical trials could confuse physicians and patients with complex information, said Girish Putcha, a practicing molecular-genetics pathologist and former laboratory director for Ariosa Diagnostics Inc., one of the test makers.
In translating clinical trials—focused on high-risk women and carried out in controlled environments—"to the actual practice of medicine, the numbers usually tend to be not quite as good," Dr. Putcha said, speaking broadly about the industry. "The question is, how not-quite-as-good?"

Test Race

  • Ultrasound screening: Doctors can predict Down syndrome by seeing a thicker-than-normal layer of fluid behind the neck of a fetus. Up to 70% accurate
  • Serum tests: Combining ultrasound with blood tests seeking certain proteins can improve detection rates. Alone, the blood tests are less precise. Up to 87% accurate
  • Noninvasive prenatal testing:Fetal DNA in a mother's blood is scanned for genetic signs of Down syndrome. More than 99% accurate
  • Amniocentesis: Using a needle, doctors extract amniotic fluid from the uterus for testing. Nearly 100% accurate
Commercial performance so far tracks with clinical studies based on physician feedback, said Ken Song, chief executive of Ariosa. The company has "always been trying to position this as a screen," he said. Still, Dr. Song said, "you've got confusion because you have multiple competing interests," including competitive companies, medical societies with varying guidelines, and an array of doctors in the field with different views about the tests.
The debate shows the challenges of pushing the predictive power of genomic science from the lab into the world of work-a-day medicine. Studies funded by the companies show the blood tests accurately predict roughly 99% of positive results for Down syndrome, though some are less accurate for two other abnormalities.
The largest studies are limited to a few hundred positive results, and some exclude patients whose conditions may result in inconclusive findings, such as those with samples that lack sufficient DNA fragments related to the pregnancy or have irregularities that confuse results.
That has left women and their doctors to sort out the value and limitations of the tests in real-world clinical settings, where many patients have a strong incentive to favor a test that might help avoid amniocentesis.
"Women and physicians will do almost anything to reduce their need for invasive testing. That is why it is taking off," said Lee Shulman, chief of clinical genetics for Northwestern Medicine's obstetrics unit in Chicago. But while the tests are "a profound improvement over the tarot cards we used to use" to screen for risk, they don't replace amniocentesis, he said.
In one case, Dr. Shulman, who consults for Sequenom and Natera Inc., another test maker, said one patient who had received a positive Sequenom test result for a chromosomal abnormality arrived at his clinic seeking to terminate her pregnancy, but amniocentesis showed the fetus was normal.

The Companies Behind the Tests

Four companies have introduced new prenatal tests for Down syndrome and two other chromosomal abnormalities since late 2011. They are on track to do hundreds of thousands of tests this year.
Sequenom Inc.
The publicly traded pioneer of the industry launched its test, MaterniT21 PLUS, in the fall of 2012. Weekly sales soared last year from a few hundred per week to more than 2,500 showing the expotential curve of adoption in medical practices.
Ariosa Diagnostics Inc.
The venture-capital backed firm arrived on the market second, in May, 2012. An agreement with Laboratory Corp. of America to market the test helped pave the way for quick catch up.
Verinata Health Inc.
Just over six-months after launching a test in late May of 2012, Illumina Inc., the sequencing giant, acquired the firm in a bid to move from the business of selling genomics equipment to providing direct services in the industry.
Natera Inc.
The late-comer formally launched its version of the test last month, ahead of a forthcoming publication of a study validating its approach. The nine-year-old firm makes other prenatal tests, too.
Source: The companies, WSJ reporting
"I'm doing everything I can do to promote the message" that positive results should be confirmed with invasive testing, said Allan Bombard, chief medical officer at Sequenom. "False positives are not unexpected," he said, "and there are other things that can confound us."
The tests aren't approved by the U.S. Food and Drug Administration. So-called laboratory-developed tests, performed at a single facility with proven technical expertise, historically haven't required clearance, a policy the agency is reviewing in light of the new wave of complex genomic tests. These tests are done at the makers' own labs. Generally, test kits sold to other laboratories do require approval.
The tests have quickly changed care. At the Cleveland Clinic, doctors perform 50% fewer invasive procedures, thanks to the testing advances, said Jeff Chapa, section head of obstetrics and maternal-fetal medicine.
"This is my first child, and I'm 43. I'm not sure I want to risk this miracle that I have," said Jennifer Turcotte of Redwood, Calif., who is 14 weeks into her pregnancy and at risk of abnormalities because of her age. After learning about the miscarriage rates associated with invasive testing, she opted to receive one of the new tests at Lucile Packard Children's Hospital. The results tentatively ruled out problems. It "took a lot of that stress and anxiety away," she said.
In addition to reducing the risks of complications, the tests appeal to women because they can be performed earlier in a pregnancy—beginning at about 10 weeks, offering a head start on potentially difficult decisions.
But false-positive results raise the specter that women could choose to terminate healthy pregnancies if they don't receive appropriate follow-up care. False-negative results, which are rarer, also present a quandary for women and doctors who may not find out until much later that a fetus has an abnormality.
Some medical practices advertise the tests as a way to avoid amniocentesis. New Jersey Perinatal Associates in Livingston, N.J., describes Sequenom's MaterniT21 test in a promotional page of its website as "an alternative to traditional" methods, and notes that unlike invasive tests, it "is a simple blood test that is noninvasive to you and your baby."
"All patients want to hear that you don't need to have something invasive," said Laura Limone, genetic-counseling supervisor at the perinatal group and a member of Sequenom's speakers bureau. "Those who understand the technology find it very promising, but we also know it isn't perfect yet," and patients with positive results are advised to undergo follow-up invasive testing, she said.
In one case published online by the American Journal of Obstetrics & Gynecology, a positive result from one of the new tests—together with preliminary results from another less-precise invasive measure—prompted a patient to terminate her pregnancy without undergoing a confirmatory amniocentesis. Testing of tissue from the aborted fetus showed the pregnancy was normal, the report said.
Though companies say patients should confirm positive results with invasive procedures, such case studies show "that message isn't driven home enough," said Athena Cherry, director of Stanford University Medical Center's cytogenetics laboratory. In her lab, Dr. Cherry said she had found four out of six positive results for Trisomy 18, or Edwards syndrome, which the tests also detect, appeared to be false alarms after follow-up testing.
Sometimes, the reasons for these rare errors aren't fully understood, doctors say. Obese mothers, twin fetuses, and a phenomenon called mosaicism, in which placenta DNA differs from fetal DNA, among other things, could confuse results. In one recently reported case, researchers believe inaccurate test results were linked to a previously undiagnosed cancer in the mother.
At least one case of a false-negative report also raised questions. Verinata, Illumina's testing unit, incorrectly cleared a New York woman's fetus of Down syndrome, according to the case report presented at a medical society meeting last month. Further testing prompted by unusual ultrasound readings later determined that the fetus did, in fact, have Down syndrome, and the patient opted to terminate the pregnancy.
"I didn't know what to expect when I was told to see these specialists for this prenatal testing," said the 35-year-old woman, who asked not to be named because she hadn't discussed her abortion last fall with family members. "It was my first pregnancy so we really wanted to avoid [invasive testing] at all cost if we could. But we were getting no answers."
At the time, Verinata's testing materials claimed 100% sensitivity in detecting Down syndrome. The firm has since revised the assertion to ">99.9%."
Rachel Allen, a genetic counselor at the Poughkeepsie, N.Y., medical practice that caught the error, said she was puzzled by the test's failure. "Before we all get caught up in the hype, we really need to pay attention to how we can best utilize it," she said.
Verinata will soon publish a review of its field performance over its first nine months on the market, said Richard Rava, chief scientific officer for the testing firm. He expects the results to be "completely consistent" with the high detection rates shown in clinical trials, though he acknowledged the test had missed the New York case.
Dr. Rava said Verinata changed the statistics in its testing materials because "doctors were uncomfortable with anything on a report that said it was going to be 100% accurate."
Verinata's test reports include information about limitations, such as confidence intervals—a measure of the precision of an estimate—for such statistics, and fine print advises that patients receive additional testing "if a definitive diagnosis is desired."
The FDA has asked some of the companies for information about whether their products should be more closely regulated. A proposal to regulate certain "high-risk" laboratory tests, including the new prenatal screenings, has been in the works for two years and is under "administrative review," the agency said.
"We have been trying to plug some of the regulatory gaps," said Alberto Gutierrez, who leads the FDA's in vitro diagnostics group. "We want to make sure the performance of the test is good so people can make the decisions that they're going to make."
Sequenom recently released data suggesting its real-world performance tracked with trial results, based on physician feedback. "It's not the same type quality control as a controlled trial," Sequenom's Dr. Bombard said, though he expects doctors to proactively report unusual results. He said the company had sought to be conservative in its rollout by limiting the test to women with risk factors and recommending that it be administered in conjunction with genetic counseling.
Meanwhile, insurers, including UnitedHealth GroupUNH -0.11% WellPointWLP -0.45% and AetnaAET +0.24% have started covering the tests, which cost between $795 for Ariosa's product and $2,700 for Sequenom's, but only for women with risk factors, such as those over 35 years old.
Physicians and test makers are split over whether the test should be distributed more widely, with some test makers beginning to sell to the broader market. There is also a hope the tests could eventually be used to gather more definitive diagnoses.
"Noninvasive prenatal [testing] as a whole has the potential to someday replace invasive procedures," said Jonathan Sheena, chief technology officer at Natera, the latest company to enter the fray. "The field has taken a giant leap forward," he said, "but we believe it is important to understand they don't replace invasive tests yet."

What are your thoughts?

Be gentle.