from Indian Weekender, IWK Bureau:
The 36 Special Olympics New Zealand athletes and 17 volunteers taking part in the Special Olympics World Summer Games 2015 in Los Angeles, are set to depart for the competition in just a couple of weeks.
Amongst them is Special Olympics North Harbour athlete Pratima Patel, who is the first New Zealand athlete of Indian origin ever to compete at the Special Olympics World Summer Games.
The Special Olympics World Summer Games 2015, known as “LA2015”, will see 7000 athletes from 170 countries compete at the event being held from 25 July 2015 to 2 August 2015. The New Zealand delegation includes 34 athletes with intellectual disabilities, two ‘Unified Partners’ (athletes without an intellectual disability), and 17 coaches, managers and support staff. The athletes will compete in aquatics, athletics, basketball, bocce, equestrian, golf, powerlifting, and tenpin bowling.
by Cathy McMorris Rodgers from Forbes:
Seven years ago, just hours after giving birth to our son Cole, I learned how a single diagnosis can change your whole life. How two simple words – Down syndrome – are associated with lifelong complications and heart defects and Leukemia and even early Alzheimer’s. But in that moment, when Cole was taken away for surgery and we reeled from the lifetime of uncertainty that suddenly lay before us, I learned firsthand how scientific advancement saves lives.
While breakthroughs in medicine and technology have given hope to Cole and so many millions like him – whether they have Down syndrome or Autism or cancer – we still have a long way to go to remain the world leader in innovation. In fact, of the 7,000 known diseases, we only have treatments for 500 of them. It is one of the greatest and noblest causes of our time: to commit ourselves, as a country and a Congress, to saving lives.
That is why, as part of the House Energy and Commerce Committee, we have launched the 21st Century Cures initiative, whose mission is to expedite the discovery, development, and delivery of new and innovative treatments to patients everywhere. We need to leverage technological advances to rethink how we conduct research and break down outdated administrative and procedural hurdles. We are committed to reducing the time and complexity of clinical trials so Americans have the best, most effective treatments right here at home.
from Whoopsie Piggle: Real Community, Virtually
When Lyra was four months old, I met a woman at a meeting for new parents of children with Down syndrome. A few weeks later, she sent me an invitation to join a Facebook group titled “(’12/’13) Moms with Kids Rockin’ the Extra Chromosome.” I remember thinking the title was a bit cumbersome, but I don’t recall what I expected when I clicked the “join” button. Not much I suspect for, at first, I hardly looked at or commented on the page. I was busy with my family, my baby and her diagnoses of Down syndrome and bi-lateral cataracts and all the adjustments that go along with any new baby. Today, I have a list of all I did not know or anticipate:
I thought the group was local, but it is not. Though most members are Americans, the group has families from all over the world.
I had not anticipated the value of an immediate and large group of moms whose kids with Down syndrome were the same age as my child and, therefore, will go through the same stages of development at roughly the same times as my child because…
It did not occur to me at first that this would be a lifelong group, but once it did I was floored that something like it hadn’t been created before and reminded that, for all its distractions, the Internet’s impact can be profoundly positive.
I could not have imagined how close I would become with some of the other moms. Back in the old days, before Facebook, I never participated in chat rooms. Even today, I do not belong to many Facebook groups. Yet there are women I have only met through this group whom I regularly turn to for input. Recently, one of the moms I corresponded almost daily has largely dropped off due to a difficult pregnancy. I miss her as much as if I had a best friend living next door who moved to another state.
I did not know how much I could cherish the children who give us reason to have a Facebook group nor how invested I would feel in their developmental milestones. Videos of crawling, walking, talking, straw-sipping babies have me cheering in my seat at my computer as if I was watching the Chicago Cubs win the World Series.
I certainly did not expect my heart to be broken.
In the past week, three babies have died. Baby Fiona died after complications from her second heart surgery. Baby Ryder was fine when he went to bed, had a fever and rash in the morning and was gone by two in the afternoon. And Baby Annie. Baby Annie was not given a heart transplant, for reasons that remain unclear, and her family—mother, father, and two older sisters—have watched her progressively become weaker and bluer. She died early this morning.
by Stephanie Pratico from The Huffington Post:
Many parents have or will experience the joy of their high school senior receiving college acceptance letters. In my list of dreams for my children, that falls somewhere toward the bottom. When my son John, 20, and my daughter, Sara, 15, were born with Down syndrome, I knew the likelihood of receiving even one college acceptance letter may not be a reality. However, the day John received his letter of acceptance for Team New Jersey in the 2014 Special Olympics USA Games, I believe I experienced the equivalent.
Over the years, I have spent countless hours in doctors' appointments, IEP meetings and on the phone with various State agencies, discussing my children's diagnoses, limitations and challenges. Fortunately, after shedding many tears, I realized early on that although it is important to recognize the areas of development that need support, those are not what define the wonderful people my children are.
Although John was fortunate to reach some of his developmental milestones with minimal delays, Sara's road was much more difficult. John actually learned to walk at 16 months, and Sara was over three years old. In spite of their varying abilities, we were at home at Special Olympics.
Special Olympics is where we go for sports training and competition. My children need to be in a place where despite their disabilities they are among their peers, can have the same experience as any other child and are valued for their special abilities. It is so wonderful to have a place in the community where we can be a 'typical' family.
from the NDSS: Join NDSS and other national organizations today, June 12th for National Call-In Day toask your Senators and Representative to cosponsor the Keeping All Students Safe Act (S. 2036/H.R. 1893) which aims to end the practice of using restraint and seclusion as punishment or convenience. Restraints and seclusion have killed, injured, and traumatized students in schools across the country. The Keeping All Students Safe Act, championed by Senators Tom Harkin (D-IA) and Chris Murphy (D-CT) and Representatives George Miller (D-CA) and Gregg Harper (R-MS), promotes a shift toward preventing problematic behavior through the use of de-escalation techniques, conflict management, and evidence-based positive behavioral interventions and supports. NDSS strongly supports this legislation.
Please call your members of Congress tomorrow by clicking the TAKE ACTION button below, and ask your Senators and Represenative to cosponsor this important legislation!
For more information about the Keeping All Students Safe Act, please visit our NDSS Restraints and Seclusion in Schools webpage. Thank you for all you do! Ginny Sessions Manager, Grassroots and Development Programming National Down Syndrome Society
The Senate Labor-Health & Human Services (L-HHS) Subcommittee marked up their fiscal year (FY) 2015 appropriations bill this week and appropriated $12.718 million for the Transition and Postsecondary Programs for Students with Intellectual Disabilities (TPSID) program, a program that NDSS fully supports!
We still need your help! Please contact members of the House and Senate Appropriations Committee (using the "Take Action" link below) to ensure that the funding for the FY 2015 TPSID program is included in the Senate full-committee appropriations bill (scheduled for Thursday, June 12th) and in the House L-HHS appropriations bill.
NDSS feels strongly that students with Down syndrome and other disabilities should have access to postsecondary education, and the resulting employment and independent living opportunities.
Congress must support the TPSID program and NCC to ensure that thousands of students with intellectual disabilities have meaningful transition options into postsecondary education that leads to academic, career and independent living training, and employment.
...The New England Journal of Medicine published a study showing that a new, DNA-sequencing based blood test provides a dramatic improvement in accuracy at screening for Down syndrome and a second, deadly disorder. That could open up a $6 billion market to the biotechnology companies that are already marketing these tests.
Each year in the U.S. there are 6.6 million pregnancies and 4 million births, according the Centers for Disease Control & Prevention. The list prices of the tests, which are sold by four different companies, range from $700 to $2500. Assuming that pricing settles in the middle of that range and that there are 5 million women who choose to have the test, that would be a $8 billion market.
But give that number a haircut. “I have to imagine pricing could come down more aggressively if guidelines expanded,” says Douglas Schenkel, an analyst at Cowen & Co. Not every pregnant woman will ever get the test. But he still argues that the market for these tests could increase six-fold from its current size of about $1 billion. Isaac Ro, an analyst at Goldman Sachs, offered similar estimates in a note to clients.
Such a market expansion could be important to all of the companies that make the tests, including Ariosa, which makes the lowest price test, Natera, and SequenomSQNM0%. But the biggest winner could be Illumina, the San Diego maker of DNA sequencing gear that funded the trial and that purchased Verinata, a fourth maker of the new tests, for $350 million last year.
Illumina says it believes Verinata has strong intellectual property position in this booming new market. Beyond that, though, all four manufacturers run their tests on Illumina’s DNA sequencing machines, meaning the company wins no matter what. Francis DeSouza, Illumina’s president, said in an interview that, if anything, he expects to spend less on marketing Verinata and that the company is taking care for there to be an even playing field for the tests. It prices its test in the mid-range of the market, at a $1,500 list price.
Illumina also says that it doesn’t expect a price war, because the market expansion will be dependent on medical societies writing guidelines that endorse the new test. Right now the American College of Obstetricians and Gynecologists recommends the DNA-based tests only for mothers at high risk, including those over 35.
But the NEJM paper makes a strong argument for expanding that recommendation. Right now it’s recommended that all pregnant women be offered a pair of tests – a blood test and an ultrasound to look for fluid at the base of the fetus’ neck – to screen for three disorders caused when the baby has an extra copy of one of the 46 chromosome bundles that contain the human genetic code. There are three such disorders that occur commonly: trisomy 21, or Down syndrome, is the most common, causing diminished intellectual ability and slower growth; trisomies 18 and 13 are less common, but are often fatal for the infant.
Current screening tests yield a large number of false positives, so they must be followed up with an invasive test that samples cells from the fetus. One such test, chorionic villus sampling, has a miscarriage rate of 1 in 200; the other, amniocentesis, causes miscarriages 1 out of every 600 times.
These invasive tests would still be needed to confirm positives from the DNA tests, but they’d be used in women whose fetuses don’t have Down or other trisomies far less often. The NEJM study gave the old screening tests and the new DNA-based test to 1,914 pregnant women and followed them until the baby was born. For Down Syndrome, the new test gave just 6 false positives compared to 69 for the old screening tests. For trisomy 13, there were 3 false positives with DNA sequencing compared to 11 with the traditional number. For trisomy 13, the numbers were 1 and 6.
Assuming 5 million women are tested each year, that would mean 245,000 would be spared an invasive test, and 358 miscarriages might be prevented. Even at a higher cost, that could be hard for insurance companies to say no to. Some experts, including Illumina, expect that more studies will be needed to change the guidelines.
How does the new test work? Basically, by counting. Because some of the fetus’ cells circulate in the mother’s blood, researchers can sequence DNA and see if genes from any chromosomes appear too often. For a more complete description, check out the video embedded from Steve Quake at Stanford, who co-invented Verinata’s technology.
Not everyone is sure that the new technology, known as non-invasive prenatal testing, is an unmixed blessing. Hank Greely, a professor of law at Stanford Law School who has written extensively on genetic issues, says that the new test is “more reason to think NIPT will largely take over Down screening.” But he warns that these same methods might lead to tests for more complicated tests. “If, say, 70% of American pregnancies received broad genetic screening, the next generation would look different – some will say for better, some for worse.”
The law must be changed or all children with Down Syndrome will not receive a medical card, it was claimed on Wednesday.
The head of Down Syndrome Ireland said the practice of awarding cards on the basis of a child’s financial situation – not the state of their health – must stop.
The Irish Mirror is campaigning to have the 1970 Act changed to allow all children with the condition to receive a medical card.
At present, even youngsters who are severely ill cannot get a card if their parents are earning as little as €5 over the cut-off limit.
Down Syndrome Ireland boss Pat Clarke said HSE officials, who have asked if children with the condition have got better, are totally out of touch.
He insisted: “The law needs to be changed and we’ve been asking for this for some time.
“Many, many years ago there were the county medical officer in each region who looked at each individual case and would know these individual people and be able to assess the medical condition all these children with Down Syndrome had.
by Sasha Borissenko from The Nelson Mail:
A woman with Down syndrome who says her carer grabbed her head and pushed her face close to an element is not a vulnerable adult, a defence lawyer says.
The carer, Deborah Michelle Waugh, is on trial in the Nelson District Court.
She denies a charge of ill-treating a vulnerable adult.
Defence lawyer Brett Daniell-Smith yesterday argued that Waugh did not mistreat the 25-year-old complainant.
He told the court that although Waugh was a gruff woman, she had a kind and gentle heart.
The Crown alleges that Waugh, 60, ruled the house where the woman lived through fear, creating an unhealthy and unpleasant atmosphere.
Staff working under her raised concerns but a complaint file went missing.
Daniell-Smith and Crown prosecutor Jackson Webber gave their closing statements yesterday.
Waugh worked for Intellectual Disabilities Empowerment in Action (Idea) as a support worker and facilitator at a Collingwood St home for people with intellectual disabilities for six years.
The alleged events in question occurred between October 31 and December 25, 2012, but were only brought to light in April 2013.
The Crown alleges that any complaints were covered up by Waugh's manager and friend.
The alleged incidents only came to light after the manager and friend left the organisation.
In his closing address, Daniell-Smith said that in his view, the complainant did not fit the definition of "vulnerable adult".
by Victor R. Martinez from The El Paso Times:
Gaby Escobar knows first hand how important the It-Takes-a-Village concept is.
In this case, "the village" consists of speech/language, occupational and physical therapists from Early Childhood Intervention — or ECI.
Escobar's two-year-old daughter Analuisa, who was born with Down syndrome, has been a part of the program since she was a few months old.
"I could not imagine raising her without this help," she said. "I'm very proud of the work all the team — the therapist, the family and Analuisa — have put in. I am very grateful for all the help and love that they have shown us. They have become our family."
ECI is a statewide program for families with children, birth to 3-years-old, with disabilities and developmental delays.
ECI supports families to help their children reach their potential through developmental services. Services are provided by a variety of local agencies and organizations across Texas.
"She has had a speech and language pathologist since she was born," Escobar said. "She can say about 17 words and 27 more in sign language. Her first words where 'papa.' She's in love with her papa."
21 March 2014 marks the 9th anniversary of World Down Syndrome Day and each year the voice of people with Down syndrome, and those who live and work with them, grows louder. But there is still so much more we can do.
Down Syndrome International encourages our friends all over the world to choose your own activities and events to help raise awareness of what Down syndrome is, what it means to have Down syndrome, and how people with Down syndrome play a vital role in our lives and communities. We will share your WDSD World Events on our dedicated WDSD website in a single global meeting place.
For WDSD 2014, DSi is focusing on:
“Health and Wellbeing - Access and Equality for All”
All people with Down syndrome have the right to access healthcare when required on an equal basis with others without discrimination and with proper assessment of the specific health needs of the individual. We will be highlighting that:
Having Down syndrome does not make a person unhealthy.
Down syndrome is a genetic condition, not an illness.
People with Down syndrome may have health issues throughout their lives, just like everyone else and they should have access to healthcare on an equal basis with others.
There are specific known health issues which may affect people with Down syndrome, for which accurate, evidence based information is available.
Health professionals should be aware of these specific issues when treating a person with Down syndrome.
Health professionals should not discriminate against people with Down syndrome by:
refusing to treat them;
blaming health issues on Down syndrome in general, or;
considering only specific known health issues which may affect people with Down syndrome.
Our WDSD Global Video Event and WDSD Conference will both explore this important area of focus.
If you would like to join this campaign, then we very much welcome its adoption into your plans for WDSD 2014.
Once again in 2014, we are inviting everyone across the world to wear LOTS OF SOCKS on 21 March to get people talking about WDSD.
You can also participate in our WDSD activities by nominating someone for the WDSD Awards, you can join us on our various WDSD Social Media channels, and you can promote our WDSD Patrons Messages.
Whatever you plan to do, lets create a single global voice for advocating for the rights, inclusion and well being of people with Down syndrome on 21 March.
A Belle Chasse woman has been booked with killing her 17-month-old son, injecting the hand sanitizer Germ-X into the body of a toddler who was born with Down syndrome and a heart defect. Lucas Ruiz died Jan. 24 from alcohol poisoning, in what his mother, Erika Wigstrom, 20, described to detectives as a mercy killing.
The official cause of death is "acute ethanol intoxication," according to the Plaquemines Parish Sheriff's Office. The active ingredient in Germ-X is ethyl alcohol, the product's website says. Deputies arrested Wigstrom on Tuesday after she confessed to killing the child because she didn't want him to suffer anymore, authorities said. The family had written in his obituary that Lucas died "while cradled in the arms of his beloved mother."
She also confessed that she previously gave the child perfume, a crime with which her former boyfriend and Lucas' father, Cesar Ruiz, already is charged, according to the Sheriff's Office.
"From what I gathered from the detectives, they basically said she had no remorse," said Cmdr. Eric Becnel, a Sheriff's Office spokesman.
PHILADELPHIA - February 18, 2014 (WPVI) -- Bensalem basketball star Kevin Grow made his debut as part of the Philadelphia 76ers, after signing a two-day contract.
On Tuesday night, Grow was introduced on center court with his new teammates.
Before the game against the Cleveland Cavaliers, the teen was outfitted with his own custom jersey and a stall in the team's locker-room.
It was another memorable night for an inspirational young man.
The Sixers announced Monday they were signing the senior to a ceremonial two-day contract.
Signing the two-day contract capped an amazing week-long run in the national spotlight for the Bensalem High School senior.
Last week, Action News' Jeff Skversky reported on the 18-year-old whose story garnered attention from around the Delaware Valley.
"We said two minutes and you take advantage of your two minutes of fame. His life will be changed forever," said Earl Grow, father.
The teen, who has Down Syndrome, was the high school team's manager for the last four years.
Then, his coach let him suit up for the final two games of the season.
Human sexuality encompasses an individual's self-esteem, interpersonal relationships and social experiences relating to dating, marriage and the physical aspects of sex.
From the NY Times by Susannah Meadows:
Rachel Adams is an Upper West Side intellectual who gave birth to a boy with Down syndrome six years ago. In this era of advanced prenatal screening, the first question more than one friend asked her was: How could this have happened?
On the surface it seemed like an expression of concern. But what it meant was: How could this child have happened?
To Ms. Adams, the idea that her son’s very existence requires an explanation — that he is here because of some failure of medical science — is appalling. Her book is less a memoir about mothering a child with Down syndrome than it is her attempt to set people straight. The syndrome is a disability, as she makes clear, not an illness and certainly not a tragedy.
“Raising Henry” is an important, hopeful book for that reason alone, and it’s easy to be on Ms. Adams’s team. Sometimes, though, you wish she were a more effective captain.
A professor of English and American studies at Columbia, she seems most at home making an argument, drawing on research (especially her own), seeing connections. She observes that in the brainy circles in which she moves, everyone talks about diversity — but how much are differences really valued? “I wonder,” she writes, “whether my friends and colleagues would recognize the value of a child who was slower, less capable and more dependent.”
And while she makes many good points, she leaves her most compelling evidence, her case-closer, largely out of the picture: Henry himself. She writes that her son is separate from his diagnosis, but barely offers a sense of who he is.
One quick glimpse comes midway through the book, when she writes that no genetic test would have told her about the essence of Henry: “I couldn’t have known about his great sense of humor or the sound of his infectious laugh. Or the smell of his hair. The delight he gets from singing along with music or pouring bathwater from one cup to another. His weight on my lap when we’re reading a book together.”
That’s the stuff. Too bad there is so little of it. Comparisons with the vivid characters who populate the 2012 book “Far From the Tree,” Andrew Solomon’s magnificent study of disability and identity differences, are hard to avoid. People like the autistic child who tells his mother “I love you” shortly before she dies, or the woman who starts her own school to meet her deaf son’s needs, make Mr. Solomon’s weighty volume, implausibly, a page-turner.
When Ms. Adams was pregnant with Henry, her second child, she and her husband, Jon, decided to skip an amniocentesis, which would have identified the extra chromosome that causes Down syndrome. She’d had the test during her first pregnancy and was repelled and terrified by the long needle stuck into her abdomen; anyway, an early screening in the second pregnancy suggested that the odds for Down syndrome were just one in 2,000. She doesn’t say whether she would have had an abortion had she known, or what her husband would have wanted to do.
A dispiriting subplot of the memoir is the author’s growing disillusionment with doctors. She comes to trust her own instinct above their advice — and no wonder, given their abysmal bedside manner. For instance, the resident who sews her up after the delivery sprints out of the room faster than you can say “perineum”; she realizes later that he must have known that Henry had Down syndrome but lacked the courage to break the news.
When Henry was 3 days old, a pediatric geneticist used him as a teaching prop for a group of residents: Pointing out a characteristic of Down syndrome, “he reached into the incubator to demonstrate the floppiness of Henry’s limbs by lifting them and letting them drop.” Neither he nor the residents uttered a word to Ms. Adams as they continued on their rounds.
Her obstetrician’s performance was hardly better. Visiting Ms. Adams after the birth, she burst into tears — which, although odd, at least seemed sympathetic. But soon the doctor’s attention shifted to herself. “I went back through all your records,” she said. “I wanted to make sure I didn’t miss anything so I showed them to my colleagues, and everyone agrees there was nothing.”
At that moment, Ms. Adams says, she hated her obstetrician. Later she reconsidered, reasoning that if the doctor had pushed her to have an amnio, she might never have had Henry. She even wrote the doctor a thank-you note.
But the feeling didn’t last. After talking to another mother of a child with Down syndrome who happened to be a patient of the same obstetrician, Ms. Adams realized that those tears were not out of worry for the challenges the new mother faced, but rather out of regret that Henry had come into existence at all.
Ms. Adams never saw that doctor again, but with this book, she gives her a well-deserved piece of her mind.
Susannah Meadows, a regular contributor to The New York Times, is working on a book about people who exhausted traditional medical options and found solutions elsewhere.
