Sunday, September 30, 2012

Down syndrome may hold key to new Alzheimer's treatments

from Reuters and The Chicago Tribune:
In a new lead on Alzheimer's research, Johnson & Johnson is bankrolling a three-year pilot study of people with Down syndrome to identify the early changes that herald dementia, which afflicts up to 75 percent of adults with the condition.

The aim is to generate support for a much bigger, public-private partnership funded by drugmakers, advocates and government agencies that will study at least 1,000 people with Down syndrome, tracking them from an early age and eventually testing treatments to keep dementia from developing.

"The study we're proposing would provide insight into treating Alzheimer's, but it might help individuals with Down syndrome as well," said Dr. Husseini Manji, J&J's global head of neuroscience drug development.

Experts in Down syndrome and Alzheimer's who gathered in Chicago for a workshop on the idea at the Alzheimer's Association offices this month say it may offer the best scientific model yet for testing drugs to prevent the degenerative brain disease.

The industry has been repeatedly stung by the failure of experimental Alzheimer's treatments, including recent trials of the J&J and Pfizer Inc therapy bapineuzumab.
As a result, companies and researchers are looking for ways to test Alzheimer's drugs earlier, before people's brains become too damaged to benefit.
Studies are already planned to enroll people who carry genetic mutations that ensure they will develop Alzheimer's at an early age. One trial backed by the U.S. Department of Health & Human Services will test a drug from Roche Holding AG's Genentech unit called crenezumab in an extended family from Colombia who carry a mutation that causes them to develop Alzheimer's in their 30s.

Only a few hundred families in the world carry these genes, and there is some worry that drugs tested in people with genetic mutations that cause early-onset Alzheimer's may work differently in people who develop the more common late-onset Alzheimer's, which develops after age 65.


The dementia that develops in people with Down syndrome may bear a stronger resemblance to the disease in the broader population because it differs from other forms of early-onset Alzheimer's, researchers say.

People with Down syndrome inherit a third copy of chromosome 21, giving them an extra helping of a gene that makes amyloid precursor protein, or APP, which is linked with the development of plaques in the brains of Alzheimer's patients.

Most early-onset Alzheimer's is caused by mutations in the APP gene or in one of two genes known as presenilin 1 or presenilin 2. People with Down syndrome appear to develop dementia because of their extra copy of an otherwise normal APP gene.

"There is a possibility that the Down syndrome population mimics (late-onset) Alzheimer's disease a little more closely," said Manji, co-author of a commentary this month in Nature Reviews Drug Discovery that laid out plans for the study.
Dementia starts much earlier in people with Down syndrome, who develop brain plaques and tangles by age 30 and signs of dementia by age 40.
The number of potential Down syndrome patients exceeds those with the genetic mutation.
There are some 400,000 people in the United States and 6 million people worldwide with Down syndrome.
"These diseases almost certainly have common features," said Dr. William Mobley of the
Down Syndrome Center for Research and Treatment at the University of California, San Diego.

While all of the similarities are not yet clear, studies in mice with Down syndrome show that just eliminating just the extra copy of the gene for APP can keep brain cells from dying, he said.

Mobley's center will run the 12-patient pilot study, which aims to lay the foundation for the larger project, dubbed the Down Syndrome Biomarker Initiative.

The larger trial would be patterned after two successful studies: the Alzheimer's Disease Neuroimaging Initiative, a public-private partnership that helped identify biomarkers linked with Alzheimer's, and a breast cancer trial known as I-SPY that pioneered adaptive trial design, in which researchers use biomarkers to match the right drug to the right patient.

What is not yet known is how many parents of people with Down syndrome would be willing to sign up their adult children for such trials. Michelle Whitten of the Global Down Syndrome Foundation thinks many will be.

Saturday, September 29, 2012

Sharing their challenges: Moms of Down syndrome boys armed with information

by Dorothy McKnight from Daily Press:
Look around you; there is beauty everywhere. The beauty that is seen daily might be outer beauty or someone's inner beauty.
Families that include a member who happens to have Down syndrome see the beauty in their children everyday.
But there was once a time in American society when parents who gave birth to a baby with Down syndrome were advised to place the infant in an institution and move on with their lives. Even when they decided to bring their child home, parents were not given much encouragement that their son or daughter would have a good "quality" life.
With advancements in genetics and prenatal care, many women who learn during their pregnancy that they will be having a baby with Down syndrome are able to prepare and educate themselves about their child's diagnosis.
Both Cindy Vader and Lourie Schuenke of Escanaba faced those same decisions themselves when they gave birth to their sons, both born with Down syndrome. In each case, their little boys have brought such joy into their own lives and the lives of their families, the women are now motivated to encourage and support other women who are facing the same choices they faced.
Cindy and Lourie are members of the Upper Peninsula Down Syndrome Association based in Marquette yet serving the entire Upper Peninsula, and are working hard locally to provide information to families of children with Down syndrome.
"The Upper Peninsula Down Syndrome Association started as a group of parents getting together to reach out to each other for support and to reach out into our community for awareness," said Lourie.
Jacob, the only child of Cindy and her husband, Len, was born with Down syndrome 15 months ago. The mother of two sons, Lourie's younger child, Konner, 5 1/2, also has Down syndrome.
Cindy learned of her baby's diagnosis during her pregnancy. While undergoing a routine prenatal exam, she was given an ultrasound and saw her unborn child for the first time.
"During the ultrasound there were no evident markers for Down syndrome, he looked perfect," Cindy said with a tender smile. "I even saw him sucking his thumb."
But Jacob's condition was diagnosed during a subsequent amniocentesis that her doctor recommended due to her being high risk because she was already in her late 30's when she became pregnant.
"For me, knowledge is power," said Cindy. "The test showed I was going to have a little boy with Down syndrome. Due to my age I knew there was a chance but the doctor called me at home to tell me for sure. My husband wasn't home so the doctor's words felt like a punch to the stomach. I didn't have any information about Down syndrome and didn't even know anyone with Down syndrome."
After discussing the call with her husband, Cindy said she was upset when subsequent phone calls yielded no offer of information or assistance.
"When I think about it, It still feels like it was just yesterday," she said.
Cindy then decided to take a few days off work to education herself about her unborn baby's diagnosis. After connecting with another soon-to-be-mother who was also expecting a child with Down syndrome, she learned about the support group.
Lourie's discovery of her baby's diagnosis didn't become evident until after his birth.
An ultrasound was inconclusive and suggested that the baby might be developing a tumor on the base of his brain and he might be born with cerebral palsy. Subsequent ultrasounds showed no tumor and doctors said that her child was healthy. Down syndrome was never mentioned.
"His diagnosis of Down syndrome didn't even occur until after he was born, and he had so many medical issues they took priority over everything," Lourie said.
But Lourie soon came to the realization that the road on which she was about to embark with her little son was going to be a rocky one due to those medical issues. A day after his birth, Konner was taken from St. Francis Hospital where he was born, to Marquette General where he spent the next 26 days in the Neonatal Intensive Care Unit (NICU) before he was airlifted to Children's Hospital in Milwaukee. Konner was born with pneumonia in both lungs and it was discovered that he a large hole in the center of his heart which needed a full AV canal repair. He also was born with duodenal atresia, and malrotation of the colon. Her son also had other medical issues and later had a G-tube placed, which is a tube to the stomach for feeding. He underwent three surgical procedures the first day in Milwaukee.
"I was told he was not going to survive," Lourie said.
Almost three months after his birth, Konner was allowed go home from the hospital for the first time.
But Konner's ordeal wasn't over. He still needed surgery to correct his heart condition.
"He weighed 6 pounds, 13 ounces when he was born but by the time a week had passed, he was just about 4 pounds," Lourie said. "He needed to have the heart surgery and he had to be at a certain weight in order to undergo open heart surgery and survive."
More than 5 years later and with a total of 15 surgeries under his belt, Konner is now a student at the ISD Learning Center.
"He's doing very well there," Lourie said. Although due to his medical issues, most milestones were delayed. Konner didn't walk until he was almost 3. He continues to undergo physical and occupational therapy as well as speech therapy.
"We knew that Konner's jaw and surrounding muscles were weak so he began learning to use sign language when he was barely two and is now trying to learn to verbalize along with sign," Lourie said. "He's also had four surgeries on his ears and that might have contributed to why he was unable to talk. He wasn't able to hear in the first place."
Lourie smiles when she speaks of the special relationship between Konner and his older brother, Brendon16-years-old. "They're great together, " she said.
So what hopes for the future do both ladies have for their sons?
"I have as much hope for Konner as I hope for my 16-year-old son," said Lourie. "None of us have any guarantees for our children. There are many typical children who develop serious problems as they grow up and you don't give up on them. So why shouldn't I expect the best for Konner?"
Cindy expressed even more encouraging news for families with children who have Down syndrome.
"With more research and more therapies that are becoming available, I've learned of more children with Down syndrome graduating from college and even getting master's degrees," she said.

Friday, September 28, 2012

Grandmother walks to raise money for Down Syndrome research

Boca Raton grandmother walking 1,000 miles, the distance between her house and her granddaughter in Baltimore

She cried when she first heard about it, but the extra chromosome in her fourth grandchild's DNA put Kathy Coughlin on a fast track to a place that she hadn't fathomed.
She stayed at her newborn granddaughter's bedside as she endured multiple open-heart surgeries, a feeding tube insertion and other surgeries that are often part of Down Syndrome diagnosis.
Now, looking to raise money for the Down Syndrome cause, Coughlin is doing the most symbolic thing she can think of: walking 1,000 miles, the distance separating her from her son's family in Baltimore. Every day, for four hours, Coughlin walks around her neighborhood, measuring her miles as if she's heading toward their home.
Beside raising money, she's also celebrating the way her family has rallied around 4-year-old Amara with every step.
"She's taught me so much and she can barely talk," said Coughlin, 62, a human resources consultant. "She's been through so much, but she has a spirit and a tenacity ... she can be as happy as a typical person, in a different way."
A little more than 80 days ago, Coughlin started her journey with the goal of raising $2,000 to be split between the Gold Coast Down Syndrome Organization in Palm Beach County and the National Down Syndrome Society. She's now about 10 days away.
She said she's hoping the money goes toward supporting the medical needs of these children who often have low muscle tone, heart defects, digestive issues and delayed learning and research into the best ways to help them achieve their potential.
Each year, about 6,000 U.S. babies are born with Down Syndrome, or about one of every 691 babies born in the United States, every year, according to the Centers for Disease Control and Prevention. That number might drop as new, noninvasive testing allows parents-to-be to find out even sooner than before if the fetus in utero has the syndrome.
Coughlin said her son, then 32, and her daughter-in-law had one week to decide if they were going to carry their daughter to term. The doctors were telling the parents-to-be that tests were showing that she also had a hole in her heart.
She said she had no answer when her son asked her what she would do.
"They were going to take the weekend to think about it," she recalled. "I told him 'Whatever you decide, I'll support you.'"
He called Monday morning.
"He said, 'You can't pick and choose what God sends you,'" she said. "The two of us cried together."
Coughlin shut her business down temporarily for different stretches so she could be with Amara along with each medical hurdle. Born at 6 pounds, Amara, at first, lost weight as digestive problems made swallowing an ounce of milk an hourlong ordeal.
Around her third birthday, the family started to understand the full strength of the joy behind those slightly slanted brown eyes. Now, Amara loves books, music and singing "Happy Birthday" whenever the mood strikes — which is often, her grandmother says.
Thoughts of how she's going to support herself as an independent adult concern Coughlin. But she's looking forward to when they all get together for the Buddy Walk of Boca Raton's Gold Coast Down Syndrome Organization in October — the day before Amara's fifth birthday.
"I've been training to do this all of my life," her grandmother says, striding along her neighborhood's path.

Thursday, September 27, 2012

Eggs and Lean Meats Prevent Emotional, Metabolic Disorders and Down Syndrome in Fetuses?

by S.C.Stringfellow from Counsel & Heal:
In a study that adds more confusion as to whether or not red meat and eggs are good for you, a study in the FASEB Journal claims that nutrients found in the above food stuffs may have genetic benefits for a fetus.
Nutrition scientists and obstetricians at Cornell University and the University of Rochester Medical Center found that higher-than-normal amounts of choline, found in eggs and meat, in the diet during pregnancy changed modifications in the DNA of a fetus that tells certain genes gained from the mother to switch on or off.
Namely, the genetic markers responsible for all our hormonal activity such as growth, our response to stress and metabolism speed, among other things.
The results were derived from an experiment which involved a study of 26 pregnant women in their third trimester who were assigned to take 480 mg of choline per day, an amount slightly above the standard recommendation of 450 mg per day, or about double that amount, 930 mg per day.
The findings indicated that fetus' of mothers were less likely to develop stress or metabolic disorders such as anxiety, depression, obesity, hypertension  and Down Syndrome, than those who took the 480 mg and even more protected than those who have less choline intake.
While more research is needed, Caudill says that her message to pregnant women would be to consume a diet that includes choline rich foods such as eggs, lean meat, beans and calciferous vegetables like broccoli.
"One day we might prescribe choline in the same way we prescribe folate [acids such as those found in orange juice] to all pregnant women," notes Pressman, the James R. Woods Professor in the Department of Obstetrics and Gynecology. "It is cheap and has virtually no side effects at the doses provided in this study. In the future, we could use choline to do even more good than we are doing right now."


Wednesday, September 26, 2012

Reece's Rainbow is in the running to win a $50,000 grant


If you are new to Reece's Rainbow, we are a 501c3 charity with advocates and fundraises for the international adoption of children with Down syndrome and other special needs exclusively.   In only 6 years, we have found adoptive families for more than 850+ children around the world, and disbursed more than $4 million in adoption grant funding to save them!

Reece's Rainbow is in the running to win a $50,000 grant from Cultivate Wines.  IF we should win, (10) waiting orphans with Down syndrome in (10) different countries will each recieve a $5000 grant towards the cost of their adoption.  (list of children will be revealed at the end!)  Money is the ONLY thing standing in the way for these children to be FOUND and to come home to loving "forever families".

The voting period is between September 19-October 31.  We need EACH OF YOU to vote ONCE A DAY!   Every vote helps, and we can't make up for votes at the last minute like some other contests.

Restrictions:  this contest is open only to voters over the age of 21, and you must have a Facebook account to vote.  (contest rules) 

PLEASE visit this link every day, vote, and share on your Facebook, blog, yahoo groups, Twitter, with your friends and family.   This is an important opportunity for the children and the ministry as a whole for greater visibility as we go into our Angel Tree! (starting November 1)  

Any questions can be directed to me personally at 

Thank you for your support!

Andrea Roberts, Founder & Executive Director
Reece's Rainbow Down Syndrome Adoption Ministry
Yahoo Messenger:  luvbama93
Skype:  reecesrainbow
Facebook:  Andrea Faris Roberts
Twitter:  @momtoreece and @reecesrainbow

Tuesday, September 25, 2012

Lauren Potter and Jamie Brewer at the Emmys

How amazing is Potter as Becky on Glee? She is just as delightful and adorable in person and was so thrilled to be among her peers at the EW shindig. When I asked who she is closest to on set, Lauren told me, "Jane Lynch because we're like this (crosses her fingers to show how tight they are). But I have a crush on Mark Salling, who plays Puck! He's a cutie. I don't think he knows I [feel that way]! There should be a little Puck and Becky romance!" Mark, are you listening?
Read More
from The American Horror Story cast enjoyed each other’s company at the Fox Broadcasting Company, Twentieth Century Fox Television And FX Emmy after party. Jessica Lange, Zachary Quinto, Lily Rabe, Connie Britton and Jamie Brewer were all spotted hanging out with one another.

2 students with Down syndrome to be featured at art exhibition

by David Berman from the Chillicothe Gazzette:
Alan Blue and Kaitlyn Brown are like any other teenage couple -- they bicker, they flirt and they make sure everyone knows they're dating. Well, Alan does.
What sets the Unioto students apart from other teenage couples, if only slightly, is the fact they both have Down syndrome.
It's not anything you'll hear them talk about -- Kaitlyn would rather discuss how much she loves to swim, dance and play soccer, and Alan would prefer to focus on his role as an assistant coach for the Sherman football team -- but it's the reason they're featured in a photo exhibition set to open Thursday at the Dublin Arts Council.
The arts council, working in conjunction with the Down Syndrome Association of Central Ohio, paired four photographers with 13 members of the Down syndrome community for "Shifting Perspectives: In the Community."
The exhibition is described by the Dublin Arts Council as "a celebration of acceptance, capturing the joy and wonder of what it is like to be human and living with Down syndrome." It's being curated by Richard Bailey, a British photographer who helped create the first "Shifting Perspectives" exhibition in the U.K. in 2005.
Bailey is traveling to Dublin Arts Council for the exhibition, pairing some of his recent images with those from Ohio.
Barb Schwartz, a freelance photographer from Columbus, photographed the couple this summer at Unioto High School and the Ross County Fair.
"I loved meeting Kaitlyn and Alan because they truly exhibit the qualities in people living with Down syndrome that I was hoping to find," Schwartz said. "Their obvious devotion to each other was charming and romantic, and they were fun, patient, and kind through two very long photo shoots. I wish I had more time to spend with them."
Asked about the experience, Blue said, "We love it. We want to see (the photos)."
"I do, too," Brown said.
Brown's mother, Tonya, said the couple was selected to be photographed primarily because they're a couple, "and the fact they're both so involved and the community has been so receptive to them." She said she hopes the photo exhibition will help break the stereotype that people with Down syndrome are not capable.
"I think 'Shifting Perspectives' is a great name for it because they have relationships, they're involved in activities and they're part of the community," she said.
Blue, 18, and Brown, 16, have been dating since he was in eighth grade and she was in seventh grade. Brown simply said they met in speech class, but to hear Blue tell it, the moment was incredibly romantic.
"I looked her in her eyes and asked, 'Will you be my girlfriend?' and she said, 'Yes.'"
Just like any other couple, Blue and Brown enjoy going on dates.
"We like to watch movies, go out to eat and talk," Brown said.
Today, the couple is taking part in the Down Syndrome Association of Central Ohio's Columbus Buddy Walk at Crew Stadium, where Blue said they'll be holding hands and drinking "10 gallons of Mountain Dew."

Monday, September 24, 2012

Thousands walk for kids with Down Syndrome

from ABC 15 by Steve Kuzj:
Ask any parent, and they'll tell you raising a child isn't easy, but it can be especially tough on parents who have a child with Down Syndrome.
Caring for families and children with Down Syndrome is why thousands of people came out to Tempe Diablo stadium in Tempe on Saturday. Everyone went on a walk to raise money for the non-profit group Sharing Down Syndrome Arizona.
The event was massive, with dozens of fun activities for kids and participant.
None of it would have been possible without the tremendous help of organizer Gina Johnson. She started Down Syndrome Arizona more than 20 years ago.
Johnson knows what it’s like to have a child with Down Syndrome; her son has the condition. Every time a baby in Arizona is born with Down Syndrome you're sure to see Johnson there.
She delivers parent packages filled with DVDs, CDs, and books about the condition. Johnson also throws in a little something sweet to the pot.
"It's to educate, empower and give hope, but I give them chocolate and say, 'Whenever you’re sad, eat this, or call me and I’ll send more,'” Johnson sad.
For many parents, Saturday was their first walk. It was chance to share stories, and give each other hope, but most of all it was a time to celebrate the lives of their beautiful children.
“It's just about them and showing them how much we love them. How much we believe in them and find hope in them,” one random mother said.

Read more:

Friday, September 21, 2012

Role model: Down's syndrome boy, 4, to star in Marks & Spencer Christmas magazine

by Richard Smith from Mirror:Proud mum posted message on shop's Facebook saying Seb "charms the pants off everyone he meets and his little face is full of magic and mischief"Little Seb White is a good advert for positive attitudes.
The four-year-old’s mum had noticed how rarely Down’s syndrome kids featured in fashion shoots.
So she wrote to Marks & Spencer offering him as a model and to her delight the company said yes.
Seb will star in the M&S Christmas magazine. Proud mum Caroline, 39, who contacted the firm on Facebook, said yesterday: “He shows being ‘different’ isn’t any less wonderful – or even different.”
Mum-of-two Caroline added: “When Seb was born I vividly remember seeing lots of ads with hundreds of beautifully perfect kids in them and it just added to my sense of isolation.
“Then in July when we were shopping for Seb’s school uniform it occurred to me again that all the ‘different’ children out there are just not represented.”
Caroline, of Bath, Somerset, posted a message on M&S’s Facebook page saying: “Seb has striking, unusual features, charms the pants off everyone he meets and his little face is full of magic and mischief. So here’s the thing. He also happens to have Down’s syndrome. When he was born I was shocked to my core.
"I knew nothing about the condition and what should have been the happiest day of my life turned out to be the worst.
“I could never have imagined how excited and proud I would feel about him starting mainstream school in a couple of weeks. I wouldn’t swap him for the world.”
Product manager Caroline and husband Simon, 36, manager at a toiletries company, received a message asking them to call the store giant.
Seb – who started school last week – was invited to a photoshoot in London.
An M&S spokesman said: “We always look for kids who have fun in front of the camera and Sebastian was a pleasure to work with. We are really looking forward to seeing Sebastian in our Christmas magazine.”

Thursday, September 20, 2012

Teen with Down syndrome crowned homecoming queen

By Dana Macario from Today Moms:What do you know, another cheerleader has been crowned homecoming queen. Except 19-year-old Allyssa Brubeck isn’t just your typical popular teen, she also has Down syndrome. While her coronation is reason enough to celebrate, what may be the most touching of all is her classmates’ reactions to all the fuss surrounding their new royalty. They just don’t understand what the big deal is. Who cares that she has Down syndrome? She’s just Allyssa, a happy, friendly cheerleader. As The Kansas City Star reports, the student newspaper journalists didn’t even think to mention her disability when writing the story of the Homecoming election results. Their adult supervisor had to convince them that it was worth noting. During her four years at Park Hill South High School in Kansas City, Mo., Allyssa has become an active member of the student body and a teen who seemingly has a hug and a smile for everyone. When the school district posted the story on its Facebook page, the kids couldn’t believe the amount of attention the story got.“Everyone in the stands was crying,” 18-year-old classmate Leah Smith told The Star. “Everyone loves her.”
“She deserved to be homecoming queen,” said Sam Boling, 17, who was a runner-up for queen.
While the teens at Park Hill South High School are taking this all in stride, adults are much more impressed with this year’s queen – and what it says about her fellow students. We can all hope that this is a sign that kids with disabilities are one step closer to being accepted as just another kid.
“They’re growing up together,” Amy Allison, executive director of the Down Syndrome Guild of Greater Kansas City, told The Kansas City Star. Disabilities among classmates “are negligible to kids. They see the challenges they face, but they see they are happy and they want to help.”
Allyssa’s mother, Cindy Small, was touched by the support for her daughter, whom she describes as fearless. She told the Kansas City Star that Allyssa had always kept up with her younger sister, 17-year-old Annabelle; whether it was biking, golf or swimming. When Alyssa decided she wanted to be a cheerleader, she went for it. And got it.
As for Allyssa, like any teen girl, she’s just thrilled to be her school’s Homecoming Queen. “I’m a winner,” Allyssa told The Star. “I feel awesome.”
Dana Macario is a Seattle area mom who’s incredibly impressed with Allyssa and her classmates.

Wednesday, September 19, 2012

What you need to know about children with Down syndrome

by Anne Hart from Savannah Now:
When it comes to explaining her son’s Down syndrome to the general public, Wendy Tobiasz’s approach is refreshingly simple and downright honest: Joshua is “more alike than different,” she says.
“A child with Down syndrome is much more like you than different from you,’’ the Wilmington Islander said of her son, a first-grader at May Howard Elementary. “They love their family and friends and want to be loved back. They have things they are great at and things that are hard. They are funny, silly, energetic, naughty and sweet. They get their feelings hurt. They are proud when they accomplish something good. They get into trouble. They want to fall in love, have a job and live independently — and the list goes on and on.”
Which is why it makes so much sense that children with Down syndrome are in mainstream classrooms and playing mainstream sports. Many adults with the condition have jobs and live independently.
“If you feel it, struggle with it or want it, then someone with Down syndrome does, too,” Tobiasz said.
A photo of Joshua, 7, smiling in his karate uniform was among 200 chosen from 1,000 worldwide to appear in the New York City Buddy Walk Times Square video presentation this year. The video presentation will be followed by the NYC Buddy Walk.
The goals of the Buddy Walks — held in 250 cities nationwide in October, including Savannah — are to promote acceptance and inclusion of people with Down syndrome and to positively influence local and national policy and practice.
Despite huge efforts for public education about Down syndrome, Tobiasz said, unfortunately many antiquated stereotypes persist — including that children with DS can’t learn or “do” what typical kids do.
Her son and other children with DS daily shatter those stereotypes.
Joshua’s knack for sports — mainstream karate, basketball, T-ball, soccer — particularly helps to extinguish any misconceptions.
“People with DS are life-long learners,” Tobiasz said. “They may need adjustments in their learning style or to progress at a slower pace, but they can learn and ‘do’ just about anything.”

What parents need to know
In anticipation of the Seventh Annual Lowcountry Down Syndrome Society Buddy Walk Festival in Forsyth Park on Oct. 6, local parents of children with Down syndrome shared what they say parents of a child newly diagnosed with the condition need to know.
“First and foremost, they should be congratulated on their new gorgeous baby,’’ Tobiasz said. “Then they should simply love and care for him or her as any baby needs. The path they find themselves on isn’t the path they expected, but it is a beautiful and magical path. The emotions are overwhelming in the beginning, but rest assured that they will love their baby fiercely.”

Joe Marchese, a well-known local advocate for Down syndrome awareness, treasurer of the Lowcountry Down Syndrome Society and the father of three girls including Ella, who has DS, shared the following tips for parents:
1. Start speech therapy at 3 months old. “I know that they cannot speak, but the muscles needed for speech in the mouth and tongue need to be developed.” Always use a sippy cup with small round spouts.
2. Encourage swinging and spinning during play time. The sensory movements develop connections in the brain.
3. Communicate appropriate stages of development. For example, tell her grandmother that Ella will not walk until she is 3. Then when she walks at 2, it is a great success.
4. Teach your child sign language. Knowing where it hurts is a great help in making it better.
5. Find a doctor who loves all children.
6. Watch Aimee Mullins’ “The Opportunity of Adversity” on

7. Stand firm on inclusion.
8. Remember that your child is perfectly made.

And I have to add: Join the Lowcountry Down Syndrome Society, because this group’s enthusiastic, informative and positive families are certain to be a huge support. Contact the Lowcountry Down Syndrome Society at or email

Tuesday, September 18, 2012

Dad battles to get son with Down syndrome back on playing field

by Shawn Windser, Detriot Free Press and
Until last December, nothing scared Dean Dompierre more than the thought of speaking in public. If this seems odd for a man who teaches science and social studies to fifth-graders, well, Dompierre understands. He’s equally baffled.
Still, Dompierre knew that if he were going to have any chance to convince the Michigan High School Athletic Association to change its rules to allow his son to play football during his senior year, he would have to overcome his deepest phobia.
He feared letting down his son, Eric, even more.
Eric Dompierre was born with an extra copy of chromosome 21, a genetic fluke that slows cognitive function and generally stunts physical growth. Jill and Dean Dompierre worried for their son’s future when he was born with Down syndrome 19 years ago. They never imagined that one day Eric would be driving, or working, or enjoying friendships. Or playing high school football.
Certainly the father never figured football would become so central to his son’s identity. But it did. And because Eric needed to be held back in his early years of elementary school, Dean knew his son would be too old to play his senior year — the MHSAA dictated that kids can’t participate in sports their senior year if they turn 19 before Sept. 1.
This realization sent Dompierre on a 2-year odyssey that landed him on national television and the floor of the state Legislature, that taught him to navigate social media and to wield the power of public opinion, that expanded his world from a middle school classroom tucked in an old brick schoolhouse a few minutes from Lake Superior to the home office of the statistician of the Detroit Lions.
Along the way, Dompierre and his son became local celebrities, proxies for anyone who ever tried to fight the Man. Everywhere the father turned, someone offered to help — politicians, principals, computer programmers, neighbors and fathers in communities downstate who had heard about Dompierre’s crusade and figured he was fighting for their children, too.
Two weeks ago, a 5-foot-2-inch, 125-pound senior at Ishpeming High ran onto the football field with his teammates. His father and mother were in the stands, along with his grandparents on both sides and several cousins and family friends.
Eric didn’t wave. Or nod. Or give his extended family any hint that he knew they were bunched up in the stands -- he is, after all, a teenager. His father didn’t mind, though. That he was on the field was enough.
Dean Dompierre, 48, recently began his 26th year of teaching middle school. His father, Dave Dompierre, was a teacher, too. A couple of weeks ago on a Friday afternoon, Dean Dompierre broke down photosynthesis for a roomful of fifth-graders in Ishpeming. Outside, clouds formed overhead and Dompierre cracked the windows to let the cool, damp breeze flow in.
Downstairs, in another section of the building that houses the high school and the middle school, Dompierre’s son sports his game-day jersey in study hall.
Eric fit into these halls so seamlessly that he didn’t know he had Down syndrome until the ninth grade, when his father took him into their basement sauna so they could talk. Eric was playing on the freshman football team, attempting extra points. After he made his first one, a local TV station wanted to do a human interest story.
Dompierre and his wife didn’t want to tell Eric he had a disability because they didn’t want to give him an excuse not to do something. But they agreed to do the story and decided it was time to tell Eric.
“So we are taking a sauna … and I said, ‘Have you ever heard of Down syndrome?’ He said no. I said it’s a condition where there is an extra chromosome.
“I said some people consider it a handicap. You know how sometimes for kids with Down syndrome it’s hard to catch on to things? That’s why sometimes it’s a little harder for you to catch on to things. … But once you do catch on you remember it well. You have a great memory. … That’s just the opposite of me. I can catch on to things quick, but I can’t remember them. So you and I are both in the same boat.”

Monday, September 17, 2012

Carrie McLaren: Learning the Language of Special Needs

by Carrie McLaren from
When my youngest daughter, Molly, was born with Down syndrome in 2010, I knew absolutely nothing about the special-needs world. It was an entirely new place for me, and besides the fear and shock of her diagnosis, I was scared for what the future held for our family.
In the months following Molly’s diagnosis, I wanted to educate myself on the language associated with Down syndrome. It was important to me to learn right from wrong and the proper usage of terms, but also understand how to help others come to terms with Molly’s condition.
As we’ve grown as a family, I’ve found it therapeutic to talk with others about Molly’s diagnosis. Yet, I’ve noticed there seems to be an uneasy feeling when others talk about Molly’s condition. It’s not a fear of asking questions or loving Molly — there’s certainly no shortage in that area. It’s the not knowing of how to actually refer to her condition.
The National Down Syndrome Society site’s preferred language reference guide is a wealth of information for a mom like me, new to the special-needs world.
And based on the knowledge I’ve gained from them, here’s my gentle introduction to the preferred language when referring to individuals with Down syndrome (or any disability for that matter).
People don’t “suffer” from Down syndrome and they certainly aren’t “afflicted” with it either.
Down syndrome isn’t a disease; you can’t “catch” it. It’s a chromosomal condition. In fact, there are 400,000 Americans living with Down syndrome.
While many times it’s referred to as Down’s syndrome, the preferred American usage is Down syndrome. English physician John Langdon Down characterized the condition but did not have it.
Individuals with Down syndrome (and any disability) should be referred to as people first. Always. Rather than “a Down syndrome girl” or a “Down’s child,” the proper wording should always be “a child with Down syndrome.” No exceptions.
This last one is the big one for me. A person should never be labeled by his diagnosis or condition.
While I understand that some may see this as trivial, to a parent of a child with special needs it’s extremely important and somewhat personal, too.
I want my daughter to be recognized as an individual, not by the fact that she just happens to have an extra chromosome.
I believe a “people-first language” should be applied to all people of all walks of life, not just individuals with Down syndrome. Everyone deserves the right to be thought of as a person and not as his disability.
I don’t feel it’s my place to correct others when they reference it incorrectly, because honestly before Molly was born I didn’t really know the “proper” way either. The only way to strengthen a community is to educate a community.
I may not be an expert in much, but I’m a mom raising a child with Down syndrome. I like to think that makes me an expert in love, understanding and kindness, too.


Friday, September 14, 2012

Man with Down syndrome sues NHS trust over 'do not resuscitate'

From the AFP:
LONDON — A man with Down's Syndrome is taking legal action against an NHS trust after medics placed a 'do not resuscitate' (DNR) order on his file without his family's knowledge, they said Thursday.
The 51-year old, who suffers from dementia and is fed through a tube into his stomach, was admitted to the Queen Elizabeth the Queen Mother Hospital in Margate, Kent, from September 7-26 last year.
Despite his family and carer visiting him daily, and his parents meeting clinicians, the DNR order was discovered only when the man -- referred to as AWA -- returned to his residential home.
The order told staff not to perform resuscitation if AWA suffered a cardiac or respiratory arrest, giving his disability as the only reason, and offering no possibility of review.
A family member known as Mr X, who is handling the legal action against East Kent Hospitals University NHS Foundation Trust on his behalf, said: "We were all shocked to find out about what had been put into AWA's notes without our knowledge.
"One member of the family at least was in the hospital practically every day and could have been consulted about the decision.
"We are bringing this action to highlight the issue and to make sure that something like this cannot happen to another loved son and brother."
Merry Varney, from the human rights team at the man's lawyers Leigh Day & Co, said: "This is definitely one of the most extreme cases we have seen of a DNR order being not only imposed on a patient without consent or consultation.
"To use Down's Syndrome and learning difficulties as a reason to withhold lifesaving treatment is nothing short of blatant prejudice.
"If an individual was physically preventing a doctor from administering life-saving treatment to a disabled relative, it would undoubtedly be a matter for the police, yet we see doctors taking this decision without consent or consultation regularly."
Dr Neil Martin, medical director for the NHS trust, said: "The Trust cannot comment on this individual case because it is subject to ongoing legal proceedings.
"East Kent Hospitals has put a great deal in place in recent years to meet the needs of vulnerable patients, including practical steps to improve communication with people with learning disabilities and their carers.
"It has a clear and robust policy in place on 'do not attempt cardio-pulmonary resuscitation' which complies fully with national guidance from the professional bodies."

Thursday, September 13, 2012

The Next Chapter Book Club

from The Next Chapter Book Club (NCBC):

The Next Chapter Book Club (NCBC) offers weekly opportunities for people with developmental disabilities (DD) to read and learn together, talk about books, and make friends in a relaxed, community setting.  A program of The Ohio State University Nisonger Center, NCBC was established in June 2002 to provide adolescents and adults with DD – regardless of reading ability – the chance to be members of a book club.  NCBC has become the preeminent program of its kind.  Today there are NCBC programs in over 100 cities across North America and Europe.

Individual Next Chapter Book Clubs usually consist of five to eight people with disabilities and two volunteer facilitators, some of whom also have disabilities.  The clubs meet in local bookstores, caf├ęs, and similar gathering places to read aloud and discuss a book for one hour each week.  Much like members of any other book club, NCBC members choose the book they want to read and howthey would like to structure their club.  NCBC members read adapted classic novels (i.e. Little Women and Treasure Island) as well as current, popular literature.

Get Involved in the Next Chapter Book Club
Do you live in Central Ohio?
Is there an NCBC Affiliate in your city?
How can I bring the NCBC to my community?

Jot It Down is a writing club for adults and adolescents with intellectual and developmental disabilities. Following the model of the Next Chapter Book Club, Jot It Down promotes social interaction and full community inclusion for its members. Members of Jot It Down work individually and collaboratively to write stories, poems, letters, MadLibs, and other projects.

Chapters Ahead, Inc. is a nonprofit organization providing training, consultation, and a variety of materials to promote lifetime learning, social interaction, and full community participation for individuals with intellectual and developmental disabilities. We are particularly interested in developing practical strategies and solutions that allow persons with disabilities to become valued and productive members of the community. Chapters Ahead grew from our experience developing and disseminating the Next Chapter Book Club, an internationally recognized literacy program for adolescents and adults with disabilities.

Wednesday, September 12, 2012

BBC asks Archers listeners to vote on future of Down's Syndrome baby

Fans of The Archers have protested at a “tasteless” BBC poll which asked them to vote on whether characters in the Radio 4 soap should abort their Down’s Syndrome baby.
The characters, Mike and Vicky Turner, recently learned from the results of an amniocentesis that their unborn baby has the syndrome.
The programme’s official Facebook page invited listeners to vote on what the couple should do next.
A message read: “Mike and Vicky’s dilemma makes up this week’s vote: should they go through with the pregnancy?”
Listeners complained that the BBC was treating a serious issue so lightly.
“Can’t help thinking this vote a little distasteful?” said one.
Another wrote beneath the vote message: “What a disgusting poll to run,” while others called it “disturbing and upsetting”, “crass”, “offensive” and “tasteless”.
One listener commented: “I was very surprised when I saw this poll. The storyline is hard, the considerations are complex and any decision will be fraught with doubts - not a scenario which can be answered by yes/no, by people who have never been there. Please remove this poll.”
Initially, the BBC defended the vote, writing on Facebook: “Sorry you feel this way. The polls tend to reflect the storylines that are most talked about in the programme, and this is Vicky and Mike’s dilemma. The result of the poll doesn’t affect the outcome of the storyline.”
However, it later bowed to calls for the vote to be removed from the website.
Writers for The Archers worked on the storyline in conjunction with the Down’s Syndrome Association, who described the vote as “unfortunate”.
A spokesman for the association said: “The scriptwriters wanted to get it right and they have been a joy to work with. They have been very thorough and the storyline shows the discussion that happen on a day-to-day basis as parents go through the screening process.”
A BBC spokesman said: "The Archers storyline on Mike and Vicky’s pregnancy has been well-received by the audience and raises a number of important issues about Down’s Syndrome, informed by the advice and expertise of the Down’s Syndrome Association.
"However this issue is too complex and sensitive for an online poll and we regret any offense the poll may have caused.”

Tuesday, September 11, 2012

10 years after 9/11, a dad’s love triumphs over terror

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He’s devoted his life to his family: ‘When my kids smile, the terrorists lose’

‘They lost; we won’
We all tell our kids, “I’ll be right back.” After 9/11, some children didn’t believe that. Victoria Alonso’s mother, Janet, went to work at the World Trade Center that morning and never returned. Her dad was left to care for a 2-year-old daughter and a baby boy with Down syndrome.
“If I was to tell you I did this by myself, I’d be a liar; I’d be a flat-out liar,” Robert said. “I got my mom, my aunt, my pop to help.”
But he never returned to work at the pizza place he owned in Stony Point, New York. His family substituted for him. “I owe it to my children to be around,” Robert explained. “If I buried my grief in work, my kids would lose both their parents.”
He no longer put off anything that brought them joy. “If we’re lying on the floor and all of a sudden Victoria says, ‘Daddy, I want to go to the park,’ I’m like, ‘Oh, I don’t want to go to the park.’ That’s what I’m thinking, but I say, ‘Let’s go. We’re going to the park.’ ”
Robert shouted “Hang on, guys!” as the kids squealed with laughter. They were riding in a grocery cart, careening across the lot toward dad’s big SUV. “Why should I deprive my children from going shopping?” Robert said. “I see all the other mothers going shopping with their kids.  Why can’t I do it?”
He raced alongside the grocery cart, jumped on its rear axle and pushed with a powerful leg.  The children exploded with laughter again. “When my kids smile, the terrorists lose,” Robert said with a grin. “The people who killed Janet wanted to destroy our happy lives. They lost. We won.”
Since 9/11 Robert has taught his children to treat every moment like an unopened gift. “I don’t want to be the rain cloud in my family,” he said. “I want to give my kids the incentive to do things and go forward.”
He coached Victoria's softball team to the New York State championship the year she turned 12. “We all went out and bought rounds of Lipitor,” Robert chuckled.
And toasted his son Robby, too. The 10-year-old learned to walk and read before most kids with Down syndrome because his dad played with him every day.
Robert waited a long time for his family. He and Janet tried to conceive a child for 10 years, then gave up. Two months later, she was pregnant. They considered it a victory, so they named their daughter Victoria.
These days, when Victoria looks in the mirror, she sees her mother. “She was special to me,” Victoria said, even though she can barely remember her mom. “I love her.” She paused. Her eyes welled with tears. “People need to know that.”
The two are much alike. Victoria is an honor student; Janet studied nights and weekends for years and graduated from college in her late 30s. She worked as an email manager on the 97th floor of the World Trade Center. On the day of the attacks, she had just gone back to her job at Marsh & McLennan after staying home to take care of her second baby, Robby.
Janet’s body was found seven months after 9/11, on her son’s first birthday. “God works in funny ways,” Robert sighed. “Hearing the knock on the door and the news that Janet’s body had been recovered from Ground Zero, that was the most difficult. It really knocked me out. It was like September 11 all over again.”
I visited the Alonsos on the first Mother’s Day after 9/11. Robert scooped up his kids and carried them out on the deck in back. “Come on,” he said, “let’s say hello to mommy in the stars.” It was his 13th wedding anniversary.
As Victoria neared her 13th birthday, I asked her, “If your mom were sitting here today, what would you ask her?"
Victoria stared across her backyard in thought, then turned to me. “I’d ask her, ‘What would she want to do with me today?’ ”
Good times keep bad memories at bay. The Alonsos spent that 9/11 in the park, near a memorial that their neighbors built to Janet and all the other parents from their New York City suburb who went to work that day but never came home.
Robby wandered to a wall filled with names as his father and sister played catch nearby. “Right here,” he said, pointing to Janet Alonso’s name etched in marble. “This was my mommy.”
The little boy leaned over and scraped his fingers back and forth across his mother’s name. His father watched, then rubbed his own hands together, as if he could scour away painful thoughts.
Robby drew his fingers to his mouth, kissed them and gently pressed them on his mother’s name. “Mama,” he whispered.
We all think about 9/11 once a year. The Alonsos live it every day.