The Noblest Cause Of Our Time: Saving Lives

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 We need to leverage technological advances to rethink how we conduct research and break down outdated administrative and procedural hurdles.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.

Hahnville grad with Down syndrome becomes advocate for those with disabilities

 by Kyle Barnett from the St. Charles Herald Guide:
Craig Blackburn has a motto by which he lives.
“Never give up. That’s my message. Never give up,” he said. “If you have fears don’t look back, look ahead.”
That is a message the 34-year-old Hahnville High School graduate has been carrying through his entire life, and Blackburn has had to overcome a lot. He was born with Down syndrome as well as a heart defect that had to be repaired through open heart surgery when he was an infant.
Now, Blackburn has been able to accomplish so much that he has become an advocate for others with disabilities.
He is on the board of the Down Syndrome Association of Greater New Orleans and regularly travels the region and country giving speeches to educators and those within the disabled community. In recent years, he spoke to a crowd of 1,300 at Tulane University and also traveled to Qatar to give a speech.
“It’s about educators and families and their child’s future to tell them they can do it and not to give up on their dreams. When I do my presentation it is like making them believe what they can do and don’t look back,” he said.

Babies with Down Syndrome Living Longer, But Disparities Still Seen with Black Infants

from Afro.com:
The occurrence of Down syndrome and the number of fatalities related to the condition have decreased among American children, according to a new study. However, Black children with Down syndrome remain twice as likely to die.

A study published in the medical journal Pediatrics tracked 16,506 infants, born between 1983 and 2003 in 10 different sections of the country. Researchers found that survival rates in the first month of life have remained relatively steady, but the rates of survival to ages 1, 5, and 20 have all increased.

However, a disparity remains between survival rates of White and Black children with Down syndrome.

“The survival of children born with [Down syndrome] has improved and racial disparities in infant survival have narrowed,” said the report, published in December. “However, compared with non-Hispanic White children, non-Hispanic Black children have lower survival beyond infancy.”

According to information from the Centers for Disease Control and Prevention, African American infants with Down syndrome are twice as likely to succumb to complications related to the condition.

Children born at 3.3 pounds or less, which can occur naturally or as a result of smoking while pregnant, are 24 times more likely to die.

Heart health also plays a major part in survival rate, according to the Pediatrics report.

“Congenital heart defects are a significant risk factor for mortality through age twenty,” the study found, putting the increased risk at five times that seen with children born without the condition.

Humans typically have two sets of 23 chromosomes, or a total of 46 gene pockets that control development both inside and outside of the womb, according to the CDC. 

Children with Down syndrome, however, have a total of three copies of the chromosome 21, which can affect how a child develops mentally and physically. Roughly one infant out of every 700 born will have Down syndrome.

While there is no way to prevent the development of Down syndrome, having a baby after age 35 dramatically increases the risk of giving birth to an infant with the condition, according to the American Congress of Obstetricians and Gynecologists. The organization strongly recommends that every pregnant woman make use of the tests available to determine risk of the syndrome and other chromosomal disorders, no matter what their age. The tests include ultrasounds should be taken within the first 20 weeks of every pregnancy.

According to the organization, blood tests and specific ultrasounds can show doctors early warning signs for Down syndrome by getting accurate readings on the “thickness of the neck and back area,” one indicator of the presence of the condition.

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

By Anne Geggis from Sun Sentinel:
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.

Toddler with Down syndrome who inspired "Banana Split Parties" worldwide passes away

from The Daily Mail by Kristie Lau and Snejana Farberov:
Ryan Roberts, the 22-month-old terminally ill toddler who inspired thousands of families to host ‘Banana Split’ parties for their kids, passed away on Sunday.
His mother, Diane Roberts, posted on her Facebook page that her son ‘fought as in typical Ryan fashion - he ignored our words telling him it was OK to go.’
‘At approximately 12:10 while I held Ryan in my arms and daddy held him as well – surrounded by so many who loved him Ryan drew his last breath. He is without oxygen, medicine, tubes, wires, and HURT – he is at peace,’ Mrs Roberts wrote.

The night before his passing, the little boy slept peacefully, Roberts told TODAY Moms. ‘His monitor did not beep the entire night,’ she said. ‘He had a fabulous night.’
Four weeks ago, Diane and Erik Roberts, of Pittsburg, Pennsylvania, made the heart-rending decision to issue a Do Not Resuscitate order for Ryan when they were told by his doctors that after four surgeries, there is nothing else that can be done for their son.
Ryan was born on September 12, 2010, with Down syndrome compounded by a congenital heart defect.

His story captured the hearts of people the world over after his mother asked parents to serve their children banana split desserts for dinner as a way to create lasting memories in her son’s honor.
'Who cares if your children don't get their veggies one night for dinner, allow them to "break the rules" for just one night and think of a special little boy while you're doing it!!' the Facebook invitation read.

A friend created a Ryan's Banana Split Party page on Facebook, and more than 76,000 people have responded, posting photos from their ‘Banana Split’ parties.
Photos from as far as Abu Dhabi, South Korea and Italy have been posted on the page as support from all over the world continues to pour in.
Mrs Roberts told HLNtv.com in June: 'We're just shocked at all these Banana Split parties that are going around for Ryan. Who would have thought a 21-month-old could have brought so many smiles to so many faces?'
Knowing that their son was quickly slipping away, his parents spent the past weeks checking items off a special bucket list they created for him made up off all the things he could have experienced if given the chance to grow up.
Ryan got a fake tattoo, was issued a 'speeding ticket' by visiting Pittsburgh police officers, rode a bike and shared a (root) beer with his dad to celebrate his 21-month-birthday.

‘He's a real bad ass,’ his mother said jokingly at the time.
Last week, the Roberts family spent the Fourth of July together at Children's Hospital of Pittsburgh, where they took Ryan to the roof of the parking garage to watch the fireworks.
He fell asleep before they were launched, Mrs Roberts said, ‘but we were all there together.’
His parents did not expect Ryan to go quite so soon, having thought that he had a couple more weeks left.
‘Last Sunday, I was lying out on the grass with him,’ his mother said. ‘The next Sunday, he was gone.’
Family and friends will gather on Friday for a private celebration of Ryan's life in Pittsburgh. Others who wish to honor Ryan can do so by writing memorial messages on balloons and releasing them into the sky at 8.30pm on Friday.

Family makes bucket list for baby with only weeks left

By Amanda Sloane, HLN TV:

He’s not even two years old but he is already checking things off his bucket list: from the simple stuff like petting a puppy and riding a bike, to drinking a beer with his dad (root beer of course, in honor of his 21^st month birthday) and getting a speeding ticket for going too fast in the hospital.

Ryan Roberts' parents want him to live his life to the fullest; he was born with Down Syndrome and a heart defect and has little time left.
When doctors told them there was nothing else they could do for Ryan’s heart, they stopped his supportive cared and declared him a DNR -- Do Not Resuscitate. Diane Roberts took to her Facebook page to let out her frustrations.
“People kept asking, ‘What can I do for you?’ We didn't want anything,” she tells HLN. “We didn’t want the people to bring stuffed animals and balloons. His room is filled with balloons. “
Her suggestion was a simple one: “I said, just go create a memory with your kids. Just go put a banana split down in front of your kids for dinner and watch their faces light up. No chicken, rice and broccoli tonight, just ice cream. They're going to remember that forever.”
Her friend launched a Facebook event called "Ryan's Banana Split Party," asking people to fulfill Diane's wish. And what started with just a handful of friends quickly exploded to almost 20,000 people, who have pledged to hold their own banana split parties in Ryan’s honor.
“It's so crazy how this all started,” she says. “I said something to one person about having a banana split with your family and about two weeks later there are 18,000 people on the Facebook page.”
Families from around the country have posted messages of support along with pictures of their ice cream parties. You'll see McFlurrys at a McDonald’s in Texas, banana splits on the last day of school in Vermont, Dippin’ Dots in Pennsylvania  -- and on and on. It’s hard to scroll through and not get a little teary-eyed at the overwhelming support from all of these people who have been touched by Ryan’s story.
If you've been inspired and want to send your support to Ryan's family, it’s easy to do. Find Ryan’s Banana Split Party on Facebook and upload your words of encouragement and pictures right there on the wall.

By Gordon Loesch/NBC News:
A Pittsburgh, Pennsylvania family faced with a difficult decision is hoping people across the world will be inspired by their 21-month-old son.
Ryan Roberts was born with Down syndrome and a congenital heart defect.
Doctors recently gave Ryan only weeks to live, but Ryan's parents said they're making the most of every minute.
Inside Children's Hospital of Pittsburgh, where Ryan has spent most of his life, his parents are making sure the little boy gets to experience some simple joys like petting a puppy, finger painting, having a beach party and riding a bike.
Ryan's bucket list gained international attention on Facebook after a friend of the family created a page for "Ryan's Banana Split Party."
Diane and Erik Roberts said they have received photos of people having a banana split in honor of Ryan from across the country and around the world.
Almost 5,000 people agreed to attend the party.
"I wanted people to just not take tomorrow for granted and go home and create a memory with your children where you just have a banana split for dinner," said Diane Roberts.
The outpouring support from family, friends and perfect strangers has helped the Roberts through a difficult time.
Diane and Erik Roberts said they recently made the heart-wrenching decision to sign a do not resuscitate order.
"We just call him Superman because everything he's been through. It just shows a pretty incredible amount of strength," Diane Roberts said. "Nobody is giving up on him. Nobody gives up on him. But they just know when he's suffering. It's just not fair."
The blood flow to Ryan's heart is too much, leading doctors to believe that the little boy only has weeks to live.
Ryan was only given a 10 percent chance of being born alive, and his parents said he wasn't expected to survive his last surgery.