Wednesday, November 30, 2011

Are Kids With Down Syndrome on the Road to Extinction?

From Time magazine.  Tuesday November 29, 2011.
Courtesy Becker family

Perhaps the most important thing you need to know about Melanie Perkins McLaughlin is that she's not pro-life or pro-choice or pro anything — other than pro-information.

When a distraught pregnant woman phones a Massachusetts hotline for Down syndrome, agonizing over what to do with an unexpected prenatal diagnosis, she will be routed to Perkins McLaughlin, who went through the same awful calculations in 2007. When Perkins McLaughlin learned halfway through her pregnancy that her daughter would have Down syndrome, she nearly decided to end the pregnancy for fear of what it would do to her marriage and her two older children.

As part of her decision-making process, she met with two families, each with a 5-year-old with Down syndrome. One child chattered away and played hide-and-seek with Perkins McLaughlin's own kids, whom she'd brought along. The other child was non-verbal. Both sets of parents told Perkins McLaughlin, a documentary filmmaker who lives near Boston, that they loved their kids just as they were; even if they could pluck that extra 21st chromosome from each and every cell, they wouldn't change a thing. "I figured they were saying that," she recalls, "only because they didn't have a choice."

But now, increasingly, parents do. Recent advances in prenatal screening are upending the way pregnant women learn about the genetic makeup of their unborn babies. In October, a San Diego biotech company began offering an exceptionally accurate maternal blood test for Down syndrome that can be administered as early as 10 weeks, long before a woman looks visibly pregnant. A study published last month in the journal Genetics in Medicine found that the DNA-based test, called MaterniT21, identifies 98.6% of Down syndrome pregnancies, with a false-positive rate of 0.2%, an achievement that study author and Brown University professor Jacob Canick hailed as a "major step for prenatal diagnosis."

Even without the new test, births of babies with Down syndrome have been decreasing even as they should have been on the rise: they dropped 15% between 1989 and 2005 due to more sophisticated prenatal screening even though increasing maternal age means they should have increased 34%, according to an article published in 2009 in the Archives of Disease in Childhood. Parents of children with Down syndrome are beginning to wonder whether the services and accommodations they've fought hard for could fade away if kids like theirs are slowly weeded out of the population. "You want a perfect baby, and the easiest thing to do is to eliminate a child that won't fit into that mold," says Theresa Howard, a N.J. ad copywriter who found out after her daughter, Lydia, was born in 2006 that she had Down syndrome.

The most common chromosomal disorder, Down syndrome — also called trisomy 21 because the fetus carries an extra copy of the 21st chromosome — has historically been diagnosed only through amniocentesis or chorionic villus sampling, both invasive procedures that carry a scary, if small, risk of miscarriage. Only 2% of all U.S. pregnant women have those tests, although the percentage can shoot to 60% when women receive questionable screening results or are labeled "high risk" because they're older than 35. But since most Down syndrome babies are born to younger women, because they're the ones giving birth most often, the majority of the 6,000 babies born with Down syndrome each year in the U.S. are complete surprises.

Some doctors predict that will change, now that there's an easy and risk-free way to identify Down syndrome early. Many women who may have been reluctant to risk a miscarriage with other tests are eager to try the new test. "I have been getting emails for months and months from people all over the world," says Marcy Graham, spokeswoman for Sequenom, the company that developed the MaterniT21 test. "There is so much anxiety around the thought of having a child anyway, and there's something about having this needle put in their stomach that's really terrifying."

Insured women will pay $235 to learn their chances of having a baby with Down syndrome; the test will otherwise cost $1,900.

But with women learning more about the genetic contents of their womb than ever before, a growing number of expectant parents will be faced with wrenching ethical dilemmas when the news is not what they expected. What is the value of a life? What can a person with a disability contribute to humanity? Which disabilities are tolerable and which are not?

Most people with Down syndrome have what are considered mild to moderate intellectual disabilities. There is no national registry for people with Down syndrome, so there are no reliable statistics on how many affected people would be classified as "high-functioning." For Amy Julia Becker, who has written a book about life with her daughter, Penny, who has Down syndrome, coming to terms with her daughter's intellectual limitations has taken time. "I went to Princeton, I graduated Phi Beta Kappa, I have always been smart," she says. "I didn't realize how much I assumed I'd have a daughter just like me. Having Penny really challenged me to rethink what it means to be a whole and full human being."
In her book, A Good and Perfect Gift, Becker transcribes a journal entry written soon after Penny was born: "Can she live a full life without without ever solving a quadratic equation? Without reading Dostoyevsky? I'm pretty sure she can. Can I live a full life without learning to cherish and welcome those in this world who are different from me? I'm pretty sure I can't."

But many expectant parents don't feel that way. Up to 90% of women who know in advance of a Down syndrome diagnosis choose to end the pregnancy, according to the few studies that have tracked this. The new test is not being marketed only to women who would end a Down syndrome pregnancy, say advocates of testing. Mothers who plan to have the baby may also want to know ahead of time in order to prepare emotionally and medically; half of infants with Down syndrome, for example, are born with heart defects. "I don't think it's all search-and-destroy," says Canick. "That is an awful way of looking at this."
But parents of children with Down syndrome are skeptical of the intent of early screening. "There is a real disconnect between hospitals, administrators and OB/GYN doctors' understanding of what has changed for children with Down syndrome over the years," says Howard, whose daughter, Lydia, starts conversations with strangers and cracks jokes in her inclusive preschool. "There was encouragement to get screened with the understanding that I would terminate because that's what most people do."
It's true that mothers who learn soon after delivery that their babies have Down syndrome describe being overwhelmed with sorrow and disbelief on what they'd presumed would a joyous day. Howard cried every day for nine months after Lydia was born. Perkins McLaughlin says it took her eight hours after her C-section to muster the nerve to go visit her daughter, Gracie, in the neonatal intensive care unit. "There are people out there who feel the test is great," says Perkins McLaughlin. "In some ways, it is great. But it is scary too. Will more people terminate because it's earlier in the pregnancy and why not just try again? I don't know what I would have done if I had found out at 10 weeks."

Gracie is now 3 1/2. In the two years since Perkins McLaughin, now 44, has served as a parent mentor for the Massachusetts Down Syndrome Congress, she's told the dozen or so conflicted pregnant women who have contacted her that Gracie is bright: she started signing at six months and had accumulated 100 signs by age 2, prompting her grandmother to ask, Are you sure she has Down syndrome? She loves music, dancing and her older brother and sister. Perkins McLaughin tells them how Gracie has added perspective to her life, softening her Type-A edges. "She's not going to do quantum physics, but I don't do quantum physics," says Perkins McLaughin. "Gracie has showed me in a profound way that I am not in control of everything. I have a bumper sticker that says, Grace Happens."

As a parent mentor, Perkins McLaughlin is trained to remain "very neutral," says Maureen Gallagher, executive director of the Congress. Mentors offer current information about Down syndrome, sharing that life expectancy has increased from 25 to 60 years, that early intervention and a shift in educational approaches mainstreams many kids with Down syndrome in typical classrooms, that young adults are no longer institutionalized.

To help provide more context for women who receive a prenatal diagnosis, Brian Skotko, a doctor in the Down syndrome program at Children's Hospital Boston who also chairs the clinical advisory board for the National Down Syndrome Society, recently published three surveys — of people with Down syndrome, their parents and siblings — in the American Journal of Medical Genetics.

It's quite possible that parents who don't feel positive about their children chose not to participate — after all, what mother or father would feel comfortable admitting they don't love their child? — but of the more than 2,000 parents who responded, 99% said they loved their child with Down syndrome. Just 4% said they regretted having their child, and 5% reported feeling embarrassed. Among siblings age 12 and older, 4% said they'd trade their brother or sister with Down syndrome for another; 88% said they felt they were better people because of their sibling. A third study analyzed responses from 284 people with Down syndrome: 99% said they were happy with their lives; 4% expressed sadness.

"When expectant mothers get a prenatal diagnosis of Down syndrome, it is an alarming moment," says Skotko. "They question, Can I love a child with Down syndrome? Can my other children? While families certainly recognize there are unique challenges that come with having a family member with Down syndrome, overall they say it is a positive and even rewarding experience."

That's a message that advocacy organizations are eager to spread. For years, they've lobbied for their children to be recognized as contributing members of society. If fewer babies with Down syndrome are born, they worry that research about the condition will taper off.  "We feel a sense of urgency now more than ever," says Gallagher.

In anticipation of a surge of calls from women who can now easily learn early in pregnancy that their fetus has Down syndrome, she has assembled a core group of parents, like Perkins McLaughin, who also got a prenatal diagnosis. "We respect people's right to choose," says Gallagher, "but it's important for them to understand the implications because this is just the beginning — there will be other tests."

Read more:

What do you think?

Be gentle.

Tuesday, November 29, 2011

How cute is this?

Saw this article.  Beautiful.....................

The London Telegraph newspaper features a story on little Taya Kennedy, a 14-month-old girl who has Down’s Syndrome but has taken the modeling world by storm. The camera loves her and she now has her own modeling agency that is booking her gig after photogenic gig.
Kennedy is just another example of the joy such children and people with Down syndrome bring to the world but who, tragically, see their lives snuffed out by abortion at a 90 percent rate.
From the story:
‘Taya is an incredibly photogenic, warm and smiley child, and that shines through in her photographs,’ says Alysia Lewis, owner of Urban Angels, the prestigious UK model agency that has signed her up.
‘We only open our books twice a year and select just a few new children each season.
‘The standard is high; the desire for places strong. Taya is one of 50 children we chose from 2,000 applicants.
‘That she has Down’s Syndrome did not enter the equation. We chose her because of her vibrancy and sense of fun. Not all children are comfortable in front of a lens and with a photographer looking at them — especially when they are so young. But Taya was so relaxed and happy. She was just what we were looking for.’
Gemma Andre, Taya’s mother, says she is offended when people come up to her and tell her they’re sorry her daughter has Down syndrome.
‘I always believed my daughter was stunning but I thought, “I’m her mum. I’m biased,”’ she says.
'When people say ‘When people say “poor you” I find it offensive and irritating,’ said Taya’s mother Gemma
‘When the agency rang me and said, “We want her on our books. She’s absolutely beautiful”, I was delighted.
‘I asked them if they were aware she had Down’s Syndrome. They said: “It’s immaterial. We’ve accepted her.” At that moment I burst into tears. I was overjoyed, not so much because Taya was going to be a model. More importantly, she had competed on equal terms with every other child and succeeded.
‘People can be really negative about children with Down’s. They say they can’t do this and won’t be able to achieve that. It’s incredibly frustrating. Someone said to me the other day: “I suppose she’ll never be able to live an independent life,” and I said, “Why on earth not?”
‘When people say “poor you” I find it offensive and irritating. The way I see it, some people cannot even have children and God has given me this special child.’
That’s the attitude more people need to have about special needs children — all of whom were born under a threat much bigger to their lives than any medical condition or chromosomal disorder they may face: abortion.
Gemma says her daughter will go on to experience a happy, productive life — something 99 percent of people with Down syndrome say they have.
Researchers at Children’s Hospital in Boston surveyed families where a member had Down Syndrome and found that Down Syndrome is a positive.
Among 2,044 parents or guardians surveyed, 79 percent reported their outlook on life was more positive because of their child with Down syndrome…. Skotko also found that among siblings ages 12 and older, 97 percent expressed feelings of pride about their brother or sister with Down syndrome and 88 percent were convinced they were better people because of their sibling with Down syndrome.
Read the rest of this touching story here.

Be gentle.

Monday, November 28, 2011

Hypothyroidism and Down Syndrome

On the health check list every child with Down Syndrome should have in their medical record is yearly screening for thyroid disease.  People with Down Syndrome are at an increased risk of developing hypothyroidism.  Hypothyroidism is a common disorder that can affect all ages, and is found in 1 in 4000 people.  The incidence is higher for people with Down Syndrome.  Anywhere from 13 to 55 % of people with Down Syndrome will develop hypothyroidism over the course of their lifetime.  The good news is that hypothyroidism can be easily treated with medication.

What is a thyroid?

The thyroid is a small gland located below the skin and muscles at the front of the neck, just at the spot where a bow tie would rest. It's brownish red, with left and right halves (called lobes) that look like a butterfly's wings. It's light like a butterfly, too, and usually weighs less than an ounce.

As small as it is, though, the thyroid has an enormously important job to do, especially for teens. It manufactures the hormones that help control metabolism and growth. To do its job, the thyroid needs a chemical element called iodine that the body absorbs from the foods you eat and the water you drink. The entire body contains about 50 milligrams of iodine. About 1/5 to 1/3 of that supply (10 to 15 milligrams) is stored in your thyroid. The thyroid combines the iodine with tyrosine (an essential amino acid) to make important hormones.
Thyroid hormones are released from the gland and travel through the bloodstream to your body's cells. They help control the growth and the structure of bones, sexual development (puberty), and many other body functions. By helping your cells convert oxygen and calories into the energy they need to work properly, these hormones are important in determining if your body will mature as it should. Thyroid hormones also directly affect how most of your organs function. So if your thyroid isn't operating properly, you can have problems in lots of other parts of your body.
What is Hypothyroidism?
This is the state of not making enough thyroid hormone, and is the most common thyroid problem associated with DS. This can be present at birth (congenital) or may occur at any age (acquired). Every state in the US and many other countries routine screen all newborns for hypothyroidism. In newborns and infants with DS, the most common reason for hypothyroidism is that the thyroid did not form correctly in the fetus. In acquired hypothyroidism, the most common reasons in toddlers and older children with DS is (1) autoimmunity (where the body makes antibodies against its own thyroid) and (2) thyroiditis, where the thyroid tissue becomes replaced with white blood cells and fibrous tissue (Hashimoto thyroiditis).

The symptoms of low thyroid hormone are difficult to pick up, especially in infants. They include decreased growth, decreased development, an enlarged tongue, decreased muscle tone, dry skin and constipation -- all of which might be expected in an infant with DS. So, it is recommended that all infants with DS be checked at birth, 6 months of age, 1 year of age, and once a year thereafter for thyroid function, regardless of their growth.

As a parent, what should you do?

Talk to your pediatrician.  Take the health check list to your child's physician.  Get your child screened regularly for thyroid disease.

Be gentle.

Sunday, November 27, 2011

One more thought on Thankfulness.......

This is what t is all about..........  Family.

I can't wait until we take our family photo next month and Amy and Kelsey are in the picture too.

Be gentle.

We interrupt this blog.........

Yes, this is the right place........

Did a blog format update.  Please let me know what you think?

Be gentle.

Saturday, November 26, 2011

Saturday Smile

I wish the true colors were shown in this photo.  The gift of a rainbow.  Enjoy and smile.  Appreciate the seemingly small gifts we are given.

Be gentle.

Friday, November 25, 2011

The Post Turkey family walk.

Since we are all still recovering from the Thanksgivings Day feast food hangover, I want to share our family walk post sitting down together at the table and sharing our Thanks.

We took the dogs, bikes, walking shoes, jackets and headed out into the rainy afternoon.  It was so much fun.  Great memories........

Davey has the coolest bike.  

Be gentle.

Wednesday, November 23, 2011

Tuesday, November 22, 2011

Monday, November 21, 2011

Facts about the Human Genome Project

If you are the parent of a child who is diagnosed with a genetic disease you have never heard of, your initial response is anxiety, fear. And you are apt to wonder, "Where do I get information to help my child?"

Since 2003, many people have learned at least a smidgen about genetics and its relevance to disease and health in the volumes of information written about the Human Genome Project. If you haven't heard of it yet, don't worry. Here is some of the basic information that will be a major factor in health care in the 21st century.

Begun in 1990, the U.S. Human Genome Project was a 13-year effort by the U.S. Department of Energy and the National Institutes of Health. The project originally was planned to last 15 years, but advanced technology helped to accelerate the project so that the goals could be met two years sooner.

These project goals were:

Identify all the approximately 20,000-25,000 genes in human DNA

Determine the sequences of the 3 billion chemical base pairs that make up human DNA

Store this information in databases

Improve tools for data analysis

According to the government web page on the HGP......

What is the Human Genome Project?
Begun formally in 1990, the U.S. Human Genome Project was a 13-year effort coordinated by the U.S. Department of Energy and the National Institutes of Health. The project originally was planned to last 15 years, but rapid technological advances accelerated the completion date to 2003. Project goals
  • identify all the approximately 20,000-25,000 genes in human DNA,
  • determine the sequences of the 3 billion chemical base pairs that make up human DNA,
  • store this information in databases,
  • improve tools for data analysis,
  • transfer related technologies to the private sector, and
  • address the ethical, legal, and social issues (ELSI) that may arise from the project.
To help achieve these goals, researchers also studied the genetic makeup of several nonhuman organisms. These include the common human gut bacteriumEscherichia coli, the fruit fly, and the laboratory mouse.
A unique aspect of the U.S. Human Genome Project is that it was the first large scientific undertaking to address potential ELSI implications arising from project data.
Another important feature of the project was the federal government's long-standing dedication to the transfer of technology to the private sector. By licensing technologies to private companies and awarding grants for innovative research, the project catalyzed the multibillion-dollar U.S. biotechnology industry and fostered the development of new medical applications.
Landmark papers detailing sequence and analysis of the human genome were published in February 2001 and April 2003 issues of Nature and Science. See an index of these papers and learn more about the insights gained from them.

What's a genome? And why is it important?
  • genome is all the DNA in an organism, including its genes. Genes carry information for making all the proteins required by all organisms. These proteins determine, among other things, how the organism looks, how well its body metabolizes food or fights infection, and sometimes even how it behaves.
  • DNA is made up of four similar chemicals (called bases and abbreviated A, T, C, and G) that are repeated millions or billions of times throughout a genome. The human genome, for example, has 3 billion pairs of bases.
  • The particular order of As, Ts, Cs, and Gs is extremely important. The order underlies all of life's diversity, even dictating whether an organism is human or another species such as yeast, rice, or fruit fly, all of which have their own genomes and are themselves the focus of genome projects. Because all organisms are related through similarities in DNA sequences, insights gained from nonhuman genomes often lead to new knowledge about human biology.
Can this be helpful to us as parents of a child with Special Needs?  Only time will tell.

Be gentle.

Sunday, November 20, 2011

William is rocking the 6th grade

We are so proud of William.  We got an invitation to attend the awards ceremony at his school last Friday.  David, Veronika and I all got to see William receive this special honor.

Awesome job

David, William and Veronika


Be gentle.

Saturday, November 19, 2011

Happy National Adoption Day!

Welcome to National Adoption Day

National Adoption Day is a national day of celebration of adoptive families and an opportunity for courts to open their doors and finalize the adoptions of children from foster care. Since 2000, more than 35,000 children have had their adoptions finalized on National Adoption Day.
On November 19, 2011, families, adoption advocates, policymakers, judges and volunteers will come together and celebrate adoption in communities large and small all across the nation.
The One Day Project was created by the National Adoption Day Coalition to share with the thousands of waiting children what this one day is like, and what it means to find their forever family. Watch this video to see how this one day has changed actor Willie Garson’s life, and the lives of thousands of children waiting in foster care. Please consider sharing your story about what this one day is like and encourage others to consider adoption from foster care.

Background of National Adoption Day:
  • The success of National Adoption Day, which falls during National Adoption Awareness Month, belongs primarily to the parents who are so willing to open their hearts and homes to a child in need.
  • There is a network of caring and devoted people, such as adoption advocates, policymakers, judges and lawyers, who work diligently year-round to help bring children and parents together on this special day.
  • The coalition of national partners who sponsor National Adoption Day consists of: Freddie Mac Foundation, Dave Thomas Foundation for Adoption, Children's Action Network, The Congressional Coalition on Adoption Institute and The Alliance for Children's Rights.
Among those joining the National Adoption Day celebration is White Collar actor and 2011 National Adoption Day spokesperson, Willie Garson. He adopted his now 10-year-old son, Nathen, from Los Angeles County foster care in 2010. "While there has been an increase in the number of foster care adoptions over the last five years, there are still far too many children waiting in foster care for families to adopt them," Garson said. "National Adoption Day is about raising awareness of the significant need to find adoptive families for the many children in foster care."

Do you have room in your heart for just one more?

Be gentle.

Friday, November 18, 2011

Rudely Interrupted? Love music? Enjoy.....

Love music?  Check out the story about this group from Australia.

Band to rock disabilities preconceptions

18 Nov, 2011 12:01 AM
Rory Burnside is one of many hip young indie rock vocalists from Melbourne.The 24-year-old frontman of Rudely Interrupted is, however, not like other musos. And his band, which has played around the world, is not like other bands.
Born without eyes, the man with Asperger’s syndrome sings vocals in the band that comprises drummer Josh Hogan, 24, who has a chromosomal disorder, bassist Sam Beke, 27, who has Down syndrome, as does tambourinist Constance Kirkpatrick, 49, who is also legally blind. Marcus Stone, 32, plays synthesiser and also has Asperger’s and is partially deaf.
Burnside refuses to be defined by his disabilities.
The band’s message to the world, as Burnside puts it, is: ‘‘It’s not about the disability, it’s about the person, and the music.’’
Yesterday, the band was announced as the headline act for Queanbeyan’s Festival of Ability on December 1.
It will also perform at the National Disability Awards at Parliament House on Tuesday.
The Queanbeyan festival will mark the International Day of People with a Disability.
Burnside hoped the band’s performance in Queanbeyan would inspire the audience, especially other disabled people.
‘‘It’s about what they can do, not what they can’t do. Every Australian counts,’’ he said.
‘‘A lot of people don’t know anything about disabilities. They only see the negatives. There’s more than meets the eye.’’
Burnside said music had always been his life because his father, Jonathan Burnside, is a music producer.
‘‘I’ve got perfect pitch,’’ he said. ‘‘And we had a wide music program when I was at school.’’
Disabilities created challenges, ‘‘but we can overcome them and rock on’’.
‘‘We’re not all the same,’’ he said. ‘‘For example, I learn stuff quicker than anybody else. What may take me five minutes may take the other members half an hour. I seem to be critical when they do forget things.’’
The band’s biggest dream is pretty simple: ‘‘[To] continue to rock’’.

  • The Queanbeyan Festival of Ability is at Queanbeyan Park, Lowe Street, on December 1, from 4pm-7pm. It includes free activities and entertainment such as puppetry, the Queanbeyan Public School Signing Choir and zumba.

  • Be gentle.