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Life with Down syndrome

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The memory from eight years ago is almost as vivid as if it had occurred only seconds ago.

My wife was in the recovery room at Penrose Community Hospital in Colorado Springs, having delivered our first child, a daughter who came early and under emergency conditions.

Behind drawn curtains in the crowded recovery room, we watched a video I had just shot of our baby in the neonatal intensive care unit when the doctor who performed the delivery nervously approached.

Standing just outside the curtain, the doctor changed our lives.

“We believe your baby has Down syndrome,” she said.

“I’m so sorry.”

The perfect baby we were expecting now was gone. We didn’t know much about Down syndrome but soon realized the world was looking at us and our baby differently.

Instead of congratulations, we were told, “I’m so sorry.” In place of flowers and balloons, the hospital sent a chaplain. We were given outdated material about the genetic condition and didn’t know what to expect next.

Still don’t.

Eight years later, Abigail Anna Meyer is a beautiful and lively second-grader who is popular, funny and fully included in her classroom. She is sometimes confounding, sometimes difficult, but show me an 8-year-old who is not. She is not the same as her peers or her younger sisters. She has medical issues, and learns and speaks differently. But she is just as her name means in Hebrew: her father’s joy.

My wife and I chose not to do prenatal testing. The invasive amniocentesis test involves sticking a long needle into the womb to remove a small amount of fluid to screen for a variety of birth defects. The test also carries a risk of miscarriage.

Today, a new test has been introduced that advocates believe marks a turning point for Down syndrome. Two months ago, the California-based company Sequenom introduced the first-ever noninvasive blood screen for Down syndrome in 20 cities, including Denver’s Presbyterian/St. Luke’s Medical Center. The company says the screen can be administered 10 weeks into pregnancy, is 99 percent accurate and costs $235 (with insurance).

Down syndrome, which has been a part of the human condition as long as babies have been born, is now at a crossroads.

Some believe the test will lead to a drastic reduction in the number of babies born with the genetic condition. This is happening at the same time as researchers believe drug therapies to treat some of the cognitive delays associated with Down syndrome are within their grasp.

Advocates worry fewer babies born with Down syndrome could mean less support for those living with the condition. Ultimately, that could mean less funding for research trying to help those who are here.

“I do feel like I am in a race against time,” said Michelle Whitten, executive director of the Global Down Syndrome Foundation, one of the leading fund-raisers for Down syndrome research.

Whitten — who is a friend and whose 8-year-old daughter has Down syndrome — worked with her parents, Anna and John J. Sie, to create the nation’s first medical and research institute for Down syndrome at the University of Colorado.

“Can organizations work fast enough to get the National Institute of Health​ funding to counterbalance what may happen as a result of this test?” she asked.

Studies estimate 92 percent of women who get a prenatal diagnosis of Down syndrome terminate their pregnancies. The new test is easier, can be done earlier and carries no risk of miscarriage. Now, only 2 percent of women test for Down syndrome with invasive tests. That percentage will surely rise.

Alberto Costa, an associate professor at the University of Colorado Denver School of Medicine, has been working for more than a decade on finding ways to improve cognition in people with Down syndrome. He also has a teenage daughter with the condition.

As Sequenom was introducing its test, Costa was finishing a clinical trial to determine whether a drug called memantine can help improve memory and cognition of young adults with Down syndrome. The results will be published early next year.

“The parent in me definitely feels sad,” he said about the new test that likely will lead to more abortions. “It shows the real value that society places on your child. All of a sudden she is not a person. She is a burden that we need to get rid of. But where does it stop? When you find out it’s a girl, or has blue eyes? There is a slippery slope. At some point things go out of control.”

Marcy Graham, senior director of investor relations at Sequenom, said their test is about providing information.

“This is the first widespread distribution of a DNA sequencing test. That does tend to make people nervous because they are not certain what it means,” Graham said. “It’s not intended to weed out a certain type of person. There are screening methodologies for a large number of diseases that are put in place to educate the parent. Ours is just a more safe method.”

Looking for information

Days after my daughter was born, my wife and I searched for accurate information about what our life would hold with a child with Down syndrome. One friend, trying to help, sent us a 1970s book about mongolism. I threw it away.

Our pediatrician scheduled a meeting with a mother and her adopted 3-year-old son who had Down syndrome. In the doctor’s office, I watched the child carefully, and immediately saw he wasn’t anything to fear. He was a little boy who wanted to play, climb on his mother’s lap and crawl into the cabinet below the sink like any toddler.

The world for people with Down syndrome has changed. In the past, children would be institutionalized. Now, they are raised with their families and go to school with their siblings. In 1983, the life expectancy for a person with Down syndrome was 25. Now it is 60. Today, people with Down syndrome go to college, act in shows like “Glee” and get married.

Such a powerful new tool to identify Down syndrome safely and so early in the pregnancy should be partnered with accurate and timely information for parents.

Down syndrome now is mostly a postnatal diagnosis. But it quickly will become a prenatal diagnosis.

“A collision is about to occur between the advent of new technology and absence of information,” said Brian Skotko, physician in the Down syndrome program at Children’s Hospital in Boston.

To fill the void, national Down syndrome groups and physicians have put together a booklet of information about the condition (find it at www.lettercase.org). And Whitten’s organization is working with Sequenom to provide accurate information at the time of diagnosis.

Mile High Down Syndrome Association is among several that have set up first-call support networks, where parents given a diagnosis can call a parent who already has a child with Down syndrome to find out what it’s like.

In October, the month that Sequenom introduced its test, Abigail was a model in a celebrity-studded fashion show in Denver that raises money for Whitten’s organization.

She joined other people with Down syndrome in the packed downtown auditorium, waving to the cheering crowd as she walked down the runway.

There was our baby — father’s joy. But I could barely see her through the tears in my eyes.

-Jeremy Meyer

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Down syndrome by the numbers

Last month, results were released from a six-year study of 2,044 families with children who have Down syndrome.

99% of parents said they love their child with Down syndrome

79% of parents said their outlook on life was more positive

94% of brothers and sisters said they are proud of their sibling with Down syndrome

99% of 284 people with Down syndrome said they were happy with their lives

97% of 284 people with Down syndrome said they liked who they were

Sources: 2011 Children’s Hospital Boston surveys

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Comments
  • comment avatar teresa January 7, 2012

    Our daughter Angela is 13 and has Down syndrome. I can’t imagine life without her. She is the youngest of four of our children, and has brought all the happiness and joy that all children do, and maybe more. I think one thing we have going for us is the fact that these children are mainstreamed and included in regular classrooms and activities. That didn’t happen in generations before. Kids in schools today are reaping the benefits of knowing and loving these kids and are if I do say so better off for it. The fear that might have been present before is being replaced with knowledge and understanding. Also, positive doctors are key. We found out prenatally that Angela would have Down syndrome. My doctor was very positive in how he told us. I had never known anyone with Down syndrome and was very fearful about the impact it would have on our family. We also leaned on our faith and family as well. When my doctor told me about the diagnosis, I asked him, “how am I going to do this?” He knew I had three other children at home age four and under. He said, “I have another patient who has other children and a little girl with Down syndrome, and she wouldn’t trade her for all the tea in China, she has a very positive attitude.” I made up my mind then to be positive about our child, which was difficult through the pregnancy. But when she arrived she was beautiful. She has helped me become a more positive person as well as just better in so many ways. She’s my heart.

  • comment avatar Lloyd Lewis January 7, 2012

    Excellent piece, Jeremy.

    As the parent of a little boy, 8, with Down syndrome, who is in an integrated second grade in a public elementary school, I feel truly blessed. My son Kennedy is a joy in my life, and is a happy, contented little boy who contributes to his family and to all who are involved in his life.

    As the President of the Arc Thriftstores, I am delighted to be around so many employees with intellectual and developmental disabilities who are also a source of joy and inspiration to their fellow employess, and similarly a source of joy to their families and friends.

    And as the President of the board of directors for the Mile High Down Syndome Association, I am proud to know so many parents and children and adults with Down syndrome whose own lives have been blessed by the presence of their wonderful children with Down syndrome and their experiences with their families and as contributing members of society.

    The technology described here is truly ahead of real understanding of individuals with Down syndrome. And biases and prejudices of the past are now out of keeping with what we know of the contributions and happiness of and created by people with Down syndome.

  • comment avatar KathyMom January 7, 2012

    So nice to read articles about Down Syndrome. My twin sisters were born with Downs in 1963 and how I wish we had had information about Downs then. They are doing fine at age 48 and live in a group home in Lincoln, NE. In fact, we just spent Thanksgiving weekend with them for four days! Both work in a sheltered workshop and make their own money. They care for themselves with supervision. My mother is very involved with their life and their care. Thank you for your article.

  • comment avatar Rick S January 7, 2012

    We had the same story with our son Noah (who just turned 1 year old!) We found out he was born with Down syndrome in the delivery room. The obgyn came in and her first her words were “I’m sorry.” Her 2nd ones were “I’m going to prescribe you some antidepressants.) We were very confused because we certainly weren’t ‘depressed.’ A little surprised, sure. But depressed, not at all!

    In fact after Noah was born we started a website called http://NoahsDad.com were we post a daily video to show the world that Down syndrome is ok. We are doing an online narrative of his life, minute by minute, day by day. Giving the world an inside look into what a family raising a child born with Down syndrome looks like. (Spoiler Alert: It’s not all that different 🙂

    Our hope is we could help put a dent into the awful abortion numbers that are out there.

    Here are two of our favorite resources on there you (or anyone else) may enjoy:

    1 —> http://noahsdad.com/down-syndrome (this is a good place for people to start as it helps people see what Down syndrome really is.)

    2. —-> http://noahsdad.com/new-parent-guide This new parent guide is another (for anyone as it helps people get facts, not fiction!)

    Thanks so much and we’d love to connect with you guys.

    -Noahs Dad

  • comment avatar Sherri B January 7, 2012

    I am a public school teacher in a classroom for high schoolers with severe needs. I have several students with Downs, and I love and treasure these kiddos! My issue with the article is that you fail to state the direct result of using this new test, and why there will be fewer children born with Downs: parents will use elective abortion to kill their Downs child in utero. If you had discovered that Abigail had Downs at 12 weeks gestation, would you choose to kill her? Now that you are involved in the world of children with Downs, can you imagine any of these children NOT being alive? This test will not reduce the number of Downs occurances; it will only reduce the number of children who have Downs being allowed to enter this beautiful, amazing world. Our diverse population is what makes this a beautiful, amazing world filled with educational opportunities, and you’re advocating a method with which to reduce that diversity. As a parent of a Downs child, shame on you!

  • comment avatar Gordon D January 7, 2012

    I can appreciate the philosophy of following through with ones offspring, and having good faith, and the benefits that it allows us as a society.

    There is another side to this story however. Life is full of hardship. Not everyone has been so blessed to be able to provide a fulfilling life for their children.

    It’s great when people are able to see the brighter side and maybe even sometimes live it… allow me to vaguely reference studies that have been done about stress and the parenting of children with ADHD and how parents of such children, according to studies, have very real health impacts due to the problems of their children.

    There is a sunny side, but let’s not be biased, eh? 😐

  • comment avatar Linda January 7, 2012

    Many of us have known that this test was coming for quite a while. One of the most painful parts about this, as Dr. Costa says, is that it is a very slippery slope. Most pregnancies terminated now are done so because of ignorance about Down syndrome. I don’t say ignorance in a hurtful way, it is just that couples usually don’t have the opportunity to get balanced information and opportunity to ask those difficult questions. They are fearful of the unknown and decide to terminate.

    Working in the Down syndrome field for over 25 years, there has been a big push to get the current and accurate information into the hands of couples who receive a prenatal diagnosis of Down syndrome. With the Sequenom DNA test now on the market, this effort is more crtiical now than ever before.

    My daughter with Down syndrome is 31-years-old, she hasn’t been on ‘Glee”, hasn’t been selected to be a model in a celebrity fashion show, has only attended a couple of college classes, but that does not make her life any less valuable. She is just like everyone else. She has hopes and dreams like we all do. She’s a great daughter, sister, niece and aunt. She has the most wonderful sense of humor. She’s a dedicated sales associate at a local clothing store. She is able to drive to work. And her dream is to get married someday.

    We must begin to think of this as a Civil Rights issue. What if there had been a test developed that allowed the termination of fetuses because they were African American? Or were Jewish? Or gay? Or would have Type 1 Diabetes? Although Sequenom insists their test is not intended to weed out a certain type of person, I truly feel that is what it will do. Do advocates need to begin work to get individuals with Down syndrome on the “endangered species” list so they would be protected?

    It’s very sad. They just want to live. They just want to love and be loved in return.

  • comment avatar Brad P. January 7, 2012

    Check the Vanderbilt study – shows lower divorce rates. Check the Skotko study – shows greater happiness. Your data may be biased towards your perceptions, Gordon. Reality is far from the common misperception. Are their stresses? Yes. Are they greater than for a typical child? In many cases, yes. But my current job is more stressful than my part time job in college as well, but the rewards are consummate with the stresses and efforts. I would say the same goes for my daughter with DS. These experiences that poke you in the eye as “abnormal” are not.

  • comment avatar DonnyBrock January 7, 2012

    “99% of parents said they love their child with Down syndrome”

    This statement makes me so sad for the kids of that 1% of parents who can’t even bring themselves to like their own kids, so much so that they readily admit it.

    My mother was the executive director of a DD agency, and I grew up among hundreds of Downs clients. They are often very positive people who see the joy in life that many of us has missed.

    I find it horrifying that hospital staff would apologize to the new parents. I had the testing done when I was pregnant, and put serious thought as to what I would do if any of the tests came back positive. Downs, I decided, was not a deal breaker. These kids prove that that would have been the right decision.

    This is a great story. Thank you.

  • comment avatar Dan B January 7, 2012

    My wife and I had some risk factors that caused the ob/gyn to suggest some testing. We went along with the gene testing and the specialized ultrasound, but drew the line at any risky test. We talked about it and decided that even if a test showed downs, it didn’t matter in the long run, this was our baby. I can see that the new test would be good in a case like ours, because it might help to be a little prepared ahead of time. Learning in the delivery room would be a kind of shock. Its insensitive and they shouldn’t say “I’m sorry”, but I’d give them a little leeway, they are just human beings and they know that every parent is praying for 10 fingers and toes and a perfect baby. As it turned out we have a baby with no issues, but I can’t imagine not loving him just as much if he had something to deal with. I really can’t understand anyone who can hold their child and not feel their grip all the way to the heart.

  • comment avatar James S January 7, 2012

    While this perspective on children with downs is heart warming and a wonderful view, it is very one sided and only discusses half of the story. Whether people like it or not reality is not so wonderful as there are many levels of severity of down syndrome. A number of these children will be unable to learn the skills necessary to handle even the most basic tasks on their own and will require supervision for the rest of their lives. This puts a significant strain on families even if they have the required resources (but many do not) as the average life expectancy for individuals with down syndrome is 55 years old. While parents do not love these children any less, the life long challenges put a daily strain on the whole family. This includes any siblings who end up being somewhat pushed to the side as all the attention is focused on their sibling with down syndrome. There are many people that are not educated on this topic and read this article only to walk away believing that all children with down syndrome can go on to do wonderful things and that anyone who terminates a potential child with down syndrome is a horrible person. The reality is that this type of testing in addition to working with a genetic counselor can help provide perspective parents with the information needed to make an informed decision that is right for their family and situation. This does not make them horrible people but rather responsible ones.

  • comment avatar Amy Smith January 7, 2012

    Given the sensitive nature of this procedure, and the fact that it is the first of what will be a long line of genetically-informed screening mechanisms, I would imagine that a thoughtful community such as the administration of P/SL, the municipality of the City of Englewood and the State of Colorado would chose to bring in a company that is 100% above-board and respected, not one that lied about their data to inflate their stock value, then escaped culpability because the sole plaintiff in the case died four weeks before her federal securities fraud trial was to begin. I am wondering who is overseeing this company. This test is not regulated or monitored by the FDA- is anyone tracking the outcomes of the women they counsel? How many false-negatives and false-positives are they delivering and how many actions are based on those results? Is anyone aware of the nature of the information this company provides to women they test? Obviously, if the data state that 99% of families that have a Down kiddo in house love their kids, that 99% of people WITH Down syndrome are happy, but 92% of the women who test positive abort, there is a disconnect in the information dissemination area there, IMO. I believe the 99% of people with Down syndrome are happy people statistic is the most significant number in the article. This is much more than a decision made by potential parents; there ARE other people involved as well. How about you ask a hundred people with Down syndrome what THEY think of this test? I think its eugenics, packaged up so it does not smell to 2012 sensibilities.
    I would like for Colorado Health and Human Services or the administrators at Presbyterian/Saint Lukes to answer my questions about oversight, please.

  • comment avatar Susan January 10, 2012

    Jeremy – thank you for sharing the story about your beautiful daughter. My brother in-law who is 48 has Downs. He was born in the early 1960s where there wasn’t a lot of information or support. My in-laws struggled to clearly define and make the best choices for him, but did put him in a school instead of institution. He lives at home, but pays rent. He is an avid Cowboys fan and has held a job for more than 25 years. When I was pregnant, my husband and I opted to not have the tests, knowing we would love our child no matter what and would fight for them.

  • comment avatar teresa January 12, 2012

    Prenatal testing is not done necessarily to decide whether or not one is going to love a child or not. It is done sometimes to save the life of the child. A birth defect like spinal bifeda is discovered through prenatal testing which can be corrected with surgery inutero.

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