New survey says life with Down syndrome is good; so why the high abortion rate?

We who love someone with Down syndrome know this. Life is good. Challenges abound, but the rewards are greater, and far outweigh the sacrifices. When I feel those soft little arms tight around my neck, I forget how long it takes her to get dressed, eat dinner, and walk into school. My heart melts and I am thankful God chose me to raise a child like Christina.
But the common perception is that the difficulties outpace the joys, or there wouldn't be between a 75-92% abortion rate.
Thank you Dr Brian Skotko, for compiling this data which proves that the public perception of life with Down syndrome is wrong. Now we who love these special people need to bring this survey out of hiding into the public eye, to help change hearts. To save lives. 

Leticia & Christina photo by Shana Sureck

Share this post  on Facebook and Twitter  by clicking the Share button on the bottom of the post. Discuss it at your next school meeting, coffee house visit, over the fence chat or TV spot. Write about it to the editor of your local newspaper, or call into radio shows discussing disabilities. Get the good news out, and we'll see fewer abortions of these lovely individuals who have so much to offer our society. 

BOSTON, Sept. 21, 2011 /PRNewswire via COMTEX/ -- Survey results may inform decisions about prenatal testing

Three related surveys led by a physician at Children's Hospital Boston suggest that the experience of Down syndrome is a positive one for most parents, siblings and people with Down syndrome themselves. The results, published in three reports in the October issue of the American Journal of Medical Genetics, may serve to inform expectant parents and clinicians providing prenatal care.

"New prenatal tests for Down syndrome are set to come out as early as the end of this year," says Brian Skotko, MD, MPP, a clinical fellow in genetics at Children's Hospital Boston. "Many more women will then learn about the diagnosis prenatally and will need to grapple with very personal pregnancy options. In previous surveys, mothers have reported receiving inaccurate, incomplete and occasionally offensive information about Down syndrome from their healthcare providers."

Skotko and collaborators Susan Levine, MA, CSW, of Family Resource Associates (Shrewsbury, NJ) and Richard Goldstein, MD, of the Department of Psychosocial Oncology and Palliative Care, Dana-Farber Cancer Institute, sent surveys to 4,924 households on the mailing lists of six nonprofit Down syndrome organizations around the country. The surveys asked respondents to rate their agreement with statements on a scale of 1-7, and also included some open-ended questions.

The first study evaluated surveys from 2,044 parents or guardians, representing an estimated response rate of 29 percent. Its findings:

99 percent of parent/guardians said they loved their child with Down syndrome

79 percent felt their outlook on life was more positive because of their child

5 percent felt embarrassed by their child

4 percent regretted having their child.

The second study evaluated responses to similar questions from 822 brothers and sisters age 9 and older (estimated response rate, 19 percent). Of the siblings age 12 and older:

94 percent expressed feelings of pride about their sibling

7 percent felt embarrassed by their sibling

4 percent would "trade their sibling in" for another

88 percent said they felt they were better people because of their sibling with Down syndrome

Of siblings aged 9-11:

97 percent said they loved their sibling

90 percent felt their friends are comfortable around their sibling

The third study evaluated survey responses from 284 people with Down syndrome (estimated response rate, 17 percent). The average age was 23, and 84 percent were living with one or both parents/guardians. The findings:

99 percent said they were happy with their lives

97 percent liked who they are

96 percent liked how they look

86 percent indicated they could make friends easily

4 percent expressed sadness about their life.

"As international discussion is mounting over the new prenatal tests, family members have now had their say about life with Down syndrome," says co-author Levine. "And, more importantly, the people with Down syndrome themselves have clearly stated that they consider their lives valuable."

In open-ended questions, parents reported learning a variety of life lessons - the top five being: personal self-growth, patience, acceptance/respect, love, joy. Asked what they would tell other prospective parents of a child with Down syndrome, the top responses fell into these categories:

You will experience joy/rewards

There will be struggles/challenges

You will experience love

Important to identify good support group/resources

Children with Down syndrome are more alike than different from typically developing children.

Siblings, asked what they would tell prospective parents having a child with Down syndrome, most often conveyed that the experience would be joyful and rewarding, though many also said there would be challenging moments.

Respondents with Down syndrome most often gave these kinds of messages for parents:

Love your baby/your baby loves you

Life is good/happy to be alive/positive

Don't worry/it's okay.

Their main messages for doctors were:

Life is good/I'm happy to be alive/positive

Please take care of our medical needs

Please give information to parents about school options for people with Down syndrome

Value us/we're okay.

The researchers acknowledge that the surveys are subject to selection bias, since members of nonprofit Down syndrome groups may not be representative of the general population of Down syndrome families; respondents were largely white and middle to upper class. There is currently no population-based registry for people with Down syndrome.

"Prenatal decisions about Down syndrome present profound and deeply personal challenges to expectant parents," says co-author Goldstein. "What has been missing has been the perspective of those living with Down syndrome. This study now provides the largest and most comprehensive portrait of life with Down syndrome to date."

The studies were supported by grants from the Tim White Foundation, the Fred Lovejoy House-staff Research and Education Fund, and the Joel and Barbara Alpert Endowment for the Children of the City.

Children's Hospital Boston is home to the world's largest research enterprise based at a pediatric medical center, where its discoveries have benefited both children and adults since 1869. More than 1,100 scientists, including nine members of the National Academy of Sciences, 11 members of the Institute of Medicine and nine members of the Howard Hughes Medical Institute comprise Children's research community. Founded as a 20-bed hospital for children, Children's Hospital Boston today is a 396 bed comprehensive center for pediatric and adolescent health care grounded in the values of excellence in patient care and sensitivity to the complex needs and diversity of children and families. Children's also is the primary pediatric teaching affiliate of Harvard Medical School. For more information about research and clinical innovation at Children's, visit: http://vectorblog.org .

CONTACT: Keri Stedman Children's Hospital Boston             617-919-3110      keri.stedman@childrens.harvard.edu

SOURCE Children's Hospital Boston

Copyright (C) 2011 PR Newswire. All rights reserved 

National Alzheimer's Project Act should include Down Syndrome

As some of you know, NAPA (National Alzheimer Project Act) was signed into law by President Obama in January 2011. The project is divided into 3 areas, research, clinical care, and long term care. NAPA does recognize that Alzheimer’s disease is more common in those with intellectual disabilities, but does not address the very close relationship between DS and AD. Congresswoman McMorris Rodgers would like to remedy that.
NAPA will be having a Teleconference Advisory Council Meeting tomorrow from 1 till 5 PM. The chairs from all 3 subcommittees (Research, Clinical Care, and Long term services) will be present.

I know of two people who will be speaking to the group. One is a sibling of a man who had DS and AD and has passed away. The other will be reading a letter from some in the DS research community (letter embargoed until the meeting). The gist of the comments are that NAPA has omitted Down Syndrome as a specific group with an exceptionally high risk of Alzheimer’s and that DS should be included, specifically, particularly under goal 1 of NAPA (research to prevent and effectively treat Alzheimer’s disease by 2025).

The public may attend the Teleconference by clicking this link.

HHS is seeking input on the draft plan through March 30, 2012. The Congresswoman is submitting a letter and I hope each of you will as well. Inclusion of DS, specifically, in the National Alzheimer’s Project Act will clearly benefit DS. It will most likely benefit others as well.

Karen L. Summar, MD, MS
Joseph P. Kennedy Foundation Public Policy Fellow
Office of Congresswoman Cathy McMorris Rodgers
2421 Rayburn House Office Building
Washington, DC 20515

My column at the Anchor

I wrote a response to a Catholic columnist at The Anchor, the Catholic newspaper for the Diocese of Anchorage on the topic of research for children with Down syndrome. Some parents feel that it says that their children are 'mistakes' or not acceptable, but I think its just the opposite. Research to help those with Down syndrome shows how much we value them and want to enrich their lives.
 I just came across it and realized I forgot to post it. I hope Sarah Palin had a chance to read it;
here's the link.

Upcoming talk at the Family Research Council

If you are in the Washington DC area, and would like to increase your awareness of the gifts offered by those with Down syndrome, please consider registering for a talk that I will be giving with Mark Bradford, Executive Vice President of the National Catholic Bioethics Center.
 We will address the new pre-natal test, MaterniT21 which is now available to expectant mothers and how it has the potential to eliminate people with Down syndrome from our society. Mr Bradford works with the Jerome Lejeune Foundation which supports promising research projects around the world seeking to improve the learning and memory of those with Down syndrome. 
We will share our personal testimonies as parents of children with Down syndrome, and why there's never been a better time in history to have a child with Down syndrome. 


Click here to register for the free event, held at the Family Research Council. 

World AIDS Day and Down syndrome; where is the cure?

One of my pet peeves was brought to mind by World AIDS Day. Not that I oppose finding a cure for HIV. 
I was a social worker when AIDS emerged in the eighties. I helped a young man with HIV who was kicked out of the loft in Greenwich Village which he had shared with his lover, and was now living miles from a payphone in the country where he slowly died of AIDS.No one was with him.  He covered his mouth in my office, and treated himself as a pariah, asking me to touch the doorknobs for him, since no one knew how AIDS was transmitted. My heart broke with compassion for him, abandoned to die alone. There was very little I could do besides make him comfortable and keep him company in 1985. 
In a little over three decades, we discovered AIDS existed, raised money for research, and found treatments. Now its effectively cured, if only we would admit that it is spread by immoral sexual activity, we could have it under control. I am happy for those who are benefiting. Too bad that young man is not among them. 


 In 1958 Dr Jerome Lejeune discovered trisomy 21, the cause of Down syndrome.  We should have rejoiced that a cure was now possible, and as with AIDS, banded together to raise funds. However, rather than joining him in his efforts to find a cure, which Dr Lejeune described as "taking less effort than sending a man to the moon" (which, by the way was done since T21 was discovered) the March of Dimes spent its millions developing a search-and-destroy methods of prenatal diagnosis, using Dr Lejeune's discovery to find unborn babies with Down syndrome. This led to an abortion rate of 92% for such babies. Some cure. Dr Lejeune watched this happen and dedicated his life to finding a cure, he said, 'I see only one way left to save them, and that is to cure them. The task is immense--but so is Hope."


Did we kill AIDS patients as a means to a cure?  
Or cancer patients?


 Dr Lejeune said, "Medicine becomes mad science when it attacks the patient instead of fighting the disease. We must always be on the patient's side, always."


Why was pre-natal diagnosis and abortion for nearly 50 years considered the end of the Down syndrome story? Sure, its a complicated disease, but so is HIV. I have to think that AIDS patients being movie stars like Rock Hudson had a lot to do with the dedication and  speed with which we found a cure. There are 2.7 million afflicted with HIV in the USA and nearly half a million who have trisomy 21, or 20% of that number. That is still a significant population, yet there were no huge TV specials, no ribbon on the White House, or until recently, no big Hollywood celebrities sponsoring efforts to raise money for Down syndrome research. Instead, researchers like Dr Alberto Costa have to give of their own money to search for a cure for his daughter's Down syndrome.
Like Dr Costa, I have a daughter with Down syndrome. She is no Hollywood celebrity, but don't try to tell her that. Her smile and her can-do attitude brighten her elementary school.  I volunteer full time to raise awareness of the inequity with which people with trisomy 21 are treated. No, not in education, thanks to the Americans with Disabilities Act, she can go to typical school right through college. But in research. 
And in the way it is considered standard medical practice that a woman expecting a child with Down syndrome gets no more than a phone number for an abortion clinic instead of information about how good life is for those with Down syndrome. Thanks to Dr Brian Skotko, whose new survey in the American Journal of Medical Genetics, brings out the fact that 99% of families are happy with their child with Down syndrome, and that the people with T21 are just as pleased with their liives. This is not what expectant women have been hearing. My friends have been told they were selfish for wanting to give birth to their child with Down syndrome, bringing misery upon themselves and their families. Its simply not true. And I am working through KIDS (Keep Infants with Down Syndrome) to change how the diagnosis is treated, especially since with the new diagnostic test, MaterniT21, the diagnosis will be offered more widely and earlier. Doctors will have results at 12 weeks instead of 22, giving women plenty of time to educate themselves about what life is really going to be like for their child with Down syndrome before making a decision to abort. 


I want people like Christina to find the compassion, resources,  and acceptance which is now offered to AIDS patients. Why shouldn't she be treated with equal dignity?
Things are changing. Three years ago, the National Institute of Health formulated a research plan to find a cure for the cognitive delays of Down syndrome, and is now forming a consortium of parents and researchers. The legacy of Dr Lejeune lives on in newly formed Lejeune USA which had a major meeting at the Neuroscience Convention last month in DC (more about that meeting in future posts). UC San Diego Down syndrome researcher Dr William Mobley said, "if you told me a decade ago, I would be discussing clinical trials for a drug to treat Down syndrome cognitive delays, with four laboratories, I would not have believed it". 
  I was heartened by the star-studded fundraiser "Be Beautiful, Be Yourself" offered by the Linda Crnic Institute for Down Syndrome in Washington last month at $500 a plate. Gladys Knight was there and so was my Congressman. We don't want people with Down syndrome to go away, but there is bright promise that within a decade, the significant delays in memory and learning which my daughter endures, may be, like AIDS, on the way to the dustbin of history.

Congressional Down Syndrome Caucus Webinar on this link

Here are the recordings of the Down syndrome conference yesterday on Capitol Hill hosted by the Congressional Down Syndrome Caucus.

http://www.ustream.tv/recorded/18108788
and
http://www.ustream.tv/recorded/18109283

Down syndrome achieves meets with Congressional members about NIH funding

This is a subject dear to my heart, obtaining fair funding for Down syndrome research.
There is an average of $100 spent for each person in this nation who has Down syndrome, while for other diseases like Cystic Fibrosis, its more like $4,000 according to the Alan Guttmacher institute.
But Down Syndrome Achieves met with our friend Cathy McMorris Rogers (R-WA) to discuss how this can be remedied.

DownSyndrome Achieves, D.C. Hill Visit

On July 26, DownSyndrome Achieves Founder & CEO, Lito Ramirez, and DSA Legislative Advocate, Dean Fadel, met with Congressional leaders to help revive stalled efforts to increase federal funding for DS research, which sits at just $19M today.
See more photos from these exclusive DSA closed-door meetings with key legislators, including Representatives Cathy McMorris-Rogers (co-chair, Congressional Down Syndrome Caucus), and Pat Tiberi (member, House Ways & Means Committee).

Against the backdrop of the debt ceiling crisis, DownSyndrome Achieves was there working with Congressional leaders to build a more meaningful and substantive national strategy for Down syndrome.

Webinar at noon today on Down syndrome-Alzheimer's Link

William Mobley leads the Down Syndrome Center for Research and Treatment at the University of California, San Diego.  The new center plans to integrate treatment and therapy with academic research on Down syndrome.  Since people with Down syndrome are at high risk for Alzheimer’s disease, the center will make the nexus between the two disorders a prime research focus.  Where can researchers in the Down syndrome area make headway, and perhaps advance the our understanding of Alzheimer's disease?
You can learn more by joining a live webinar on Wednesday, 1 June 2011, at 12:00 noon, U.S. Eastern time. In this webinar, Dr. Mobley will share his vision for the new center and discuss how the latest research sharpens researchers’ understanding of both diseases.

Please consider forwarding this information to friends and family who would be interested in this presentation.  Readers can sign up here to receive frequent updates on Down syndrome cognitive research.

Robert C. Schoen, Ph.D.
Research Down Syndrome
Chicago, Illinois

Phone: RDS 877.863.2121
Email: rschoen@researchds.org or info@researchds.org
Website: www.researchds.org

Link between cancerous cells and Trisomy 21 discovered

Researchers in Boston have uncovered a link between Down syndrome and cancer. People with Down syndrome are LESS likely to have cancerous tumors, and here's why;

The report also for the first time reveals that a molecular switch, an enzyme called DYRK1A, performs a crucial step in assembling the p130-DREAM complex, and thus is novel control point for quiescence and senescence. When DYRK1A is turned on, it acts through p130 to set in motion the assembly of DREAM, which turns off the growth genes and allows cells to depart the growth cycle and become quiescent or senescent.
DYRK1A's ability to turn off cell growth genes may also be involved in the lower-than-normal development of brain neurons in Down syndrome, say the scientists, who are investigating possible new avenues to treating the disorder.
While they tend to have cognitive losses, people with Down syndrome have a markedly lower risk of most types of cancer. DYRK1A is made by a gene on chromosome 21, which is present in three copies instead of the normal two in people with Down syndrome, causing the enzyme to be overproduced. DeCaprio said this abnormal activity could explain both outcomes: DYRKIA-triggered DREAM formation could help suppress cancers by driving them into senescence, and also reduce the generation of brain cells during development.

This discovery can help both the underdevelopment of neurons in the brain of those with Down syndrome, and the unchecked growth of cancerous cells.That's why while those with T21 have fewer brain cells, they also have fewer cancer cells. LIGHT BULB!!!
 It seems that a rising tide lifts all boats, if researchers had shown more interest in Down syndrome earlier we may have made greater strides in curing cancer. Instead, we considered pre-natal search-and-destroy to have 'solved' the 'problem' of Down syndrome, suppressing interest in such research for decades, except of course for that of Dr Jerome Lejeune.
Thanks be to God we are not accepting this any longer and are agressively pursuing knowledge over eugenics. Let us pray that a significant treatment for cognitive delays in Down syndrome will precede widespread use of new blood tests for Down syndrome, or it will be too late to save those we love from extinction.

Read the entire article here.

Thank you to those who help research Down syndrome

Thanks to the leadership of NJ Governor Christie's wife, Mary Pat Christie, by promoting "Light the Way" an initiative of Research Down Syndrome to call awareness to Down syndrome research projects in the USA, several "first spouses" of our nation's governor's lit their residences in blue on March 21, World Down syndrome Day. Because of efforts like this we have more funding for research to help people with Down syndrome develop their potential.
Here's a bit about Research Down syndrome:

Research Down Syndrome is a non-profit foundation that supports and funds Down syndrome cognitive research conducted at leading institutions that are studying the basis of the intellectual impairments associated with Down syndrome, including Johns Hopkins University, Stanford University, The University of Arizona, University of California, San Diego, and University of Colorado. Recent scientific advances have revolutionized this field of research, providing for the near term development of targeted medical therapies to treat the cognitive challenges associated with Down syndrome, improving memory, learning and communication, expanding and enhancing life opportunities, for people of all ages with Down syndrome. Research Down Syndrome is a legal corporate entity, and is a 501(c) (3) nonprofit organization designated by the Internal Revenue Code. For more information, please visit www.researchds.org, or contact RDS at info@researchds.org, or 877.863.2121.

Watch their amazing video on Down syndrome research here. 

This Saturday, I had the delight ordering decaffeinated Green Tea capsules for Christina from the health food store, knowing that research results in Spain had already proven their effectiveness.Thank you to the Jerome Lejeune Foundation for the first ever effective therapy for improving the cognition and learning. of people with  Down syndrome.

In France, Jean Delabar, a researcher at the CNRS in Paris, used another method consisting of acting directly on the Dyrk1A gene on chromosome 21. Because it exists in 3 copies, this gene functions excessively, so the aim was to diminish its activity, which Jean Delabar succeeded in doing by injecting a natural inhibitor in the mice, namely a molecule derived from green tea. In Barcelona, Pr. Mara Dierssen successfully carried out a pre-clinical trial with this molecule on ten adult patients aged 20 to 30. She is now preparing a clinical trial on 100 patients.

Read about the research with Green Tea in Barcelona at this link.
May this be only the beginning of a growing trend!

The National Institute of Health wants to know if you want Down syndrome research funding

The NIH has decided to gather info (Request for Information or RFI) regarding an interest in Ds research, data base and bio bank.  They want to receive responses by April 1, 2011, in order to decide if there is enough interest to move in that direction.  We feel this is clearly a move in the right direction and would love for you to send your email of support.  You can write your own or simply modify the wording in the first sentence....As a friend(uncle, relative, etc) of a child with Down syndrome who has five siblings, .....  

FYI, the majority of individuals with Ds start with Alzheimer-like symptoms in their 40s.  This will dramatically impact the entire family and there is currently a human clinical trial being conducted on just this topic.  Of course the majority of funding is through private donations, so to have the support of NIH in funding Ds research more fairly (currently Ds is the most common genetic chromosomal abnormality, yet it is funded by far the lowest) hopefully more breakthroughs will be found to improve cognition and delay the later loss.


 If you do write an email please send to:   dsrdrfi@mail.nih.gov and cc: nihresponse@globaldownsyndrome.org   with subject:  RESPONSE TO NIH DOWN SYNDROME RESEARCH DATABASE & BIOBANK RFI

Please pass along to anyone else who may be willing to send an email. 

Interview with Dr Jerome Lejeune's daughter

It was one of the greatest honors of my life to meet Clara Lejeune Gaymard, daughter and biographer of my great hero, Servant of God Dr Jerome Lejeune.Dr Lejeune is the father of modern genetics who discovered that the cause of Down syndrome was Trisomy 21, or three copies of the 21st chromosome. He spent his entire life dedicated to finding the cure for Trisomy 21 in order to save them from the tragic abortion rate of 92%. 

Mrs Lejeune Gaymard is an international businesswoman, travelling the world for GE while raising nine children. Her wonderful book "Life is a Blessing" is now availalble from the National Catholic Bioethics Center e-store.

Here is the interview at the National Catholic Register.

Why is Down syndrome research such a low priority at NIH?

Why is there so little funding for Down syndrome research at the National Institute of Health, when other diseases which affect far fewer people, given more money?
 Despite a growing grassroots movement of parents who reacted to the 2007 statement of the ACOG that ALL pregnant mothers be tested for Trisomy 21, getting active legislatively with the Kennedy Brownback bill, and starting blogs and support groups online, inspiring Rep Cathy McMorris Rogers to form the Congressional Down Syndrome Caucus, there is still minimal funding to improve the lives of our children.
Find out more, and become part of the solution.

Read more and register for the webinar here.

Good news on the Down syndrome research front

This is from Peter Elliot of the Down syndrome Research Foundation

• . There has been some very successful research in 2010 that you may not know about. The Optima Team at Oxford published the results of a 2 year RDB project that tested a medicine of folic acid+B12+B6 at a high dose rate to prevent the loss of brain tissue seen in patients with early onset dementia. After 2 years everyone on the medicine saw a benefit compared to those on the placebo. Adults with DS are at high risk of dementia and this happens much sooner. I have been talking to this research team and they have agreed to help design a medicine for our children and this will target a correction to the biochemistry caused by trisomy 21. The objective is a nutrition based medicine that prevents problems and allows more normal growth and development. We can now see the genes that are effected by Trisomy 21 so we can also see when they are being corrected. This is amazing technology. This research should be underway in 2011 and we will be needing parents who have a young child with DS and a near same age and same sex normal sibling to volunteer to donate small blood samples for this genetics and biochemistry research project. I need the names now so we know where you are and you can email me at dsrf_uk@yahoo.com. The project will be based in Europe but we have close ties and a collaboration with leading researchers in the USA. DSRF-USA is a new registered Non Profit in Texas and will be linked to DSRF-UK through our fundraising and website activity. Nothing happens until the parents get involved and I am just ONE parent. Now is the time for you to get involved. Information on this technology will be posted on our website next month. How is the DSRF-UK and the DSRF-USA different from all the other DS organizations? We are proactive and we seek out the best research, we dont have any paid employees and we dont assume someone is going to help our children and come knocking at our door. We find the best researchers and we ask for their help and we offer to help them. We Collaborate and support the programs that can find very safe medicines. Medical research to find the medicine that will help our children and transform their lives is our objective. Show your support and send a donation from our website and write to me and volunteer for research. A lot of work lies ahead but the researchers have agreed to help us. Now its your turn. Peter Elliott - Research Director - DSRF-UK / DSRF-US
•