Please take time to complete this survey about families with a child with Down syndrome

This is from Marcia Van Riper, a nursing professor at University of North Carolina School of Nursing

Update on Study about Adaptation and Resilience in Families of Children with Down Syndrome

During the past year, many of you were kind enough to take time out of your busy life to complete our online survey about adaptation and resilience in families of children withDown syndrome. In addition, many of you expressed interest in being interviewed. To date, almost 250 parents have completed the survey. As far as the interviews, I have conducted around 35 interviews, but plan to do many more now that the semester has ended here at the University of North Carolina School of Nursing were I teach.

The main reason I am emailing you today is to let you know that there is still time to complete the survey if you have not yet had time to do it (or if you started it, but did not find time to finish it). Also, if your partner or spouse has not yet had time to complete the survey, I hope you will encourage him or her to do so. Currently the majority of the parents who have completed the survey are mothers (190 mothers and 58 fathers). I believe it is very important to hear from both mothers and fathers, so again, I hope you will encourage your partner or spouse to complete the survey. In addition, you are welcome to share the links to the survey with other parents of children with Down syndrome. Currently, we have versions in English and Spanish. Soon we will have versions in Dutch, Italian, Japanese, Korean and Portuguese. Ultimately, my goal is to collect data from 2,000 to 3,000 parents of children with Down syndrome. Then, to make sure this information is shared in both the popular media and the literature health care professionals read. Your stories are very powerful stories, ones that will help change attitudes about life with Down syndrome, as well as lead to improved outcomes for individuals with Down syndrome and their families.

Here are the links –

English Version

Link for mothers: http://www.surveymonkey.com/s/3KBM795

Link for fathers: http://www.surveymonkey.com/s/3KBQN5M

Spanish Version

Enlace para mamas http://www.surveymonkey.com/s/ZJ6C3YT

Enlace para papáshttp://www.surveymonkey.com/s/93QXKQC

Thank you to all of you who have already completed the survey and/or been interviewed. I have been doing work with children with Down syndrome and their families for over 25 years, and truly you and your children have been my best teachers.

Best Wishes,

Marcia

Marcia Van Riper, PhD, RN

Associate Professor Chair Family Health Division

School of Nursing/Carolina Center for Genome Sciences

University of North Carolina at Chapel Hill, NC

CB #7460 Carrington Hall Chapel Hill, NC. 27599-7460

President, International Family Nursing Association

vanriper@email.unc.edu 919-966-4284

Kathy Ireland speaks up for Down syndrome research

Kudos to pro-life Kathy Ireland for calling attention to the fact that Down syndrome research is severely underfunded when compared to autism.
She said, after her niece Polly was born with Down syndrome. and she attended a World Down Syndrome Congress in Washington.

When I watch the Special Olympics, it's a richer experience than any other competition. You are cheering for each and every competitor. Isn't that a beautiful experience? Each one carries the flag of our greatest common denominator -- our humanity. 

Every person with Down syndrome in those races is giving it his or her all. So why are we running out on them? You and I can't slow down in our national effort to help them. We are in a race to help those with DS. We must run side by side with them, assuring them that the Down syndrome funding cuts, which the National Institutes of Health has faced, are reversed now. 

Read the entire article here.

Dr William Mobley to speak on Long Island, March 23

On Monday, March 23rd, we will be hosting a Down syndrome event at the world-renowned Cold Spring Harbor Labs. We chose this date to honor World Down Syndrome Day, which is celebrated on March 21st (no need to explain the significance of the date, I’m sure) and we chose this venue because we hope to attract local physicians and legislators as well. The National Down Syndrome Society and ACDS will be co-sponsoring the lecture and it will be included in NDSS’ new educational series. The laboratories will also extend an invitation to their scientists and researchers.

Our speaker for the evening will be Dr. William Mobley, of Stanford University. Dr. Mobley is currently doing research that could lead to treatments to improve cognition and memory in individuals of any age with Down syndrome. The results of the preliminary research are incredibly promising and exciting. The mapping of the human genome has opened up a whole new world of opportunities in the field of Down syndrome research and we hope to share this world with all of you and with our physicians. For more detailed information on this research you can visit www.dsrtf.org/research-current.htm.

Most families of individuals with Down syndrome would agree that it is time we bring some more attention to the research that can help our loved ones. This is a unique opportunity for you to learn about current research and at the same time show your support for our community.

Grace Auditorium at CSHL can seat up to 353 individuals and we hope to fill every seat. Help us show our representatives that our children are here on Long Island and that they have a voice. We urge all of you to save this date and to attend with anyone you know who has been touched by your child. This is a free lecture and no organization will be soliciting donations.

You may want to invite your child’s teachers and/or therapists and we hope that you will invite your own OBGYN and children’s doctors. Please also share the invite with your SEPTA. We promise that you will leave with new hope and that any professional working with a child with Down syndrome with leave with a new view of our children’s potential. Please print and share the attached invite with your child’s doctors and providers as soon as possible. We thank you in advance for your support and interest in this event.

Down Syndrome Coalition of Long Island

National Institute of Health has a plan for Down syndrome research

This is a major victory. If there is no plan for research, the only remedy for Trisomy 21 is prevention; AKA abortion. It took the efforts of many parent advocates coupled with the leadership of the Congressional Down syndrome Caucus, and Rep Cathy McMorris-Rogers, mother of Cole, to bring the NIH to forming a plan to research therapies for treatment of Trisomy 21. Amen!
Read about it here.

An opportunity to influence genetic counseling sessions

DEPARTMENT OF HEALTH & HUMAN SERVICES Public Health Service
Dear Parents and Caregivers,
You are invited to participate in a study conducted by researchers at the National Institutes of
Health and the Johns Hopkins University.
Why is this study being done?
To learn more about how caregivers adjust to having a child with Down syndrome (DS). We are
interested in hearing from caregivers who may be learning to adjust and also from caregivers
who feel well-adjusted.

Who can participate in this study?
You must be 18 years of age or older and must be the primary caregiver for a child with DS.
Please fill out only one survey per household.
What is involved in this study?
There is one survey that takes approximately 20-30 minutes to complete. It asks about your
thoughts and feelings about your experience as a caregiver to your child.
What are the risks of the study?
There are no known risks of taking part in this study. If taking the survey makes you feel upset,
you can stop taking the survey at any time. If it causes you to become upset or worried about
yourself or your child, you can also contact the researchers (see below) and they will help direct
you to the appropriate resources.
Are there benefits to taking part in the study?
You will not personally receive any benefits from taking part in this study. We hope to learn
more about how caregivers adjust to having a child with DS and pass that understanding on to
help caregivers in the future.
Do I have to participate?
No, you do not have to take part in this study if you do not want to. Your decision to take the
survey will not have an affect on your child’s healthcare. If you begin the survey, you can
choose to skip any question that you don’t want to answer. You can also stop taking the survey
at any time. If you finish the survey and then change your mind, we will not be able to delete it
since the surveys are all anonymous.

Social and Behavioral Research Branch
National Human Genome Research Institute
National Institutes of Health
31 Center Drive (B1B36) – MSC 2073
Bethesda, MD 20892
(301) 443-2595-phone (301) 480-3108-fax

Who else will know that I am in the study?
We do not ask for your name or contact information on this survey. If you provide us with your
name by calling or writing to us, we will not link your name with your responses. This study
will not be part of any medical record. When we report our research results, it will be done with
no identifiable information from individual participants.
How do I participate?
The survey can be found online at www.downsyndromesurvey.com.
If you prefer to complete a paper version of the survey, please contact Megan Truitt at (301) 443-2595 or mtruitt@mail.nih.gov to receive the survey and a pre-addressed and stamped return envelope.
Any contact information you give to the researchers in order to mail the survey will be
immediately destroyed after it is mailed. Also, if you are more comfortable completing the
survey over the phone, please contact Megan Truitt (see contact information above) to arrange a
time to do so.
Thank you for your interest and time! If you are taking this survey online, please print a copy of
this consent form so that you have the researchers’ contact information.Also, after the study is complete, we plan on giving out a short summary of the results through
the recruitment sources as a way of saying thanks for participating. If interested, please check
the Kennedy Krieger Institute website below for the study summary:

www.kennedykrieger.org/kki_cp.jsp?pid=1399
Megan Truitt Barbara Biesecker
Associate Investigator, JHU/NHGRI Primary Investigator, JHU/NHGRI
Genetic Counseling Training Program Genetic Counseling Training Program
(301) 443-2595 (301) 496-3979
mtruitt@mail.nih.gov
barbarab@mail.nih.gov

Possible cure for cancer comes from Down syndrome research

When Gabbi and I went to Dr. Roger Reeves' lecture on his groundbreaking research on Down syndrome last month in New York University, we were thrilled to hear that since people with an extra 21st chromosome don't get many types of cancerous tumors, research for treatments for Down syndrome may also lead to cures for certain types of cancer. Read more here.
Dr Reeves has a grant from the National Cancer Institute in addition to his grants from the Down Syndrome Research and Treatment Foundation. Since he is also finding links to Alzheimer's Disease and the 21st chromosome, there may be grant money forthcoming from the AARP! As Dr. Reeve's wryly quipped, "Looking at the age of Senators, you can see why there so much NIH funding for Alzheimer's!"
Not long ago, parents who were expecting children with Trisomy 21 were given abortion as their only option. No one was interested in doing research for a cure, since the death of Dr. Lejeune in 1996. But, thanks be to God, parents like me found that unacceptable; no one was going to say our children had lives unworthy of life, and there was a cure out there, according to Dr. Lejeune, and we are going to push until the funding of the NIH for Trisomy 21 research(only 17 million) matches what is spent on Autism (127 million). And, according to Amy Harmon of the New York Times, we are reviving interest in research for our children.
There is nothing like a mother's or father's love for their child.

Down Syndrome Research and Treatment Foundation Winter Newsletter

So much promising research to improve learning and memory has taken place inside of Christina's lifetime, as noted in this newsletter. They are working with mice who have Down syndrome to see where the problems are in the nerve connections in the brain which lead to memory problems, and developing drugs that can help fix the problem. People with Down syndrome have a tendency to develop Alzheimer's so much of the research may also benefit those with the disease, increases the chances that funding will be received.
This news is so hopeful. I remember, around the time Christina was born, when the big news was the 10 week ultrasound nuchal fold screening, so babies could be diagnosed with Trisomy 21 earlier, and aborted. The idea in the medical community was: we gave you a chance to abort, if you didn't take it, tough, we're not interested in a cure for Down syndrome.
Thanks be to God who inspires these scientists to find a cure for our children!

National Institute of Health develops plan for Down Syndrome

The National Institutes of Health has developed a research plan to advance understanding of Down syndrome and speed development of new treatments for the condition, the most frequent genetic cause of mild to moderate mental retardation and associated medical problems. The plan sets research goals for the next 10 years that build upon earlier research advances fostered by the NIH.
"Through the years, the NIH research effort has led to increased understanding of Down syndrome," said Elias Zerhouni, M.D., director of the National Institutes of Health. "We are now poised to capitalize on these advances and improve the health of people with Down syndrome."
Down syndrome occurs in 1 out of every 800 births in the United States. Down syndrome most frequently results from an extra copy of chromosome 21 in the body's cells. In most cases, this extra chromosome comes from the mother. In some cases, forms of Down syndrome can result from just having an extra portion of chromosome 21. The chance of giving birth to a baby with Down syndrome increases as women age.
Infants with Down syndrome have certain characteristic physical features, such as short stature, distinctive facial features and are more likely to have health conditions like hearing loss, heart malformations, hypertension, digestive problems, and vision disorders. Although Down syndrome is the most common cause of mild to moderate intellectual disability, the condition occasionally is severe. People with Down syndrome are also much more likely to die from infections if left untreated.
The NIH's National Institute of Child Health and Human Development convened a working group of NIH scientists. Through a public comment process, the scientists listened to comments and suggestions from families of individuals with Down Syndrome, as well as from Down Syndrome research advocacy organizations. The NIH scientists then developed the research plan in collaboration with researchers in the national scientific community.
Among the research objectives identified as priorities over the next 10 years is the need for greater access to laboratory animals with the characteristics of Down syndrome.
The plan cites the need for increased research on the medical, cognitive, and behavioral conditions that occur in people with Down syndrome. These conditions include leukemia, heart disease, sleep apnea, seizure disorders, stomach disorders and mental health problems.
The working group also identified the need to study whether aging has a greater impact on mental processes in people with Down syndrome than in people who do not have Down syndrome. As adults, individuals with Down syndrome age prematurely and may experience dementia, memory loss or impaired judgment similar to that experienced by Alzheimer's disease patients.
The plan summarizes current research efforts by the various NIH institutes studying Down syndrome.
The National Institute of Child and Human Development (NICHD) has supported Down syndrome research since the institute was established in the 1960s. NICHD scientists have bred mice that help researchers study the intellectual disability and dementia that occurs in Down syndrome. The NICHD is currently studying specific genes and gene groups that may play a role in developing Down syndrome. Researchers are also studying the role that the age of the mother's egg plays in developing the disorder.
An NICHD-sponsored study is examining whether individuals with an additional complete copy of chromosome 21 differ as they age from people with only a portion of the extra chromosome. Another long-term study will examine the prevalence of dementia in adults with Down syndrome and whether certain medications, like hormone replacement therapy, slow the aging process in Down syndrome.
Other NICHD-supported projects include devising a weight loss program for adults with developmental disabilities, and a computer program to help children with Down syndrome learn.
The National Heart, Lung, and Blood Institute (NHLBI) is supporting studies of the genes that contribute to heart malformations found in Down syndrome patients. The NHLBI also is supporting investigations of the causes and potential treatments for obstructive sleep apnea, a disorder in which throat tissue blocks the airway during sleep, temporarily shutting off air to the lungs. Obstructive sleep apnea is common in Down syndrome children.
Children with Down syndrome are 10 to 15 times more likely than other children to develop leukemia. The National Cancer Institute is investigating various types of leukemia that affect children with Down syndrome.
Other NIH institutes continue to investigate additional aspects of Down syndrome. The National Institute on Aging is conducting research on ways to treat Alzheimer's disease in people with Down syndrome.
The National Institute of Allergy and Infectious Diseases is studying the significance of two genes recently found in a region of chromosome 21. These genes are involved in the development of the immune response against disease.
The National Institute of Mental Health is investigating rates and possible treatments for mental disorders found with Down syndrome. These include autism, obsessive-compulsive disorder, depression, and psychosis.
The National Institute of Neurological Disorders and Stroke (NINDS) is investigating how the brain is affected by Down syndrome. The intellectual disability seen in people with Down syndrome is caused when neurons die or do not function properly. One NINDS study is investigating the potential role of a specific gene called APP, for amyloid precursor protein. It is thought that disruption of the APP gene may kill neurons by interfering with a growth factor needed for neurons to survive. APP is believed to be related to Alzheimer's disease and may play a role in Down syndrome.
The research plan on Down syndrome "is intended to provide the NIH, and its member Institutes and Centers, with guidelines for prioritizing and coordinating future research related to Down syndrome," wrote the members of the NIH Down syndrome working group in the report.
The working group is moving forward to implement plan objectives. The plan's short- term objectives are expected to be accomplished within the next three years.
The report is available on the NICHD Web site at http://www.nichd.nih.gov/publications/pubs/upload/NIH_Downsyndrome_plan.pdf
The NICHD sponsors research on development, before and after birth; maternal, child, and family health; reproductive biology and population issues; and medical rehabilitation. For more information, visit the Institute's Web site at http://www.nichd.nih.gov/.
The National Institutes of Health (NIH) — The Nation's Medical Research Agency — includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. It is the primary federal agency for conducting and supporting basic, clinical and translational medical research, and it investigates the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov/

Would you like to participate in research regarding opinion about disabilities?

The following is an invitation I received to participate in a research project regarding public opinion and disabilities. Every time I can influence public opinion positively about disabled people, I try to participate. I have already participated in phase one of Mr. Cimini's project, and found him to be fair and as sensitive as possible.Click on the email link to ask further questions about the research, and, please, let me know if you are participating by leaving a comment below.
Leticia

The Politics of Heredity, Disability & Reproduction
Welcome
You are invited to participate in an ESRC funded research project that examines attitudes towards 'The Politics of Heredity, Disability and Reproduction'. The research will explore how differing attitudes towards this topic may reach a shared understanding. It also seeks to investigate what are the potential obstacles, biases and potentialities of associated 'stakeholder' groups. A report will be produced based on the findings and I would be happy to share these findings with you prior to any publications.

What does the research involve?

Approximately 30 - 40 key stakeholders have been invited to take part in a group discussion online - including a number of medical researchers, scientists and associated experts, alongside individuals who are associated with the disabled people's movement and others who have expressed an interest in these questions. The group discussion is geared towards gathering a shared meaning of the issues at stake.

If you agree to take part, you will be given secure access to a "research wiki" where you will be encouraged to write, edit and discuss group statements, encyclopaedia articles and joint letters, amongst other such texts. I am interested in all sorts of contributions: long or short, factual, descriptive or fun. No-one other than participants in this research will have access to your contributions.

How can I take part?

Taking part is easy. If you don't already have a password email me and I will grant you access. From here, you will be free to browse the content of the wiki and edit whatever you choose.

Please help promote this wiki and forward a link to anyone who you think may be interested.

I am looking forward to continuing contacts.

Nicholas Cimini
Doctoral Student
School of Health and Related Research (ScHARR) & The Bakhtin Centre
University of Sheffield


What are the potential risks of taking part?

The research will address issues that are potentially sensitive. If you participate you may be confronted with ideas that are considered upsetting or offensive to some people. The research will involve discussing topics such as disablement, prenatal screening and abortion. Participants are urged to act in good faith and be kind. You will find the contact details of various support groups, by following a link given on the project homepage, should you need to get in touch with anyone to discuss the issues raised during the research process.


What are the potential benefits of taking part?

Technological innovations often move forward more quickly than public understanding and consensus. The research will help to find ways to engage the public and professionals in debates over new technologies. It will help us to understand the impediments faced by stakeholders, the opportunities open to them, and the potential for a general consensus in the politics of heredity and reproduction.

Will my taking part be kept confidential?

Whatever you chose to contribute will be treated with confidentiality in any report or publications arising from the research and identifying information will not be made available to anyone outside of the group. All participants are urged to observe these same principles of confidentiality and not disclose each others personal information beyond the group.

Is there a cure out there for Down syndrome?

Last week, I would have told you, "it's a genetic anomaly, in every cell of the person's body, and there's no way you can cure that". Now, as I do some research into the work of the man who discovered the cause of Down syndrome, Dr. Jerome Lejeune, I was heartened by something he said before he died in 1994, "to find a cure for Down syndrome would take less effort than sending a man to the moon."
His deepest regret was not finding that cure before he died, but here's the good news; his Foundation in France, Fondacion Lejeune, has all his documentation, and his research continues there, and in other locations, like Stanford. There is also some work trying to cure the side effects of having an extra chromosome, like those discussed here using Ginkgo Gil boa.
So, families who have children with Down syndrome, take heart, there is research out there, and our job is to get them funding. The Michael Fund was established for precisely that. Help get the word out that the March of Dimes has focused it's research into search and destroy pre-natal diagnoses, to 'cure' Down syndrome, while the public thinks they are helping babies with birth defects, in effect they are eliminating the babies with Down syndrome. And as the NY Times video suggests, the fewer people with Down syndrome out there, the less interest in finding a cure.
I will post updates on finding a cure, as I find them. Please feel free to send me links.