As many of you know over the last year
there was a new DS prenatal screening test released and this was
combined with a recommendation from the American College of
Obstetricians and Gynecologists, for doctors to offer the new,
safer screening procedure to all pregnant women, regardless of
age.
Dear Friends and Family,
As many of you know, I contributed an essay to a book entitled
Gifts:
Mothers Reflect on How Children with Down Syndrome Enrich
Their Lives. The first edition of this book was released in
November, published by Booksurge and available only over the
internet. It was available for three weeks before a major
publisher picked up the option. The first edition is no
longer available.
The major publisher Woodbine House is releasing the second
edition this spring. Gifts can be ordered here (http://giftsds.segullah.org/
) by clicking on the "order now" option on the homepage.
Pre-ordered books will be shipped in mid-May and the book will
be in bookstores in June, earlier than the anticipated July
release date due to great demand. All royalties go towards
purchasing books for new parents.
I can not stress enough how amazing, and how important, this
book is. The book includes the essays of 63 contributors,
along with a forward by parenting guru Martha Sears, R.N.,
herself a mother of an adult son with Down syndrome. Beverly
Beckam of the Boston Globe comments that "Gifts is honest and
life affirming" while George Will of Newsweek remarks, "This
fine book helps dispel the fear and misinformation about Down
syndrome that many parents and prospective parents face."
When I received my copy, I greedily devoured every essay, and
found the experience amazing and uplifting.
As you know, Vincent & I learned of Gabriella's diagnosis
while I was pregnant. We were fortunate enough to have some
excellent mentors, Marie & Tom, parents of Keith whom we've
known for years, and Kathi and Chick, parents of Lizzie whom
we met after the diagnosis. Despite their excellent support,
the time period post-diagnosis in some ways was a scary,
uncertain time.
The Difficulties of Diagnosis
There are many people receiving a diagnosis of Down syndrome
who do not have the benefit of ever having known anyone with
Down syndrome. In addition, recent research for Harvard
Medical School by Dr. Brian Skotko has revealed that many
doctors are quite deficient in the way they deliver the news
of a diagnosis to parents. These doctors (though of course
not all) may deliver the news abruptly, may provide
inadequate, incorrect, or overly negative information, may
pressure a woman to terminate, or may be simply incapable of
providing hope to parents. (http://www.news.harvard.edu/gazette/2005/03.03/27-down.html)
This deficiency may be contributing in part to the estimated
85 to 90% termination rate for a prenatal diagnosis of Down
syndrome. To complicate matters, the American College of
Obstetricians and Gynecologists (ACOG), while ignoring the
deficiencies noted above, has issued new practice guidelines
for prenatal testing which will identify many more unborn
babies with Down syndrome. (http://www.acog.org/from_home/publications/press_releases/nr01-02-07-1.cfm)
In addition, there are new, non-invasive testing procedures on
the horizon which will provide a confirmed diagnosis of Down
syndrome much earlier in pregnancy. (http://www.newscientist.com/article/dn11095-noninvasive-downs-syndrome-test-shows-promise.html)
Sadly, many women face family, social, and medical pressure to
terminate.
The Advances for People with Down Syndrome
The issues concerning the way in which a diagnosis is
delivered come at a time when medical and social advances are
providing individuals with Down syndrome the opportunities to
lead healthier, happier, and more productive lives than at any
time in history. There have been advances in cardiology and
other surgical medicines which have drastically improved the
health of many individuals with Down syndrome. In addition,
automatic newborn screening for hypothyroidism and thyroid
medications, as well as automatic screening schedules for a
variety of issues, are working together to use "preventive
medicine" to help many individuals with Down syndrome.
Finally, parents and health care providers are utilizing a
growing and shared body of medical knowledge available through
the internet. My Gabriella, had she been born decades ago,
would have been severely mentally retarded and very ill due to
heart and thyroid issues, but today these issues have been
removed as obstacles due to modern surgery and simple
medication.
With the beginning of Early Intervention, as well as its
maturation over the past decades, young children are getting
the help they need in the crucial young years of brain
development. Therapists and parents alike are learning
methods that can help children start achieving their potential
early in life. With the development of local groups and
internet information exchanges, parents are able to discuss
the best techniques and strategies and often bring ideas to
the therapists. Sign language has emerged as a particularly
useful tool for our children, showing us that even as little
ones they have a voice even if it is not in the form we
expect.
With the protection of the law and the blossoming of
understanding, many children with Down syndrome are attending
school with their typical peers, benefiting from the
interaction and in turn exposing many to the humanity of a
child with Down syndrome. In adulthood, many people with Down
syndrome hold jobs, live independently and enjoy recreational
opportunities in their communities. People with Down syndrome
do face challenges, but with family and societal support can
lead fulfilling lives and many can give back to the
community. (For more information, link to the national
organizations:
http://www.ndsccenter.org/ or
http://www.ndss.org/ )
Solutions
Many individuals and organizations have worked to reduce the
difficulties of diagnosis. Some national organizations have
provided training materials to local groups, and many local
organizations have created outreach programs to train local
health care providers. In addition, using grant money from
the Kennedy Foundation, two organizations, the NDSC (National
Down Syndrome Congress) and the NDSS (National Down Syndrome
Society), are actively making plans to address the deficiency
in delivering the news of a diagnosis on a national level.
(http://www1.ndss.org/index.php?option=com_content&task=view&id=1895&Itemid=5
Plans are underway to address this situation at a governmental
level as well. Senator Sam Brownback (R., Kansas), Senator
Edward M. Kennedy (D.,Mass), and others have introduced a
bipartisan bill entitled "The Prenatally Diagnosed Conditions
Awareness Act" (S. 609, H.R. 1353), which aims to ensure that
patients receiving a positive test diagnosis for Down syndrome
(or other prenatally diagnosed conditions) have timely access
to scientifically sound information and adequate support
services. The bill was introduced in the House as well and is
currently in committee.
http://www.geneticalliance.org/ws_display.asp?filter=%7B1F2FE2CA%2D1CE7%2D4D60%2D8758%2DCD5C45AD0EAC%7D
(Genetic Alliance summary)
http://thomas.loc.gov/cgi-bin/query/z?c109:S.609 (the
actual bill)
The Gifts book provides newly diagnosed parents with
first-hand stories from other parents, most of whom once
feared a Down syndrome diagnosis. It provides that crucial
parental perspective so often missing when parents are
grappling with a diagnosis. It is honest, in some places
gut-wrenchingly honest, but provides that element of hope
parents desperately need. Gifts was the dream of two
visionary mothers of children with Down syndrome, who wished
to share with all newly diagnosed parents the feelings they
experienced in raising their children with Down syndrome,
providing the hope so often missing when physicians deliver a
diagnosis. Their voices were soon joined by other mothers'
voices, creating a chorus of voices celebrating the lives of
children with Down syndrome. The authors have backgrounds as
varied as those of the people of the nation, representing a
variety of ethnicities, religious beliefs or lack thereof, and
political beliefs, including both pro-life and pro-choice
women.
It is our goal to provide a copy of Gifts to every newly
diagnosed parent. The first step in doing so is to provide
complimentary copies to medical providers who deliver the
diagnosis to parents. At a national level, the NDSC will have
a presence at the ACOG convention in May, where they will have
the opportunity to provide information and literature to the
4,000 to 5,000 attendees. Thanks to a generous contribution
by Sandra McElwee, Gifts contributor, there will be 300 copies
of the Gifts book available to attendees.
At a local level, Virtua Health and the Southern New Jersey
Perinatal
Cooperative are jointly sponsoring a seminar at the end of May
for various local medical providers in Southern New Jersey
entitled "Emotionally Supporting the Family of a Newborn with
Down Syndrome." Medical professionals who have experienced
receiving a Down syndrome diagnosis are presenting the
seminar, which will include advice for compassionately
delivering the news to parents of a newborn and which will
cover prenatal screening. The BUDS (Bringing Up Down
Syndrome) group (http://www.bringingupdownsyndrome.org/)
has generously agreed to purchase 100 copies of the Gifts book
to provide complimentary copies to the attendees.
After learning of the situation facing newly diagnosed
families, if you desire to help in this endeavor, you may
donate money to either our local BUDS group or the national
group NDSC, with the check and cover letter earmarking your
donation to purchase Gifts books for the ACOG convention or
the local seminar. Many parents will benefit from this
generosity. I have drafted and included on the next pages two
alternative cover letters for your donation which you may find
easy to use and which will ensure that your contribution
supports this cause. (If you live in the local area it would
probably be better to support the local effort/ BUDS group and
outside the area the NDSC.) [message
from Chris: Let me know if you want a copy of these letters I
didn’t include them here]
Whether you simply pick up a copy of the Gifts book for your
own reading, or whether you take the additional step of
sending earmarked funds to BUDS or the NDSC, I thank you so
much for your support of newly diagnosed families.
