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| The best thing that ever happened to me! | | |
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One Day in the Future, instead of saying;
"I'm so sorry",
The Doctors will instead say.......
"Congratulations! You have a little bundle of Smiles"
When we first found out our daughter would be born with Down Syndrome, I was shocked and scared. Scared for her future, and ours. I think now, it was mostly due to the negative views surrounding this well known, but little understood syndrome.
Every Dr., and nurse, and counselor said to us "I'm so sorry." Every pamphlet, and article stated all the worst case scenarios, and worst case complications associated with the syndrome. Everyone assumed we would not continue with the pregnancy and immediately tried to set up our appointment for termination, or adoption. We didn't even feel like we had a choice. And, we were not alone. With false numbers out there, and outdated medical views, it's impossible to tell what is reality, and what is just an opinion. Our world was turned upside down in an instant.
Almost everyone today has heard of Down Syndrome, but few people actually have much knowledge about it, or have been touched by someone who has it. That is actually changing, slowly, but surely changing. There have been so many advances in medicine and therapy that children born with this condition have such a great chance at a normal happy life, that it's not seen as a medical hindrance anymore. For so many years this has been almost a death sentence to be born with this condition, that people with Down Sydrome were cast away, hidden in back bedrooms, or locked up in institutions. This has made it so that not many people knew anyone with Down Syndrome, and it was considered a sad and scary thing. There are so many myths out there about the syndrome that the people who have it, aren't even seen as people anymore. And, quite frankly, that is a tragedy. To not ever be able to meet and appreciate all the wonderful, quirky, and simply magical characteristics some of these people have is such a shame. They bring so much to the world. Sometimes it's just the little things that make the difference. How lucky we are to be able to enjoy all the little wonderful things that people or kids with down syndrome can bring to us all.
If anyone reading this is ever faced with a decision to keep or not keep a baby with Down Syndrome, you are not alone. It's okay to believe in your baby!
You have no idea the joy they can bring to your life. Our daughter is the best thing that's ever happened to us.
In the U.S., Down syndrome is the least funded major genetic condition by
our National Institutes of Health despite being the most frequent
chromosomal disorder. Because of this, and because of lack of funding
from other government organizations, there is surprisingly little known
definitively about the condition.
The Global Down Syndrome Foundation is committed to funding medical and basic research that will provide answers to the many questions that remain.
Facts about Down syndrome: What is Down syndrome?
1. Down syndrome is named after the English doctor, John Langdon Down, who was the first to categorize the common features of people with the condition.
2. Dr. Jerome Lejeune discovered Down syndrome is a genetic disorder whereby a person has three copies of chromosome 21 instead of two.
- There are also very rare forms of Down syndrome (less than 6%)
called Translocation Down Syndrome or Mosaic Down Syndrome in which not
all of the chromosome is triplicated or not all cells of the body carry
the extra chromosome.
3. Down syndrome is the most frequently
occurring chromosomal disorder and the leading cause of intellectual and
developmental delay in the U.S. and in the world.
What is the cause of Down syndrome?
1. The cause of Down syndrome is unknown.
- In a process called non-disjunction, the two copies of chromosome 21
fail to separate during formation of the egg, resulting in an egg with
two copies of the chromosome. When this egg is fertilized, the resulting
baby ends up with three copies of chromosome 21 in each of its cells.
The cause of this non-disjunction remains unknown.
2. Down syndrome probability increases with advanced age in mothers. However, since younger women have more babies, 80% of newborns with Down syndrome in the US are born to mothers under 35 years old.
3. Down syndrome has nothing to do with
race, nationality, socioeconomic status, religion, or anything the
mother or father did during pregnancy.
4. There is NO correlation between incest and Down syndrome.
5. Between two and four percent of the
time, a person is born with Mosaic translocation Down syndrome (mDs)
whereby some but not all of the cells have an extra copy of the 21
st
chromosome and the other cells are not affected. Translocation happens
when a piece of chromosome 21 becomes attached to another chromosome
during cell division
.
In the case of hereditary Translocation Down syndrome (a rare one to
two percent of all people with Down syndrome), an extra chromosome 21 is
inherited from one of the parents.
What is the population of people with Down syndrome?
1. The Centers for Disease Control (CDC) in 2011 estimated the frequency of Down syndrome in the US is 1 in 691 live births (up from 1 in 1087 in 1990)
2. The estimate that 90% of pregnant
women in the U.S. who get a diagnosis of Down syndrome through
amniocentesis choose to terminate IS INACCURATE.
- This statistic is based on studies done that merged findings from the U.S., UK and Europe in the mid- to late 1990s. The numbers do not represent the attitudes of the US population then or today.
- A more targeted 2012 review of just United States data and
termination rates following a prenatal diagnosis for Down syndrome
estimates termination rates from 1995 – 2011 were about 67%.
3. Surprisingly, The population of people in the US with Down syndrome is currently unknown. What we do know is:
- 38% of Americans know someone with Down syndrome.
- Because of the increase of live births of people with Down syndrome
and the recent dramatic increase in their lifespan, over the next 20
years a significant increase in the population of people with Down
syndrome in the U.S. is expected.
- The population of people with Down syndrome in the U.S. has been
estimated to be over 400,000. However, this number is derived from
faulty assumptions – the total population from the 2000 US census, 281.4
million people, divided by the most current frequency of live births,
691 equaling 407,236. Unfortunately, this technique
takes no account of the gradual increase in frequency or the increase in
lifespan of people with Down syndrome. Thus, we don’t actually know how
many people with Down syndrome currently live in the U.S.4. Some
estimates put the worldwide population of people with Down syndrome at
more than 6 million. More research is needed to ascertain whether this
number is accurate.
What should you know about people with Down syndrome in the U.S.?
1. Today the average lifespan of a person with Down syndrome in the U.S. is approximately 60 years.
2. In the last several years, the average
IQ of a person with Down syndrome has increased. In people with Down
syndrome, 39.4% are in the mild intellectual disability range of 50-70,
and 1% in the borderline intellectual function range of 70-80 (average
IQ in the general population is 70-130).
3. People with Down syndrome have
physical and intellectual delays from birth but there is a wide variety
of abilities within the population that are impossible to predict ahead
of time.
4. By law, people with Down syndrome in the U.S. must be provided an appropriate and free public education
.
5. A growing number of people with Down syndrome live independently.
6. A small but growing number of people with Down syndrome are choosing to get married and live together.
How do medical issues and care affect people with Down syndrome?
1. People with Down syndrome are
significantly predisposed to certain medical conditions including
congenital heart defects, sleep apnea, and Alzheimer’s disease. There is
also evidence of an increased risk of celiac disease, autism,
childhood leukemia and seizures.
- Some research shows that people with Down syndrome who have certain
heart defects or childhood leukemia are more likely than their typical
counterparts to recover or recover quickly.
- More research is needed to assess actual frequency and recovery of such medical conditions in the Down syndrome population.
- Many of these medical conditions can be treated, and many people with Down syndrome will not have these medical conditions.
2.
It is rare for a person with Down syndrome to have a solid tumor cancer
or cardiovascular disease, including heart attack and stroke.
3. Although children and adults with Down syndrome may share some common features, they look more like their immediate family members than like each other.
- Common but not universal features include short stature, round face,
almond-shaped and up-slanting eyes. Such features are not medical
conditions.
4. Appropriate medical care for children
and adults with Down syndrome is very important. It can make a major
difference for that person’s physical and intellectual development.
- Doctors are not always trained to provide the best medical care for a
person with Down syndrome. To help, you can recommend or print out the Health Supervision for Children with Down Syndrome or Healthcare Management of Adults with Down Syndrome guidelines.
5. Early intervention for babies with
Down syndrome is very important. The appropriate physical and speech
therapies for the first five years can make a major difference for that
child’s physical and intellectual development.
How will a baby with Down syndrome affect one’s family?
It is understandable that parents are concerned about how a child
with Down syndrome will affect their family, including siblings. Every
family is unique and may deal with the idea of, or the birth of, a baby
with Down syndrome differently. Despite potential challenges, personal
accounts and studies show that many families that have a child with Down
syndrome are stable, successful and happy, and that siblings often have
increased tolerance, compassion and awareness. In fact, a major
study
on marriages and Down syndrome shows the divorce rate among parents of
children with Down syndrome is lower than the national average.
You are pregnant – What if your doctor offers a prenatal test to see if your baby has Down syndrome?
Global Down Syndrome Foundation together with the National Down
Syndrome Congress have created a pamphlet for pregnant women that
addresses questions related to prenatal testing for Down syndrome. Many
testing companies and doctor’s offices will be providing this pamphlet
at the point of diagnosis.
Please click here to access or download the free pamphlet.
What is the future for a person with Down syndrome in the U.S.?
Of
course, there is no way to know what the future holds for anyone. In
most ways, however, babies, children and adults with Down syndrome are
more like other people than not. Babies and children with Down syndrome
need all the same love and care as their typical peers. Most adults with
Down syndrome have the same aspirations and desires as a person who
does not have Down syndrome.
What we do know is that the future of people with Down syndrome in
the U.S. has dramatically improved over the last several decades and is
on an upward trajectory:
1. People with Down syndrome are no longer institutionalized, lifespan has more than doubled, and
mainstream Americans strongly believe in the human and civil rights for people with the condition.
2. Since the 1970s, public schools must, by law, provide a free and appropriate education to children with Down syndrome.
3. In the U.S. many people with Down
syndrome complete high school, more are going on to a postsecondary
education and a handful have even received graduate degrees.
4. Some people with Down syndrome live
independently or in an assisted independent arrangement, and a small but
growing number have a romantic relationship and even get married.
5. Many people with Down syndrome can work, volunteer and vote.
6. Actors such as
Chris Burke, who played Corky in
Life Goes On, and
Lauren Potter, who plays Becky Jackson on
Glee underscore the abilities of people with Down syndrome.
7.
Mainstream Americans strongly
support government programs that provide education and training for
people with Down syndrome, support their families and research into the
condition.
8.
Mainstream Americans believe that people in the U.S. are all better off if they help people with Down syndrome.
What are the hurdles?
There are several large hurdles to overcome before people with Down syndrome can enjoy the equality and future they deserve.
1. Medical communities in the U.S. have
not caught up with society’s positive view about people with Down
syndrome or the idea of
“new” Down syndrome.
2. Recent surveys in the U.S. of parents,
doctors, and medical students indicate that outdated and inaccurate
information about Down syndrome is being provided to pregnant women who
are prenatally diagnosed or at birth of their child.
- Despite 1980s legislation in the U.S. to the contrary, some doctors
still believe lifesaving procedures should be denied a person with Down
syndrome; in some countries individuals with Down syndrome are still
institutionalized.
3. There is a major lack of funding for
research benefitting people with Down syndrome, even compared to other
conditions and diseases.
- The funding for Down syndrome research at the National Institutes of Health (NIH) started a continual and precipitous decline in the year 2001 – as a result today Down syndrome is the least-funded major genetic condition in the U.S.;
- However, NIH’s National Institute of Childhood Health and Human
Development is now working hard to correct the disparity of funding for
people with Down syndrome and is taking the lead on educating other
institutes at NIH.
4. Without research funding, best
practices in terms of how people with Down syndrome learn in a classroom
cannot be studied nor tools created for teachers and parents.
6. Without research funding, the
frequency and recovery rates of heart conditions and other diseases in
people with Down syndrome cannot be properly estimated, nor can they be
properly ameliorated or cured.
7. Without research funding, studying
people with Down syndrome cannot help the tens of millions of Americans
who suffer from diseases that people with Down syndrome have in much
higher numbers.
Global Down Syndrome Foundation is working hard with the National Institute for Childhood Health and Human Development, the Down Syndrome Congressional Down Syndrome Caucus, the National Down Syndrome Congress, Research Down Syndrome
and others to ensure that the National Institutes of Health and other
Federal Government agencies provide a fair share of research funds to
help people with Down syndrome.
If you have any questions or comments, or would like to learn more
about the Global Down Syndrome Foundation please contact us at
info@globaldownsyndrome.org.
