All Good Things Must Come to an End

October and Down syndrome Awareness month may be ending tonight, but that doesn't mean we have to stop celebrating our children and what having an extra chromosome means to us and our loved ones. I know most of us spend the entire year shouting out loud "I LOVE SOMEONE WITH DOWN SYNDROME".

So, here is what I challenge.... if ACOG wants to recommend prenatal testing, let them. However it is up to us, the parents of a chromosomally enhanced child, to spread the word and educate the general population on how wonderful our children are. Let's stop the option of "one week to terminate" and instead show how inspiring our children are to everyone. We don't need one month to shout out awareness. We should do it all year long. Our children don't have Ds only in the month of October, do they? Well, no........ At least mine doesn't. LOL!!

All month long, every month, shout out "MY KID HAS MORE CHROMOSOMES THAN YOURS" or wear something yellow and blue everyday to show your awareness to help educate the world. The 90% termination rate has got to be lowered before our children are put on the endangered species list.

Halloween 2007

If Dr. Suess Had a Special Child

by Mary Beth Northrup

Dear Mom-I-am, dear Mom-I-am, we have a problem, Mom-I-am.
Your son won't do what he must do. He drives me crazy, yes it's true!
He will stall and squirm and hum, and leave all of his work undone.
He dreams and will not pay attention, have you considered medication?

With other kids he does not play, he is alone much of the day.
Something does not seem quite right, because I know he must be bright.
He seems to learn, despite the rest, but the work is not his best.
He is disruptive, yes it's true. He just won't do what he must do!

Yes, teacher, I can really see, how frustrating all this must be,
A child who does not meet the norm, a child whose mold won't fit the form.
I've had him tested on WISC-III, by your approved test agency.
He scores far higher than the mean, there's more to this that can be seen.

So help us, help us find the way, to teach this child best if we may.
He is not like the rest you see, he acts and thinks far differently.
We need another way to teach him, another way to finally reach him.
Not the normal thing you do, but something altogether new!

What! Something new - go bar the door! We've not done it that way before!
If we do this thing for you, then all the rest will want it too!
Change our ways, that can't be done. Same for all, not changed for some.
All children are gifted, yes it's true! Just MAKE him do what he must do!

Please, please, teacher, hear me through. The laws say you must help us, too.
His needs are different than the rest, we CAN help him to do his best.
We can make this easy too, it will not be more work for you.
This can work out, you will see. Try it, try it, please, for me?

All right, all right, if I must. I still maintain this is not just.
But first there is red tape you see, tests and checks and IEP.
And after weeks and months of proving, finally we can begin moving.
Then I'll try it and we'll see, if this method is the key.

Hey, I see something, yes I do! We have found something he will do!
No more fiddle, squirm and hum, no more worksheets left undone.
He's zipping through, he's learning fast, he's doing his best work at last.
Why did I put up a fight? I guess dear Mom, that you were right.

The Beatitudes of the Exceptional Child

Blessed are you who take time to listen to difficult speech for you help us to know that if we persevere we can be understood.
Blessed are you who walk with us in public places and ignore the stares of strangers for in your companionship we find havens of relaxation.
Blessed are you who never bid us to "hurry up" and more blessed you who do not snatch our tasks from our hands to do them for us, for often we need time more than help.
Blessed are you who stand beside us as we enter new and untried ventures for our failures will be outweighed by the times when we surpise ourselves and you.
Blessed are you who ask for our help for our greatest need is to be needed.
Blessed are you who help us with the graciousness of Christ Who did not bruise the reed and quench the flax for often we need help we cannot ask for.
Blessed are you when by all these things you assure us that the thing that make us individuals is not in our peculiar muscles, not in our wounded nervous system, not in our difficulties in learning but in the God-given self which no infirmity can confine.

by Andre Masse C.S.E.
Published in National Apostolate for Inclusion Ministry - Summer 1998

Barnes and Noble

Message born of 'hopes, dreams'
By Ryan Holeywell, USA TODAY

Steve Riggio's daughter Melissa is a senior in high school who works at the YMCA, sings in the school chorus and is a member of the swim team. She's just like millions of students nationwide, and that's exactly what Riggio wants others to understand.
Melissa, 18, has Down syndrome, and her father, the CEO of book retailer Barnes & Noble, has helped launch a campaign aimed to show the public that people with the disorder aren't that unusual and can lead normal lives.

"We're trying to show young children … that individuals with Down syndrome are more alike than they are different," he says. "They have the same interests … the same hopes and dreams."

Down syndrome occurs when a child is born with three copies of the 21st chromosome instead of two, which alters the course of development. People with Down syndrome have varying degrees of mental retardation, generally from mild to moderate, the National Down Syndrome Society says.

Down syndrome occurs in one in 733 live births. More than 350,000 people in the USA have it.

More than 500 Barnes & Noble stores have scheduled events in February and March for children ages 6 to 8. The Lincoln Triangle store in New York hosted a reading Monday of a children's book about Down syndrome; a talk from Melissa; a singalong with Bob McGrath, one of the original hosts of Sesame Street; and a performance by British singer/songwriter Rachel Fuller, who has recorded two songs featuring lyrics written by Melissa.

Fuller is working on turning Melissa's lyrics into a third song, which she says might include a guitar solo from her partner, The Who's Pete Townshend. Fuller says Melissa is one of the best lyricists she has ever worked with.

Melissa's lyrics "blew my mind," Fuller says. "They're deep, they're inspired and incredibly moving."

Melissa says she hopes to inspire others who have Down syndrome while promoting acceptance of people who have the disorder.

"I want people to understand the things I can do and not focus on the things I can't," she says.

Riggio says he encourages parents of people with Down syndrome to try not to impose limitations on them.

"They can achieve a lot more than anyone would have thought 20 or 30 years ago," he says. "And there's more to come."

Day 31 - To Capture Our Hearts

A kind gentle smile is seen on the face.
As these young people run a differet race.
No records are set, but they'll do their best,
And in their own way, they'll pass the test.
They may not look just like you or me,
But let's not judge by the outward we see.
Let's take a good look at the person inside.
What would we see, if we really tried?
They have no guile; they're honest and true.
A waif like innocence, is what shows through.
At times their words may seem without tact,
But there's a sensitivity, which many of us lack.
Although through ignorance, we react with alarm,
They can cast a spell with their child-like charm.
They were given no choice as to their lot in life,
And in some families it's caused plenty of strife.
To other's they're a gift, on loan from above.
If we open our hearts, we'll share in God's love.
It's true that Down Syndrome has set them apart,
But God gives them grace to capture our hearts.
c.2000 by Jerry Ham

Day 30 - Where Angels Tread

By Leah Lawrence

In the darkness of the evening
When my soul is growing tired
And I search within my aching heart

To find the face of God

I search but do not find Him
In the comfort of my bed;
But sense Him as He hovers near
My sleeping baby's head.

His presence is most strong there
Though no boundaries He knows,
My precious child He favors,
Her innocence it glows.

And the light that shines within her

He, Himself cannot deny
For it breaks through all the darkness
And brightens up the sky

Oh yes, He watches over her
Above her little bed
And in dreams my baby wanders
Golden streets where angels tread.

Day 30 - Special Angel

As beautiful angels wings were
flying over the streets of gold,
the baby angels could only
watch since they weren't very old.

Then one day God stopped to
talk to a little one without wings,
He said, "your day has come.......
just listen to the angels sing".

Confused yet excited the little
one said to the Lord,
"But I'm different from the others
God and not a miracle to behold".

"Oh, but yes you are," He said
with a hug and smile on his face.
"You're the greatest gift I can give
and a loving home you will grace".

You mean, tho I'm different and
will never be beautiful or smart
Someone will want me and give
me a place in their heart?"

"Gee God.....that person must be
special to be glad to have me,
Cause most folks would frown
and upset they would be."

God said, "your little heart was
filled with more love than most.
Cause I knew this family would
love you and hold you real close.

So go my little angel and take
the greatest gift I can bestow.
You're that "special" angel few
people have the honor to know."
by Sandy Eakle

Day 29 - Take A Walk in My Shoes

by Susan Drumright


I am a kid with Down syndrome. It is not something I would choose.
I'd like you to know me better. Would you take a walk in my shoes?

Down syndrome affects my body from my muscles to my brain.
But I'm more like you than I'm not. Come with me and I'll explain.

Let's take a walk together and you can see things through my eyes.
Look we both have Nikes on and we even wear the same size!

As we walk listen carefully, I'll be teaching you about me.
Together we can have some fun, but your help will be the key.

Be patient as I am talking. I often get tongue-tied.
If you can wait long enough, you'll see we're the same inside.

In school I'm often frustrated, learning stuff that's new.
Learning isn't as easy for me as it seems to be for you.

So if you see that I'm in trouble and I need a little clue.
Try drawing me a picture or showing me what to do.

Don't worry if I tell you, "No thanks, I don't want a hand."
I like to do things for myself. My motto is: "I CAN!"

But you can always help me by cheering for my success.
Just like I'll cheer for you when you score a goal or ace a test.

Smiles, hugs, pats-on-the-back...they all make me grin.
I'll give back all these things to you, multiplied by ten.

My world is full of fun things, like movies, pizzas, swings.
It's great to have a friend to share in what each day brings.

Thank you for walking in my shoes. I wanted you to see.
I really need a friend like you who likes me just as me.

Kids Who Are Different

Here’s to the kids who are different
The kids who don’t always get A’s
The kids who have ears
Twice the size of their peers
And noses that go on for days…
Here’s to the kids who are different
The kids they call dumb
The kids who don’t fit
With the guts and the grit
Who dance to a different drum…
Here’s to the kids who are different
The kids with a mischievous streak
For when they have grown
As history’s shown
It’s the difference that makes them unique.

by Digby Wolfe

Did You Know That

-a baby born with Down syndrome today can expect to lead a rewarding and rich life, often not that different from a baby not having Down syndrome
-an overwhelming majority of parents and siblings find living with a family member who has Down syndrome a very positive experience
-including a person with an intellectual disability in the work force has a positive effect on overall employee moral
-the overall quality of life of a person with Down syndrome has improved greatly over the last few decades, due to social inclusion, improved healthcare, etc.
-people with Down syndrome are less likely to develop a range of cancers
further research into the ‘why’ might hold important clues for cancer and other health research
-the future of someone cannot be determined by knowing only the genes he/she carries
health, or disease, depends largely on environmental factors
-more research into the role of environmental factors will lead to a healthier population for everyone
-Down syndrome is usually the result of an extra copy of all or part the 21st chromosome, it is not a gene mutation
-with today’s know how in genetic science, a much better understanding and treatment of Down syndrome is feasible
-many very promising treatments (medical and therapeutical) that could help persons with Down syndrome lead even healthier, fuller and productive lives, are placed on the shelf because of disproportionally poor funding compared to other intellectual disabilities
-a negative correlation exists between money available for treatments and policies in prenatal screening
-many parents receive biased, incomplete information and counseling, if they receive any, after receiving a prenatal diagnosis
-who counsels a woman after a prenatal diagnosis, influences her decision making
-expanded screening programs have not been accompanied by an appropriate expansion of awareness, information and education programs
-freedom of choice can only be guaranteed if you have enough, non-directive information to understand the consequences of your choice
-over 90% of parents faced with a prenatal diagnosis of Down syndrome choose to terminate the pregnancy
-the right not to know is often challenged by medical society
-decisions about implementation of genetic screening programs that affect us all, are made by a very small group of experts without consulting people living with the condition, advocacy or patient groups
-in the near future many more screening tests and even ‘home screening kits’ will become available and there is no (or lack of) regulation in place
-people with genetic differences will experience growing challenges to get extended healthcare, financial hardship and a growing stigmatization
-inclusion of people with (genetic) differences makes a society vibrant, caring and diverse

Helping Kids Understand Down syndrome

You have probably seen people who have Down syndrome. They have certain physical features, such as a flatter face, upward slanting eyes, and a somewhat larger tongue. They may have medical problems, too, such as heart defects. And they usually have some mental retardation, which means they may have trouble learning. But despite their challenges, kids with Down syndrome can go to regular schools, make friends, enjoy life, and get jobs when they're older.

To understand why Down syndrome happens, you need to understand a little about chromosomes. What's a chromosome? They are thread-like structures within each cell and are made up of genes. Genes provide the information that determines everything about people, from hair color to whether they are girls or boys.

Most people have 23 pairs of chromosomes, for a total of 46. But a baby with Down syndrome has an extra chromosome (47 instead of 46) or one chromosome has an extra part. This extra genetic material causes problems with the way their bodies develop.

Health Problems Are Common
Babies with Down syndrome tend to develop more slowly than other babies do. They may start walking later than other babies. About half are born with heart defects, which means there is something different with the way their hearts developed. Usually, these problems can be corrected by surgery.

Some babies also may have problems in their stomachs or a blockage in their intestines that prevents them from digesting food properly. Kids with Down syndrome are more likely to get infections that affect their lungs and breathing. When they do get infections, they often last longer. They may have eye or ear problems or digestion problems like constipation. Some may develop leukemia, a type of cancer. Each person with Down syndrome is different and may have one, several, or all of these problems.

We've mentioned a little about the features people with Down syndrome often have. In addition to the eyes and face, they may have small or misshapen ears, a large space between the big toe and the second toe, and a crease that goes across the palms of their hands. It's important to note, though, that not all people with Down syndrome look alike or have all these features.

Do a Lot of People Have Down Syndrome?
About one out of every 800 babies born has Down syndrome, no matter what race or nationality the parents are. It is not contagious, so you can't catch it from someone else. You are born with it. No one gets Down syndrome later in life.

Now you know that Down syndrome is caused by a problem with a chromosome. You might already know that we get our chromosomes from our mother and father. Remember the 23 pairs of chromosomes - half are from your mom and half are from your dad.

But doctors aren't sure why this chromosome problem happens to some babies. It's nothing the mom or dad did before the child was born. Anyone can have a baby with Down syndrome. But the older the mother, the greater the risk.

Is There a Cure?
At one time, most kids with Down syndrome did not live past childhood. Many would often become sick from infections. Others would die from their heart problems or other problems they had at birth. Today, most of these health problems can be treated and most kids who have it will grow into adulthood.

Medicines can help with infections and surgery can correct heart, stomach, and intestinal problems. If the person gets leukemia, there are medical treatments that can be very successful. Someone with Down syndrome has a good chance of living to be 50 years old or more.

But there is no cure for Down syndrome. It is something a person will have all of his or her life. But scientists continue to do research in the hope of finding ways to prevent Down syndrome or at least improve the health and lives of people who have it.

What's Life Like for Kids With Down Syndrome?
Many kids with Down syndrome go to regular schools and may attend regular classes. Some need special classes to help them in areas where they have more trouble learning. Their parents work with teachers and others to come up with a plan for the best way for each child to learn. Kids with Down syndrome like their playtime, too. They play sports and participate in activities, such as music lessons or dance classes.

Because they look different, some kids may tease or bully kids who have Down syndrome. But these kids have feelings just like anybody else. When they get teased, it hurts their feelings. They want to be accepted and have friends. If you know someone with Down syndrome, you can be a big help by not teasing him or her. Instead, offer a helping hand and a friendly word of encouragement.

You might wonder what kids with Down syndrome do after they graduate from high school. They often go to work. You may have seen a person with Down syndrome on the job - maybe helping in an office, a grocery store, or restaurant. In fact, they are known for their enthusiasm, reliability, and dedication. For all their hard work, they can feel a sense of accomplishment - and enjoy spending their paychecks!

Day 27 - The Race Towards Normal

by Debbie Chandler, Amarillo, TX
(reprinted from the NDSC Newsletter Volume 23, Number 6)


I try so hard to be with the leader of the pack.
I push and strain to be in the group
That is behind the pack.
The feeling of being one of them urges me on.
All my problems of being different would go away.
I’d be one of them. I’d be like them.
We would laugh together and party together.
There would be no more tauntings and certainly
Not any more whispering behind my back.
The feeling of oneness would block out the past.
“You’re not different,” I say to myself.
“I’m like everyone else,” I say to myself.
The gap widens. Fatigue slows me down.
Stopping to rest, I look ahead at the group in the distance.
I realize I am alone. Alone but unique.

Day 26 - The Extra Within

by Jenny Marrs

Each cell has an extra chromosome, so they say,
And all they can see is "There will be a delay."
A delay in development, "He won't walk before two."
A delay in his speech, "His words will be few."
A delay in cognition, "Will he read, will he write?"
The future predicted was not very bright.

He's proven them wrong about all of these things,
But that pales in comparison to the message he brings.
As an infant he had such an aura of love,
The warmth from his heart had to be from above.

His Granny once told us "I'm mysteriously drawn,
to a love, and a warmth, which is coming from John."
And who was he seeing in that spot in his room?
When he was laughing and cooing—I can only assume:

Was he talking with angels, were they causing his joy?
Were they already guiding this small baby boy?
Did they fill him with compassion and give him the gift
Of intuitively knowing when one needs a lift?

I've seen him so often just enter a room
Bringing sunshine and happiness, where before there was gloom.
His heart is wide open. He's genuine. He's true.
He has a charm and a sweetness which escapes very few.

A stranger once said "Children all lose their wings,
At about seven they move on to more worldly things."
He said that my child has a much greater plan,
He'd be keeping his wings and that he's touched by God's hand.

He's still learning and growing, but he's closer than most
To achieving God's perfection, yet it's him we diagnose.
Is it we who are lacking that one chromosome
And the enlightenment which leads us to our heavenly home?

John's working so hard to learn all worldly things,
He reads and he writes, he loves school, and he sings.
He's speaking quite well, yet still a man of few words
Because only in silence can God's voice be heard.
So sit at his feet, and listen if you dare
For this little child has such wisdom to share.

The Down syndrome Glossary

Acute: Of abrupt onset, in reference to a disease. Acute often also connotes an illness that is of short duration, rapidly progressive, and in need of urgent care.

Alzheimer's disease: See: Alzheimer disease.

Analysis: A psychology term for processes used to gain understanding of complex emotional or behavioral issues.

Atresia: Absence of a normal opening or failure of a structure to be tubular.

Birth defect: Any defect present in a baby at birth, irrespective of whether the defect is caused by a genetic factor or by prenatal events that are not genetic.

Bridge: A set of one or more false teeth supported by a metal framework, used to replace one or more missing teeth.

Childhood: (1) The time for a boy or girl from birth until he or she is an adult. (2) The more circumscribed period of time from infancy to the onset of puberty .

Chromosome: A visible carrier of the genetic information.

Chromosomes: The microscopically visible carriers of the genetic material. They are composed of deoxyribonucleic acid (DNA) and proteins and, under a microscope, look like little rods.

Clinical: 1. Having to do with the examination and treatment of patients. 2. Applicable to patients. A laboratory test may be of clinical value (of use to patients).

Condition: The term "condition" has a number of biomedical meanings including the following:

An unhealthy state, such as in "this is a progressive condition."
A state of fitness, such as "getting into condition."
Something that is essential to the occurrence of something else; essentially a "precondition."
As a verb: to cause a change in something so that a response that was previously associated with a certain stimulus becomes associated with another stimulus; to condition a person, as in behavioral conditioning.

Congenital: Present at birth. A condition that is congenital is one that is present at birth. There are numerous uses of "congenital" in medicine. There are, for example, congenital abnormalities.

Dementia : Significant loss of intellectual abilities such as memory capacity, severe enough to interfere with social or occupational functioning.

Developmental delay: Behind schedule in reaching milestones of early childhood development.

Diagnosis: 1 The nature of a disease ; the identification of an illness. 2 A conclusion or decision reached by diagnosis. The diagnosis is rabies . 3 The identification of any problem. The diagnosis was a plugged IV.

Disease: Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the rubella (German measles) virus.

Down syndrome : A common chromosome disorder due to an extra chromosome number 21 (trisomy 21). Down syndrome causes mental retardation, a characteristic face, and multiple malformations. Down syndrome is a relatively common birth defect. The chromosome abnormality affects both the physical and intellectual development of the individual.

Duodenal: Pertaining to the duodenum, part of the small intestine. As in duodenal ulcer or duodenal biliary drainage.

Ear: The hearing organ. There are three sections of the ear, according to the anatomy textbooks. They are the outer ear (the part we see along the sides of our head behind the temples), the middle ear, and the inner ear. But in terms of function, the ear has four parts: those three and the brain. Hearing thus involves all parts of the ear as well as the auditory cortex of the brain. The external ear helps concentrate the vibrations of air on the ear drum and make it vibrate. These vibrations are transmitted by a chain of little bones in the middle ear to the inner ear. There they stimulate the fibers of the auditory nerve to transmit impulses to the brain.

Epicanthal fold: A fold of skin that comes down across the inner angle (canthus) of the eye. The epicanthal fold is more common in children with Down syndrome and other birth defects than normal children and so is of value in diagnosis. Although some dictionaries state that this eye fold is found in peoples of Asian origin, this is not true. The normal Asian eyefold is continuous with the lower edge of the upper eyelid and actually appears distinctly different than a true epicanthal fold.

Eye: The organ of sight. The eye has a number of components. These components include but are not limited to the cornea, iris, pupil, lens, retina, macula, optic nerve, choroid and vitreous.

Family: 1. A group of individuals related by blood or marriage or by a feeling of closeness. 2. A biological classification of related plants or animals that is a division below the order and above the genus. 3. A group of genes related in structure and in function that descended from an ancestral gene. 4. A group of gene products similarly related in structure and function and of shared genetic descent. 5. Parents and their children. The most fundamental social group in humans.

Heart: The muscle that pumps blood received from veins into arteries throughout the body. It is positioned in the chest behind the sternum (breastbone; in front of the trachea, esophagus, and aorta; and above the diaphragm muscle that separates the chest and abdominal cavities. The normal heart is about the size of a closed fist, and weighs about 10.5 ounces. It is cone-shaped, with the point of the cone pointing down to the left. Two-thirds of the heart lies in the left side of the chest with the balance in the right chest.

Heritable: Capable of being transmitted from parent to child.

Iris: The iris is the circular, colored curtain of the eye. Its opening forms the pupil. The iris helps regulate the amount of light that enters the eye.

Leukemia : Cancer of the blood cells. The growth and development of the blood cells are abnormal. Strictly speaking, leukemia should refer only to cancer of the white blood cells (the leukocytes) but in practice it can apply to malignancy of any cellular element in the blood or bone marrow, as in red cell leukemia (erythroleukemia).

Megacolon: An abnormally enlarged colon.

Mental retardation: A term used when a person has certain limitations in mental functioning and in skills such as communicating, taking care of him or herself, and social skills. These limitations will cause a child to learn and develop more slowly than a typical child. Children with mental retardation may take longer to learn to speak, walk, and take care of their personal needs such as dressing or eating. They are likely to have trouble learning in school. They will learn, but it will take them longer. There may be some things they cannot learn. As many as 3 out of every 100 people have mental retardation. In fact, 1 out of every 10 children who need special education has some form of mental retardation.

Microscope: An optical instrument that augments the power of the eye to see small objects. The name microscope was coined by Johannes Faber (1574-1629) who in 1628 borrowed from the Greek to combined micro-, small with skopein, to view. Although the first microscopes were simple microscopes, most (if not all) optical microscopes today are compound microscopes.

Mongolism: Obsolete name for Down syndrome .
See the entire definition of Mongolism

Nasal: Having to do with the nose. Nasal drops are intended for the nose, not (for example) the eyes. The word "nasal" came from the Latin "nasus" meaning the nose or snout.

Nose: The external midline projection from the face.

Obstruction: Blockage of a passageway. See, for example: Airway obstruction; Intestinal obstruction.

Palate: The roof of the mouth. The front portion is bony (hard palate), and the back portion is muscular (soft palate).

Race: An ethnic stock or division of humans. Naturalists and ethnographers have long divided humans into a variable number of distinct races. However, DNA and other genetic studies have revealed that that most genetic variation, about 94%, is within so-called racial groups while these racial groupings differ from one another only in about 6% of their genes. This means that there is greater genetic variation within racial groups than between them. The concept of race is a superficial and subjective one. All of humankind is a single species.

Senility: 1. Originally, old age. 2. The physical decline associated with old age. 3. The mental decline once associated with old age but now known to be due to dementia , as for instance Alzheimer's disease and atherosclerosis. "The road to senility is paved with plaques." (Paul F. Wehrle, MD [1921-2004] pediatrician and vaccine researcher who helped eradicate smallpox)

Skin: The skin is the body's outer covering. It protects us against heat and light, injury, and infection. It regulates body temperature and stores water, fat, and vitamin D. Weighing about 6 pounds, the skin is the body's largest organ. It is made up of two main layers; the outer epidermis and the inner dermis.

Syndrome: A set of signs and symptoms that tend to occur together and which reflect the presence of a particular disease or an increased chance of developing a particular disease.

Trisomy: The presence of three copies of a chromosome rather than the normal two. The most common trisomies in newborns are trisomy 13 ( Patau syndrome ), trisomy 18 syndrome ( Edwards syndrome ) and trisomy 21 ( Down syndrome ). The most common trisomy among spontaneous abortions is trisomy 16

Day 26 - Welcome to Holland Via Bosnia

When my plane landed, the flight attendant, instead of saying "Welcome to Holland", said "The plane has been hijacked and we've been diverted to Bosnia. We don't know how long we'll stay here." This is how I made it to Holland, through Bosnia. Or how I describe having a child with Down syndrome AND the heart conditions.

Having a child with Ds is like taking that trip to Italy, but landing in Holland. Fortunately, I was blessed to know beforehand that I was going to Holland, so I prepared. BUT, instead of landing in Holland amongst the tulips and windmills, our first year was spent in war.

The first bomb dropped when Aiden was born 41 days early. Due to Aiden's prematurity and inability to eat a full two ounce bottle in under 30 minutes, we spent 30 days in a NICU unit 113 miles away from home.

The second bomb dropped when Aiden wasn't even two months old and went into congestive heart failure. In the middle of the night, we were rushed to the local children's hospital in an emergency vehicle. Lights flashing and sirens wailing. Aiden would now take Lasix and Lanoxin three times a day.

At 4 months of age, the third bomb dropped when we went for a cardiac cath procedure. Following the procedure, the team of cardiologists and the surgeon held a conference. It seems that Aiden's heart issues were too complicated to do at our local children's hospital and that we would be going back to the high risk hospital where Aiden was born, 113 miles away from home. And surgery would be sooner rather than later. What the hell is that supposed to mean?!

5 weeks later..........

I tend to compare Aiden's open heart surgery to the equivalent of a 40 ton nuclear bomb going off in the back yard. (For that story, click here.) What was supposed to be a drill (simple 3 hour surgery), ended up being Hiroshima (8 hours of surgery and 5.5 weeks recovering in a hospital room). Aiden came home on 9 medications for his heart.

On Mother's Day this year, we spent the evening in the emergency room at the local children's hospital and Aiden was admitted for a collapsed lung and pneumonia. The collapsed lung and pneumonia were caused by a rare complication following heart surgery. It seems that 1 in 4 patients following a traumatic surgery, such as the one Aiden had, develops Chylothorax.

Huh, what? That's what I said at the other hospital when we discovered it and went online to look it up. To make it easy for you... chylothorax is a tear in the thoracic duct. The thoracic duct carries fat throughout our bodies until we absorb it. Well, in Aiden's case, this tear (minuscule as it is) dumps the fat from his formula into his chest cavity on the bottom of his right lung. The fluid build up caused pneumonia and the lung to collapse. In order to treat this, pleurodesis is preformed. Now that procedure is where they knock you out with Ketamin, then stick a chest tube in you, and spray adhesive into your chest. Hopefully, the adhesive makes the lung stick to the chest cavity, forcing the lung to fill with air, pushing the build up of fatty fluids out of the chest tube.

Oh, and while we are in the hospital, his cardiology team discovers that Aiden is having episodes of atrial tachycardia. This is when the heart rate goes waaayyy up into numbers that cardiologists don't like seeing. Like, ummm, 240. The normal heart rate for Aiden is between 98 and 111. So, Aiden now gets three medications twice a day on a daily basis. Lasix, Lanoxin, and amiodarone (good thing I can spell that one, because NONE of Aiden's doctors can! They have to go look up what it does every time we go in.)

At the follow up visit to Aiden's hospital stay, his cardiologist puts Aiden on yet another medication, Enalapril. Have you ever tried to trick a 10 month old into taking a medication, let alone 4 of them? Oh, for the love of all that is unholy!! At that age, the child has enough intelligence to spit out all 4 medications and land them directly in your mouth, with the precision of a Patriot missile. And the only reason your mouth is open is because you are cussing the doctor that prescribed these medications in the first place. Of course you are doing this in a nice manner, because at least the child will smile and you can squirt .5 mL (out of 9 mL) at a time.

And in this year, you have purchased a day planner. Which you have a heart attack if you lose, because it tells you when you can schedule a trip to the bathroom in between dr appointments, therapies, evaluations, and driving distances to the other team of doctors 113 miles away. Your cell phone now has phone numbers of every doctor your child sees, with descriptions of what that doctor is, in case you forget.

You know how vehicle manufacturers recommend getting the oil changed every 3 months or 3,000 miles, which ever comes first? Well, I never understood how someone can put 3,000 miles on a vehicle in under three months. Until now. I joke you not, I have put 3,000 on my vehicle in under 2 months. Problem is, I'm not dodging bombs or bullets, I'm heading directly into the line of fire.

For the past year, I have been trying to get to my original place of destination, Holland. I can jump up and down and see all the other moms and children over there. Playing in the windmills, smelling the tulips, and reveling in the beauty of the Rembrandts. I know Holland exists, I can hear the laughter.

So, how do you know when you finally get to go to Holland? When the cardiologist tells you, "See you in two months, not two weeks." I heard those exact words last month. There were no runs of atrial tachycardia, the chylothorax hasn't gotten worse, the mitrial valve leakage has cleared up, and his heart looks perfect.

I think we have landed again. Now, to stand up, get our carry on bags, and HOPE to all that is holy, the flight attendant says, "Welcome to Holland".

Day 25 - Trisomy 21 - The History of Down Syndrome

A Brief History

The formal story began in 1866, when a physician named John Langdon Down published an essay in England in which he described a set of children with common features who were distinct from other children with mental retardation. Down was superintendent of an asylum for children with mental retardation in Surrey, England when he made the first distinction between children who were cretins (later to be found to have hypothyroidism) and what he referred to as "Mongoloids."
Down based this unfortunate name on his notion that these children looked like people from Mongolia, who were thought then to have an arrested development. This ethnic insult came under fire in the early 1960s from Asian genetic researchers, and the term was dropped from scientific use. Instead, the condition became called "Down's syndrome." In the 1970s, an American revision of scientific terms changed it simply to "Down syndrome," while it still is called "Down's" in the UK and some places in Europe.
In the first part of the twentieth century, there was much speculation of the cause of Down syndrome. The first people to speculate that it might be due to chromosomal abnormalities were Waardenburg and Bleyer in the 1930s. But it wasn't until 1959 that Jerome Lejeune and Patricia Jacobs, working independently, first determined the cause to be trisomy (triplication) of the 21st chromosome. Cases of Down syndrome due to translocation and mosaicism (see definitions of these below) were described over the next three years.

The Chromosomes

Chromosomes are thread-like structures composed of DNA and other proteins. They are present in every cell of the body and carry the genetic information needed for that cell to develop. Genes, which are units of information, are "encoded" in the DNA. Human cells normally have 46 chromosomes which can be arranged in 23 pairs. Of these 23, 22 are alike in males and females; these are called the "autosomes." The 23rd pair are the sex chromosomes ('X' and 'Y'). Each member of a pair of chromosomes carries the same information, in that the same genes are in the same spots on the chromosome. However, variations of that gene ("alleles") may be present. (Example: the genetic information for eye color is a "gene;" the variations for blue, green, etc. are the "alleles.")

Human cells divide in two ways. The first is ordinary cell division ("mitosis"), by which the body grows. In this method, one cell becomes two cells which have the exact same number and type of chromosomes as the parent cell. The second method of cell division occurs in the ovaries and testicles ("meiosis") and consists of one cell splitting into two, with the resulting cells having half the number of chromosomes of the parent cell. So, normal eggs and sperm cells only have 23 chromosomes instead of 46.

This is what a normal set of chromosomes looks like. Note the 22 evenly paired
chromosomes plus the sex chromosomes. The XX means that this person is a female. The test in which blood or skin samples are checked for the number and type of chromosomes is called a karyotype, and the results look like this picture.

Many errors can occur during cell division. In meiosis, the pairs of chromosomes are supposed to split up and go to different spots in the dividing cell; this event is called "disjunction." However, occasionally one pair doesn't divide, and the whole pair goes to one spot. This means that in the resulting cells, one will have 24 chromosomes and the other will have 22 chromosomes. This accident is called "nondisjunction." If a sperm or egg with an abnormal number of chromosomes merges with a normal mate, the resulting fertilized egg will have an abnormal number of chromosomes. In Down syndrome, 95% of all cases are caused by this event: one cell has two 21st chromosomes instead of one, so the resulting fertilized egg has three 21st chromosomes. Hence the scientific name, trisomy 21. Recent research has shown that in these cases, approximately 90% of the abnormal cells are the eggs. The cause of the nondisjunction error isn't known, but there is definitely connection with maternal age. Research is currently aimed at trying to determine the cause and timing of the nondisjunction event.

Here's the karyotype of a male with trisomy 21:

Three to four percent of all cases of trisomy 21 are due to Robertsonian Translocation. In this case, two breaks occur in separate chromosomes, usually the 14th and 21st chromosomes. There is rearrangement of the genetic material so that some of the 14th chromosome is replaced by extra 21st chromosome. So while the number of chromosomes remain normal, there is a triplication of the 21st chromosome material. Some of these children may only have triplication of part of the 21st chromosome instead of the whole chromosome, which is called a partial trisomy 21. Translocations resulting in trisomy 21 may be inherited, so it's important to check the chromosomes of the parents in these cases to see if either may be a "carrier."

The remainder of cases of trisomy 21 are due to mosaicism. These people have a mixture of cell lines, some of which have a normal set of chromosomes and others which have trisomy 21. In cellular mosaicism, the mixture is seen in different cells of the same type. In tissue mosaicism, one set of cells, such as all blood cells, may have normal chromosomes, and another type, such as all skin cells, may have trisomy 21.


The 21st Chromosome and Down Syndrome

The chromosomes are holders of the genes, those bits of DNA that direct the production of a wide array of materials the body needs. This direction by the gene is called the gene's "expression." In trisomy 21, the presence of an extra set of genes leads to overexpression of the involved genes, leading to increased production of certain products. For most genes, their overexpression has little effect due to the body's regulating mechanisms of genes and their products. But the genes that cause Down syndrome appear to be exceptions.

Which genes are involved? That's been the question researchers have asked ever since the third 21st chromosome was found. From years of research, one popular theory stated that only a small portion of the 21st chromosome actually needed to be triplicated to get the effects seen in Down syndrome; this was called the Down Syndrome Critical Region. However, this region is not one small isolated spot, but most likely several areas that are not necessarily side by side. The 21st chromosome may actually hold 200 to 250 genes (being the smallest chromosome in the body in terms of total number of genes); but it's estimated that only a small percentage of those may eventually be involved in producing the features of Down syndrome. Right now, the question of which genes do what is highly speculative. However, there are some suspects.

Genes that may have input into Down syndrome include:

Superoxide Dismutase (SOD1)-- overexpression may cause premature aging and decreased function of the immune system; its role in Senile Dementia of the Alzheimer's type or decreased cognition is still speculative
COL6A1 -- overexpression may be the cause of heart defects
ETS2 -- overexpression may be the cause of skeletal abnormalities
CAF1A -- overexpression may be detrimental to DNA synthesis
Cystathione Beta Synthase (CBS) -- overexpression may disrupt metabolism and DNA repair
DYRK -- overexpression may be the cause of mental retardation
CRYA1 -- overexpression may be the cause of cataracts
GART -- overexpression may disrupt DNA synthesis and repair
IFNAR -- the gene for expression of Interferon, overexpression may interfere with the immune system as well as other organ systems
Other genes that are also suspects include APP, GLUR5, S100B, TAM, PFKL, and a few others. Again, it is important to note that no gene has yet been fully linked to any feature associated with Down syndrome.

One of the more notable aspects of Down syndrome is the wide variety of features and characteristics of people with trisomy 21: There is a wide range of mental retardation and developmental delay noted among children with Down syndrome. Some babies are born with heart defects and others aren't. Some children have associated illnesses such as epilepsy, hypothyroidism or celiac disease, and others don't. The first possible reason is the difference in the genes that are triplicated. As I mentioned above, genes can come in different alternate forms, called "alleles." The effect of overexpression of genes may depend on which allele is present in the person with trisomy 21. The second reason that might be involved is called "penetrance." If one allele causes a condition to be present in some people but not others, that is called "variable penetrance," and that appears to be what happens with trisomy 21: the alleles don't do the same thing to every person who has it. Both reasons may be why there is such variation in children and adults with Down syndrome.


Toward the Next Century

Researchers are busy in their attempts to map out the full structure of the chromosome, including the Human Genome Database. Because of the small size of the 21st chromosome and its association with Down syndrome, it is the second-most heavily mapped human chromosome. Research is focusing on trying to identify genes and their effects when overexpressed.

However, it would be a mistake to assume that the clinical features of Down syndrome are only due to a handful of genes being overexpressed. You can think of the overexpressed gene products interacting with a number of normal gene products, each product individualized by the person's unique genetic makeup, and thus being thrown "out of genetic balance." This would then make the person more susceptible to other genetic and environmental insults, leading to the features, diseases and conditions associated with Down syndrome. It is this complex arrangement that scientists will be addressing in the second century of Down syndrome research.

I Have Down Syndrome, but Don't Feel Sorry for Me

by Anya Souza

Finding out you're carrying a baby with a condition such as Down's syndrome can be a devastating blow. But what's it like to be born with it? Here, in her own words, one woman explains why such a diagnosis is far from the end of the world.

Anya Souza, 40, lives with her long-term partner, Paul, 50, in North London. She works as a stained-glass artist and is a trustee of the Down's Syndrome Association.

My mother was 44 when she had me and I've got two big sisters as well. Mum was an actress and Dad a well-known Indian artist. They separated when I was two. Mum raised us on her own, which must have been hard.

Back in the Sixties people didn't talk much about Down's syndrome, and amniocentesis wasn't available. Mum didn't talk to me about it as I was growing up, but later she told me that, when I was born, the doctors said I'd be mentally and physically handicapped for the rest of my life - as if I wouldn't be able to do anything for myself. But a nurse came in a few minutes later and said, "Don't listen to them, Mrs Souza. Your daughter will give you great pleasure." That part was true. Mum was always hugging me and telling me she loved me, and I know I made her proud.

At five I was sent to a special school, but only stayed a term. One day our teacher made a brown stuffed rabbit and told me to take it home to show Mum. I ripped it up because I felt cross that I hadn't been given the chance to make it myself like the other kids. As time went by, Mum realised I wasn't being helped to learn anything. The last straw was when she overheard the head teacher asking what a "mongol" was doing in her school.

Mum went to court to get me into a mainstream school, where I stayed six years. It's different now, but back then, if you had Down's syndrome, you were expected to go to special school, however capable you were, and parents had to put up a fight if they disagreed. I loved the new school.

At the age of 11, I went to the same comprehensive as my sisters, Karen and Francesca, and had my first experience of bullying. An older boy pushed me over in the playground, crushing my fingers so badly I had to go to hospital. Another time I was spat at and someone poured hot custard over my head. I was disgusted at the way some children and even a few teachers reacted to me because I was different.

I had two friends, Nicola and Samantha, who'd always stick up for me. And my sisters were very protective. I remember one day a boy started kicking me. I felt really scared, but Karen shouted, "Stop or else I'll kick you." The boy looked shocked and ran off.

People could see I had Down's syndrome because of my features. My eyes are almond-shaped, my nose is small, my feet are flat and I have tiny hands. I must have been about 17 when I looked in the mirror and thought, "Is this really me?"

But I don't remember feeling bad about myself, because I thought I looked pretty and I knew I was bright. When I read about a girl in America whose parents put her through loads of operations to change her Down's syndrome features I was horrified. They thought they were making her look "normal", but the child had no say. I'd never consider plastic surgery - I'm happy with my face. Mum encouraged me to be independent by teaching me to cook and do housework. She felt it was important to give me freedom. She believed in me so I believed in me.

I left school at 18 with three CSEs and went to college to study office skills and catering. At 21, I got a clerical job at the Down's Children's Association, where I stayed for 13 years. After that I worked for Camden Society for the Mentally Handicapped, then became Development Officer for Young people First, where we ran the first national conference for people with Down's syndrome. I met my partner, Paul, at a conference for people with learning disabilities when I was 21. He's ten years older than me and has diabetes. It was love at first sight. That night there was a dinner with dancing afterwards. Paul held out his arms for me to dance with him. It was very romantic. Afterwards, he phoned and asked me out for a meal.

We've been together ever since. When we met, Paul was living with his grandmother. She was old-fashioned and didn't like her grandson having a Down's syndrome girlfriend. So Paul stayed with me at weekends. We moved in together properly in 1998. The fact that I have Down's has never been a problem for Paul. He loves me and admires my positive attitude. We both like classical music and reading Harry Potter books. He's a very soothing person. I call him my "hunny bunny".

Marriage isn't important to us because we'll be together forever. We would have liked our own family, but decided against it. There was a one in three chance our child would have Down's syndrome and it could also inherit Paul's diabetes. I wouldn't mind having a Down's syndrome baby because I'd give it all the love my mother gave me, but I'd probably find it hard to cope without help. And, financially, it would be a struggle.

Sometimes people stare at me in the street. One man on the train even called me "mongol". I thought it best to ignore him, but I felt very angry. Another time a boy laughed at me on the bus. This time I stood up in front of everyone and gave him a mouthful.

It amazes me that strangers make rude comments. Who are they to judge? Checkout assistants have asked me if I have the money to pay for the food in my basket. I just give them a stare and have been known to shout, "Excuse me?" Just because I have a disability it doesn't mean I'm stupid or penniless.

As a trustee of the Down's Syndrome Association I've given talks and have even been on TV. My message is that we can achieve a lot more than people imagine, and we deserve more respect.

My father died last year, but he lived in America and we weren't close. But when Mum died of a heart attack in 1990 it was the biggest bombshell of my life. I wanted to stay in the family home because I grew up here. Mum had prepared me for the day when I'd have to look after myself, and I hated the idea of being dependent on anybody else. People were stunned when I said, "I'm happy to live here alone." They worried I might set the place on fire. But 13 years have passed and I haven't. I have a cleaning lady, but I do the shopping, laundry and cooking. Every Sunday I do a roast - Paul chops the vegetables.

Mum's best friend was a lady called June. Since Mum died she's become a second mother to me. June's a stained-glass teacher and I asked her to show me the techniques. I love the colours of the glass. At first I made mirrors, but now I do mosaics and candle boxes, too. My picture of a mermaid was in an exhibition at the Houses of Parliament, and the MP Glenda Jackson wrote me a letter saying she really liked it. Some of my work was also shown at Ely cathedral.

I don't feel sorry for myself and I don't want anyone else to feel sorry for me, either. I enjoy my life so there's no need. I'd have liked the doctors who made those comments when I was born to see what I've achieved.

In the Face of Down Syndrome

"Those who don't perceive beauty in the face of a Down Syndrome person are either bilnd to all beauty, or are so fearful of difference that they must at once turn away from every encounter with it."

Dean Koontz
exceprt from the book Seize the Night

Day 24 - Down syndrome, The FAQs

Q: What is Down Syndrome?
A:Down syndrome, known commonly (although not always) as Trisomy 21, is a chromosomal disorder that is believed to occur at conception. As the result of and extra, or “copied” chromosome that the developing fetus possesses, the child with Down syndrome is born with a combination of physical, medical, and cognitive disorders which vary in severity from case to case. Included in these congenital anomalies are differences in stature, facial characteristics, and muscle tone as physical traits; increased incidence of heart defects, gastrointestinal problems, immunodeficiency problems, and vision and hearing problems are common medical problems; and mental retardation ranging from almost undetectable to profound is the result of the cognitive impairment associated with the syndrome.

Once known as Mongoloidism, and later Down’s syndrome, the name of the condition was changed in the 1970s to remove the possessive quality of the condition’s moniker. The name Down’s syndrome, however, is still used in the United Kingdom, and in some other countries in Europe. People searching for complete information about Down syndrome may want to search under both names.

Q: Why does Down syndrome occur?
A: Down syndrome is the result of an extra copy of chromosome 21. There are 23 sets of chromosomes in the average, healthy, “normal” person, with two chromosomes present per set. Therefore, people with Down syndrome have three chromosomes 21, and forty-seven chromosomes in total, as opposed to the forty-six found in most people.

This extra, or “copied” chromosome in people with Down syndrome is caused by one of three chromosomal phenomenon. These abnormalities are called non-disjunction, mosaicism, and translocation. Depending on the type of Down syndrome a person has, the extra chromosome may be found in all of his or her cells, or only in some, however all people with Down syndrome will have some occurrence of the extra chromosome 21.

Q: My child has Down syndrome. Was there something I did to cause it?
A: Down syndrome is not the result of any habit or behavior on the part of the parents. Down syndrome is the result of a chromosomal anomaly, and is not the result of eating patterns, lifestyle, or overall health of the parents. It is not linked to pre-conceptional or gestational drug or alcohol use by the parents.

There is a strong correlation between Down syndrome and the age of the parent, most particularly the mother, at the time of conception and gestation. However, due to the fact that the reproduction rate drops dramatically as women age, the overwhelming majority of Down syndrome children are born to mothers under the age of thirty-five.

Q: Is Down syndrome hereditary?
A: In approximately 3% of cases, Down syndrome is thought to be hereditary. Generally, the children with hereditary Down syndrome are the product of a chromosomal anomaly called translocation (one of the three causes of Down syndrome). In translocation, the age of the mother is not considered to be a factor. Rather, there seems to be a genetic factor that is carried in one of the parents. Because of this, parents with a child with Down syndrome due to translocation run a greater risk of having a second child with the condition than those with a child born with it due to non-disjunction or mosaicism.

Q: I already have a child with Down syndrome. How likely is it that my next child will have the condition?
A: Very unlikely. For parents with a child with Down syndrome due to non-disjunction or mosaicism, the chances of having another child with the condition is the same as it was before they had their child with Down. Parents of children with Down syndrome due to translocation run a slightly higher chance of the condition repeating itself. As noted above, this chance is approximately 3%.

Q: What, specifically, are the causes Down syndrome?
A: Down syndrome is the result of an extra copy of chromosome 21. There are 23 sets of chromosomes in the average, healthy, “normal” person, with two chromosomes present per set. Therefore, people with Down syndrome have three chromosomes 21, and forty-seven chromosomes in total, as opposed to the forty-six found in most people.

This extra, or “copied” chromosome in people with Down syndrome is caused by one of three chromosomal phenomenon. These abnormalities are called non-disjunction, mosaicism, and translocation. Depending on the type of Down syndrome a person has, the extra chromosome may be found in all of his or her cells, or only in some, however all people with Down syndrome will have some occurrence of the extra chromosome 21.

Q: How many types of Down syndrome are there?
A: There are three identified types of Down syndrome: Down syndrome due to non-disjunction, mosaicism, and translocation. All three types are caused by anomalies in the pairing of chromosome 21. In non-disjunction and mosaicism, there is an extra copy of the chromosome, and in translocation, a piece of one of the original chromosome 21s breaks off and attaches itself to another chromosome.

By far, the most prevalent type of Down syndrome is due to non-disjunction, which accounts for approximately 95% of the incidence of the syndrome. This condition is also known as Trisomy 21. Because such a high percentage of people with Down syndrome are the result of non-disjunction, all people with the condition are commonly identified as having Trisomy 21, even though this is inaccurate about 5% of the time

Q: How often does Down syndrome occur?
A: Down syndrome occurs in approximately 1 out of 800 live births.

Q: Where can I get more information about Down syndrome?
A: There is a lot of information available about Down syndrome. For web based searches, I recommend the websites for the National Down Syndrome Society and the National Association for Down Syndrome.

There is, however, a wealth of information available on line about Down syndrome. For a fairly comprehensive list of Down syndrome resources on the Internet, check out this page of the site downsyndrome.com.

Day 24 - About Down syndrome

Down syndrome, named after Dr. J. Langdon Down after reporting the first case in 1866, is a chromosomal condition, related to chromosome 21, that occurs in one in every 800 to 1,000 live births. National Down Syndrome Awareness Month, celebrated in October, aims to educate and make aware to the community the risks, symptoms and treatments for Down syndrome (also known as Trisomy 21). According to the National Down Syndrome Society, in America there are approximately 350,000 people with Down syndrome.

What Increases Your Risk?

Being an older mother. Women over age 35 have an increased risk for having a child with Down syndrome; as women age, that risk increases.
Being an older father. Men ages 45 and up may have a slightly increased risk for having a child with Down syndrome. It is not as significant, however, as the mother's age.
Having had a child with Down syndrome. Those who have already had a child with Down syndrome have a 1-in-100 chance of having another child with the condition.

What Are the Signs?

Typically, a child presents signs of Down syndrome at birth or shortly afterward. Some common characteristics among them are:

Flat facial profile 90%
Poor Moro reflex 85%
Hypotonia (low muscle tone) 80%
Hyperflexibility of large joints 80&
Loose skin on back of neck 80%
Slanted upper and lower eyelids (the almond shaped eyes) 80%
Dysmorphic pelvis on radiographs 70%
Small round ears 60%
Hypoplasia of small finger, middle phalanx (curvature of pinkie and middle finger)60%
Single palmar crease 45%
Brushfield spots 87%
Gap between big toe and first toe >64%


Those with Down syndrome oftentimes have medical and developmental disorders as well, including:

Mental retardation >95%
Growth retardation >95%
Early Alzheimer's disease Affects 75% by age 60%
Congenital heart defects (atrioventricular canal defect, ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot) 40%
Hearing loss (related to otitis media with effusion or sensorineural) 40 to 75%
Ophthalmic disorders (congenital cataracts, glaucoma, strabismus) 60%
Epilepsy 5 to 10%
Gastrointestinal malformations (duodenal atresia, Hirschsprung disease) 5%
Hypothyroidism 5%
Leukemia 1%
Atlantoaxial instability <1%
Increased susceptibility to infection (pneumonia, otitis media, sinusitis, pharyngitis, periodontal disease) Unknown
Infertility >99% in men; anovulation in 30% of women


Although Down syndrome is a life-long condition with no significant treatment, many people with Down syndrome live well-balanced, happy lives well into their 50s


There are three types of Down Syndrome. It is estimated that ninety-five percent of the individuals born with Down Syndrome have Trisomy 21. What this means is the individuals have an extra twenty-first chromosome. No known cause has been discovered but research says that the extra chromosome could have resulted from some genetic material sticking together. All of the chromosomes are normal but the extra twenty-first causes a genetic imbalance that alters the normal course of development.

About three percent of the individuals born with Down Syndrome have Translocation, the only type that can result from a condition in the parent's genes. Only two percent have the least common form of Down Syndrome called Mosaic, where a faculty cell division occurs after fertilization.

Day 23 - My Life Will Never Be the Same Again

by Cheryl Magnussen
who dedicates this to her daughters Allie & Angel

God made a living miracle
with his very own paintbrush.
As each stroke of His hand
touched upon the canvas
He created a child;
one that He loved so very dearly,
one that He knew would change the hearts
of everyone who took the time to know her,
a child who would show this world
countless unknown miracles,
….a child with special needs.
God must love me so very much
as He trusted in me
to become the mother
of this sweet angel child.
In doing so
He gave me a new life.
One that slows the clocks of time,
teaches me to pause and smell the dandelions,
shows me there is beauty in a goat
and has me catching snakes to revel in their colors;
a life that grants me lessons in respect,
true courage, humanity and advocacy.
God rescued me through this child
and ever so thankfully…..
my life will never be the same again.

Day 22 - Do You Know the Facts?

THERE ARE OVER 350,000 PEOPLE IN AMERICA WITH DOWN SYNDROME

DOWN SYNDROME IS THE MOST COMMON CHROMOSOMAL ABNORMALITY

DOWN SYNDROME WAS NAMED AFTER DR.J.L.DOWN IN 1886. HE IS CREDITIED WITH BEING THE FIRST PERSON TO DESCRIBE THIS DISORDER.

ABOUT 80% OF CHILDREN WITH DOWN SYNDROME ARE BORN TO MOTHERS UNDER THE AGE OF 35

THE CAUSE AND PREVENTION OF DOWN SYNDROME IS UNKNOWN. IT IS NOT RELATED TO RACE, RELIGION, OR SOCIOECONOMIC STATUS. DOWN SYNDROME CAN OCCUR IN ANY FAMILY.

DOWN SYNDROME CAUSES A DELAY IN A PERSON'S PHYSICAL AND INTELLECTUAL DEVELOPMENT. THE DEGREE VARIES GREATLY IN INDIVIDUALS WITH DOWN SYNDROME. WITH EARLY INTERVENTION AND POSITIVE ATTITUDES, PEOPLE WITH DOWN SYNDROM CAN ENJOY FULL AND REWARDING LIVES.

THE LIFE EXPECTANCY OF PEOPLE WITH DOWN SYNDROM IS THE SAME AS THE AVERAGE PERSON

DOWN SYNDROME IS A CONGENITAL DISABILTIY; IT EXISTS BEFORE BIRTH. THE TERM “BIRTH DEFECT” IS NOT APPROPRIATE.

DSAT Buddy Walk 2007

Make video montages at www.OneTrueMedia.com

Day 21 - Irony?

Today we are going to be blessed with spending the day with the best group of people. Today we are going to our local Buddy Walk!! Today, the 21st day of the month, we are celebrating the 21st chromosome.

Day 21 - Different?

Is a child or adult with Down Syndrome, any less capable of feeling or displaying emotions than what you or I display?

The answer to that question is...No.

We all experience happiness, sadness, disappointment, hurt, love, tears, and we all have an inner need to feel loved, wanted, and needed.

As well, most of us have a drive to compete, and be the best we can be in life.

We seek knowledge and have a high degree of curiosity enabling us to try and figure out things, and to wonder about those which we do not understand.

Those with Down Syndrome are no different.


To teach a child that having a disability is different is wrong. How do children learn about being different? Is it something that is inherent from birth or is it something we as adults teach our kids? To label a person is prejudging and teaching that differences matter. My child with Down syndrome is no different than the typical developing child. He smiles, he plays, he sings. He gives hugs and kisses to those he loves. He laughs. He is a child.

Granted he may learn different things at different times. But no two children work on the same timeline. He may need additional help and modifications. However, everyone does to an extent; it makes it easier on life, doesn't it?

Instead of sending a letter in the mail, we have electronic mail with spell checking. Instead of getting off our butts and going to a library to research, we have Google. Instead of going to a bookstore to purchase a book, we use Amazon, for a small fee they ship the book to our front door. Some grocery chains will even deliver the week's food items to your front door.

Do I teach my child that having Down syndrome is a disability and he is different? That is what society thinks I should do. There are some who do not want my child placed in a typical educational setting because my child learns differently. "He should be with his own kind, you know those kind." It is as if my child is a second class citizen. Or should I continue to strive for what is best for my child; to give him every opportunity a child should have?

Should I take away his Nike shoes, his Ralph Lauren clothing and let him wear rags? Should I go with second rate health care or keep going to the best specialists in the state?

Down syndrome is NOT a disease, it's not contagious. Your typical developing child is not going to catch it by being in the same class room as my child. My child will learn from your children and in return, your children will learn acceptance and that being different is really no different at all.

Test or No Test

Let's start a new question, shall we? To test or not to test for chromosomal abnormalities? As a believer in Pro Choice and as a mother of a child with a little something extra, I have tried to stay out of this debate. However, I went to a forum today where a woman who is 20 weeks pregnant and received a prenatal diagnosis of T21 was given the "one week to decide" option of termination.

According to ACOG, the American College of Gynecologists and Obstetricians, all women regardless of age should be offered the option of a prenatal test to check for such abnormalities. I, myself, chose to get tested. Aiden had a very significant heart defect and I wanted to know why. Was a diagnosis going to change the way I felt toward my child? Or even change that I loved my child? No, but I wanted to know.

When I went in for the amniocentesis, I was scared. I'm not going to lie and say I wasn't. I was worried also. We knew from the level 2 ultrasound that there wasn't a physical abnormality. I laid on that table while my ob/gyn stuck a long needle into my belly. All I could think was "Please don't hit the baby".

In my mind and my heart, I knew that Aiden was going to be "special". I was given the option when I found out that I was pregnant to terminate. But something told me that I couldn't. I would accept whatever God was going to grant me.

When the results of the amnio came back, I received a call from my ob/gyn. She asked if I knew what Trisomy 21 was. I kept trying to visualize the pregnancy book I had bought. I knew the term, but for the life of me could not remember what it was. When she told me it was Down syndrome, I sat silent for a second. Then I responded with "OK".

The diagnosis of Down syndrome wasn't a life sentence. It meant that I had a child who was here to teach the world something. Children with Down syndrome are special in their own way. Have you ever met someone who didn't smile when you met? A child with Down syndrome isn't that way. No matter what, you always smile when you meet a child with Down syndrome.

In August, the NDSC held their yearly conference. At this year's conference a seminar regarding the validity of prenatal testing was conducted. Now, I'm not saying that a prenatal diagnosis is wrong regardless, but let's determine how most pregnancies are handled on a short term following the initial diagnosis.

The majority of doctors would give the option of termination. In a way, I can understand why. Having a child with Down syndrome isn't easy. But who is to say that my child isn't perfect? Certainly not some doctor who sees me once year for an annual exam. To tell a parent that a child with any chromosomal abnormality isn't perfect is ridiculous. Define perfection. I dare you. Are your kids perfect? Is everything that child of yours does the epitome of perfection? I highly doubt it.

I'm talking the type of perfection where you have not once thought "Where did you come from? I know you did not come from me" The type of perfection where you never looked at your child as if he grew a third head. The type of perfection where you have never been ashamed to take your children to the grocery store because of the "fiasco" you know will ensue. The type of perfection where everyone on God's green earth would want to be you. Never having to tell your children to shut a door, eat breakfast, eat vegetables and fruit, do your homework. That kind of perfection. The type of perfection all parents wish for, but we ourselves were cursed at one time by our own parents - "One day you will have a child just like yourself! And when you do, I'm going to laugh!!" If you can answer yes, please tell me what drug you are taking. Admit it, your children have given you times of grief, sadness, heartbreak, and headaches. That's what children do. As much as we as a whole would like to think, we do not live in Utopia.

To terminate a child simply based on a diagnosis of Down syndrome is totally absurd. If ADHD was capable of being diagnosed prenatally, would you terminate? Or how about pretesting for cancer? Think about that for a second. Everyone has the cancer gene, but whether it chooses to rear it's ugly head is a mystery. Would you terminate? What about dyslexia? Then there is deafness... What about testing for the possibility that your child will not be one who sleeps all night long? Of course, none of these things are tested for. But, why separate one disability from a wide range of conditions that can not be controlled? If you think about this for a moment, Einstein was mentally retarded. Should he have been terminated? He was a mathematical genius, but he could not tie his own shoe.

Instead of only offering the choice of abortion, why don't doctors also offer to contact a mentoring (or support) group? How about adoption? Well now, there is an option. If you do not think that you are capable of giving a child with Down syndrome the life he/she deserves, there are families out there waiting to love your child. Do you love your child enough to give him the best life possible?

After all, it's not how this diagnosis affects you, but how you affect the diagnosis.

Day 20 - True or False?

TRUE OR FALSE?
The majority of children with Down syndrome are born to women over 35
False
Women under 35 years of age give birth to more than 80% of children with Down syndrome

Children with Down syndrome have severe mental disabilities
False
There is a wide variation in mental abilities, behavior and physical development in individual with Down syndrome

Children with Down syndrome look alike and have passive, loving personalities.
False
Children with Down syndrome resemble their families in appearance and temperament much more than they do each other

Day 19 - Never Underestimate

Chick Here

Just in from the NDSS

And on the same day I posted something about education.

During September, the NDSS Policy team was busy analyzing and responding to a No Child Left Behind (NCLB) discussion draft that was released by the Committee on Education and Labor of the U.S. House of Representatives. It is called the Miller-McKeon discussion draft after the two California Congressmen who are the chair and ranking member, respectively, of the Committee. The purpose of the discussion draft was to allow stakeholders to comment on some possible changes to NCLB before the bill is written. NDSS and the National Down Syndrome Congress (NDSC) submitted joint written comments to the Committee.

We were extremely disappointed by the many proposed changes that would considerably weaken accountability for all students by giving schools and districts a variety of ways to make Adequate Yearly Progress (AYP) that would dilute the emphasis on proficiency in math and reading and mask low performance by some students with high performance by others. In addition, we are very disturbed by the erosion of the right of students taking assessments on alternate academic achievement standards to have access to and be involved in the general education curriculum. Most students with Down syndrome fall in this category. Under IDEA, all students with disabilities must receive supports and services that ensure this standard, yet the NCLB discussion draft states that these students only have to be included in the general education curriculum to the extent possible and that access to the curriculum has to be promoted but not necessarily provided. In spite of our concerns with these proposed changes we are relieved that the Committee resisted pressure to use IEP goals as the measure of NCLB accountability. IEP goals are not a child's curriculum; they represent the skills needed to access the curriculum.

There were some important positive changes in the discussion draft. One is the cap on the minimum subgroup size a State can select. This change would mean that more schools would be required to count the proficiency rate of students with disabilities when they calculate AYP. Another is the provision that would require States to develop a plan to implement Universal Design for Learning, a framework for education that would make goals, teaching methods, instructional materials and assessments accessible to the widest possible range of learners. NDSS has been spearheading a national coalition of organizations to promote Universal Design for Learning. In spite of the positive changes, the overall effect of the provisions in the discussion draft would be to diminish accountability under NCLB.

Suggestion Box

Alright, it's time to come out from the blog lurking shadows. I know there are hundreds of you checking in on us every week, and that's GREAT! But I'd like to know what you'd like to hear about or see in pictures. Are you interested in therapies, doctor visits, and progress? Do you prefer the "normal life" kind of stuff? Would you like to know any specific things about Down syndrome, heart defects, or just every day Aiden stuff?

Come on, take the plunge....leave me a comment with what you'd like to see or what your favorite part of All About Aiden is. You're taking the time to come by to see us...we'd like to make it worth your while!

Bloggers love comments, and they don't have to be anything especially clever or witty. It's just a way for us to see who's checking us out and have some feedback of what others are thinking. I've learned a whole lot from the comments made here and on others' blogs...tons, really. So when you read a new post, take a minute and let the author know what you're thinking. Just click on the link for comments at the bottom of the post, type in your comment, then click on "other" and put in whatever name you'd like to use in the "name" box. You don't need to put in an email or web address. If you have a Google account, then you have the option to use that as well. Then just click "Publish your comment." It's like an online hug! Send a comment!

What Education Means to Us

Kat over at has issued a challenge.Alexander's Heart: Education contest- win a Fly Fusion pentop computer She wants to know how you feel about the education in your country, your school districts? Maybe you home school, tell us why. How can we, as a people improve our children's education and our schools?

Well, Aiden goes to a private christian school for special needs children. There are 64 children chosen to attend this school every year, starting from birth through 6 years. When I got the diagnosis of Down syndrome, my ob/gyn recommended that I place Aiden on the waiting list. We were on the list for a year. One day in July, the call came for placement. This is a huge opportunity for Aiden.

At the school, the children have therapists, a teacher who specializes in special education, and an assistant. 4 out of 5 days a week, Aiden is in pt, st, and ot just to work on gross and fine motor skills. We buy special teethers and toys to teach oral skills. We buy tons of different sippy cups to find one that our children will drink from. What we hope to achieve at school for Aiden is full inclusion once he reaches first grade.

I don't want Aiden to be stuck in a special needs class where the children don't learn anything. I want Aiden to reach his full potential as a child, not just a child with Down syndrome. I know kids who were placed in these types of classes and it seems that they don't progress much past the age of three. Why would anyone want to "abuse" these special kids and just leave them alone?

To be part of society, our kids MUST be given the same opportunities as any typical developing child. Federal laws state that our kids be given the same opportunities. Don't teach them 1 + 1 = 2 and be done with it. Our kids need to learn to read, speak correctly and that includes grammatically correct. No, I'm not saying that Aiden has to learn to break a sentence down, but IF he CAN, let him.

They say it takes a village to teach a child. I think it does. To place a special needs child in a special needs class his or her entire educational life, is like the blind leading the blind. Our children will learn from your typical developing children. Your children are the best teachers for our children. Having a special needs child in a typical classroom does not slow down the learning of typical children. It helps those typical children to accept things that are different, to be caring individuals, to help those who need help, and to become a great peer. Don't teach your kids to focus on what our kids can't do. Instead let them know all the things our kids can do.

We as parents of a special needs child go into the education system with the same fears but with a lot more obstacles. We learn what IEPs, SAPs, paras, and assistive technologies are. We enroll our kids in schools that think they will educate our children how they see fit based on an IQ test. We spend a day going to the school and speaking to all the kids in a classroom teaching them what Down syndrome is and have your kids bombard us with really tough questions that sometimes aren't screened from the teachers beforehand. We have to learn laws and advocate for our children. We teach our children sign language at a very early age so they will have a form of communication. We spend hundreds of dollars on a reading program when our children aren't even 2 years old.

Why? Why do we do all these things? Because society has set the limits on what is acceptable. For our kids to be included in today's society and for whatever society deems appropriate in the future, we purchase, we go to meetings, we fill our daily lives with therapists and teachers, we talk to other parents who have BTDT. We fight like hell when someone tells us that our kids CANT be educated the same way because of funding. Schools get additional money for educating a special needs child.

Should my child receive less education because he has extra chromosomes? The way I look at it, he has MORE chromosomes and requires MORE education. All schools have a "gifted" program for those students who are inclined to be smarter than average. However, they aren't secluded in their own classrooms without interaction from the rest of the student population. Why should a child with less than "desirable" intelligence be segregated. Didn't we learn in the 50s and 60s that segregation was illegal? "Separate but equal" doesn't work.

What is the difference? Leave a comment telling what you think about education in your area.

Day 18 - Extra Chromosome

Tears of laughter, Tears of joy,
Is it a girl, Or, is it a boy?
Two weeks early, I'm coming out,
You'll be surprised, I have no doubt.

Sally, Stuart, Bad news is afoot,
Let's look at the facts, And see what we've got.
One in a thousand, That she be,
However, Not quite like you and me.

They say she'll have low muscle tone,
Due to that extra chromosome.
She may not be bright, Or very tall,
Or even, The smartest kid of all.

She may not be healthy, All of the time,
She may even go before her prime.
But there's one thing that you should know,
You will always reap what you sow.

OK, I may be different, OK I may be slow,
But give me an obstacle and I'll give you a show!
One in a thousand, You bet I am!
Being tall and bright? I don't give a damn!

So, what about this extra cell?
I don't care, I think it's swell.
As you can see I'm very healthy,
I'll probably not stop till I'm a hundred and three.

So what of things now? Well lets look and see,
I have grown so vigorously.
I'm now quite strong and pretty tall,
Not long now, and I'll be on the pull.

There's one last thing I would like to say,
Before we end this special day.
If God should happen to deal you a hand,
Pick 'em up, And make your stand!

Anonymous

Wordless Wednesday

Day 17 - Another Poem of Love

I pushed my little baby out,
they handed him to me.
I looked into his tiny face,
he was as perfect as could be.
Then the doctor said “Down syndrome”,
and my joy turned into fear.
How could he have Down syndrome,
for he was so sweet and dear.
His perfect hands,
his tiny feet and chubby little toes.
His jet black hair, his dark brown eyes,
and little button nose.
They have to be mistaken.
The diagnosis just can’t be.
Then they handed me the test results,
and it was plain to see.
My baby has Down syndrome.
Those words cut like a knife.
My baby has Down syndrome,
and he will for all his life.
I cannot make it better.
It will not go away.
But I can continue to love him,
with every passing day.
For God gave me a child with Down syndrome,
as it was in the plan He had.
And as time goes by I realize, Down syndrome isn’t bad.
My son has filled my heart with love,
and brought me so much joy.
He is my little angel. . . . . . . my perfect little boy!!!!

Love,
Mommy

by Vonda Weikert

Day 16 - Down Syndrome: A Poem of Love

In the spring of 99,
a gift from up above,
was sent to me from heaven
to cherish and to love.
He's not what I expected,
and at first I was afraid,
but who was I to question,
the choice that God had made.
For he gave to me an angel,
so precious and so sweet,
and I thank Him each and every day
that the two of us could meet.
I named my angel Noah,
he's the love that I adore.
He needs me more than ever,
but I truly need him more.
I'll turn my times of sorrow
into happy times at last.
The crying and the heartbreak
will be memories of the past.
We'll look forward to the future
and the milestones that it holds.
We'll battle all the boo boos, the sniffles and the colds.
We're together for a reason,
It was clear right from the start.
I'll be loving him forever, till death our lives will part.

Love,
Mommy

by Vonda Weikert