Sunday, October 23, 2016

Day 23: Special Pediatrician?

Down Syndrome Awareness Month: Day 23

Does my child with Down syndrome need a special pediatrician?

For routine care, a child with Down syndrome does not need to be seen by any sort of specialist, a regular doctor is just fine! The most important thing is to fine a doctor you are comfortable with and who is willing to learn with you.

Day 22: Always Happy?

Down Syndrome Awareness Month - Day 22

Aren't people with Down syndrome always happy?

This is a common myth about Down syndrome. People with Down syndrome experience a full range of emotions just like anyone else. They respond to positive expressions of friendship and they are hurt and upset by inconsiderate behavior.

Octavia can be happy, sad, grumpy, upset, angry, and anything in between. She is just like any typically developing child in that she has a range of emotions and different things can upset her. When she's not feeling well, she can let you know.

Playing in the leaves makes her happy!

Day 21: Book Recommendations

Down Syndrome Awareness Month - Day 21

What are some good books to read about raising a child with Down syndrome?

Here are a few recommended books on Down syndrome for parents:

Recommended books for children:

Day 20: Number of Orphans with Down Syndrome Internationally

Down Syndrome Awareness Month - Day 20

Internationally, how many children with Down syndrome are in orphanages?

In Central and Eastern European countries (excluding Russia), there are more than 1.5 MILLION children who have been placed in "public care". Since we know that statistically, Down syndrome occurs in roughly 1 in every 700 pregnancies, it is estimated that over 2,100 of these children have Down syndrome. Yes, some families try to keep their child born with Down syndrome but that is the rare exception, rather than the rule. Some of these 2,100 children do not survive because of serious medical complications, some because of a lack of medical attention, lack of food, or a lack of love.

In Russia, there are over 700,000 children waiting for families, meaning there are at least 1,000 children with Down syndrome waiting for families.

In Asia (China, Hong Kong, Korea, and India), there are at least 3.5 million orphans, which equates to about 5,000 children with Down syndrome living in orphanages.

In total, that's an estimated 8,100 children with Down syndrome who live in orphanages!

Thursday, October 20, 2016

Day 19: Down Syndrome and Adoption

Down Syndrome Awareness Month - Day 19

Why are there so many children with Down syndrome waiting to be adopted outside the United States?

The simple answer is that there are so many children waiting because these countries don't do prenatal screening so the parents do not know ahead of time that their child will be born with Down syndrome. Since they don't know about it ahead of time, they cannot abort their child.

The more in depth answer is that in many of these countries, children with special needs are seen as a stain on the family line and if they're not given up for adoption, it can be virtually impossible for the other children in the family to get married and have families of their own.

In addition to this, there is also the fact that many of these countries don't have the medical technology that we have readily available and even if they wanted to keep their child, they'd have a hard time finding and affording medical care or occupational therapy.

No matter how much parents might want to keep their child, they sometimes do so for the simple fact that the child will have a better chance to live if they're adopted internationally.

Outside St. Hripsime Church

Day 19: RODS

Down Syndrome Awareness Month - Day 19

RODS - Racing for Orphans with Down Syndrome

Did you know that there is an organization with the mission of nurturing a positive image of Down syndrome and to promote for the adoption of orphans with Down syndrome? They do this by raising adoption grant funds (one child at a time) and participating in organized, athletic races, and awareness events. This organization is called RODS, Racing for Orphans with Down Syndrome. Their goal is to raise $15,000 for each child they fund raise for.

To date, they've raised funds for: 15 children who are now home, 5 children who are in the process of being adopted, and 2 children who are still waiting for their forever families. This means their current child is #23!

One of the families in the process of adopting a girl from Octavia's country found their daughter while she was a RODS child! Sponsor Hadley has more of their story!

The current RODS orphan is Asher and he sure is a sweetie! Here's Asher's Reece's Rainbow page.

Wednesday, October 19, 2016

Day 18: What's My Favorite Thing?

Down Syndrome Awareness Month - Day 18

What's my favorite thing about Octavia?

My favorite thing about Octavia is her personality. She always finds a way to be funny and light up my day. A few pictures that show off her personality:

When did books become a food group?!

Yes, that's my child! ;)

Sitting in a bin of clothes because why not?!

She's cool!

Octavia is not defined by Down syndrome. She is so much more. If you're expecting a child with Down syndrome, please know that your child's value is so much more than you could possibly imagine!

Day 17: Self Advocacy

Down Syndrome Awareness Month - Day 17

Self Advocacy

Many people with Down syndrome can advocate for themselves. Sofia is one of those people. She was adopted from Ukraine as an infant, is a model/spokesperson with the Changing the Face of Beauty campaign, and modeled for Target! You can read more about Sofia here.

Sunday, October 16, 2016

Day 16: Is Down syndrome hereditary?

Down Syndrome Awareness Month - Day 16

Is Down syndrome hereditary?

The only type of Down syndrome that's hereditary (passed through genes from parent to child) is translocation Down syndrome. Of all cases of Translocation Down syndrome, approximately one third (equal to 1% of all cases of Down syndrome) are hereditary.

Unrelated picture but I'm really missing Armenia right now so I'm throwing a picture of Etchmiadzin Cathedral.

Saturday, October 15, 2016

Day 15: Abortions Due to Down Syndrome

Down Syndrome Awareness Month - Day 15

How many babies with Down syndrome are aborted before they're born?

For years, we have heard that an estimated 90-95% of babies diagnosed with Down syndrome in-utero are aborted. Those numbers surfaced in 1999 in Europe, where countries track prenatal diagnoses of birth defects and subsequent abortion. The US doesn't collect that information, and estimates here have been all over the map.

The Jerome Lejeune Foundation released a new study that gives us more solid data. Researchers used  information and data from a dozen states that do track live births of babies with Down syndrome to devise a new estimate of how many babies with Down syndrome were likely aborted. Their model showed that such abortions have reduced the US population of people with Down syndrome by about 30 percent.

That doesn't mean 30 percent of babies with positive tests for Down syndrome were aborted. The number reflects a reduction in the population we'd expect to be living with Down syndrome, regardless of when it was diagnosed. The key is a related study in 2012, which used a mathematical model to estimate that 67% of babies diagnosed with Down syndrome in the US are aborted.

While 67% is certainly better than the 90-95% we're seeing in Europe, it's still too many.

More information can be found in the Jerome Lejeune Foundation's Summer 2015 Newsletter.

Day 14: What should medical professionals say?

Down Syndrome Awareness Month - Day 14

What advice should I give as a medical professional?

Parents who receive the news that their baby has Down syndrome often remember all of the details surrounding it, where they were, what time of day it was, etc.

Conversations should start with positive words, avoiding language that conveys pity or sorrow, and not involve unsolicited personal opinions. Accurate, up-to-date information should be communicated, and information offered for local support groups and community resources.

While you may be required to tell a parent all of their options, please do not continuously repeat that the mother has the option of aborting her baby.... presenting her with her options is one thing, talking about it more than that is borderline harassment. Don't tell them that their child will "suffer" from a "low quality of life".

Use facts and logic when you talk to them. Mention what I've said the previous 13 days. Yes, there are health complications commonly associated with Down syndrome. However, that certainly isn't the only thing about Down syndrome. Mention that with medical technology available today, the life expectancy for children with Down syndrome has increased from 10 years to 60 years. Children with Down syndrome are graduating high school, holding jobs, and can even live on their own. It's not all roses but it isn't professional to only point out the negatives associated with the diagnosis.

Again, I point out that a link to local support groups can be found in the day 8 post.

Octavia says that we're more alike than different!

Thursday, October 13, 2016

Day 13: What do I say?

Down Syndrome Awareness Month - Day 13

What do I say to someone who will be giving birth to a baby with Down syndrome?

What would you say to a mother who is pregnant? You'd say, "Congratulations!" Right? This is the same thing you say to someone who is expecting a baby with Down syndrome.

If you want to go into further detail, tell them how Down syndrome is not a death sentence and their child will teach them the true meaning of life, love, and happiness. That child will bring them immense joy.

Tell them to not be afraid. While it can be scary to receive a diagnosis that makes your child "different", it'll all be okay and there are support networks for families raising children with Down syndrome (more on support networks can be found in the day 8 post).

What do I say to someone whose baby was diagnosed with Down syndrome?

Again, you congratulate them.

You can ask:
- How's the baby's health? Down syndrome does come with health issues but Down syndrome itself is not a health issue.
- How are you? Not everyone wants to talk about their feelings but putting the question out there is appreciated (especially if it's sincere).
- The baby has your [insert feature here]. People with Down syndrome look more like their family than they do each other.
- Can I hold him? Pay attention to him, hold him, love on him. Treat him like you would any other baby.

What should I never, ever say?

Statements that convey or infer pity:
"I'm sorry."
"What a shame."
"How sad."
"Poor thing."
"It could be worse."

Questions such as:
"How severely is he affected?"
"Didn't you have the tests?"

Statements that imply that people with disabilities are a huge burden:
"I couldn't do it."
"I couldn't handle it."
"You're such a saint."

Stereotypical statements that are not helpful and untrue:
"They're such happy and loving children."

Wednesday, October 12, 2016

Day 12: Older Parents and Other Factors

Down Syndrome Awareness Month - Day 12

Aren't most children born with Down syndrome born to older parents?

This is false. Most children with Down syndrome are born to women younger than 35 years old simply because younger women have more children. However, the chances of having a child with Down syndrome increases with the age of the mother, especially after age 35.

A woman's chances of giving birth to a child with Down syndrome increase with age because older eggs have a greater risk of improper chromosome division.

The chances of conceiving a child with Down syndrome:
  • Under age 25 - 1 in 1,400
  • By age 35 - 1 in 350
  • By age 40 - 1 in 100
  • By age 45 - 1 in 30
As the average age of women becoming pregnant increases, Down syndrome is being diagnosed more frequently.

What are other factors?

- A woman who has one child with Down syndrome has about a 1 in 100 chance of having another child with Down syndrome.

- Both men and women can pass the genetic translocation for Down syndrome on to their children.

Day 11: Who Discovered Down Syndrome?

Down Syndrome Awareness Month - Day 11

Who discovered Down syndrome?

In 1866, British physician John Langdon Down first described Down syndrome as "Mongolism". Down published an essay in which he described a set of children with common features who were distinct from other children with mental disabilities. At the time, he was superintendent of an asylum for children with mental disabilities in Surrey, England. Down based his term, Mongolism, on the notion that these children looked like people from Mongolia, who were thought then to have an arrested development.

In the 1960's, this ethnic insult came under fire by Asian genetic researched and the term was dropped from scientific use. In the early 1970's that the term Down syndrome became accepted.

Petrus Johannes Waardenburg, a Dutch ophthalmologist and geneticist, and Dr. Adrien Bleyer were the first people known to have speculated that Down syndrome might be due to chromosomal abnormalities.

In 1959, Jerome Lejeune, a French pediatrician and geneticist, and Patricia Jacobs, a British geneticist, independently determined the cause of Down syndrome to be trisomy of the 21st chromosome. Cases of Down syndrome due to translocation and mosaicism were described over the next three years.

Monday, October 10, 2016

Day 10: Health Issues Associated with Down Syndrome

Down Syndrome Awareness Month - Day 10

What health issues are commonly associated with Down syndrome?

Here are ten health issues associated with Down syndrome:

  • Heart defects - As mentioned in a previous post, about half of the children with Down syndrome are born with some type of heart defect. 
  • Leukemia - Children with Down syndrome are many times more likely to develop either acute lymphocytic leukemia (ALL) or acute myeloid leukemia (AML) than other children are, with an overall risk of about 2-3%.
  • Infectious diseases - Since there are abnormalities in the immune systems of people with Down syndrome, they're more at risk of infectious diseases, such as pneumonia.
  • Dementia - People with Down syndrome have an increased risk of dementia - signs and symptoms may begin around age 50. Those who have dementia also have a higher rate of seizures. A person with Down syndrome also has an increased risk of developing Alzheimer's disease.
  • Sleep apnea - Because of soft tissue and skeletal changes that lead to the obstruction of their airways, children and adults with Down syndrome are at a greater risk of obstructive sleep apnea.
  • Obesity - Research suggests that both the thyroid and a lower metabolic rate contribute to people with Down syndrome being overweight. This means that they burn fewer calories overall and need to exercise more to burn off the same number of calories.
  • Vision problem - More than 60% of children with Down syndrome have vision problems, including cataracts. The risk of cataract increases with age. Other eye problems include nearnearsightedness, "crossed" eyes (strabismus), and rapid, involuntary eye movements. 
  • Hearing loss - About 70-75% of children with Down syndrome have some hearing loss.
  • Hypothyroidism - The thyroid is a gland that makes hormones the body uses to regulate things such as temperature and energy. Hypothyroidism is when the thyroid produces little to no thyroid hormone.
  • Hypotonia - Poor muscle tone and low strength contribute to the delays our children have in rolling over, sitting up, crawling, and walking. Despite these delays, children with Down syndrome can learn to participate in physical activities like other children.

Octavia and our dog, Zenobia

Sunday, October 9, 2016

Day 9: Successful People with Down Syndrome

Day 9 - Successful People with Down syndrome

This list does not include all of the successful people with Down syndrome but does highlight several different categories people with Down syndrome have been successful in. These men and women show that, with enough hard work and determination, anything is possible.

Angela Bachiller - In 2013 in Valladolid, Spain, Angela became the first person with Down syndrome ever to be elected councilwoman.
Bernadette Resha - Bernadette is a painter, public speaker, and violinist. Her works of art have been features on television shows, in music videos, commercials, and magazines.
Chris Burke - Chris is an actor and folk singer best known for his role as Corky in Life Goes On
Christian Royal - Christian is a highly talented pottery maker. He sells beautiful dishes and bowls online and at an art gallery in South Carolina.
Eli Reimer - Eli became the first person with Down syndrome to reach the base camp of Mount Everest.
Gigi Cunningham - Gigi is another model with Down syndrome. Gigi is using her talent to raise awareness for the Down syndrome community and to put an end to bullying.
Jamie Brewer - Jamie is an actress who appeared on American Horror Story: Murder House and American Horror Story: Coven.
Karen Gaffney - Karen is a disability rights campaigner and the first living person with Down syndrome to receive an honorary doctorate degree.
Katie Meade - Katie is the spokesmodel for the new haircare line Beauty & Pin-Ups. According to People magazine, Katie is the first woman with Down syndrome to be features as the face of a beauty campaign.
Luke Zimmerman - Luke is best known for starring in The Secret Life of the American Teenager.
Madeline Stuart - Madeline is a model from Australia who travels around the world modeling and has even participated in New York Fashion Week.
Melissa Reilly - Melissa is a motivational speaker, travels to represent the Down syndrome community internationally, and is a Special Olympian who brings home gold medals in skiing, cycling, and swimming. She also interns for a Massachusetts state senator and tutors preschool students with Down syndrome in math and reading.
Megan McCormick - Megan is the first person with Down syndrome to graduate with honors from a technical college in the United States. Megan earned her degree in education and was at the top of her class.
Sujeet Desai - Sujeet is a musician and plays seven instruments. He graduated from high school with a 4.3 grade point average and went on to graduate from the Berkshire Hills Music Academy. Sujeet has received numerous awards and was even featured in the Wall Street Journal and Time Magazine as well as on 20/20 and the Oprah Winfrey Show.
Tim Harris - Tim is the owner of the now-closed Tim's Place, a popular restaurant in Albuquerque, NM.

Saturday, October 8, 2016

Day 8: Support Networks

Day 8 - Support Networks

MYTH: Parents will not find community support in bringing up their child with Down syndrome.

TRUTH: Almost every community in the United States has parents support groups and other community organizations directly involved in providing services to families of individuals with Down syndrome. These organizations provide programs such as: new parent support and education, family meetings, sibling and grandparent support, recreational activities, lending libraries, helplines, regional conferences, partnerships with Down syndrome clinics, training for medical professionals and educators, advocacy, and buddy walks. To find a support group in your area, visit this page.

Today was our local organization's Step Up for Down Syndrome walk. All together, over $130,000 was raised! In addition for raising funds for our location organization, which does so much for the families with children with Down syndrome, this event is a great way to network with other families who are raising a child with Down syndrome.

I got to meet another family who adopted from Armenia! Their son came home a few months after Octavia came home and was in the same orphanage (small world). It's so wonderful to meet other families who are raising a loved one with Down syndrome, especially ones who have been adopted. Adopted children come with their own special needs in addition to their medical diagnoses. Raising a child with Down syndrome is different for all families but for many who have adopted a child with Down syndrome out of choice, the path tends to feel different from the path of those families whose biological child has Down syndrome.

Octavia and Sam meet.


Friday, October 7, 2016

Day 7: People First Language

Day 7 - People First Language

"That Down syndrome boy."
"That girl has Down syndrome."

Which one is correct? The second one, "That girl has Down syndrome." Always put the person before the syndrome. People "have" Down syndrome, they do not "suffer from" it. Those with disabilities are not defined by their disabilities, which is why their disability should not come first.

This is Octavia. Octavia is smart, funny, loving, sweet, and kind. Octavia has Down syndrome. Octavia is not Down syndrome.

Also, the term "intellectual disability" has replaced "mental retardation" as the appropriate term. Many advocates for those with special needs condemn the use of the word "retard" or "retarded" in any derogatory context. Using either of this words, in any context, is hurtful and suggests that people with disabilities are not competent.

Thursday, October 6, 2016

Day 6: Down Syndrome and Families

Day 6 - How will having a child with Down syndrome affect my family?

According to a study published by Dr. Brian Skotko in 2011 (found here):

  • 99% of parents/guardians said they loved their child with Down syndrome
  • 79% felt their outlook on life was more positive because of their child
  • 5% felt embarrassed by their child
  • 4% regretted having their child
Of siblings age 12 and older:
  • 94% expressed feelings of pride about their sibling
  • 7% felt embarrassed by their sibling
  • 4% would "trade their sibling in" for another
  • 88% said they felt they were better people because of their sibling with Down syndrome
Of siblings age 9-11:
  • 97% said they loved their sibling
  • 90% felt their friends are comfortable around their sibling
People with Down syndrome:
  • 99% said they were happy with their lives
  • 97% liked who they are
  • 96% liked how they look
  • 86% indicated they could make friends easily
  • 4% expressed sadness about their life
The parents surveyed reported learning a variety of life lessons, the top five being personal self-growth, patience, acceptance/respect, love, joy.

What, exactly, does this show? It shows that raising a person with Down syndrome is a largely positive experience and people with Down syndrome are happy with their lives. Love them, value them. Your life will change immensely (for the better) because of your child.

Wednesday, October 5, 2016

Days 3, 4, 5: Why Do I Advocate, Down Syndrome Occurrence, and Life Expectancy

Day 3 - Why am I an advocate for those with Down syndrome?

On Monday, I didn't have a chance to write a post on my blog but I did write a Facebook post related to this video from BBC Two. I was going to wait to answer the harder questions but the video came across my Facebook page and I felt compelled to write about it.

This video is why I advocate for individuals with Down syndrome. Places like Iceland already have a 100% termination rate for individuals with Down syndrome. Other countries in Europe are on track for the same.

For what? Why? What is really so bad about Down syndrome? Sure, getting a prenatal diagnosis about how your child will be "different" (aren't we all?) might be scary but these are people! They may not grow up to be a doctor or a lawyer but EVERYONE has a role to fill in society. I'm never going to be a doctor or lawyer, should my life be terminated? Where do we draw the line? How do we determine whose life has value?

Before you decide to terminate your child's life because he or she MAY have Down syndrome, I challenge you to meet someone with the disorder and learn what their life is really like. I promise, it really isn't as scary as some medical professionals make it out to be.

There are special challenges in raising a child with Down syndrome, I will not deny that, but there are always going to be challenges in life, regardless of what you do. Along with the challenges, Octavia brings me immense joy She always knows how to make me smile.

Day 4 - How frequently does Down syndrome occur?

Down syndrome is the most commonly occurring chromosomal condition. One in every 691 babies in the US is born with Down syndrome, which equates to about 6,000 births per year. There are currently about 400,000 people with Down syndrome living in the United States.

Day 5 - What is the life expectancy for a person with Down syndrome?

In 1960, the life expectancy for a person with Down syndrome was 10 years. In 1983, it was 25 years. Today, it's 60 years. 60 years. It's amazing what modern technology has done not only for people with Down syndrome but people as a whole!

Sunday, October 2, 2016

Day 2: Common Traits of Down Syndrome

Day 2 - What are the common traits of Down syndrome?

Every person with Down syndrome is a unique individual and may possess these characteristics to different degrees or not at all. Typical characteristics include:

  • A flattened face, especially the bridge of the nose
  • Almond-shaped eyes that slant up
  • Small stature, ears, hands, and feet
  • A single line across the palm of the hand (Simian crease/Palmar Crease)
  • Low muscle tone (hypotonia)
  • Cognitive delays, usually mild to moderate
Children with Down syndrome are at a higher risk for congenital heart disease. The incidence of CHD in the general population is .8 percent but in children with Down syndrome, it's 40-60 percent.

Some heart defects can be left alone with careful monitoring while other require surgery to correct the problem. The most common defects in children with Down syndrome are Atrioventricular Septal Defects (AVSD) -- most common, Ventricular Septal Defects (VSD), Atrial Septal Defects, Patent Ductus Arteriosus, and Tetralogy of Fallot. Octavia was diagnosed with an Atrial Septal Defect (ASD) that is being monitored by her cardiologist.

Hypotonia causes most children with Down syndrome to take longer to learn to walk, talk, and eat the same foods other children their age eat.

Saturday, October 1, 2016

Down Syndrome Awareness Month

October is Down syndrome acceptance/awareness month. In honor of this month, I am going to try and do daily posts with facts, myths dispelled, and stories featuring people with Down syndrome.

Day 1 - What is Down syndrome?

Normally, a person has 46 chromosomes. In a person with Down syndrome, they have 47 chromosomes, the extra chromosome comes from a third copy of the 21st chromosome, thus the name trisomy 21 (aka Down syndrome).

There are three types of Down syndrome: trisomy 21 (nondisjunction), mosaicism, and translocation.

Trisomy 21 is the most common type of DS. Prior to or at conception, a pair of 21st chromosomes in either the sperm of the egg fails to separate. As the embryo develops, the extra chromosome is replicated in every cell of the body. 

Translocation is the second most common type of DS, occurring in about 4% of people with DS. With translocation, the number of chromosomes in the cells remains 46, but an additional full or partial copy of chromosome 21 attaches to another chromosome, usually chromosome 14. The presence of the extra full or partial chromosome 21 causes the characteristics of Down syndrome.

Mosaic Down syndrome is the most rare, occurring in only about 1% of people with DS. Mosaicism is diagnosed when there is a mixture of two types of cells, some containing the usual 46 chromosomes and some containing 47. Those cells with 47 chromosomes contain an extra chromosome 21.

Here's my little cutie with t21 chilling on a firetruck!