Digging Deeper Into 31 Facts for Down Syndrome Awareness Month

For Down syndrome awareness month, I wanted to dig a little deeper into the more common facts that I've often read about Down syndrome, and also share a few less common facts. If you have more than a few minutes, grab a cup of coffee (or two) and check out all 31. I'm not kidding when I said I dug a little deeper - this is NOT a quick read! If you are short on time and just want the quick facts, click here.

I hope you learn something new -- just like I did preparing it all! Happy Reading!

From the National Down Syndrome Society, "In every cell in the human body there is a nucleus, where genetic material is stored in genes. Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes. Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21."

Augie has a full extra copy of chromosome 21, for a total of 47 chromosomes. You can see this on his karyotype, which is a visual representation of the chromosomes present in one of Augie's cells. Pretty cool!

Did you know there are three different chromosomal variations that can occur with the 21st chromosome?

Complete trisomy 21 is the most common. Ordinarily, when an egg and a sperm are joined at conception, a single cell is created with a total of 46 chromosomes. As the cells divide, each cell contains the same 46 chromosomes. But in the case of a complete trisomy 21, an anomaly during the formation of the egg or the sperm results in either one having an extra chromosome. So after the egg and sperm unite, the resulting cells will have three copies of chromosome 21. The complete extra copy of chromosome 21 is in all of the person's cells—or a complete trisomy. Augie has complete trisomy 21. His extra 21st chromosome is in every cell of his body!

Mosaic trisomy 21 occurs when the extra 21st chromosome is in some but not all of a person's cells. Just like the mosaic style of art made up of different colors, a person with mosaic trisomy 21 has more than one type of chromosomal makeup. It could occur early in development when some cells lose an extra chromosome 21 that was present at conception. Or, it could occur as cells begin to replicate and divide after a normal egg and sperm unite. Only about 1% of people with Down syndrome have mosaic trisomy 21; it is rare but we have several friends with it.

In translocation trisomy 21, only part of an extra 21st chromosome is in the cells. The extra part of the chromosome gets attached to another chromosome and gets transmitted into other cells as the cells divide. The result is that instead of having three separate copies of chromosome 21, a person with translocation trisomy 21 has two independent 21st chromosomes and another copy of the 21st chromosome that is attached to a separate chromosome - and it could be any of them! Isn't genetics fascinating?

Source: https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html

There is not a "spectrum" of Down syndrome. People cannot have mild of severe Down syndrome. You either have it or you don't. A person's genetic makeup is far more complex than an extra 21st chromosome. Ability, and so many other things, is not dependent on the condition, but rather the individual.

This is true regardless of the type of Down syndrome a person may have. Mosaic Down syndrome does not mean that a person has a "mild" form of Down syndrome. It only means that a fewer percentage of their cells have an extra chromosome 21, but there is no way to predict the impact that this will have on a person's development, health issues, abilities, talents, and challenges.

There are NO two people with Down syndrome who are just alike. There is not a distinct group of "high-functioning" or "low-functioning" people.

I do not like or agree with the term "high-functioning".

"High" compared to what?

Functioning in what way(s)?

People with Down syndrome are just people. Each with a diverse set of physical features, strengths, personality, abilities, challenges, experiences, interests, successes, and failures. Amazingly, spectacularly, remarkably UNIQUE individuals who just happen to have an extra 21st chromosome.

Down syndrome is a part of Augie - and we celebrate that. It certainly impacts who he is and some of the challenges he has to overcome. But we also know (and love) that Augie is just Augie. He has his own strengths and challenges, a super sweet and determined personality, and he looks an awful lot like his big brother.

Source: https://www.ellenstumbo.com/31-facts-about-down-syndrome/

We prefer person-first language.

That means, we don't say "Down syndrome child" or "Down child". We put the person before the diagnosis. We say, a "child with Down syndrome."

Why does this matter? Because Down syndrome is just one attribute of a person, it doesn't define their whole being.

To read more about why we use person-first language, click here.

I recently had the opportunity to hear Nancy Gianni, the founder of Gigi’s playhouse, speak. One thing she said really stood out to me. She explained that when you are a new or expectant mom of a typically-developing child, no one talks about the various medical issues that *could* happen in your baby’s lifetime. But when you are a new or expectant mom of baby with Down syndrome you are told everything that could possibly happen or has ever happened to a person with Down syndrome.

TRUTH.

This. Right. Here.

THIS is why I had severe anxiety throughout my entire pregnancy and early on in Augie’s life. The statistics. The list of potential health issues. The worry. The fear.

WHY? Because compared to the general population, people with Down syndrome have an increased risk for certain health problems. Mainly heart defects, respiratory infections, vision and hearing problems, leukemia, thyroid issues, and gut problems. The list really IS long. And it has made for some really hard days for us and many other families. I will go into more detail on the health issues next.

But first, there are a few things worth mentioning.

First, not all children with Down syndrome have an extensive list of health issues. Although the likelihood is increased, there are people who have very few, if any, medical issues. We have a friend who is 2.5 years old and her biggest health issue to date has been the common cold.

Second, is that most of the health issues can be successfully treated or managed. Augie has an impressive list of health issues on his medical chart. He had two major surgeries and numerous hospital visits in his first year of life. It was hard. But he proved just how strong and resilient he is. And today, he is a healthy little boy that is growing and developing wonderfully. I’m not sure how to change the conversation for new and expectant moms so that facts are provided but without instilling all the fear. Possibly focusing on the two points above is a start?

Here are some of the most common health and medical issues associated with Down syndrome:

  • Heart defects: Almost 50% of babies with Down syndrome have a congenital heart defect. Augie has a complete AVSD and was in heart failure by three months old. He had emergency open heart surgery and has been doing amazingly well since then.

  • Respiratory infections: Children with Down syndrome are prone to respiratory infections. Augie takes an inhaled steroid daily due to chronic respiratory issues.

  • Vision problems: More than 60% of children with Down syndrome have vision problems. Augie has a strabismus, which is a misalignment of his eyes. He will have surgery in the near future to correct.

  • Hearing Loss: About 70-75% of children with Down syndrome have some hearing loss. Augie persistently has fluid in his ears that is causing mild hearing loss. He will get tubes in his ears soon.

  • Leukemia: People with Down syndrome are 20 times more likely to develop leukemia. It was suspected in utero that Augie had a fetal form of leukemia. We learned at birth this was not correct, and we pray every day that he never develops it.

  • Gut problems: Constipation, diarrhea and indigestion are all common with Down syndrome. And sometimes, more serious problems like celiac disease, reflux and Hirschsprung’s disease. Augie has Hirschsprung’s disease, and had surgery to correct his bowel at 1 month old. He also had severe reflux and we were headed down the path to another surgery but changing from formula to a blended diet has been our answer to prayer.

  • Hypothyroidism: About 10% of people with Down syndrome have problems with their thyroid gland. There are no known issues with Augie’s thyroid.

You'd never guess his medical history was so complex if you saw him today!

Source: https://www.nichd.nih.gov/health/topics/down/conditioninfo/Pages/associated.aspx

“But what will happen when he gets older?”

It is a question often asked in regards to the Down syndrome community. It is even a question I’ve asked myself. I don’t know what Augie will be like when he gets older. I don’t know if he will go to college. I don’t know if he will get married. I don’t know what type of job he will have. I don’t know if he will live with us, live on his own, or in assisted living. I don’t know what his hopes and dreams will be.

I just don’t know.

And that is ok.

Augie is only 19 months old. My personal experience of raising a child with Down syndrome is limited to the last 19 months. I can’t tell you what he will be like when he is 30. I can’t even tell you what he will be doing next week - he is always surprising me in that way!

I also can’t tell you any of the above for my 3 year old son, Beckett, and my 7 year old daughter, Madi. I don’t know what life will bring for them and for us in the future. I only know that life often brings with it some unexpected adventures. It’s a good thing we are a bit adventurous.

While our own personal experience is limited, I have several connections to adults with Down syndrome and/or their families. There are also blogs out there that focus on young adults and adults with Down syndrome — either from a parent perspective OR a self-advocate! It gives me a lot of hope for my son’s future. Be sure to check out a few of them for yourself!

If I had to guess, I’d say Augie will still be pretty darn amazing as an adult - regardless of his education level, marital status, and level of independence. He is my social butterfly. He is super determined. And constantly on the move. How will this translate into his adult-hood? I have no idea - but it will be exciting to watch it happen. For now, we focus on the present. We live in the moment. Tomorrow will come when tomorrow comes.

Although there are some common physical characteristics that people with Down syndrome may share, you will also notice many physical characteristics that resemble their own family. After all, their genetic makeup up looks more like their own family than anyone else!

Augie's bright blue eyes, blonde hair, full cheeks, button nose, and cute little dimple are all characteristics from our family. He gets that adorable dimple and blonde hair from me. He gets those bright blue eyes and kissable cheeks from his daddy. The shape of his eyes and flat nasal bridge are characteristics that he shares with so many of our friends with Down syndrome. It's a beautiful thing. 😍 Read more about how Augie changed my perspective on diversity here.

Most adults and older children with Down syndrome understand that they have Down syndrome. I observed this first hand today as I sat across from a young woman with Down syndrome during a strategy planning session for our local Down syndrome association. The young woman is a self-advocate on our Board of Directors. Although I do not know if she fully understands what it means to have Down syndrome, she quite certainly understands that it is a part of who she is. She even referenced it in her comments during our discussion. But what is more noteworthy than the fact that she knows she has Down syndrome, is that she brings a unique and powerful perspective to our board discussions. Her opinions and ideas are extremely valuable and it is a privilege for me to serve on the board with her.

Source: https://www.ellenstumbo.com/31-facts-about-down-syndrome/

Individuals with Down syndrome are beautiful, both on the inside and outside. There's not much more that can be said about this, and a picture is always worth a thousand words.

Adapted from https://www.ellenstumbo.com/31-facts-about-down-syndrome/

Several years ago, a study was conducted of people with Down syndrome, ages 12 and older, to better understand their self-perception. Among the 284 people surveyed,

  • 99% indicated they were happy with their lives

  • 97% liked who they are

  • 96% liked how they look

  • 99% expressed love for their families

  • 86% felt they could make friends easily (and those with difficulties mostly had isolating living situations).

In the qualitative analysis, people with Down syndrome encouraged parents to love their babies with DS, mentioning that their own lives were good. They further encouraged healthcare professionals to value them, emphasizing that they share similar hopes and dreams as people without Down syndrome. The study was conducted by Dr. Brian Skotko, Sue Levine and Dr. Rick Goldstein. Their hope was that this type of information would be shared with new and expectant parents of children with Down syndrome. In 2016, my husband and I were those parents. The results of this study were shared with us as we sat across from our genetics counselor. In a time that was filled with uncertainty of what the future would hold, the fact that an overwhelming majority of people with DS indicated that they live happy and fulfilling lives was reassuring for us. Source: Skotko BG, Levine SP, Goldstein R. 2011. Self-perceptions from people with Down syndrome. Am J Med Genet Part A 155:2360–2369.

The conversation usually goes something like,

Me: "My son has Down syndrome."

Other person: "Aw, they are always so happy!"

...but "he" is actually NOT always happy. Generally speaking, he IS a happy boy. His temperament is calm and cool, and I love that about him. Generally speaking, I'm also pretty happy. A lot of people are. But, when Augie is hungry, sleepy, bored, upset over something his brother or sister did, or he simply doesn't get what he wants . . . yeah, he's not happy then. No person is "always so happy." He already shows a full range of emotions - excitement, happiness, sadness, anger, fear, curiosity, and more. And as he grows, this will only continue to develop.

It's best to avoid generalizations about any group of people, and people with Down syndrome are no exception! Give them room to show you who they are without any preconceived assumptions. And perhaps that starts by asking a question, versus making a statement, if you find yourself in a similar conversation to the one above.

It could go something like...

Me: "My son has Down syndrome."

Other person: "I'd love to hear more! Can you tell me about him?"

Because you know I will! 😆

It was meant to be that I became friends with Nadia. We have many mutual connections and so much in common, and yet, until I was pregnant with Augie, we had never met. We lived in the same town, attended the same church, shopped at the same stores, visited the same parks . . . but we were strangers to each other.

It was our connection to Down syndrome that ultimately brought us together two years ago. Our first exchange was via email. Nadia congratulated me on my pregnancy,shared about her daughter (Alyssa) and simply stated she would love to get together. And so we did! Our relationship has grown further and deeper in many ways since exchanging emails two years ago. She is one of my greatest friends and I love living life with her.

And it's not just Nadia. One of the most wonderful things about being a parent to a child with Down syndrome is the remarkable people you end up meeting. There are several other moms (and dads) locally that I have become good friends with, as well as my tribe of fellow rockin' Down syndrome Diagnosis Network (DSDN) moms. My heart just warms thinking about all of them!

Friendships are usually born over a common interest. And sometimes, that happens unexpectedly when you have a baby with Down Syndrome. I never knew I wanted a child with Down Syndrome until I had Augie. And I never knew I needed these women in my life until they were here. Now, I can't imagine life any different. I have Augie...and lifelong friends.

Read more about the unexpected friendships that followed Augie's Down syndrome diagnosis here.

To my tribe...I love you all!

The likelihood of having a baby with Down syndrome increases with maternal age,

  • From 1 in 1,200 at age 25,

  • to 1 in 900 at age 30,

  • to 1 in 350 at age 35,

  • to 1 in 100 at age 40 (1%)

Notice I did not say the "risk" increases, which has a negative connotation. The preferred language is "likelihood" or "chance", which is more neutral, still stating the facts without bringing negativity into the conversation. Many expectant parents still hear the term "risk".

I was 33 at conception, and 34 at delivery. My chances of having a child with Down syndrome were 1 in 600. I think I won the lottery.

Source: https://www.ndss.org/about-down-syndrome/down-syndrome/

According to the National Down Syndrome Society (NDSS), approximately ONE in 700 babies in the United Stated are born with Down syndrome.​​​​​​​​​​​​​​​​​​​ This means that about 5000 babies with Down syndrome are being born every year. According to Brian Skotko's research, the estimated number of people with Down syndrome living in the U.S. has grown from 49,923 in 1950 to 206,366 in 2010.

* Brian Skotko is a board-certified medical genecist and the co-director of the Down syndrome Program at Massuchusetts General Hospital. His extensive research on Down syndrome has been widely shared.

A majority of babies with Down syndrome are actually born to women UNDER 35 simply because women under 35 are having more babies. The NDSS states this percentage to be 80%, but I was curious as to what it looked like in my own circles. In a recent poll taken in one of my Down syndrome networks (483 respondents), the breakdown of maternal age, at delivery, was as follows:

  • 25 and Under: 7.2%

  • 26 - 30: 20.3%

  • 31 - 34: 30.2%

  • 35 - 40: 34.4%

  • Over 40: 7.9%

Which means, approximately 58% of the women who responded were under 35 at time of delivery. Keep in mind, Down syndrome occurs at conception, so all of the women were younger at the time and would have likely increased the percentage.

Please don't use the r-word. EVER.

From r-word.org: When they were originally introduced, the terms “mental retardation” or “mentally retarded” were medical terms with a specifically clinical connotation; however, the pejorative forms, “retard” and “retarded” have been used widely in today’s society to degrade and insult people with intellectual disabilities. Additionally, when “retard” and “retarded” are used as synonyms for “dumb” or “stupid” by people without disabilities, it only reinforces painful stereotypes of people with intellectual disabilities being less valued members of humanity.

For more information, and to take the pledge to never use the r-word again, go to www.r-word.org.

Due to medical and research advances, the average life expectancy of an individual with Down syndrome has increased from:

  • 12 years of age in the 1940s,

  • to 25 years of age in the early 1980s,

  • to 60 years of age today.

If this trend continues, Augie may live to be 120!

All kidding aside, Augie would likely not have survived if he were born just 40 years ago due to his complex heart and intestinal issues. Although I do not actually expect him to live to be 120, I do believe there is a good chance that he will live to be well into his 60s, 70s or beyond.

Adapted from Global Down Syndrome Foundation

It is important to understand some of the challenges that can arise for adults with Down syndrome as they age.

According to NDSS, adults with Down syndrome experience “accelerated aging,” meaning that they experience certain conditions and physical features that are common to typically aging adults at an earlier age than the general population. The experience of accelerated aging can be seen medically, physically and functionally.

Medical issues can include increased problems with hearing, vision, thyroid, and sleep apnea, as well as osteoarthritis, osteoporosis, cervical spine concerns, celiac disease and Alzheimer's disease. The occurrence of Alzheimer’s disease is thought to be the result of an over-production of the APP gene found in the 21st chromosome, which produces a specific protein called amyloid precursor protein (APP). Too much APP protein leads to a buildup of protein clumps called beta-amyloid plaques in the brain.

One hundred percent of adults with Down syndrome will have detectable plaque by age 40 that has been developing since childhood. However, not everyone will develop Alzheimer’s disease or another type of dementia. Estimates suggest that, today, approximately 50% of adults with Down syndrome experience Alzheimer’s disease, with symptoms beginning in their 50s or 60s. (Source: https://www.nia.nih.gov/health/alzheimers-disease-people-down-syndrome)

Thankfully, there are many organizations dedicating time and money to research these challenges and how to improve quality of life alongside longevity of life for adults with DS. Here are just a few:

Muscle tone is the state of muscle tension inside a muscle when it is at rest. It is controlled by the brain at an unconscious level and whether a child has low, high, or normal tone is determined at birth.

Normal tone means that there is the right amount of “tension” inside the muscle at rest, and the muscle is inherently able to contract on command. Hypotonia, or low tone, means there is not enough tension in the muscle when it is at rest. The muscle may have a floppy feel to it, and there is a lack of control when it is used. Low tone is common in individuals with Down syndrome, which can affect postural control and stability, mobility, breathing, eating and speech.

Keep in mind, muscle tone is on a continuum – so a person can have normal muscle tone that is a bit on the low side.

Muscle tone is not the same as muscle strength. Strength is the muscle’s ability to actively contract and create a force to respond to resistance (such as pulling, pushing, lifting, etc). While muscle tone cannot be changed, strength can be. Increasing muscle strength allows the body to compensate for low tone, and is often the focus of physical and occupational therapy in kids with Down syndrome.

Augie has mild hypotonia. It's been used to explain many challenges for him including his inability to swallow, respiratory issues, and constipation. He does not feel "floppy", but he does still need to work a bit harder to get his muscles to respond the way he wants them to. He always figures out a way to do it.

Source: http://www.ot-mom-learning-activities.com/muscle-tone.html

Look at your hand. Do you see the creases on your palm? These are called palmar flexion creases, and you most likely have three. The two major horizontal creases are described in palmistry as your heart and head lines. Medically speaking, they help your hand’s skin stretch and squeeze.