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?
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.
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.
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!
“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.
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.
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.
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.
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.
About 50% of people with Down syndrome only have a single palmar crease. Although it appears that only one line exists — a head line OR a heart line — in fact both of the lines have been fused together and run exactly the same course. In palmistry this means that logic and emotions are very closely linked. 💛💙
Here is Augie and his single palmar crease. He was holding his hand up to give me a high five.
Children with Down syndrome go through all the same milestones as typically developing children, it just may take them a little longer to achieve some of those milestones. But really, all kids develop at their own pace and we celebrate the milestones whenever they are achieved! Here is an average range of milestone development for kids with Down syndrome and to typically developing kids (from the National Down Syndrome Society), as well as specifics for Augie.
Range for Children with Down Syndrome: 6 to 30 Months
Typical Range: 5 to 9 months
Augie: Could sit for a few seconds at a time @ 7 months and really well by 8 months
Range for Children with Down Syndrome: 8 to 22 months
Typical Range: 6 to 12 months
Augie: Started army crawling at 9 months
Range for Children with Down Syndrome: 1 to 3.25 years
Typical Range: 8 to 17 months
Augie: Unassisted standing at 18 months
Range for Children with Down Syndrome: 1 to 4 years
Typical Range: 9 to 18 months
Augie: TBD - SO close at 20 months, but not quite there!
Range for Children with Down Syndrome: 1 to 4 years
Typical Range: 1 to 3 years
Augie: About 14 months. He can say 4 words now, but he does not use any words without prompting.
Range for Children with Down Syndrome: 2 to 7.5 years
Typical Range: 15 to 32 months
First Sign (I couldn't find any developmental milestones for sign language, which is an important communication tool for Augie, so I'll just share his progress.)
Augie: 9 months, and 14 Signs by 19 months
Range for Children with Down Syndrome: 1 to 5.5 months
Typical Range: 1 to 3 months
Augie: 2.5 months
Range for Children with Down Syndrome: 10 to 24 months
Typical Range: 7 to 14 months
Augie: Could self-feed by 10 months (could pick up food and put in mouth) but struggled with swallowing; and respiratory illnesses caused us to stop all feeding by mouth at that time. Now, at 20 months he can still effectively self-feed but also still struggles with his swallow (he doesn't move food around his mouth well and then gags).
Drinks from Cup Unassisted
Range for Children with Down Syndrome: 12 to 32 months
Typical Range: 9 to 17 months
Augie: Could drink from a straw at 10 months but again had to stop because of respiratory illnesses.
Range for Children with Down Syndrome: 13 to 39 months
Typical Range: 12-20 months
Augie: 15 months
Range for Children with Down Syndrome: 2 to 7 years
Typical Range: 16-42 months
Dresses Self Unassisted
Range for Children with Down Syndrome: 3.5 to 8.5 years
Typical Range: 3.25 to 5 years
Augie has mastered SO many things in his 19 months. When I see how hard he works to accomplish something that may be easy for my other two kids, it just makes me so darn proud! He amazes me with his tenacity and perseverance. He will do great things in his life, regardless of when he first smiled, first walked, or first talked.
Adapted from National Down Syndrome Society
Down syndrome is NOT ...
A burden An affliction A disease A problem An error
These terms have all been used to describe Down syndrome. You may find these words in textbooks. You may even hear them from a medical professional. And you most definitely will see them in the comments section on articles talking about prenatal testing. These words have a negative connotation. And let me assure you, they are false.
Yes, there can be challenges for a person with Down syndrome, but every person has particular challenges. And every person also has their own gifts and talents. Augie has Down syndrome. His life is by no means more or less enriched or valued than anyone else. He has intrinsic worth because he is human. And we think he is pretty darn awesome.
When expectant or new parents share that their baby has Down syndrome, do not say "I'm sorry" or "Oh no" or anything along those lines. Although it may be well-intended, it can be hurtful to the parents. And truly, please do not be sorry. We are not sorry. We have a son who we could not imagine loving more. Who has brought us more joy than we could have ever imagined. And who we wouldn't change even if given the choice. New or expectant parents may not yet be to that point yet, but what they need to hear from friends and family is "congratulations" versus "I'm sorry".
Want more suggestions on what to say? Check out this article that offers 10 things to say when a baby is born with Down syndrome. It's worth a read!
Just like ALL kids, each child with Down syndrome learns in a different way and at a different pace. It is up to all of us -- parents, educators, therapists, and friends -- to observe and identify HOW he or she learns. And to then use that to help unlock their potential. Because believe me, it's there and it's HUGE!
Augie is a sponge. He is always observing and continuously soaking up new information. He tries to imitate whatever I do with my hands and mouth. He also sometimes needs a few extra seconds to respond. I have to pause and wait -- without giving him additional cues or input -- to let him process and then respond. I LOVE watching him learn new things. He makes me so proud!
Individuals with Down syndrome have anatomical (structural) and physiological (functional) differences in their mouth and throat that can cause difficulty with feeding, drinking and speech. Structural differences can include a high palatal arch and a small, narrow upper jaw. Physiological differences can include low muscle tone and weak oral facial muscles.
Although these differences can make feeding, drinking and speech more difficult, it does not make it impossible. Many babies with Down syndrome can successfully breast or bottle feed. And even those babies that struggle with feeding can grow into great eaters over time with hard work and, often, the help of a speech-language pathologist.
Speech therapy can begin in infancy and help develop oral motor skills that are used for sucking, swallowing, feeding, eating, drinking and, later on, speaking.
Augie has been in speech therapy since he was just a couple of months old. We’ve worked with several really great resources over the last 18+ months, and we’ve learned so much! Augie works hard with his eating but he still has a long ways to go. This is his biggest challenge. He gets 100% of his nutrition via his g-tube (feeding tube) because he is not proficient (or interested) enough to eat by mouth today. He is also very independent and a bit stubborn these days and does not want any help with feeding, even though he can’t yet do it himself. I have NO doubt that Augie will eventually eat by mouth, and we work hard every day to make progress toward that goal.
What he lacks in feeding, he makes up for in communication. He currently knows 14 signs proficiently and several more are emerging. He says 4 simple words and is starting to repeat others on command.
Adapted from National Down Syndrome Congress
In a survey of more than 2,000 parents to a child with Down syndrome, 79% felt their outlook on life was more positive because of their child.
The responses to the open-ended questions on life lessons learned offer more perspective:
“I’ve learned to live more in the present and worry less about the future.”
“Life is all about attitude and perspective. Sometimes the people we think need the most help are actually the ones providing … help to the rest of us.”
“I’ve redefined the way I measure success in my life. It’s not base on material things, money or power. It is based n family happiness, takin care of each other…”
“My definition of normal has changed.”
“I look at people with less prejudice, but see the potential in everyone.”
“I’ve learned the good lessons of patience and that its rewards are a smile — and that is always enough.”
“All people have something to offer.”
“Often the sweetest love comes from those that depend on us so much and cause us a little extra work and worry.”
“Our son is the greatest joy and motivation of our lives.”
“It’s amazing how I can feel such joy and elation even in the midst of harder frustrating times - he just makes it worth it.”
WOW! As a parent to a child with Down syndrome, I wholeheartedly agree with all of these statements.
I do not want to gloss over the fact that there are very real struggles and challenges, especially for families who’s child has complex medical or behavioral issues. But, I agree with the many families that say their child with Down syndrome brings them joy and many rewards, even with the struggles and challenges that may accompany this journey.
Each of my kids has taught me so much. Being their mom is my greatest honor. Since having Augie, I have learned to slow-down and savor the simple moments, to speak up, to be more accepting, to be more generous and kind, and to seek joy in all things. He truly makes me a better human.
Source: Skotko BG, Levine SP, Goldstein R. 2011. Having a Son or Daughter with Down syndrome: Perspectives from Mothers and Fathers. Am J Med Genet Part A 155:2335–2347.
A few statistics on live births and elective terminations of babies with Down syndrome:
In 2011 in the USA, estimates show there were 32% fewer babies with Down syndrome than could have been born due to elective terminations.
Actual live births decreased between 2006 to 2011, even though models suggest the number should have increased due to older women having more babies.
The number of babies born with DS per every 10,000 babies in the general population also decreased indicating that while more babies were being born — fewer were being born with Down syndrome.
The actual % of pregnancies terminated due to Down syndrome is unknown, but estimates have shown the number to be 67% or higher.
Stop for a moment, and let these numbers sink in. All of these statistics paint a sad picture. One that is marked by fear and uncertainty. This is not a pro-life or pro-choice debate. This is about ensuring accurate, up-to-date information gets in front of women (and families) making the decision about termination. The unfortunate reality is that, today, the decision to terminate a pregnancy due to Down syndrome is sometimes being made with little to NO information on what Down syndrome actually is. And even feeling pressure to abort. THAT is not okay.
Our own diagnosis was delivered in an unbiased and professional manner, and accompanied with helpful information and resources. We felt supported and connected from the start. Not all of my friends had that same experience. Some are still impacted by the negative experience that plagued their diagnosis. THAT is not okay. And it needs to change.
Organizations like the Down Syndrome Diagnosis Network (DSDN), are working hard to create and distribute accurate information to families that receive a Down syndrome diagnosis, as well as offering ongoing support.
To learn more about DSDN, go to: http://www.dsdiagnosisnetwork.org
Source: De Graaf, G., Buckley, F., Dever, J., Skotko, B.G. (2017). Estimation of live birth and population prevalence of Down syndrome in nine U.S. states. American Journal of Medical Genetics, Part A.
On October 28, 2017 we slept in. Well, as best you can sleep in when you have three little kids. We ate breakfast as a family. Augie sat in his high chair next to us getting his food through a feeding tube, but we still “ate” as a family. The kids played while I did housework and Nick did yard work. There was laughter. There was fighting. There were a few tears. We made a Costco run. Augie napped. The boys watched football while Madi and I got our nails done and ran to the grocery store. The kids tried to tie up their daddy. There was more laughter. And a lot of noise. Our house is definitely not a quiet one. We dressed up in our costumes and had fun with neighbors at our annual Halloween party. I came back early with the boys and gave them a bath. They laughed and played. We ate potato soup as a family for dinner. And then we put the kids down for bed. Everyone was exhausted from our busy, fun-filled Saturday.
In a nutshell — this day was quite ordinary. Much like our life.
Having a child with Down syndrome does not mean that life is forever hard or burdened. In many ways, it is the same as bringing home a new baby. Some things stay the same. And some things change. You adjust. You learn a new normal. And life goes on.
There were several adjustments that we needed to make the first year of Augie’s life. He is a medically complex child, and in his first few months of life he required oxygen and constant monitoring of his heart and breathing. He needed two surgeries — intestinal and open heart. We had A LOT of doctor appointments and spent a pretty significant amount of time in the hospital. We had to learn how to feed him through a feeding pump. He had RSV, pneumonia, and norovirus. He had severe reflux and would vomit 15 times a day. Some days were really hard. But time marched on. And as time passed, the number of doctors appointments lessened. The medical equipment needs decreased. We kept adjusting as needed, and at some point we realized that life had balanced itself out again and everything felt quite ordinary.
Although there may be things about our days that do not feel “normal” to others — for us, it is totally normal and totally fine. This “ordinary” life we are living is filled with extraordinary moments that I can’t quite put into words. I just know it’s good. And I wouldn’t trade it for anything.
An inclusive classroom is a general education classroom in which students with and without disabilities learn together. There is a lead teacher, a special education teacher, and possibly an aid all working in the same classroom. There are many variations in how this model can be set up, but the basic premise is that students with disabilities are taught alongside their typically developing peers. All kids can benefit from inclusion. Studies have shown that students with disabilities make tremendous gains in all areas of personal growth and development from being in an inclusive classroom. And, it is a great opportunity for all kids to learn about diversity, kindness, and acceptance.
Alternatively, a self-contained special education classroom is one in which all students in the classroom have disabilities. These classrooms are smaller in size with a special education teacher and a few aids or teaching assistants. The purpose is to give students specialized interventions and support. Many students are still integrated into the general population for certain classes, like art.
The current trend in education is for full inclusion in social and educational settings. However, not all schools have the capacity to support a fully inclusive classroom and give each student the necessary instruction and attention for effective learning. Often, special education budget cuts impact what is even possible. And, the learning environment is just part of the equation — the content and method of instruction is also equally important. Parents need to consider the needs of their child and the capacity of the school to meet those needs in order to make the best decision for education.
We have a few years before we have to navigate the school system with Augie. My current, totally objective, opinion is that anyone would benefit from having Augie in their class as he is the sweetest, smartest, most adorable little boy.
Physical and occupational therapies are used to promote the greatest possible development, independence and productivity for individuals with Down syndrome. This can start in infancy through an early intervention program (ages birth to 3), continue throughout school, and into adulthood as needed.
Physical therapy (PT) focuses on gross motor skills to improve a child’s ability to move and function, as well as to develop correct movement patterns to minimize any long-term orthopedic problems. What this means is that without PT, a child with Down syndrome would likely still learn how to walk, but may do so using a movement pattern that compensates for hypotonia, ligament laxity, and/or shorter limbs.
Occupational therapy (OT) focuses on the development of skills necessary for a child’s independence. These skills include fine motor skills, visual and oral-motor skills, sensory integration activities, self-care skills (like, zipping a jacket), play development, and visual spatial awareness.
Augie has worked with an OT and PT since birth. We’ve had the opportunity to work with a variety of therapists — all of whom have been great. I love the different perspectives and ideas they bring to the table as we work towards different goals for Augie.
Our recent PT goals have been focused on stair climbing, core strength, standing, cruising, and walking. In OT, we’ve been focused on stacking objects, turn taking, imitation, self feeding, core strength, cause-and-effect toys, animal noises, and identifying body parts. It may sound like a lot of work — and sometimes it is — but more often than not, it’s FUN! How could playing in a ball pit NOT be fun?
Every few months we review our therapy plan and goals, and I’m always impressed at how much progress Augie has made. I know that his OT and PT contribute to that progress, but I also know that a lot of the progress is because he is determined and works hard. GO Augie GO!
I want to end with the most important message -- people with Down syndrome are awesome! If you don't personally know someone with Down syndrome -- you should! Even if you don't have someone with Down syndrome in your family, there are several ways you can connect. Check to see if you have a local Down syndrome association or if you have a Gigi's Playhouse nearby. Also, find out where the closest Buddy Walk is to you and consider participating or volunteering next year. Your life will be enriched.
Before I had Augie I was missing out! Truly, my life is better now that I am honored to know SO MANY individuals with Down syndrome and their families. I never knew that I wanted a child with Down syndrome -- and then I had my son. Augie is awesome. He is downright perfect. And I wouldn't want him or this life any other way.
Thanks for reading! Please contact me with any questions, comments or suggestions!