The Problem With Down Syndrome: Part 2

I just want a healthy baby.  I think every single prospective parent must utter these words at some point, but it is worth questioning.

One “common sense”, yet false, assumption is that Down syndrome itself is a state of poor health.  Then, it goes without saying that the ideal state of affairs would be to get rid of Down syndrome.  This is the logic I hear time and time again in news articles, comments, off hand remarks from strangers.

It makes sense, right?  Down syndrome comes from the presence of an extra chromosome.  That extra chromosome causes the body to malfunction, right?  Therefore, Down syndrome IS poor health.  So therefore, our goal should be to make sure no one is born with Down syndrome.  Wait.  Can we slow down?

Discussing medical risk solely in terms of Down syndrome reduces a complex individual into a one-dimensional picture painted with a single color called “extra chromosome”.  Most parents who get a Down syndrome diagnosis find themselves sinking into a black hole of terrifying statistics.  I don’t wish to minimize these, but it isn’t the whole picture.

The third chromosome isn’t an unsightly ink blotch of risk on an otherwise pristine piece of paper.  We all carry risk by virtue of living.   We all carry higher risks by belonging to certain definable groups.   Sickle cell anemia.  Tay Sachs.  Cystic Fibrosis.  Thalassemia.  Familial Mediterranean fever.  It took me ten minutes of an internet search to learn about this handful of medical conditions, all of which are more prevalent in certain genetically related groups.  I’d guess that there are many genetic bases for disease and illness, science just hasn’t found the common thread yet.

Also, why have I never read a single media story mentioning that living with Ds isn’t solely about medical risk?  What about better prognosis after leukemia and seizure disorders, less hardening of the arteries, diabetic blindness, fewer solid tumor cancers, fewer cavities, and lower likelihood of both cerebral palsy and high blood pressure?  Genes do not act in isolation, and I wish there were more balanced attention paid to the fact that Ds is not a disease unto itself, but a genetic existence.  Unusual, sure, but not a disease.

I also wonder what effect the diagnosis in and of itself has on rates of detection of health “problems”.  When we got our diagnosis, we went through months of medical appointments to rule out statistically likely medical issues.  The results?  We have “discovered” some, but are choosing medical intervention for only hypothyroidism.  While the reasons we did all those tests were based on a real risk, I also wonder how much is confirmed simply by looking.  If I had subjected my other children to the same battery of medical screenings and tests, what would we have found?

Again, I’m don’t want to minimize the real health concerns, and I think we need more understanding of what Down syndrome is, not less.  There are clearly differences relating to having three copies of a chromosome.  Still, the mainstream image of Down syndrome being a form of poor health in a way fundamentally different than a person with typical chromosomes doesn’t feel right.

Lastly, I sense a real stigma permeating the discussion of medical risk and disease.  Now, I don’t have a child with a significant medical issue.  (This of course, like for any human being, could change.)  However, when I read the comments in these articles talking about the new research, it almost feels as if the assumption is that an person gets leukemia, infantile spasms, Alzheimer’s, etc., because of his inherently defective genetics.  To be sure, a significant risk factor could be Down syndrome, but the exact hows and whys that an individual develops a disease or condition is very hard to know.  There is no health condition that is unique to Down syndrome, after all.  My real concern: Doesn’t this stigma contribute to discrimination against people with Down syndrome overall?

I just can’t accept it as simple common sense that Down syndrome is unhealthy.  I just can’t lay all of that on one chromosome.  Risk and statistics are very complicated, and tell us mostly about large groups of people.  It is harder with a single individual.  Just ask the mother who had a baby with Down syndrome after receiving 1 in 1000 odds after screening.  Clearly, she had a 100% chance of having that baby, but simply did not know every single factor that may have calculated into that equation of chance.

I’m saddened by the general public’s quick leap into assuming that the ideal application for this new research is to “cure” or “prevent” Down syndrome itself, rather than treat a specific disease to enhance an individual’s comfort and quality of life.  No one contemplates getting rid of an entire group of people in the name of better health, except, it seems, when it comes to genetic differences such as Down syndrome.  I know that the research is probably not intended as such, but why is the rest of the world so quick to go there?

My son with all 47 chromosomes is here to stay.  Let’s slow down and try to understand what science has to offer, before we make any assumptions.  Down syndrome is part of genetic diversity.  It has been in existence for as long as humans have, and will continue to be.  Perhaps we should stop thinking that people with Down syndrome are surviving despite their 47 chromosomes, but with their 47 chromosomes.

I'm not a bundle of medical risk, ok?  I'm individual and unique, gosh darn it.

I’m not just a bundle of medical risk, ok? I’m individual and unique, gosh darn it.

Next up: Intellectual Disability*

* This, of course, assumes that I’ll be able to keep my focus on this one topic of thought.  Wish me luck, as it is not a given.

Edited to add: It has become apparent to me that I haven’t addressed the topic of stigma against illness and disease enough.  I do not believe there is a hierarchy of human worth based on health status.  In fact, I believe that this tendency to define Down syndrome in and of itself as a unhealthy also contributes to sometimes poor medical care for those with high/complex medical needs.  I can’t list the number of times I have heard parents express that doctors were less willing to intervene in serious medical situations because of their belief that “Down syndrome is just like that”.  What I truly want is for each individual to be treated as a unique case.  Down syndrome must be accounted for when assessing medical needs, to be sure, but it can’t be the entire picture.  ~jl

35 Comments on “The Problem With Down Syndrome: Part 2”

  1. I completely agree. My son is 25 and has NO health problems at all. He had his tonsils out at age 5, that was about it. He has seen his doctor less than most people over the course of his life. He wears glasses and has alopecia. That’s it. Those don’t have anything to do with DS. He is healthy and happy and living as normal a life as he possibly can. He has a job and he has his video games and his family and friends. He has a great life!

    • Jackie says:

      I have a 21 year old son living with Down syndrome and aside from having really loose ligaments around his knees (for which he wears knee braces for sports), and he also has nystigmatism (eyes), both conditions also exist in all ‘typical’ humans. He has a heart of gold and full of love and places no judgement on others. He is extremely happy except he does not have a girlfriend and job. lol. Many people have this problem, lol. He is the light of my life and I know he is my soul mate

    • jisun says:

      Thank you for sharing, it is so important for people to see the reality of what it is like to grow up with Ds. Some can have very big medical issues, and some do not, just like the rest of us. I’m glad your son is happy and thriving!

  2. Well written and well said. I’m glad I found your blog, I’m interested to read more.

  3. Paula Shockley says:

    After having been on this journey for nearly 8 years now, here is my take on it. Everyone wants to give birth to the next President, the Foremost Neurosurgeon that will cure Alzheimers, or an Astronaut, Peyton Manning, A-Rod etc. That is the dream we have when we are carrying our bundle of joy.

    Truth is, about only .0005% of the population get to be famous, good looking,or the President. Our sweet Savannah is funny, gorgeous, loving, ornery, and my beautifully perfect daughter. She has only this “Diagnosis” of DS. It is our families goal in life to burst the silo’s of those who believe that only “typically” developing children/humans have any worth. Or that we need any pity or sympathy. We both work full-time jobs, we live in a nice home, we have dogs, cats, and Savannah has a fantastic, beautiful, 10 yo sister. We go to the zoo, concerts, DisneyWorld, the grocery, and the park and school. We parent her as a typical child, having expectations of behavior and social skills.

    NOT ONE of us has perfect genes or DNA. We all have differnet DNA, we all have chromosomal differences. Sit down and have a chat with a Geneticisit sometime. It is what it is, and we are all what we are. Good, bad, ugly, saintly, criminal, sane or insane. Down Syndrome is simply the name that goes on the Chromosomal abnormality of having an extra 21st. There are plenty other diagnoses, that take years and millions of $$ to diagnosis. The work here has been already done. Bottom line is, we all love our families, because they are ours. God makes no mistakes!!

  4. Jenny says:

    Great post!! When Russell was born and they told us he had Ds they also pulled us into a little room and read down a HUGE list of all the medical problems he would likely face. I sat there crying thinking I had just had a baby who was going to spend his entire life being very, very, sick. That we would forever be in and out of Hospitals, it was the most depressing day of my life. And in that moment I felt sorry for my son…I felt sorry for his future. I felt sorry he had been born.
    And here we are three years later and he is the healthiest of my five children. The most he has ever had is an ear infection! My son is healthy and strong…And yes, he has Down syndrome!

    Excellent post!!

    • jisun says:

      I didn’t know that about your story, Jenny! I wish doctors would give the diagnosis with some nuance. Of course, health issues can happen, but it seems like that is the only thing parents are told. Not my idea of balanced information!

  5. I agree but also disagree I have a 27 yr old Son with DS.He has gone through so much in his short life. He has MOYA- MOYA central and obstructive sleep apnea,seizures ,He is trach and feed tube.He is the most complicated case in the seacoast area where we live.He has been in a wheelchair at the age of 9 after his last CVA. his medical records18 folders stuffed to the gills each and everyone.He has had over 100 cases of pneumonia and ear infection beyond belief. edema of the lungs four times.Maybe more.,Blood infections Scarlet fever 7times. And the list goes on.But He is a trooper always has a smile on his face and loves to give hugs.

    • jisun says:

      It sounds like your son is strong, and so is his mama. It isn’t that I don’t think people with Ds can have real medical issues, clearly that is not so. But then again, there are some kids with typical chromosomes who have very complex medical needs. Either way, I am disturbed by the implication that if one has Down syndrome, then complex medical needs are a given and all come from that third chromosome. What I really want is for the medical community and society at large to treat each person as an individual, no matter what.

  6. Latke says:

    It seems to me that a major consequence of this genetic research, which will certainly keep pressing ahead, may be answers to all these questions about correlation versus causation,(hopefully) accounting for each individual’s unique combination of genetic makeup and environment. What we do with any such results, of course, remains to be seen, but will certainly reflect our collective and individual values, for better or worse.

  7. stephanie jones says:

    I have a grand daughter born with Ds this last year and you hear all this bad stuff that is going to happen or that she could have…The only problem that she had was a heart defect and they were able to fix it….she is so loving and always has a smile on her face….she plays, laughs, hugs all the normal things any other child does….when you are in her presents you feel this wonderful peace….She is so amazing and her family loves her more then you can imagine,…People need to educate themselves before speaking out…We need to focus more on things people can change like drugs, alcohol and etc…Ds people are wonderful and the most loving person you can meet. they do not feel sorry for themselves and are always ready to go that extra mile….Us so called normal people could learn a lot from them….Ds people we love you and if we had the hearts that you have our world would be a better place….My hats goes off to you…….

    • jisun says:

      So glad to hear your granddaughter is doing well! Of course, in a different time, a baby with a serious heart defect would have been in that group of “severe medical needs”. I’m thankful for medical advances that have allowed treatment for conditions to improve life. Goodness knows, there was a time when a child with Ds wouldn’t have been considered worthy of heart surgery. That attitude still persists, I believe, so lots more work to be done.

  8. Lynn says:

    I identify with all of these comments and hesitate only to say that as the child born with DS grows into adulthood, the cognitive differences become more painfully obvious when your angel cannot perform simple tasks that you thought she had mastered many years ago. The constant repetition of fundamentals, like spelling out simple foods for the grocery list, constant reminders to perform basic hygiene, hair=brushing, teeth, etc makes one hopeful that the geneticists can in some way help with the cognitive processes. A parent cannot help but hope that their child can be independent and happy, and we all strive, some having to work harder than others, to achieve the ideals regardless of the obstructions. I am pleased to see that these discussions are broadening peoples’ perspectives. Having a child with DS has been a wonderful experience and I love my daughter with every fiber of my being; but do I wish that she could magically become more normal in order for her to achieve independence which may lead to happiness? Yes, I do and I am sure that if parents are honest with themselves, they would admit the same. That being said, the perception does need to be corrected that children with DS are less healthy in general than their typical siblings and friends. They are more alike than they are different and should not be perceived as unhealthy.

    • jisun says:

      I’m planning on writing about the topic of cognitive difference soon, so thank you for sharing. I think perception is a big issue swirling around in my head. Perception of struggle, intelligence, health, happiness. Lots to think about.

  9. Annie Castle says:

    Hooray! 12 years and some odd days ago, I gave birth to a beautiful and healthy baby girl who has down syndrome!!! Thank you God! I have friends whose children have cancer, cystic fibrosis, great difficulties with diabetes, etc. My daughter is happy and healthy! We are so blessed and fortunate!

  10. Jeanne K says:

    This was great! My son is almost 20 and has had minimal health issues. Ear tubes, glasses, and he had corrective surgery for a hypospadius (pee-hole on the front rather than the top). He is generally healthy and has a great joy for life. He is the best part of my life.

  11. Hiremath Shidramayya (Swami) says:

    Doctors and medical science is only a trial and errors methods because they do not have answer either yes or no but in engineering we do find the result only yes or no. Being an engineer i was irritated by doctors when God was gifted me DS son 12 years ago. I have no complaints on him,yes he is still not admitted to school,speech not yet clear,this list shortened with his age increase,yes it happens with all DS children. So do not believe doctors. Yes i do agree my son have no health problems and it is sure that he have 47 chromosome.
    Feel free to call me +2347011828805

  12. Lisa says:

    Excellent, my friend. I, too, am having a very hard time getting on board with groups and organizations that seem to be popping up whose aim seems to be to dump money into research that will “treat” Down syndrome, improve cognition of individuals with Ds, and so forth. It doesn’t feel right to me.

  13. Priscilla says:

    I believe our world has a problem with anyone being different. Most parents want their offspring to be head of the class in looks and grades. BUT—look where it has gotten us. We end up admiring people who have terrible morals,but lots of money and good looks.
    A change must be made. Those of us who see the problem need to be teaching anyone we can about the worth of people—-not money or prestige or beauty—-but character,love, human worth. Jesus said the 2nd greatest commandment is ‘Love your neighbor as yourself”

    • jisun says:

      Couldn’t agree with you more, but I do think it isn’t so much a lesson but a conversation to be had. Honest, respectful conversation about where we are collectively going as a society.

  14. Francine says:

    “No. I’m quite sure that the problem with Down syndrome is that the world insists there is a problem at all.”

    YUP! Welcome to the family. I have an amazing 8 year old daughter with an extra chromosome, along with her two slightly bigger brothers (ages 11 & 14). You are in for the most FABULOUS ride, and people who don’t take this ride have NO IDEA how fabulous it is.


  15. Jolene says:

    This is a very interesting discussion. I understand where you’re coming from. Down syndrome is not a disease. My Lina is not sick. (Well, she currently has a cold, but that’s beside the point!) She is at increased risk for some serious health conditions, but as you do a great job of pointing out, so are many other individuals and groups of people. And there is no doubt in my mind that we find more because we are looking.

    I will say, though, that Lina’s Down syndrome has given us an advantage in that medical professionals, state resources and therapists are all very willing to be proactive, where in cases of other diagnoses (or a lack of a specific diagnosis) they would usually wait until a child was significantly delayed or experiencing very serious health issues before intervening. We have been plugged in to a tremendous network of resources and support since her birth. My typically-developing son had significant feeding issues in his first weeks of life that ultimately led to an inability to nurse, and I wonder how things might have been different had the same support resources (specialists, feeding therapists, etc.) been available for him.

    None of the coverage I read of the recent research break-through suggested that we were anywhere close to eliminating Down syndrome. I found it incredibly encouraging to read that by the time Lina is reaching adulthood, we may know how to use genetic therapies to reduce her risk for health issues. The one that really gets me is the exceptionally high rate of dementia in older adults with Ds. It gives me great hope to think that there might be a treatment for that in 20 years. I can easily get behind treatment to help with cognitive development. I hope for the healthiest, longest, most productive lives possible for people with Down syndrome. But if we’re talking about eliminating the condition, I have very, VERY conflicted feelings. As the mother of a child with special needs, I deal with the daily reality that we face a lot of extra challenges, and that Lina is going to face hardship as a result of her genetic differences. I can understand wanting to avoid that reality for other families. But you can’t talk about eliminating my child’s genetic condition without talking about altering who she is. And are we as a society really better off if we can eliminate genetic anomalies and create more same-ness? I don’t think so.

    • jisun says:

      I can understand wanting to avoid challenges, but in some ways, I think it is a bit misguided, because who is to say you’re not simply replacing a different challenge?

      Thank you for making that point about proactive medical care; you’re right, there is a benefit to knowing statistical odds/risks. It was the reason we ultimately did decide to go through all the checks and screenings, and will continue to do so.

      I’m still having conflicted feelings, to be honest. While I know the researchers weren’t aiming to “cure” Down syndrome, it just seems like everyone else thinks that is the foregone conclusion. And you said it so well, are we better off by creating more same-ness? I don’t think so either.

    • jisun says:

      …and I hope your little one’s cold gets better!

      • Jolene says:

        Thank you! She and I are sniffling and sneezing together.

        This is a tremendously complicated issue, and one I don’t have entirely sorted out for myself, either. If I try to type out a cohesive position, I end up erasing it, because I talk myself in circles. I don’t know if there will someday be a world without Down syndrome. I know there will never be a world without disabilities and differences. My dad is blind. I hope someday someone will find a way to end blindness. But that doesn’t mean that my dad’s life is a tragedy. Whether or not someone eventually finds a way to suppress a third copy of the 21st chromosome, my daughter’s condition is not a tragedy. Science will be sorting out what is possible with genetics, but your son and my daughter and so many others will be showing the world what is possible REGARDLESS of genetics.

  16. […] The Problem With Down Syndrome: Part 2 […]

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