Even within the Down Syndrome Community, there is a lot of misunderstanding about Down Syndrome. So I am going to be doing a series of videos to talk about my wife and I have learned over the last like six months as we have studied from a very smart group of people including an MIT educated biochemist. People that are blowing my mind because they are so smart, but helping us to understand what is misunderstood about our children with Down Syndrome.
A Little About My Family
When we got the news that my wife was pregnant with our third, we were both excited and blown away all at the same time that we were going to have a third child. Like I said we have an eleven year old, and with him, he had some very interesting things. We ended up a lot of doctors because someone at some point said, “you know, I think he’s got some sort of genetic something going on, and so we want to check and see if there’s anything more major we need to be concerned about.”
And so we delayed having more children because of all that was tied up with him. And then we had our second, who was healthy and amazing. And so after him we said, okay great, maybe we want to have one more, and then oops, it happened!
So what happened with us, we had two boys already, and my wife really wanted a girl. My cousin had just had a baby, and had told us about this blood test that could tell you the gender really early in pregnancy. If you know this test, you know it is actually a genetic screening. So my wife was really excited, she didn’t want to wait for the 20 weeks to what we were having because she wanted to know to see if we needed to get new clothes and things like that.
So she told the OB that she wanted to have this test done. The OB said that was fine, but that it really was designed to be a genetic screening, and my wife came to knowing what we were going to have. She asked the doctor if she could just not tell us the other info, of course the doctor said no, she would have to tell us that too.
So she went ahead and did the test, and the results came back, and our baby was flagged as probable Down Syndrome. That rocked our world!
I remember, we were in the car when the doctor called her, we were in the car coming home. The doctor didn’t say anything about coming to the office for the results, just wanted to tell her over the phone right then. I remember my wife just being completely devastated.
For me it brought back memories of growing up watching Life Goes On, and that instilled in me a fear of one day having a child with a significant special need, and the being an underlying fear of mine. So when we got the call and the doctor said hey guess what, you’re going to have a child with Down Syndrome, I remember it rocking my world as well, and we were like, well what does this mean?
All of you that have kids with Down Syndrome know that meant a whole lot more appointments, and so the whole process started. We were sent to go see perinatology and a genetics counselor. I remember the big thing that kept getting hammered home to us was the chances of the baby surviving pregnancy are very low, and so you should just terminate the pregnancy.
Or there was this one too: you’ve got two other kids, you’ve got to think about them, and what if this pregnancy risks your life as mom. This will completely change your family. My wife and I, the way we believe, it doesn’t matter what we know or what we don’t, we’re going to have the baby. If God chooses to take him, then so be it, but we are not going act as the hand of God.
That is where we were, and it was really tough because the doctors we were working with didn’t really seem to get it. And so it was a very stressful pregnancy.
Once our child was born, he spent two weeks in the hospital, and some of what we kept getting told was, “well this is common for Down Syndrome, or this over here is common for Down Syndrome.” We got this amazing book, Babies With Down Syndrome (https://amzn.to/329SAhO), I’m sure many of you have seen this or read at least part of it. It is an amazing guide for understanding some of the things that are going on with Down Syndrome.
The challenge is that what we are constantly told as the Down Syndrome community is, “well this is fine, it is just normal, it is just normal for them.” And all that means, and it doesn’t matter whether we’re talking about people with Down Syndrome or people that are aging or whatever, all it means when we talk about health and something that is “normal” is just that it is something that is common. It doesn’t mean that it has to be that way. It doesn’t mean there are no other options, or that it is inevitable.
What Is Common May Be Avoided
Some of what we’ve learned working with the group we have worked with and getting to know some of the scientists that are way smarter than us, is that there’s a lot that we know about the genetics of Down Syndrome. Now the basics that we all know as parents of someone with Down Syndrome: Down Syndrome is an extra copy of the 21st chromosome.
What we are commonly told is that it affects everyone differently. That is both true and not true. What is true about that is there’s a lot of things that happen prenatally that will affect what the health of a child is when they are born. That’s true for kids with Down Syndrome as well as those without it. But it’s more pronounced with kids with Down Syndrome. So there’s a lot of things that happen in terms of nutrition and how the mother’s body absorbs and processes nutrients and things like that will affect what happens right after a child is born.
At first, you have that emergency stage of what may be life threatening when they are a first born, things like is the heart okay, is the digestive tract okay and complete, is everything connected where it needs to be, all those things that could be critical for life in the first weeks or months.
As you get past that stage, now you start getting into a stage that yes there are still some things that are unique to every one of our kids, but there is also set of things that are common. And that’s because when you look at the 21st chromosome, and its duplication, thankfully the entire extra copy is not active, but only a small region call the “Down Syndrome Critical Region,” and that is what is active and affecting our kids. The rest of it is there, but isn’t doing anything.
So what this means is this region is what is affecting how our kids process foods, how our kids’ minds work, and things of that nature. And there have been a ton of things that have been done in terms of understanding genetics and mapping the genome, to understand this. The 21st chromosome is one of the first chromosomes that was mapped and sought to be understood. So there is a lot that we know that because of this section that is active on the extra copy of the 21st, these things are going to be consistent.
So that’s what I want to spend the next several videos that I am going to do discussing, some of the things that we know to be consistent. Now, I’m not the scientist, my background is business and marketing and I was a youth pastor, so I am definitely not the scientist. My goal is to take what we are learning and break it down for you in little bite size chunks to help you understand.
Why Is This Important For You And Your Child?
None of the doctors we work with are experts in Down Syndrome. We have to be that expert. We have to be the ones to say listen, this is what’s going on, this is why this is happening. All most doctors and therapists do in our team is look and say “yup this is common” because it is the things they see frequently with kids with Down Syndrome. But they never ask the question why.
When you ask the question why, there’s something that can be done about it. So for instance, our son had a real problem with reflux, and we kept asking why is this? The doctor and the therapists we were seeing were really pushing us to go see a gastroenterologist. Great, we may still end up seeing a GI doc, but at this point we haven’t yet. Why?
Because the research we have seen and the experience we have shared with other parents is that when a child with Down Syndrome has reflux, Typically what happens is GI says “great, lets put him on an antacid medication,” which are called PPIs, to help reduce the amount of acid in the GI tract.
But in most cases those are ineffective. The reason why is because reflux is not actually caused by an overabundance of acid. It can actually be caused by too little acid. So you start feeding your child and there’s not enough acid for the body to break the food down, so what happens is the body starts kicking out more acid really quickly to try to be able to digest the food, and it causes reflux.
In the case of our son, what I think was actually the case was he was tongue tied. But not at the front of the tongue, which is called an anterior tongue tie. It was a posterior tongue tie, which is in the back of the tongue which is commonly missed because it doesn’t cause the typical dimpling of the tongue. We went to a dentist who is very familiar with it, and she looked and said yup, there it is, and we started talking about what it does.
Imagine if you had a piece of skin connecting your arm to your back so you couldn’t lift your arm up all the way, you’d never learn how to extend your arm or things like that. Well the back of the tongue is needed for manipulating food down the throat, and for getting a good latch on a nipple. And our son at almost three years old still takes most of his liquid through a bottle because we’ve had a lot of issues with aspiration. We found out that this could actually be a contributor to why he aspirates.
They did swallow studies and said yup, he’s aspirating, but never asked the question why. Fortunately one of our friends who has a little one about the age of our son, told us about this, and said as soon as they got it taken care of, it solved most of her reflux issues.
So we went and saw the doctor, and asked what can you tell me about this? Can you look and see if it is an issues. She said yup, and so we had it taken care of, and we’ve definitely seen an improvement. Now is that his only issue? Possibly not. But why go jump on something like a PPI when the issue isn’t actually too much acid, it’s a structural issue.
That’s why we have to be very careful of accepting the “well this is common” line, and start asking the why question. So that’s what we’re going to explore through these videos.
I so appreciate you being here and hanging in with me and listening to this part of our story. I will definitely be back and walk through some of what we’ve learned, some about what we know about the Down Syndrome Critical Region of the 21st that actually affects them and what that means. What we know about things like medications that we’re aware of at this point that you need to be careful of and why. So I hope this was valuable for you, that maybe it was a little entertaining, and more importantly I hope that you come back and learn. We can only advocate as well as we are educated. So let’s improve our education.
On the video, I got the tongue tie mixed up, Noah had a posterior tongue tie (deeper in the mouth), not an anterior tongue tie (closer to the front of the mouth).