For World Down Syndrome Day, we are introducing a 3-part blog series about the lived experience of a parent in the Down syndrome community. Living with three generations who have special health needs, Marie is a passionate advocate for the difference that research can make.
Marie has an older brother who has a congenital syndrome, and a three year old daughter with Down syndrome. Marie’s mother developed Alzheimers about five years ago, and Marie began to care fulltime for both her mother and her older brother.
In Part One, Marie speaks about the positive effects of research for her daughter, and how her daughter is defying expectations.
Part One: An ‘incredible difference’: how research can improve lives
When people hear that ‘research improves lives’, it sounds abstract. What does that reality look like in your family’s story?
Research is important and life-giving, and for me, it hits particularly close to home because of my sweet brother. He has a lifelong disability that affects him physically and intellectually. For years I have been in the dark about what my brother needed, although I was trying to advocate for him for a long time. It took another experience to open my eyes, helping me find tools that could make a difference.
I discovered at my daughter’s birth that she had Down syndrome, and I was devastated. In the moment I was replaying my brother’s life in my mind, worried that we would go through the frustrations and unknowns all over again. However, it has turned out very differently. It’s clear that she is not going to have the same level of challenges that he had, not by luck, but due to the research-based insights and interventions that are available now.
Does research actually improve everyday life for you and your family?
I am so encouraged by the difference it makes. Simply look at the life expectancy increase for children with Down syndrome: it has skyrocketed. Life expectancy used to be around 10 years at the start of the last century. Now it’s up to about 60 years old. That’s an incredible difference, and it happened through better knowledge and improved practices.
When I took my three week old daughter to the cardiologist to check her heart, the cardiologist reassured me that ‘now is a good time in history to have Down syndrome’, which was very comforting. Heart issues may be common, but health professionals usually know what to do to fix these problems. The cardiologist ran a number of tests to make sure that my daughter’s heart was okay, and after that she told me, ‘I never have to see you again: her heart is perfect’. My daughter is super healthy, and we are lucky that she doesn’t have heart problems – and we are also fortunate to have the peace of mind that comes from ruling out potential problems.
Recently my other two kids were sick, and my daughter with Down syndrome had a few symptoms, but amazingly, because we are focusing so much on her health and wellbeing, she actually does not get sick like the rest of the family. We don’t take that for granted: this year, many children with Down syndrome have been in hospital for respiratory issues recently. It is out of the ordinary that her health is so robust, and we think it is because the health interventions that we are adhering to are very effective.
She’s on a regimen of supplements, but they’re not blanket-prescribed. We give her specific supplements according to the results that show up on her blood labs, guided by research that shows what will be most effective for children with Down syndrome.
She has hypotonia but it’s minimal because she’s taking CoQ10 and supplements that help with muscle activation. She has a good working memory. A lot of speech issues are due to vitamin deficiencies, so we are being pro-active to help her speech development.
She just turned three years old and people are constantly amazed by her development, even compared to her peer group. She is defying many of the limitations that people would have set on her, given that she has Down syndrome.
All my daughter’s therapists have been extremely impressed by her, but we know there is a reason she is developing so well. We have been following the Doman Method and doing targeted stimulation exercises from the very beginning. When she was a little baby we did vestibular exercises, like swinging her around in different directions, pulling her around on a pillow, doing various exercises for balance, and it has really paid off. However, the therapists never directed us to do that, and I don’t know why, because the research on the effectiveness of these techniques has been out there for a while, and the Doman Method has existed for a very long time.
At this moment, at just three years old, my daughter can run, can do cross-country skiing, she can walk across a balance beam, she can swing from a bar – she has excellent balance, equal to a typically developing three year old. Many of her skills are age-appropriate for someone without Down syndrome, and she is ahead of her peers among those who have Down syndrome. Neurologically she is very close to her chronological age.
Amazingly too, she can read a lot of words! We were taught some techniques that have allowed her to begin recognising words from an early age.
Her occupational therapist told me that in 40 years of her being an occupational therapist, my daughter has made the quickest gains that she has ever seen made by anyone. She will teach her something one day, and the next day my daughter will remember it and be able to do it. I completely attribute that to the supplements that her doctor has given her for her brain and her cognition.
However, if this growth wasn’t happening, or if, for example, balance problems were showing, it probably wouldn’t be viewed as a red flag, because very few people would expect that it could be different. The baseline would be set much lower than she has shown she can actually achieve in reality. As a parent, I would probably have accepted a lower baseline too, without all the support I have received from people who have proven that the ‘normal range for Down syndrome’ is set – and then maintained – way too low. If I didn’t have all the resources I’ve been given right from the beginning, and if I wasn’t connected to the right people to inform me, I wouldn’t know any different.
My daughter is really happy and she’s thriving. Knowledge is key: we know that she definitely has some issues that could be major setbacks, but the crucially important thing is that we also know how to intervene.
Do you find that the medical profession is aware of the recent research on Down syndrome?
Unfortunately, there is very poor general knowledge among medical practitioners about how Trisomy 21 can affect the body, which limits the likelihood of professionals diagnosing issues or preventing problems. We have been incredibly lucky to find a doctor who is diligent in following up on the most recent research. In our first appointment and at every subsequent one, through whatever we were dealing with, Dr Erica Pierson had links to published recent research articles to back up what she was recommending for us. She never glibly gave a vague or generalised solution: her recommendations were all evidence-based, on the back of research studies.
For example, with my daughter, it was identified that she has a specific issue that we need to monitor. She has very poor detoxification pathways, and has heavy metal toxicity due to the pH that is created within her body. She also has an alternative metabolic pathway that breaks down tryptophan into quinolinic acid, which is a neurotoxin. So, her body is creating a neurotoxin which would cause massive cognitive decline. This issue was identified by our doctor and we started counteracting the problem. If we didn’t have a doctor who was doing this research and aware of all the recent findings, my daughter’s cognition would be in decline, and I would never know what was causing it.
Many things that we write off as ‘Down syndrome’ are metabolic issues and biochemical issues, which can affect many typically developing people too. The good news that people often seem to be oblivious to, is that these issues and imbalances can be treated before they lead to serious problems. However, generally if a child starts to decline cognitively, most doctors currently still tend to conclude ‘we can’t stop that, because she has Down syndrome’.
As I think about the quality of my daughter’s life, it brings me to tears. If she did not have a doctor that took this research seriously, she would have a very different outcome. I know our actions now have prevented issues further down the line, and I’m so grateful to have access to this knowledge.
Upcoming: Part Two: “It could have been different”: advocating for more access to research