The Blessings of Parenting a Child with Down Syndrome
We prayed, we planned, we prepared for this child. We did everything we were “supposed” to do. Everything that wasn't supposed to be, happened anyway. I had a rocky pregnancy: (at the time) unexplainable bleeding, contractions, and pain. But he was determined to live even then in the early days, and stayed with me, growing each day. We thought we were out of the woods after the end of the second trimester but at 33 weeks I was sent to a high-risk fetal medicine doctor for polyhydramnios, which is excess amniotic fluid usually a condition that needs to be monitored closely, can be life-threatening, and indicates abnormalities.
It was there at the maternal-fetal medicine specialist that we did bloodwork and numerous ultrasounds. We had a really big gray area where Tristan's diagnosis was concerning. At that first appointment, we received terrifying possibilities including several diagnoses based upon the issues our doctor could see through the ultrasounds. The first of those that she quickly addressed was her belief that Tristan had a 1-3 chance of Down syndrome, a 1-3 chance of some kind of skeletal dysplasia, and a 1-3 chance of having an undiagnosable and possibly fatal condition. She knew this was earth-shattering and left the room to give us a few minutes. My husband and I wept together, holding each other, touching my stomach where this innocent baby was. I felt like I was gasping for air; like I was being held underwater. We were crushed. Then, the NIPT test came back with a 52 percent chance of Down syndrome.
All issues considered at that point, we were advised to prepare for the worst: losing our sweet baby before we could even hold him, before he could take his first breath. We had to switch all doctors and hospitals to a level three NICU where they could accommodate his medical needs, whatever they may be. We did all we were told to do.
Then, we were in limbo: A depressing, distraught twilight zone for three more weeks. And then he came, ready or not, at 36 weeks. We were so excited and unbelievably scared. We had an extremely traumatic birthing experience. Between the two of us, we coded three times. He wasn’t born breathing and failed his Apgar assessments, followed by a two week NICU stay. I wish that we were encouraged by our doctors to get plugged into Down syndrome support groups prenatally. That would have made a positive difference in the time we spent worrying and feeling alone in the early days.
Our struggle was short-lived, though. In those first few weeks, we witnessed compassion and grace in abundance. We found the right resources, support, and moved past all the negative emotions that came, as with any unexpected twist to life.
I wouldn't have chosen this new path at the time, but I chose this baby before he was even forming in my womb.
We chose to love him and fight for him no matter what, before his diagnosis. We’ve researched cutting edge ways to ensure his health and well being are successful. He has shifted our paradigms on health and healing. As his mama, I’m now a Targeted Nutritional Intervention (TNI) consultant helping parents internationally. We’ve done things we never thought possible! He has taught us so much more than we could have ever hoped for in his three short years.
We are wholly present at each moment. We appreciate the everyday, simple joys that most rush through absentmindedly, and milestones others may take for granted. We are kinder, more compassionate people. We will fearlessly advocate for him. We believe in miracles because we are raising one.
I share his story so we can encourage other parents going through the early days. Tristan is healthy, thriving, and loving life. I want this to provide hope and positivity; reframing the narrative so that we can all bloom beautifully.
Understanding Down Syndrome
A major part of our blooming process was educating myself and my family on the intricacies of genetics and Down syndrome, and biochemistry.
You may know that DNA contains segments called genes. Genes produce proteins, which are chains of amino acids. These proteins interact with each other and run the chemical processes in your body as well as build physical structures, like your eyes and muscles. Each cell in your body contains the ability to be any kind of cell. For instance, every cell contains the ability to be an eyeball cell, but they are not all eyeball cells. Some genes in each cell are turned on and some are turned off to create specialized cells (and so you don't have eyeballs growing out of your arms). That’s a pretty neat thing to think about!
Trisomy 21, or Down syndrome, is the most common chromosomal abnormality. Unlike other congenital conditions that have a deletion or mutation, individuals with Down syndrome have an extra chromosome 21. Each chromosome has hundreds of genes that encode proteins and enzymes.
The extra chromosome causes overexpression of genes that can change metabolism and the function of antioxidants, amino acids, digestive enzymes, and other essential nutrients. Consequently, growth and developmental patterns may be negatively impacted in children with Down syndrome.
Many genes are over expressed in Down Syndrome but these are a few that cause the most issues:
SOD1
RCAN1
CBS
DyrK1a
ColVIa
APP
APOE
GART
MicroRNA 155 & 126b
FoxP2 (too low, not overexpressed)
S100B
COX2
This overexpression happens in every single cell. It causes things like oxidative stress, hypothyroidism, celiac, leukemia, cardiac issues, hypotonia, and cognitive dysfunction. It can lead to things like glutathione deficiency, difficulty detoxing, a leaky blood-brain barrier, accelerated aging, and even Alzheimer's.
With that background, we know these children have extra genes. So what happens to all those extra proteins? Good question! They float around the body doing things we don't necessarily want them to do. For instance, one of the most discussed genes is called Superoxide Dismutase -1 (SOD-1). In a typical person, this gene works as an antioxidant, protecting us from the potentially damaging effects of oxygen. In Down syndrome, this is gene is overexpressed, meaning there are three copies and therefore an abundance of this protein. What happens to the extra SOD-1? The body can't break it down properly. Because of this, it ends up creating a byproduct, hydrogen peroxide. It's incredibly damaging to cells.
Healing with Targeted Nutritional Intervention
The concept of Targeted Nutritional Intervention, known as TNI, is to restore balance to these critical systems. We know the body can turn genes on and off there are thousands of studies on this general subject. We can also do this using natural substances found in food. This is called epigenetics which means "above genetics." For instance, we know that EGCG (an antioxidant found in green tea) turns down an extra gene called DYRK1a, while also having a positive impact on P53. P53 is a gene that protects your body from cancer. So by giving your child EGCG in the correct therapeutic amount, you allow their bones to move and form more correctly, while also protecting them from cancer. In Down syndrome, we know the effects of improper facial bone development: difficulty breathing, sleeping, and clearing mucous. Being able to reduce those issues is pretty incredible!
This is also a complicated balance. TNI addresses many damaging genes and has been developed over almost 30 years based on over 4,000 blood samples–it's brilliant. It's also non-profit. The owner of the company that stepped up to help compound some parts of the beginning protocol has a daughter with Down syndrome. The scientists who have been involved in the research over these decades have also done their work for free. I am humbled to be included in this intelligent, generous, and progressive group as a parent advocate on the Trisomy 21 Research Scientific Advisory Committee.
I’ve witnessed improved health in Tristan and healing in areas I thought were hopeless, if not for surgery. The many holes in his heart closed. He no longer has to see a cardiologist. His leukemia scare was horrible, but it turned out to be a complex iron deficiency which we addressed holistically with great success. His lab work comes back within typical ranges now; he’s no longer neutropenic. His body can fight off pathogens with minimal interventions. I’m still so amazed by him and how TNI, a healthy diet, and neurodevelopmental (brain-building) activities have all given him a beautiful chance at a life well-lived.
He’s truly changed my world. With my work as a consultant, I’m able to educate and help other parents by realistically setting health goals while also encouraging them on this journey.
I want to leave you with my letter of encouragement to new parents.
Dear new parent,
Feel all the feelings, the good ones, and the not so good ones. So much of the beginning of this journey can be fraught with hard feelings, but once you hold your babe you’ll be renewed.
I want you to hear this, Congratulations! Your baby with the extra chromosome that your heart trembled over, he or she will make your world more amazing than you ever thought possible!
Someone once told me we are going through the grieving process when we get a diagnosis, but to keep moving through it, to the next step. At my lowest point in the early days, I would just listen to worship music, a few songs in particular, and cry, cry, cry, because I couldn’t bring myself to pray. I wouldn’t even talk to our closest friends, because I thought they wouldn’t have understood. I’ve come to terms with those painful days and putting walls up against God. Those emotions are gut-wrenchingly hard, and no mama should feel the weight of them daily. So I lay them at the cross. I still have many questions, but until we get to the other side of heaven, that’s where I’ll leave those feelings so I can be the best mom while I still have breath in me. I’m not perfect, I still come back to those places every once in a while but I try to remember to leave it at the feet of the cross and give myself grace on the days I can’t.
Most of your days won’t be like that. Most of your days will be amazing! Most of your days will be filled with so much love and joy and hope. They will be loved and love fiercely! They will bond with their siblings and friends in ways you can’t imagine! Your faith in humanity will be restored as you view life through the almond-shaped eyes of your baby. Their life will come to be an adventure you’ll be so grateful you have a front-row seat to. There’s nothing they can’t accomplish and if you let them, they just may change the world!