Answers to the 8 Most Common Questions About Down Syndrome



October is Down Syndrome Awareness month which means that you're going to be hearing and seeing a lot about Down Syndrome.

I couldn't be more excited because Down Syndrome Awareness gives individuals the voice they deserve when it comes to understanding and inclusion.

If I were to ask you what you know about Down Syndrome, what would you say? Most people know that Down Syndrome has something to do with an extra chromosome and that people "suffering" from Down Syndrome may be mentally disabled but what do you (really) know about Down Syndrome?

Here are answers to the 8 most common questions that people ask about Down Syndrome.


1. What Causes Down Syndrome?

Down Syndrome is caused by an error in cell division called nondisjunction. This means that prior to conception a pair of chromosome 21 in either the egg or the sperm fail to separate.

When an egg and sperm come together in conception, the fertilized egg now has three chromosomes (usually 2 from the egg and 1 from the sperm).

Trisomy 21 caused by nondisjunction is the most common form of Down Syndrome accounting for approximately 95% of all cases of Down Syndrome.

There are other forms of Down Syndrome namely, translocation Down Syndrome and Mosaicism. Translocation Down Syndrome results from a part of chromosome 21 breaking off and attaching to another chromosome, like chromosome 14.

Mosaic Down Syndrome occurs when some of the cells have an extra chromosome and some don't. Mosaic Down Syndrome is the rarest form of DS, resulting in approximately 1% of all cases of DS.

2. Is there a cure for Down Syndrome?


At this time, there is no known cure for DS.

Since Down Syndrome is genetic, there is no way that modern medicine can remove or "turn off" the extra copy of the 21st chromosome.

That's not to say that there is no treatment for some of the effects of Down Syndrome.

Chromosomes contain genes. Genes contain DNA which is the information our body needs to make proteins and build cells. Your DNA determines your hair and eye color, your skin color and facial features and many other features you have that make you, well you.

Just because genes are unchanging in themselves that doesn't mean that we have no power over the way genes create proteins or how we manage the body's overproduction of proteins made by genes. Essentially, Down Syndrome is a complex condition involving the over-expression of many genes and the possible under-expression of some.

While it may seem that there is nothing that can be down to mitigate these "out of control" genes, that's definitely not the case! For example, people with DS tend to be folate deficient due to the over-expression of the CBS gene. Folate deficiency is linked to intellectual disability.

Giving your child folate will help prevent this deficiency and improve his cognition.

When working with your naturopathic physician, you can develop an individualized plan that will address your child's specific needs like diet, lifestyle, and supplementation, that can help your child thrive.


3. Are people with Down Syndrome able to live full lives?

Absolutely!

The vast majority of people with Down Syndrome have reported that they are happy with their lives.

People with Down Syndrome are siblings, daughters, sons, best friends, and lovers. They want the same things that those without DS want.

Individuals with DS can have unique needs when it comes to health and independence but many do live on their own. Adults with DS need employment opportunities and the ability to have fulfilling relationships with their peers just like anyone else.

4. Where does the name Down Syndrome come from?


Contrary to what many believe, Down Syndrome is not named after the affect of individuals with the condition.

If it were, the name would have to be changed to Up Syndrome because of how positive and upbeat many individuals with DS tend to be.

Down Syndrome is named after Dr. John Langdon Down, who was mistakenly described as the first physician to describe the condition in 1866. In truth, the first physician to describe some aspects of Down Syndrome and individuals with intellectual disability was Dr. Jean Etienne Dominique Esquirol who described DS in 1833.

The cause of DS was discovered by Dr. Jerome Lejeune in 1959 who suggested Down Syndrome actually be called Trisomy 21 due to the triplication of the 21st chromosome.

Incidentally, Dr. Lejeune was a staunch advocate for people with Down Syndrome and frequently spoke out against abortion of fetuses with the condition.


5. Are all people with Down Syndrome intellectually disabled?

Not all people born with DS have intellectual disability but the vast majority of them do.

The range of intellectual disability is usually mild to moderate but rarely it can be severe.

The degree of intellectual disability can be linked to other conditions like hypothyroidism and folate deficiency.

Your naturopathic physician can actually include recommendations that specifically address your child's cognition with herbal medicine and supplements along with diet and lifestyle changes.

6. Are people with DS always happy?


Not at all! Remember that people with DS are people first!

That means that all people with DS have the full range of human emotions that you or I may have.

People with Down Syndrome are people just like you and me.

7. Can Down Syndrome be prevented?

There are 2 schools of thought concerning this issue. The conventional thought is that DS can't be prevented and there is nothing you can do to reduce your risk other than having your child at an age younger than 35.

Incidentally, the majority of children born with DS are born to women younger than 35 years of age. Not because there is a greater risk at a younger age but simply because more women younger than 35 have children. It's a simple numbers game. I was 31 when I gave birth to my daughter.


The second school of thought championed by naturopathic physicians like Dr. Ben Lynch, is that you can prevent DS from occurring. He believes that the nondisjunction causing DS is not random at all and is linked to MTHFR and other gene polymorphisms which can be mitigated with proper diet and supplementation.

Personally, I believe there is truth in both approaches. Research does confirm that there is a higher incidence of children born with DS to women with methionine synthase reductase (MTRR A66G) polymorphisms (gene variants). [1] but it seems that the research can be contradictory.

While it is admirable for you to want to give your child the best life, don't think that a child with DS has a worse quality of life than someone who doesn't. As stated above, people with DS are happy.

I believe it is society that needs to change when it comes to accommodating and accepting individuals of all abilities rather than preventing their occurrence or worse eradicating them.

8. What's it like to be a parent to a special needs child?


Ok so it's not a common question. In fact, I don't think I've ever had anyone ask me this before but that's just because you are all so polite (wink wink).

Being a special needs mom isn't something I ever envisioned myself as. When I was younger, I barely even saw myself as a mother! In reality, being a special needs mom is hard but I don't think it's much harder than parenting a typical child. That's my personal opinion. If we differ, please let me know in the comments.

Since I have a typical son and a daughter with DS I get to parent both. I don't compare my experiences parenting them because they are both different individuals with different needs. Sure my daughter may require more effort when it comes to language comprehension and speech but my son struggles with writing his numbers and sitting still.

I'll admit that I've been blessed when it comes to my daughter's health. She's rarely ill although she did have Tetralogy of Fallot with complete AV canal and needed a repair at 5 months old. Incorporating naturopathic medicine into our daily lives has been a life changer for her.

She's thriving and in a mixed class with both special needs and typical kids.

I'm diligent with her health as with my son and see to it that both of their needs, no matter how different, are met to the best of my ability. So I don't find it a burden to be a special needs mom. I don’t regret having my daughter. She fills me with just as much joy as my son.

And that's what I hope people without an individual with DS in their lives can understand. The vast majority of us don't see DS as a curse, or a burden, or something to be ashamed of and pity. Most of us see our loved one in much the same way you see yours: perfect.

And wouldn't it be nice if we could all see how perfect people with DS really are?

References:

1. Pozzi, E., Vergani, P., Dalprà, L., Combi, R., Silvestri, D., Crosti, F., Dell′Orto, M. and Valsecchi, M. (2009). Maternal polymorphisms for methyltetrahydrofolate reductase and methionine synthetase reductase and risk of children with Down syndrome. American Journal of Obstetrics and Gynecology, 200(6), pp.636.e1-636.e6.


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