Wednesday, November 1, 2017

DS Awareness Continues: Over Expressed Genes Matter!

The only thing over expressed here is cuteness!
I missed the last two days of Down Syndrome Awareness Month because, well, I have DS. And when you possess the extra chromosome you are also subjected to extra meetings and therapies and other sundry tasks that may occupy your time.

For instance, on the last day of October, I had meetings all morning at my school. I knew I was being observed during one of these meetings while my tutor tried to work with me and so I performed well. And by "well" I mean the observers were not impressed, but the Oscar committee is considering not if but how many Oscars to award me. It was an educational experience to say the least. For them. 

This brings me to one topic I have yet to touch on during DS Awareness Month and is perhaps the most elementary: What on earth is DS anyway? 

I would've assumed that this is known, but admittedly even my parents really didn't know the specifics of this until after I was born. And then, inspired by a YouTube video in which a man overheard a kid ask his father, "What's Down syndrome?" and the father, not to be mean, but out of sheer ignorance, responded: "It's an illness. It's an illness of not knowing anything," I thought I should set the record straight. Especially since I know everything. As most children do.

Simply, Trisomy 21 (T21) is the scientific name for DS explaining that there is an extra chromosome on the 21st pair. So instead of a pair it is a trio. And instead of 46 chromosomes like most people, I have 47. One happy little extra chromosome is all it is.

But this one little tiny extra chromosome causes a litany of side effects in my body from slower mental and physical development to thyroid complications, a lower immune system and certain facial characteristics that set us apart, among many.other.things. 

Those issues are not what defines DS, however. It is simply an extra chromosome, a gene that is over expressed in the person. Everything else is symptomatic.

So, if the entire basis of DS is due to over expression of this extra chromosome in one's DNA, then we can view DS as a biochemical issue. Biochemically speaking, people with DS have a harder time detoxing heavy metals from their system. Their methylation cycles are challenged. They generally have lower levels of selenium, zinc, iron, glutathione and more. All of this - and there is much more - causes a domino effect of physical issues (in addition to what was mentioned above such as thyroid and immune issues). Thus you'll find many blog posts of mine written from a hospital, while attached to oxygen. Or from an operating table. Or after traumatic trips to the ophthalmologist, ENT, cardiologist, dentist, orthodontist, endocrinologist or any other medical expert that I so desire to meet.

If you deal with DS on a biochemical level, Targeted Nutritional Intervention (TNI) may become a way of life for you - or for your parents who are helping to ease or even alleviate the challenges brought on by the extra chromosome.

As one parent who is also a scientist put it:
... The next best thing is a multifaceted therapy that inhibits these genes and works to target as many disruptions of biochemical pathways and neurotransmitters as is presently, humanly possible
Since this is exactly how TNI works, anyone with an understanding of DS biochemistry and who has studied epigenics isn’t likely to disagree. ...So what can you do? You can do your own research. You can ask “what good will ignoring gene over expression do for my child?” 
Don’t expect your MD or Naturopath to be biochemists. Most have very little, if any background in biochemistry and none in DS biochemistry, which is decidedly different from non DS. But do expect them to hear you out, to look at the research, and to keep an open mind. 
If someone tells you that there is no need to inhibit over expressed genes, find another care provider. Far too much research exists saying just the opposite to justify that mindset. As the mother and grandmother of girls with DS, I cannot understand this “do nothing” attitude. As a scientist, it makes even less sense. 
She then goes on to talk about how Alzheimer's inevitably develops in people with DS at an early age and how TNI can be used to stave off the effects.
Why should we simply sit back and let this happen? Why would we not do all we can to insure this never happens? Should we just accept that it’s inevitable when research clearly says it is not? Do we, as parents, really have the right to accept that on behalf of our children? 
One day, your children with actually be able to thank you for that. Don’t be discouraged by people who oppose you. This is your child, your family, your choice. Not theirs.
When you look at DS or T21 from this perspective, you begin to see our outward challenges for what they really are: invisible internal complexities that are assaulting our body all the time.

So we aren't dumb, slow or retarded, but we are impaired by an extra chromosome affects every area of our bodies' functions down to the cellular level. And when you see us and all of the ability that we have, you should understand that these abilities were hard gains. But, we did it!

And that is why we celebrate every tiny accomplishment.

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