What Causes Chromosome Disorders – Are You Facing This Unsettling News Too?

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If ever a question deserved to be answered, this question regarding what causes chromosome disorders is that question. I sincerely hope, you never have to find answers.  But if a day ever comes when you are told your beautiful child has a rare chromosome disorder, any kind of chromosome disorder, well you don’t need to feel like the rug has been pulled out from under you. Once we know what we are up against we can begin to get our ‘land legs’ back and not feel like we are being catapulted by an angry sea. The angry sea of uncertainty can be calmed down with understanding what we are up against.

I really truly wish there was a straight-forward answer to today’s question.  I wanted to find one.  What I can say is that there are four emerging and predominant answers from the studies and continuing research into the human genome.  These answers are surfacing now:
• Sensitive testing such as the micro-array analysis is providing more insight through discovering and substantiating more genetic disorders
• Chemical exposures augment the process of duplication and replication when the cells divide
• Inherited
• Not inherited

If you’ve been here to read my blog before you know I have a bit of science in me.  I found this teacher’s explanation of the chromosome subject to be very helpful.  Why not watch it (its 5 minutes 34 seconds) so it can set the stage for understanding a bit more about what we will talk about as I summarize this subject?

What In the World is a ‘Genome’?

The United States National Library of Medicine gives us this definition: “A genome is an organism’s complete set of DNA, including all of its genes. Each genome contains all of the information needed to build and maintain that organism.  In humans, a copy of the entire genome—more than 3 billion DNA base pairs—is contained in all cells that have a nucleus”. (ghr.nlm.nih.gov/…/genome)

Well, then…isn’t that just dandy.  No wonder there has been a ‘time-lapse’ on getting to really understand genes, chromosomes, and  DNA.   Three billion DNA base pairs is allot of genetic material to be cataloging!

Some Genes Don’t Play Fair

That’s not to say that there aren’t disorders that are heartbreaking because of the unfathomable end result that comes along with it.  I hope and pray that this is not your current situation. Like for instance, the parents who are told their little one has the “trisomy chromosome 18 disorder”.  This replication of the chromosome disrupts normal development at the cellular level and affects the development of major organs.  It often can result in a child not making it to full-term or maybe they live for what might feel like a tortuous month after their birth.  It just feels so wrong to learn that it is a disorder that happens randomly and is not considered to be inherited; that it’s just a malfunction of how the chromosome replicates early on after conception. (http://ghr.nlm.nih.gov/condition/trisomy-18)

And then there is the news many families get that their son or daughter is diagnosed with Down’s Syndrome.   (below YouTube 5 minutes) This too is a subject that deserves a post all of it’s own.  Also called Tisomy 21 it is a….

…genetic disorder, Trisomy 21, involving replication of the chromosome in triplicate which disrupts the natural flow of the replication process at the cellular level.  I have read over and over again that Down Syndrome children are some of the most loving and gregarious folks on our planet.  And you know what I have just realized, my precious little girl is too.  And, of course, her gene deletion is the opposite of what occurs in Down’s Syndrome because one of the genes in a pair is gone.  But isn’t it interesting how it seems to be related?

Now, getting any news about a possible chromosome disorder is going to raise our red flag, right?  I don’t want you to think I know everything there is to know about this subject.  But when you are given this kind of news, like I was a couple of months ago, it makes one want to figure the whole thing out.  For me, because I have a bit of a science bent, (I loved science and biology in school), drilling down on the information hasn’t been foreboding.

So….Lets Dig in On What I’ve Discovered So Far

Today, I want to see if I can offer some insight into this ever expanding and fascinating field of genetics and the increasing discoveries that are involving the human genome and genetic disorders.  I have been digging for information on what my granddaughter’s geneticist called a fairly rare disorder, 1p21.3 deletion , an “autosomal recessive gene deletion”.  Lions and Tigers and Bears – Oh My!  That was how this felt in the first flush of getting this news.

What in the world are chromosomes anyway?  Here is a little You Tube from Scientific American that does an adequate explanation.  It isn’t too long (2 minutes 29 seconds).

Why I Had To Know

What I learned about my little one’s genetic disorder mirrored many of the symptoms and characteristics I had been observing in how my little one interacted with her world, was growing, and was learning.  The big one that jumped off the page for me was that young folks that have this disorder have a brain that did not grow correctly in the uterus and in their first year of life, when the brain should double in size.  The condition is called microcephaly (I will write more about it in another post).

Her chromosome was just a partial deletion, the pair of genes was missing its other half, you could say.  If she had been subject to losing both of the affected genes then her condition would be much more severe.  As I have learned, it would have resulted in a metabolic disease known as dihydropyrimidine dehydrogenase deficiency.  The Genetics Home Reference site, a branch of the National Institutes of Health (NIH) stated that “These affected individuals have neurological problems such as recurrent seizures (epilepsy), intellectual disability, a small head size (microcephaly), increased muscle tone (hypertonia), delayed development of motor skills such as walking, and autistic behaviors that affect communication and social interaction.” The fact of the matter is that she has everything but the seizures.  Even still her neurologist has stated this is a potential that could still surface someday so I keep an eye on her for any possible symptoms.

The Wonders of Our Brain...Amazing!

The Wonders of Our Brain…Amazing!

If both of the genes had been missing a terrible disruption of enzymes would have occurred in her body.  As it is, I wonder how much could still be out of sync with how she is functioning.  It stands to reason if there is an imbalance in the complicated process of our body’s chemistry everything else can in time get out of whack.  This is clearly stated by the British organization CLIMB, (Children Living with Inherited Metabolic Diseases) “Due to the body’s chemistry being so complicated, if one chemical in the body does not work properly, a number of other problems may occur because of this. This serious imbalance can cause progressive damage to a person’s organs.” (http://www.climb.org.uk/)

So…here is the bottom line

When it comes to chromosomal disorders the evidence says they are most often a random event that no one could have known about or prevented.  But here is the kicker, the age of the parents and exposure to substances that disrupt embryonic or fetal development (these are called teratogens and include chemicals, drugs, or other disruptive materials) are indeed risk factors for certain chromosome disorders.

These two categories stand out: age and exposure to substances.

Bear in mind that doctors continue to strongly recommend a woman of childbearing age, who may become pregnant, even if she is not planning a pregnancy, should be taking folic acid supplements.  The evidence is in…folic acid reduces the occurrence of birth defects and no doubt contributes to lessening chromosomal damage.  If this isn’t reason enough to watch what we eat and drink and to be cautious around chemicals, well then, what is?  This holds true for both women and men of childbearing age since both partners contribute genetic material.

So What’s the Evidence Saying

As we said at the outset, more and more evidence is substantiating that the two parents are not always and evermore the bad guys passing on ‘bad genes’.  There are other factors that could cause damage early on in the chromosome replicating process and, yes, chemical exposures are at the top of the list.

So taking care of those little genes does make sense but there seems to be a wild card involved so it may or may not affect the outcome.  I’m going to say that the evidence is building.  Therefore the answer to our question will continue to be fine-tuned by the discoveries made in the fascinating field of genetic research. More clarity…its definitely on the way!

What is your experience? Do you agree or disagree with my call on this subject. Please let me know in your comments below.

Do You Agree or Disagree.  Why Not Drop Us a Comment!  Or Share Your Story.  We Will All Benefit From Your Generosity.

Drop Us a Comment! Or Share Your Story. We Will All Benefit From Your Generosity.

4 Responses to “What Causes Chromosome Disorders – Are You Facing This Unsettling News Too?

  • Hi Linda,

    As a woman planning to start her own family, I am concern with the child-bearing risk. It is said that older women tend to produce down-syndrome babies. How soon should I be taking folic supplement to reduce the risk of chromosome disorders?


    • Linda

      Hello Cathy,

      I am so excited for you. This is an exciting time, looking forward to a pregnancy and the ability to bring your precious little one into the world.

      Yes, you have it right, many studies substantiate that an older woman is at higher risk for carrying a down-syndrome child. So, I recommend three supplements, the folic acid, zinc, and a properly balanced and functioning thyroid gland.

      You know the story on the folic acid, but zinc when it is low is a contributing factor to early miscarriages. Besides that, we all know how important it is for our immune system. Hypothyroidism, low thyroid hormones, is critically important. In my reading over the years, one thing that I have learned is that low thyroid can be corrected and when it is, the treating physician, David Brownstein, M.D., has had patients succeed at getting pregnant. How exciting for them and without the expensive infertility clinics.

      Of course everyone is different so you and your doctor should be on the same page. I recommend reading Dr. Brownstein’s books “Overcoming Thyroid Disorders” and “Iodine – Why You Need It and Why You Can’t Live Without It”. Both books are interesting and very insightful.

      Remember that your blood cells are replacing themselves every 24 hours, the major organs about every three months, and bone marrow annually. So I recommend a regimen of these vitamins for at least 6 months. It would be even better if it was a year thus giving your body plenty of time to rebuild and rejuvenate at the cellular level.

      I hope you found this helpful! Please don’t hesitate to touch base with me regarding anything. I would be honored to support you in some small way as you prepare to welcome a child into your life.


      • Hi Linda,

        I really appreciate your thorough reply on the subject matter. Now you got me thinking about my thyroid too.

        Thank you for helping me plan this out.

        • Linda

          Hi again, Cathy,

          I am grateful that you found my answer sufficient for your needs. And thinking about your thyroid is a very good addition to finding your healthy balance while thinking about bringing your bundle of joy into your life. Be cautious about what a doctor may tell you about thyroid tests. Dr. Brownstein does a very good job of highlighting some of the issues around the current tests used to determine thyroid function. It’s worth getting that foundational knowledge in place.

          I’m excited for you and send you best wishes and loads of smiles.


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