Let me ask you, when you received your child's diagnosis, did you go beyond that?
At 18 weeks, I received Oliver's diagnosis of spina bifida.
Doctors aren't quite sure how genetics or other factors such as your surroundings play a role.
This is because it is drilled into our head, sometimes long before we even consider conceiving.
Statistically, it has greatly reduced the number of children born with neural tube defects, and shown enough evidence to support the connection between the two.
Did you know that folic acid is synthetically produced in fortified foods and supplements?
Folate, one of the B vitamins, is basically the pure, un-enhanced version of folic acid.
Folate is found in foods such as spinach and orange juice.
Because folic acid is synthetically produced, not all bodies break down this vitamin the same.
Like my body!
Being apart of a spina bifida group on Facebook, I had seen a lot of the women talk about being tested for a MTHFR gene mutation.
There are two different mutation types that you could have with this.
One is C677T SNP and the other is A1298C SNP.
It seems like just a jumble of words and numbers, but they both basically mean that your body is unable to break down folic acid and use its benefits.
Now this test is not something that most women who receive this type of diagnosis for their baby link together.
I had no idea this test existed without reading it upon the group.
Oh ya, did I mention that I had it?
Received the mutation from one parent.
Every time a doctor read about my son's diagnosis, they would proceed to ask if I took my vitamins like a good girl or if I happened to be dieting.
I sure was not dieting, and I started taking my pills well before Aaron and I conceived.
Shocking news to the doctors, but they assumed it must be genetic (nowhere in the family had spina bifida occurred to our knowledge).
But I took that extra step and took this test!
Now I knew.... No matter how early or late I took these pills, it would not make a difference.
Here my body was, just storing this foreign substance I kept ingesting... twice a day!
After Oliver was born, my doctor put me on high dose folic acid.
This was before I knew of this test and my gene mutation.
Now that I know of my gene mutation, I know this would not have done me any good.
By good, I also mean other risks of this mutation.
“Genetic variation in this gene may influence susceptibility to occlusive vascular disease, neural tube defects, Alzheimer's disease and other forms of dementia, colon cancer, and acute leukemia, because mutations in this gene are associated with methylene tetrahydrofolate reductase deficiency.”
Taking this test and extra step beyond just receiving and accepting the diagnosis from my doctor, I have hopefully reserved a healthier future for myself and my son.
Because it is a gene mutation, I could possibly pass it on to him so we will one day have him tested as well.
There is sometimes more to a diagnosis than what meets the eye or what is told or assumed by your doctor.
Sometimes there is no other answer.
But I encourage all to do their research and ask questions when things might not make sense.
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