Blog

Say what?!

I know little about this genetic mutation except the two blog posts (MTHFR Part 1 and MTHFR Part 2) I have read over at Loving Our Guts.

I’m writing on my blog about it because it appears that I may have some of the conditions caused by this genetic mutation. The most interesting one of all is that this genetic mutation can cause a woman to bear a child with Down Syndrome. As you may or may not know, my oldest son has Down Syndrome. He was born when I was only 23 years old, and it has always been somewhat of a mystery to me why I had him at such a young age. It is much more common for a child with Down Syndrome to be born to a much older woman, at least in her forties. More curiously, my sister two years younger than me also delivered a child with Down Syndrome, her first, and she was only 18 years of age.

Her child was born first, and her husband at the time was in the Army. She said extensive testing was done to find why her daughter had Down Syndrome and they discovered that her husband had two cousins with Down Syndrome, so at the time we all breathed a sigh of relief and assumed it was “his” side of the family. Even though my niece has Trisomy-21 which is supposed to be random and not genetic at all (my son also has Trisomy-21, in simple terms this means that he has three of the 21st chromosome. At the time of conception, either the sperm or the egg gave both choromosome, instead of only one, hence the third chromosome in every cell of my son’s body. And also why people with Down Syndrome tend to have similar features.)

When I was pregnant with my son the doctor was rather callous and stated (once learning that my niece had Down Syndrome and also that my father-in-law and sister-in-law were born with Tetralogy of Fallot) that we would do an amniocentesis at twenty weeks to determine whether I should continue with the pregnancy or not.

I was appalled. I told him that I would NOT consider an abortion because I was a Christian and I would never kill my baby for any reason. After I told him this, he said, “Fine. Then we’ll just pretend that this is a normal, happy pregnancy.”

I transferred to a different doctor (who wasn’t much better but at least he wasn’t suggesting that I make a decision to abort my child).

When my son was born we did not know, we did not even suspect that he had Down Syndrome. He did not have the typical “look” that one expects when meeting a person with Down Syndrome. The only thing that tipped me off that something was not right is that he did not smile until he was about ten weeks old. This is quite late for an infant. When my son was twelve weeks old the pediatrician suggested we test for Down Syndrome. He said he had suspected it at his birth, but he didn’t want to alarm anyone until he was more certain. He pointed out the Simian Crease, the big space between his big toe and next toe, the smaller than normal pinky finger which had a bend to it. When I called my sister whose daughter had Down Syndrome, she told me to not let the doctor run the tests because he was just trying to make money off of us. You see my sister had seen pictures of my son and she did not detect that he had Down Syndrome. But after the doctor gave me a printout with the typical characteristics I was pretty sure he was correct. And he was.

It was real hard on me and my husband. The world went black for about three days. We were told it was truly as if our son had died. For the child we had grown to love would be “more normal than not” but he would not achieve the life we may have already imagined and anticipated. He would still run and play, talk and laugh, but he would be limited.

At any rate, I have always appreciated that his condition was concealed from us for three months. You see as a youngster growing up our pastor had instilled a fear into us of people with Down Syndrome. “Mongoloids” she called them. “Serpent seed (i.e. A child of Satan)”. My siblings and I used to call each other stupid retarded idiots. Mongoloid idiots. And I was always afraid of people with Down Syndrome. What a blessing that my child’s condition was not revealed at his birth or it could have affected my bonding with him. I loved him so much I never knew it was possible to love another human being so much.

I didn’t start out this post to tell this story, but maybe I needed to tell it.

Let me switch gears… I started this post to tell you about this genetic mutation MTHFR. Actually, I want you to go over to Patty’s blog and read about it, because she has a lot more information than I can give you on it.

I am going to have blood drawn tomorrow and one of the tests I have asked for is to rule out or confirm this genetic condition. If I find that I have it, maybe that is why my son has Down Syndrome. Not because, like was once suggested by my sister’s granny midwife – that a curse had been placed on our blood line that all the first born children would have Down Syndrome. Of course, this granny midwife supposedly prayed to lift the curse but interestingly enough there were no more children born with Down Syndrome, and thirteen more children born to myself and siblings. I don’t believe in this kind of superstitious nonsense any longer.

Okay, so far of the conditions I have seen that could be caused by MTHFR, here are the ones I have:

• Child with Down Syndrome
• Tongue Tie
• Depression, Anxiety
• Chronic Fatigue (no diagnosis but symptoms)
• Possible Suspect Primary Closed Angle Glaucoma (I have not made my appointment to rule this out yet but need to get it done!)

Conditions in other members of my family, my husband or his family

• IBS
• Dementia
• Alzheimers
• Cancer
• Depression, Anxiety
• Schizophrenia
• Addictions: smoking, drugs, alcohol
• Miscarriages
• Depression in Post Menopausal women
• Chemical Sensitivity
• Stroke
• Bipolar Disorder
• Tetralogy of Fallot

There are 57 listed  at MTHFR.net.

You can pay for your own test, it costs $150.

If you have Labcorp and your doctor will order the tests, here is the numbers you want to request:

• 511238 Methylenetetrahydrofolate Reductase (MTHFR) Thermolabile Variant, DNA Analysis
• Homocystine 095638 Amino Acid Profile, Quantitative, Plasma

A few points that jumped out at me from Patty’s post that I want to highlight (italics are direct quotes from Patty):

• The person with MTHFR has trouble converting folic acid, one of the B vitamins, into methylfolate
• People with MTHFR need certain vitamins, Patty lists them in the 2nd post.
• You’ve gotten a test for folate and B12 and the results are at the high end of the range (that’s me!) but you still have fatigue. “However, that blood test looks for all forms of those vitamins and measures them together. You might have very high levels of the inactive forms and virtually none of the active methyl forms. So while you have lots in your blood your tissues are starving because the inactive form can’t get in.”
• “Glutathione is created in your liver and one very important thing that it does is to help to detoxify the body from heavy metals. Interestingly enough mercury breaks the next step in the metabolic pathway after the one that MTHFR break. If you are exposed to mercury and don’t make enough glutathione then your body can’t get the mercury out. That mercury impairs the process that should make more glutathione which is necessary to detoxify the body of the mercury…. It’s a vicious cycle. Amalgam fillings and vaccines are two ways that many of us have been exposed to mercury over the years. If you don’t have enough glutathione in your body that mercury that you were exposed to many years ago is still there. It can’t get out.”
• Don’t take any vitamins that contain folic acid or regular B12. Avoid foods fortified with folic acid.
• Duck liver is the best source of folate. 738mg per serving.
• “Those of us with MTHFR mutations especially need methyl folate.”
• It’s really, really important to detox, epsom salt baths are good and help with magnesium.
• “One important key to this is go slow with the supplements, add one at a time.”
• Take B-vitamins in the morning to help with energy.

Please go over and read through both posts for more comprehensive information. Thank you Patty for sharing your research with us!

Last Tuesday I finally had my appointment with the holistic dentist that fellow GAPSter Andrea Fabry took her daughter to and recommended. I made the appointment initially because I was having some weirdness on the right side of my mouth. I couldn’t tell if it was the top or lower teeth, and it wasn’t really hurting. It was just a twinge or threat of pain, do you know how that feels? There is no way of knowing if it’s going to stop hurting or get worse and that freaks me out a little.

I”m a little paranoid because when I was ten I broke my front left tooth mimicking my stepbrother. I was making fun of how he drank water, only the “glass” that I lurched toward my face was a jar of face cream the lid of which must have been made of cement because it shattered my tooth. I’ll never forget my mother going into hysterics when she saw my broken tooth. She was very pregnant and screamed and cried. Eventually she managed to calm down, but what an effect it had on me. The tooth wasn’t even hurting until the next day at school when finally the nerve throbbed with a searing pain indicating its exposure. Something had to be done because I couldn’t open my mouth or drink water, or eat food. There was a dentist right across the street from school and a visit was made for me there.

I’ve always wondered what the dentist did to make tooth stop hurting. Did he somehow deaden the nerve? I do recall that he ground the sharp edges of the tooth and he told my mother he would grind my other front tooth to somewhat match the length of the broken tooth.

I am going to ask my holistic dentist what that dentist might have done to stop my tooth from hurting.

But let me stop this digression into childhood, and I will also spare you all the horrible dentist experiences I have had.

This dentist visit was nothing like anything I’ve ever experienced in my entire life. Oh, there were the usual things like x-rays taken and the big lighted mirror on the arm in the middle of the room over the chair. Usually when I’m at the dentist I’m rather tense, and more than once I’ve come to been aware that it’s taking all my strength to sit in the waiting room. But this was so different. I was welcomed into the office by the office receptionist. She was very friendly and made me feel very welcome. She informed me that the doctor’s Miniature Schnauzer was in the office that day, and I assured her that I was fine with dogs since I own several myself. After I filled out the necessary paperwork I was taken to a consultation room, an open area where Dr. Meyer sat and asked questions about my dental history as he examined the paperwork I’d filled out. When I shared that my naturopath had left the practice he pulled one of his cards from the side of the desk and hand wrote the name and phone number of a naturopath that he recommended.

After Dr. Meyer and I talked for awhile I was taken to a room right next to the consultation room. Next x-rays were taken of my teeth. I guess that part of any dentist visit will always be uncomfortable as those rectangular things they stick in your mouth are so big that they poke into tender parts of the mouth. I started to get a little bit nervous at that point because it seemed like a lot of x-rays were being taken but then later I found out these are digital x-rays which are much safer than the typical x-rays.

Finally the technician was done taking pictures of my teeth. As she took each x-ray, they immediately showed up on the computer screen beside the chair. No more waiting for x-rays, they showed up after a split second. Next Dr. Meyer came into the room.

“Hi Ho Silver!” he exclaimed as he looked at the x-rays on the computer screen and saw all my amalgam fillings. He announced that I had eleven amalgams! I asked him how did I have eleven when I’ve only counted nine? He showed me that two of the fillings are small and on the back corner of two molars. He also told me on most people, if you look at the decay and fillings in their mouth you will find that both sides are identical. I had never heard that before, and indeed, those two small fillings are in the same place on the molars on each side.

He began examining my teeth, using words foreign to me. At one point he said something, I think the word frenulum and I said, “Oh, does that have anything to do with a tongue tie?” to which he replied, “I haven’t checked that yet.” I just read about tongue tie at Loving Our Guts which also happens to be a “condition” of the genetic mutation MTHFR which I am suspecting I may have (read this post by Patty at Loving Our Guts to learn more in layman’s terms about MTHFR). I’ve heard of tongue tie, but never imagined I had one since I thought a person with a tongue tie would have a serious speech defect.

A moment later he confirmed that I have a tongue tie. He said I had obviously learned to compensate since it hadn’t affected me and he didn’t think I would need to have it fixed.

When he pricked my gums to see if there was any bleeding, which I believe is to indicate gum disease? He said there was barely any bleeding. Interestingly enough, when other dentists have pricked my gums it usually feels as if they were stabbing me. The pokes he made were so light that I could barely detect them. Of course he was wearing gloves the entire time and he put his finger into my mouth under my tongue to feel for any abnormalities. He felt around the top of my mouth and alongside the gum line. He felt my lymph glands and my throat.

At one point he mentioned the staining on my teeth. I asked him if he meant the grey staining? The stains that make my teeth look like they are becoming transparent? He assured me that my teeth were not becoming transparent and this was simply staining. Hallelujah! A dentist that can see the grey staining on my teeth and assures me they can remove the stains easily with pumice cleaner. (My other dentist couldn’t see the staining and neither could the lady who does the teeth cleaning! I thought that was pretty weird. I told her that what Baden had said about how her dentist was able to remove stains and she tried to clean my teeth but couldn’t remove the grey. I am anxious to have Dr. Meyer’s office clean my teeth, it will be nice to get my pretty white teeth back!)

Finally he took a pen camera and took pictures of all my teeth. Each picture showed up in full color on the computer screen. He found that I have no gum disease and not much plague. And then he found the cavity. The weird pain I was having on the right side was radiating from my only crowned tooth. He asked me how old the crown was, and I told him I thought it was less than a year old.

But I was wrong, the crown was done in June 2010. Time flies.

Dr. Meyer says the cement that is supposed to protect the base of the tooth is gone. He says the other dentist should warranty his work.

I am very pleased with Dr. Meyer and with my limited experience with him I would definitely recommend his office. He does not take insurance, but that is perfectly okay with me. He knows how to protect me when removing amalgams and I am willing to pay the money to have the job done correctly.

I will receive an email with an estimate of what it is going to cost to remove my eleven amalgams. I would love to have the work done right away, because it is common for amalgam fillings to affect thyroid function. Unfortunately I do not have the money to get the work done right away and will likely have to do one at a time over the next couple of years.

At least I have taken the first step and found a doctor, and have had an examination.

That is a good start.