Thursday, December 18, 2014

MTHFR

I am really bowled over my the latest *thing* in my life, and don't really understand it all, but I wanted to let you know what is going on. Sorry if I don't sound too coherent; I am overwhelmed.

Even though I rarely blog about any of my childrens' health issues out of respect for their privacy, I've mentioned that three of my five children have had serious medical issues. Today after a particular phone call from a doctor, I thought, "wow, my first husband and I were a real genetic train wreck waiting to happen..." Really, I am astounded at how many messed up genes we managed to pass on to our children... I almost feel guilty for it. Like it is my fault for giving them these genes, even though I couldn't help it and didn't know it. I love them all so dearly and it pains me to see them suffer. This latest thing *has* caused my child much suffering but we did not have an answer until today. Apparently he is homozygous for a certain gene defect called MTHFR. You may have heard of this; it's not all that uncommon for people to have *one* gene for MTHFR and often that doesn't affect them so much. But to have *two* copies of the gene, the effects can be pretty bad. You may have deduced as I did that I also have a copy of the MTHFR gene. How it may be affecting me is yet another thing to explore with my doctor, but that is, I suppose, secondary to me seeing the rheumatologist who I have not yet heard from.

The insurance company does not want to pay for the expensive medication my son needs to start. We are trying to convince them. We are also going on a trip to a children's hospital next month to address and assess his other health issues. Oh, and odds are my other son who has liver disease may also be homozygous MTHFR which would explain some of his medical issues. So he really should be tested, too.

I need a break.

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