It's been a while. In fact, my last post was about a yard sale I had basically exactly a year ago. In that post, I vowed to never do another. How low would your jaw drop drop to find out I'm having another this week. Go figure...
So, in this year, a couple things have happened. In September, I got pregnant. In October, I miscarried. I had some blood tests done and we discovered I have a genetic mutation called MTHFR, which is an acronym for a really long enzyme that I fail to make. This enzyme is what helps with metabolism of B vitamins, especially folic acid. Folic acid is the vitamin that is known to be so beneficial for growing embryos.
Unfortunately, this isn't the only issue I have to work with. In addition to the MTHFR, as well as my PCOS, which can also cause miscarriages, Oscar and I have also been diagnosed with a connective tissue disorder, called Ehlers Danlos Syndrome. Basically, our DNA has a mutation which tells our body the wrong way to make collagen. Collagen makes up many different tissues and parts of your body. Bones, such as teeth, organs, skin, ligaments, tendons, eyes, and several other things are comprised of collagen. With Ehlers Danlos, these tissues are weaker and more prone to situations such as hernias, prolapses, subluxations and dislocations, joint pain, and even in more extreme cases, aneurysms and aortic dissections. There are many different forms of Ehlers Danlos, at least 12, and they have some similarities, and a few key differences. Some of the forms are not as dangerous as others, but some are dangerous indeed.
Our doctor thinks we have a relatively non-risky form called Hypermobility EDS, or Type 3. It's also possible we have Classic, Type 1 or 2. Without genetic testing, it's hard to say, and insurance companies are stingy with the testing, so since the treatment really won't differ between those types, we haven't been tested for our specific variant yet.
It's a genetic disorder, and in our case, it's autosomal dominant, which means it only takes one copy of the gene for the disorder to present itself. Oscar got it from me, and I got it from my family, most likely. It can happen as a random mutation, but in my case, there are family members with similar symptoms.
Anyway, we've been seeing doctors for our issues and so far all looks good. I just need to lose weight and build muscle mass. For Oscar, we need to encourage muscle mass and low-impact physical activity. He and I have been swimming a lot this summer, so I'm hoping it's paying off.
Anyway, this disorder also has a nasty reputation for causing pregnancy-related issues like miscarriage, premature rupture of membranes, and early labor. So, if we ever have another kid, I will have to be followed by a high-risk doctor.
So that's we were are.
Monday, July 19, 2010
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