Whoo writing this while drunk because I won't be able to drink alcohol soon, so enjoying my last few beers for a while. SO to update y'all (I'm from New England yet I say y'all. Someone explain this) I've mentioned before things like my getting engaged. Well Me and the mister are trying to get pregnant. Rather than doing it the fun way, we are working with a fertility clinic. The reason for this is that I was born with a genetic disorder that I do not wish to pass on to my future child(ren). There is a special type of in vetro fertilization than can help bypass my defective gene and skip the 50% chance of my kid(s) developing this disorder.
To get into the science of this, I have a disorder called Neurofibromatosis Type 1. I am open about this because I want people to understand this disorder so when the come across someone else with this disorde they are less likely to be a raging asshole.
NF1 is caused by a defective gene that means my body fails to produce a protein called Neurofibromin. This protein regulages cell growth, among other things. Lacking this protein, people with NF1 struggle to regulate cell growth. The type of cells neurofibromin helps regulate are primarily (but not exclusively) the myelin sheith around nerve cells. Without getting into complicated biology and neurology a myelin sheath insulates a nerve cell to help it conduct electricity the same way insulation around a wire helps it conduct electricity. This means the nerves do not function properly. It also means tumors grow like mushrooms. They sprout EVERYWHERE because the body lacks the protein necessary to prevent this. When a healthy person's body starts to srout a tumor, typically neurofibromin jumps into action and says "cut it out" and cell growth slows and the tumor never fully develops. There are obviously exceptions to this, but this is a grossly oversimplified explanation.
This disorder leads to tumors internally and externally. Internall it messes with a LOT of things. Externally, people treat you like shit. I've had perfect strangers poke a tumor then shout "oh my god are you contagious?!" This treatment has caused me to go through three cosmetic surgeries to look normal. And I'm considered lucky. Google this disorder, it can be devestating. A friend from a support group commited suicide because of the treatment he received by others. He is part of the reason I am so open about this disorder and eager to educate others. Symptoms also include chronic pain, 50% develop learning disabilities, bone deformities most commonly in the shin bones, spinal curvatures, an increased risk for cancer, blindness, deafness, and other tumor-related complications.
As you can imagine I do not wish to pass this on to my offspring. I am lucky. I have a partner who is incredible. He holds my hand every step through living with this disorder, and trying to get pregnant despite it.
Now on to some incredible science that make me wanna cry with amazement. When I was 13 and learned my disorder has a 50% chance of being passed on (it's called autosomal dominant which in a nutshell means there is no such thing as a carrier the kid will have a 50% chance of having it, and a 50% chance of being healthy) At that time, I chose never to have kids. Then, only a bit over a year ago, I learned something called pre-implantation genetic testing. It means they take my eggs, my partner's sperm, and test the fertilized eggs for the gene that marks the disorder. This means they can find which zygotes have it, which ones don't, and implant the healthy one(s). This means despite my disorder I can almost guarentee my kid will never have this. Chances drop from 1 in 2, to less than 1 in 4,000.
This is the cause of my poor update schedule. Between early doctors appointments, followed by long work hours, combined with side effects of fertility drugs, having my eggs harvested, the stress of going through all this to have a child, has interrupted my update schedule.
Thank all of you for your patience, my readers are what keep me going.