AW: Genetic Results (XP CAL)
Apr 28, 2016 12:21:01 GMT -5
Post by iheartbroccoli on Apr 28, 2016 12:21:01 GMT -5
We had our appointment with the genetic counselor, and I'm still shaking. The appointment did not go at all how I was expecting.
Basically, there are a few genes that determine how organs are developed. And there are some known abnormalities of these genes that cause the organs to not develop correctly. Theo did NOT have these abnormalities, but he did have variants of these genes. I forget what the genes are called, but the doctor is sending me the report so I can read it.
The doctor said the key was that what they found were variants and not abnormalities. The variants they found have never been reported before, so they literally know nothing about them. They could be mutations that have never been reported before, they could be a genetic disease we carry, or they could be harmless variants that aren't actually the cause of his lung issue (unlikely, but it's a possibility).
So more testing needs to be done. MH and I are going to the lab today to have our blood drawn so they can test our genes for the variants they found. The doctor said that will help them know more about the variants. If we have them, it's very likely it's a genetic disease they haven't discovered before. (And then begs the question how are we living if we have those genes, but that's a bridge we'll cross if we come to it.) The testing of our genes will take about a month.
If our tests come back negative, there is an incredibly small chance of this happening again. The doctor said it's as close to 0% without actually being 0%. If one (or both) of us carry the same variant, our chances jump up to 25%.
I'm so angry and scared. I was never entirely sure I wanted children, and literally decided the month before we got pregnant that I wanted kids, but I wanted to wait a few more years before we started trying. Theo was an accident, and I feel like this is some cruel joke. He was taken away from us, and now we may have some rare genetic disease that could prevent us from having a healthy, living child, and we learn this after I decide I want another child. I feel like the universe is playing a sick joke on me. I'm scared this will happen again, and I'm scared we may not be able to have children.
I tried talking to MH about what are next step will be. I'm a planner, and I need to know what we'll do if our results come back that we are carriers. I wanted to know if he was open to adoption or even doing something like IVF with PGS (if we even can, I don't know much about IVF so I'm unsure if this would be the step we take...). He's not at the point where he can think about that, but he agreed to think about it the next couple of weeks and let me know if he's even open to those possibilities. I need to have an idea of what we can do next so I can start preparing (for what exactly, I don't know yet.). I guess I'm grasping at things I can control right now...
Basically, there are a few genes that determine how organs are developed. And there are some known abnormalities of these genes that cause the organs to not develop correctly. Theo did NOT have these abnormalities, but he did have variants of these genes. I forget what the genes are called, but the doctor is sending me the report so I can read it.
The doctor said the key was that what they found were variants and not abnormalities. The variants they found have never been reported before, so they literally know nothing about them. They could be mutations that have never been reported before, they could be a genetic disease we carry, or they could be harmless variants that aren't actually the cause of his lung issue (unlikely, but it's a possibility).
So more testing needs to be done. MH and I are going to the lab today to have our blood drawn so they can test our genes for the variants they found. The doctor said that will help them know more about the variants. If we have them, it's very likely it's a genetic disease they haven't discovered before. (And then begs the question how are we living if we have those genes, but that's a bridge we'll cross if we come to it.) The testing of our genes will take about a month.
If our tests come back negative, there is an incredibly small chance of this happening again. The doctor said it's as close to 0% without actually being 0%. If one (or both) of us carry the same variant, our chances jump up to 25%.
I'm so angry and scared. I was never entirely sure I wanted children, and literally decided the month before we got pregnant that I wanted kids, but I wanted to wait a few more years before we started trying. Theo was an accident, and I feel like this is some cruel joke. He was taken away from us, and now we may have some rare genetic disease that could prevent us from having a healthy, living child, and we learn this after I decide I want another child. I feel like the universe is playing a sick joke on me. I'm scared this will happen again, and I'm scared we may not be able to have children.
I tried talking to MH about what are next step will be. I'm a planner, and I need to know what we'll do if our results come back that we are carriers. I wanted to know if he was open to adoption or even doing something like IVF with PGS (if we even can, I don't know much about IVF so I'm unsure if this would be the step we take...). He's not at the point where he can think about that, but he agreed to think about it the next couple of weeks and let me know if he's even open to those possibilities. I need to have an idea of what we can do next so I can start preparing (for what exactly, I don't know yet.). I guess I'm grasping at things I can control right now...
I may have more questions for you later.
