I mentioned in one of my earlier posts all results came back normal from the Amnio micro-array test, which is great news, however, after an additional conversation with our genetic counselor today they have decided to attempt to test Faith's remaining amniotic fluid for a genetic disorder called Smith Lemli Opitz syndrome.
The research I have conducted on Smith Lemli Opitz, indicates that it is an autosomal recessive disorder, which requires both parents to be carriers, similar to cystic fibrosis and sickle cell disease. Parents who are both carriers have a 25% chance of passing this syndrome on to their children.
The children diagnosed with this syndrome are unable to make cholesterol, which can result in various "malformations", most of which Faith did not have, however, the severity of this syndrome can vary from very mild to severe, none the less may cause many complications during development. Faith’s small size and low amniotic fluid are two reasons the genetic counselors are leaning this way. (Smith Lemli Opitz Foundation)
There is no guarantee that Faith's amniotic fluid will be able to be tested any further as her sample came from July 1, in this case I'll be tested to determine if I am a carrier. If I test positive, my husband will then need to be tested to confirm. I am hopeful they can get everything they need from Faith's amniotic fluid, as we would get the results in 3 to 4 weeks, if not, then we will not get results for several months.
While this is considered a rare genetic disorder (1 in approx. 20,000 births), it is one of the most common of the rare disorders. Because of this there are several options to allow us to still have healthy children, we'll just have a few additional decisions to make.
I'm still not sure with the accumulation of everything what the chances are that this was just a fluke. Right now i'm taking it day by day and following my heart.
This is starting to feel like the beginning of a long journey.
The research I have conducted on Smith Lemli Opitz, indicates that it is an autosomal recessive disorder, which requires both parents to be carriers, similar to cystic fibrosis and sickle cell disease. Parents who are both carriers have a 25% chance of passing this syndrome on to their children.
The children diagnosed with this syndrome are unable to make cholesterol, which can result in various "malformations", most of which Faith did not have, however, the severity of this syndrome can vary from very mild to severe, none the less may cause many complications during development. Faith’s small size and low amniotic fluid are two reasons the genetic counselors are leaning this way. (Smith Lemli Opitz Foundation)
There is no guarantee that Faith's amniotic fluid will be able to be tested any further as her sample came from July 1, in this case I'll be tested to determine if I am a carrier. If I test positive, my husband will then need to be tested to confirm. I am hopeful they can get everything they need from Faith's amniotic fluid, as we would get the results in 3 to 4 weeks, if not, then we will not get results for several months.
While this is considered a rare genetic disorder (1 in approx. 20,000 births), it is one of the most common of the rare disorders. Because of this there are several options to allow us to still have healthy children, we'll just have a few additional decisions to make.
I'm still not sure with the accumulation of everything what the chances are that this was just a fluke. Right now i'm taking it day by day and following my heart.
This is starting to feel like the beginning of a long journey.
Photo from: http://learn.genetics.utah.edu/content/disorders/whataregd/slos/
2 comments:
I didn't mean to post and then delete it....my computer freaked out on me.
I did want to say that I'm thinking about you guys and hope you get some answers soon. I don't know what the right thing to hope for would be at this point, but I hope your journey gets easier. I truly do. Thinking good thoughts.
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