I spoke with the Genetic counselor after my post yesterday and she stated she is positive it is genetic condition, however, it may be caused by an autosomal recessive gene or by a fluke dominant gene.
If it is determined to not be Smith Lemli Opitz, then it could mean two things.
1. This was a fluke caused by a dominant gene, with a less than 1% recurrence risk.
2. We have an autosomal recessive condition which they are not able to identify, which means we have a 25% chance of it happening again.
The latter will be the worst situation for us, as this eliminates many early or pre-pregnancy screening options for a healthy pregnancy as they wouldn't know what gene is the cause.
We were given some good news yesterday, our genetic counselor stated that there were samples of Faith's liver left from her autopsy, which is the most optimal tissue to test for Smith Lemli Opitz (SLOS). Not only is this a cheaper test, but we will get the results in 2 weeks. There still is a chance that my husband and I will have to be tested as carriers, but we are waiting until it is absolutely necessary.
At this point, I am definetly torn between hoping to find the cause and hoping that it is a fluke, knowing if it comes back as a fluke, it may be possible that it is not a fluke at all.
If it is determined to not be Smith Lemli Opitz, then it could mean two things.
1. This was a fluke caused by a dominant gene, with a less than 1% recurrence risk.
2. We have an autosomal recessive condition which they are not able to identify, which means we have a 25% chance of it happening again.
The latter will be the worst situation for us, as this eliminates many early or pre-pregnancy screening options for a healthy pregnancy as they wouldn't know what gene is the cause.
We were given some good news yesterday, our genetic counselor stated that there were samples of Faith's liver left from her autopsy, which is the most optimal tissue to test for Smith Lemli Opitz (SLOS). Not only is this a cheaper test, but we will get the results in 2 weeks. There still is a chance that my husband and I will have to be tested as carriers, but we are waiting until it is absolutely necessary.
At this point, I am definetly torn between hoping to find the cause and hoping that it is a fluke, knowing if it comes back as a fluke, it may be possible that it is not a fluke at all.
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