One Step at a Time

On Thursday our genetic counselor called to give us an update. They are having a hard time with Faith's DNA sample, which means they may not be able to successfully identify the SLO mutation which she had.

She has given us 2 options at this point:

Option 1. Stop trying to test Faith's tissue and test both of us directly, as this will need to be done at some point no matter what. They would draw blood from both of us and do a full sequencing of the SLO gene at the same time for the both of us. The results of this option will take about 4 weeks and will cost about 695 per person.

Option 2. Attempt testing on Faith's sample left from the micro array. As I mentioned there is only one lab even willing to try and they will not guarantee a result. If 2 mutations are identified from Faith's sample, we would both need to be tested for those specific gene changes. The results will take 10 weeks for Faith's testing, plus an additional 2-3 weeks for confirming the mutations in Christopher and I. This lab is more expensive than most, but is the only one willing to try this path. Faith's testing alone is 1250, and for us is an additional 800.

Option 1 is obviously more efficient and cost effective, however she mentioned it is not technically the best way to go about testing.

The detection rate of sequencing is about 95% in a person diagnosed with SLO. This means that there is a 95% chance Faith had 2 mutations identifiable by sequencing technologies today, but a 5% chance one of the mutations cannot be identified, due to testing limitations. Testing Christopher and I directly means that if one of us tests negative (does not have any mutations identified), they will not be able to know if it is because the baby had one rare mutation that just cannot be detected or if it means something more complicated is going on. Basically, it just gets really tricky to interpret the negative result. Because Faith had been confirmed to have SLO, she fully expects all to go well, but still something we need to be aware of.

With all of that said, we cannot say we will be able to pre-screen for SLO using IVF with PGD until they identify our genetic mutations, and if they cannot identify them, then we have a few things to re-think.

With both of these options, we are not guaranteed to have the results we need for pre-screening, so we are going to just proceed with Option 1. At least this way we will know sooner, and can then determine what's next based on the answers we are given.

I feel like we have taken 1 step backwards after making our decision for future pregnancies. While this is just another obstacle, I have to learn to slow down and take it one step at a time. Right now the next step is to just call the insurance company to see if any of this will be covered.