It’s all in the genes…..

So the time came for us to see the geneticist, we arrived at our appointment not knowing what to expect really.

After being called in we sat down and the genetecist started giving us the lowdown on what was going on.

As you all are aware (if you have read my previous posts) Jonathan has a rare condition called syringomyelia where cysts form in the spinal cord. He also suffered from Chiari Malformation which is where part of your brain is pushed into the spine, he had brain surgery to correct it when he was 15. One of our fears is that the conditions may be passed on to our children.

So after going through the family history and trying to give as much information as possible the genetecist explained that there has been very little research into the genetics of his conditions and there is no genetic test that is available at the moment that would be able to give us the answers that we want. She then went on to explain that from the little research that has been done there is a small chance that the conditions can be passed on. Unfortunately there just hasn’t been enough research done into the genetics of both conditions.

The genetecist then went on to explain that as there are different types of Chiari malformation (one type shows up prenatal and the other only shows up in the teenage years or later) I can have an MRI scan to show whether or not the baby has the condition or has a condition called tethered spine which our baby might be at risk of. The MRI would need to be done when I am 24 weeks pregnant and if it is shown that the baby has either condition then they would recommend termination.

Both Jonathan and I left the appointment with heavy hearts and we both knew we had to have a discussion as to what we were going to do next.

So we talked at length and both agreed that the risk (no matter how small) of passing on the conditions was too high for the both of us and it was a risk we were both unwilling to take.

So where did that leave us? Well after at lot of tears and talking we came to the decision that we still wanted to go ahead with the IVF but we would use donor sperm, that way there would be no passing on the conditions that have plagued Jonathan.

Next was to wait for an appointment to see the fertility doctors once again and find out our options and to get started with treatment!

8 thoughts on “It’s all in the genes…..

  1. Aww, love to you both as I know the decision couldn’t have been an easy one for either of you. Wishing you good luck from my heart on the next part of the journey and I know the baby when he or she arrives will be loved unconditionally. Xxx

    Liked by 1 person

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