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!

13 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

  2. My heart goes out to you both. These are tough decisions to make and I would never tell you what you should or should not do. If you don’t mind however, I will share our story. At our 20 week ultrasound, a doctor with all the bedside manner of a psychopath, told us flat out that part of our child’s brain was missing (a condition called Blake’s Pouch apparently), there was a chance it would never grow in and started talking about termination options. We were stunned, scared and didn’t know what to do. Fortunately the technician (who was just as shellshocked as us by the doctor’s manner) waited till the Dr. left and said “Look I’m not allowed to contradict the Dr, but she really jumped the gun. Come back in 2 weeks, lets see if the baby has moved and we can get a better picture.” Follow up ultra sounds never did show if the pouch went away, but we now have a happy 28-month-old boy who seems normal in every way. I guess my point is, science is an incredible thing, but doctor’s are still left guessing many times. Genetics is still a lottery. Some people win big and some don’t. I wish you both the best whatever you decide.

    Liked by 1 person

    1. Thank you so much for sharing your story and congratulations on your little one, we have gone with a donor because we felt that any risk is not worth it, my husbands condition is degenerative and He is in constant pain, we wouldn’t want to risk passing that on, we did feel a little deflated after the appointment with more questions than answers but luckily we are very open and had a really long talk about our options. I’m so sorry you had that experience with that doctor, I don’t know how you kept it together. But honestly I’m so glad your baby is thriving!!


  3. insemination is the easiest part about being a parent, it’s everything that comes after that makes you a mummy and daddy you will both be fantastic parents. Stay positive as you will get there.
    Love to you both ❤️


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