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  • TBC1D24

Family Planning with a Genetic Mutation by Brooke

This blog is really quite specific to families in situations similar to ours, so I hope by sharing I can let some women know they are not alone in facing some difficult decisions about their body and their family. Of course, I know there are men affected too, but I am purely speaking from my experience as a woman and a mother… that’s all I can do because that is all I know. The decisions I make are purely what I feel is right for me and my family, but I understand other families who choose to make different decisions and will always support women doing what is best for them.

With that being said…. Here we go…

As most people know by now, Daniel and I have 2 children, Ariella and Sofia. Ariella has a rare genetic disorder caused by a mutation on a gene called TBC1D24. This mutation was recessively inherited from me and my husband. We did not know we carried this mutation as it is recessive, so we show no symptoms. We also did not discover Ariella’s diagnosis, or know that we were carriers ourselves until Ariella was 3. This meant that when we made the decision to have a second child (Sofia) we did not know there was a risk of her being affected like Ariella. At that point in time we were still hoping all Ariella had was infantile epilepsy and maybe she would grow out of it.

Imagine our guilt when Sofia is 6 months old and we get the phone call that Ariella’s condition is caused by a rare gene mutation…inherited from me and Daniel… and every natural pregnancy will have a 1 in 4 chance that the child will be affected with the condition. We felt so guilty that we made the decision to get pregnant before knowing the risks, but also so lucky and grateful that Sofia was ok (thank God!).

This unique situation left us with a lot of questions around what the future of our family would look like If we want to expand our family further, what were our options to get a healthy baby? After genetic counseling we were given the below options:

1. Natural Conception

As we have no fertility issues we could conceive naturally and have the baby tested at 13 weeks for TBC1D24. Based on those results we could choose to terminate or continue the pregnancy at that stage.

2. IVF & Genetic Testing

Go through the IVF process and PGD testing. This requires going through the traditional stages of IVF, hormone replacements, blood tests and samples. Once the embryos are created, they would be biopsied and sent to a lab for testing to see if they carry the gene mutation. Any embryos that weren’t affected would be considered for transfer.

3. Using a Donor

Use a sperm or egg donor through IVF to ensure that it wasn’t mine and Daniel's DNA making the baby, as we are both carriers of the mutation.

None of these options were particularly attractive. Especially when my husband and I are fertile, young and healthy.

Natural conception was never on the table for us. The only part I liked about this option is that it was the cheapest. We would never terminate a pregnancy, to us it would be like getting rid of an Ariella. We needed to protect the family we have and we know that having another affected child would limit our ability to care for Ariella the way she needs and also to care for another affected child. Let’s not forget we still have Sofia too; she’s not affected but trust me she isn’t a walk in the park to parent! ☺ . The risk of 1 in 4 to conceive naturally was way too high for us, knowing how much it would impact our lives. The risk of 1 in 4 of having to choose to terminate a pregnancy at 13 weeks was too high for us. Again, this is our personal decision, some people choose this option because it is best for them and I totally understand.

Using a donor was discussed, but again it wasn’t right for us. Let alone trying to decide if we would use my egg or Daniel's sperm it just wasn’t something we were comfortable with.

I hated the idea of IVF and genetic testing but it really was our only shot at making sure we would get a healthy baby. I didn’t want to do IVF, I cried after every appointment saying I didn’t want to do it, it wasn’t fair, I’m completely fertile why is this happening etc, etc. I didn’t want to spend the money, and the government doesn’t subsidize PGD testing because its ‘our choice’ to test the embryo so it’s a very expensive process. But then, as you do in life, you suck it up and get on with it and focus on the end goal.

The IVF process was long, it took a year of the IVF clinic working with a lab just to develop the test to be able to test an embryo for TBC1D24 as it was so rare. Ariella, myself, Daniel and our parents all had to send over blood samples to help them identify how they would test an embryo. Once it was confirmed that they would be able to test an embryo we began IVF. The process was the same I assume as most patients who go through IVF, the injections, the scans, the egg retrieval and the transfer. We just had the extra step of the biopsy and the testing.

After my injections I was ready for the egg retrieval, the doctors were happy I had about 20 eggs for collection, I was put to sleep but when I come to I was in a lot of pain and told that the retrieval did not go well. For some reason they couldn’t get a lot of the eggs and they didn’t look mature. I was very sick after the retrieval, and obviously devastated.

Of 20 eggs I ended up with only 3 embryos that would be biopsied.

The embryos were biopsied and sent to the lab. One had chromosomal abnormalities and couldn’t be used. Another embryo had only a 20% success rate and the third embryo was cleared of being affected by TBC1D24. I was still feeling pretty deflated at this point. My body had been through a lot, I thought I was going to end up with all these embryos and effectively I got one good one. I was told I could keep that one frozen and do another round of IVF to try and get some more but the thought of doing that, after how long my recovery was after the egg retrieval was not happening.

So, we proceeded with the one. From 20 down to 1.

It transferred, and it implanted, and it grew, and it is now a little baby kicking away in my tummy.

The journey to get here is not one I ever thought I would have to take, it’s not one I wanted to take, but I’m so thankful that it only took the one round and one embryo to get our baby. Deciding to grow your family when you have a child with special needs requires you to think about everything. How will you care for the special needs’ child? How will you care for your other child? How will you care for yourself and for your marriage? This option of IVF with PGD testing was the only one that worked for our family. I get questions all the time from women in similar situations to me about choosing to have more children. Some women decide just to stop having kids, some decide to try naturally, and some decide to terminate. It’s all circumstantial and the one thing I’ve learnt from this process is not to judge any woman for the choices she makes when it comes to her body.

We are extremely grateful to add another baby to our family, we honestly do not care if it is a boy or a girl, we went through all of this just to get a healthy baby – that is literally all that matters.

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