Donor Conception

How A Genetic Mutation Could Have Cost Grace Her Donor

Eloise Edington  |   26 Oct 2021

You may know Grace and Catherine (previous guests on the Fertility Help Hub podcast) as the couple who were one of our eight successful applicants for a round of free IVF.

For Grace and Catherine, the process of selecting a donor was not easy by any means – the experience was arduous and caused some soul searching, as well as the unforeseen mishap of overlooking a crucial medical note on the couple’s chosen donor.

By Grace

Narrowing down donor choices

It’s essential to be on the same page when it comes to selecting a donor. My wife and I had a veto rule – if one of us said ‘no’ to a particular sperm donor, it was a ‘no’ from both of us. The browsing and shortlisting process actually helped us figure out and refine what features were important to us in a donor.  We already knew that we wanted more information on a donor than what we could obtain if using a UK sperm bank so we started off in agreement that we would look abroad.

We are using my wife’s eggs and I will carry our child. As a high achiever and fierce competitor, my first reaction was to use the drop-down filters on the websites of sperm banks to select donors with a postgraduate degree, GPA over 4.0, plus a variety of physical features that were far too specific and left me with precisely zero donor options. My wife commented that I was setting the bar rather high, so I stopped screening donors quite so precisely since, after all, I wasn’t hiring them to work for my company.  However, it wasn’t until I found our sperm donor’s profile and my spider-sense tingled, that I came to understand that a mixed-race donor was very important to me, so that our child, to whom I will not be biologically related, might visually resemble me – at least in skin tone.

You’re not choosing a husband or a father either

For the vast majority of couples, the donor, be it egg or sperm, will not be part of the child’s daily life and it’s important to remember this. With the sperm bank, it was hard initially not to be swayed by donors who had written eloquent personal statements about their love of music, golden retrievers and long walks on the beach, with psychometric profiles that seemed to conclude they weren’t axe murderers. However, when we talked about it honestly, my wife and I came to the mutual conclusion that really what we needed was tried-and-tested sperm (meaning previous pregnancies achieved) with a clean bill of health across their family tree and a racial fit. After all, we are choosing a donor to make a baby, not a man who will be part of the process of bringing up our child.

A spanner in the works

We actually purchased our sperm before we started fertility treatment because there were only two vials left and we didn’t want to lose out on the unicorn mixed race donor. It was several weeks until we had our various checks at our fertility clinic, CRGH, and then contacted the logistics department to initiate the process of transporting the vials to the UK. While I had visions of the sperm bank posting a test tube to England via Royal Mail special delivery, this is not actually what happens (duh).

There is a thorough paperwork process to be followed, which is a good thing, and it brought to light that we had missed something rather important, buried among the tonnes of information and cute baby photos we had in the donor profile. We had simply overlooked it out of a lack of experience and medical understanding. The fertility clinic pointed out that our donor was the carrier of a recessive genetic mutation. Cue crazy amounts of Googling.

The impact of a genetic mutation

Disclaimer here: we are not doctors, but the simple explanation is that if both the egg and sperm donors are carriers of the same genetic mutation, the child will certainly be a carrier and has a high chance to go on to exhibit signs of the disorder, some of which have the potential to be life-threatening. If the mutation is carried by one donor only, the child might be a carrier but the disease has a tiny chance of manifesting. Everyone has some sort of genetic mutation – most are pretty harmless – but the ones that are screened for the purposes of sperm donation in the US are the more serious ones. You cannot catch a genetic disorder – it’s hereditary. One example you are likely to have heard of is cystic fibrosis.

What is genetic counselling and testing?

We appreciate that not everyone has access to genetic test results, depending on where donors come from, and indeed couples who are not using a fertility clinic are very unlikely to be aware of their carrier status at all.

However, finding out about the donor’s genetic mutation carrier status had several practical consequences for us. Protocol insists that we undergo genetic counselling through our fertility clinic. Otherwise, we’d have to change our donor. Having been specific enough in our quest for mixed-race sperm, we didn’t want to do a knee jerk swap, so ahead we went with the genetic counselling.

What is genetic counselling? Genetic counselling entailed a one-hour session with a fertility specialist, who explained in very clear terms how genetic disorders can be passed down, stated the statistics and prompted us to think about the risks we might be prepared to take versus how thorough we really needed to be with a screening of my wife (if that was what we wanted to do).

Testing entails more expense but, in terms of process, only involves a blood test which was arranged by our fertility clinic. It takes on average 4-5 weeks for the results to come back. There are also different levels of screening, depending on how thorough you want to be with the list of genetic mutations tested.

A moral quandary – to test or not to test

Most couples don’t have access to genetic information so we were already starting from a position of more knowledge about the health risks to our (still currently imaginary) child. Some would say knowledge is power. However, I still felt somewhat morally conflicted. If we had genetic test results for my wife too, would we be playing God and veering in the direction of creating a designer baby?

On the other hand, I know that I would never forgive myself if we declined the test and then our child was condemned to a life of suffering. My wife agreed it was a no-brainer to do the test.

Then we had to figure out how thorough we wanted to be with my wife’s tests. We could test for that one specific mutated gene or a much broader list of genes. The price difference was pretty negligible in the grand scheme of IVF, but this wasn’t the only factor to consider. How much information is too much information to have? The results could show my wife was a carrier of that particular mutated gene, in which case it would be a definite no to the donor and back to square one. But a broader test might show she was a carrier for something else and we might spiral further into worrying about passing that recessive gene to our child. There’s enough worrying involved in IVF. Again, every couple is unique, but we chose the second option – to test a broader range of genetic disorders.

The four-week wait

Everyone talks about the two-week wait, but the four-week wait for my wife’s genetic test results was more intense than we expected. I threw myself into work as a distraction. It was a huge relief when results came back showing my wife isn’t a carrier of that gene, or indeed any others tested for. We can go ahead with our first-choice donor. As soon as we had the results, we gave the approval for our clinic and sperm bank to ship the sperm to the UK.

Wish us luck

FINALLY we have begun treatment and my wife starts her stims this weekend. It’s been a rollercoaster already!

What I wish I’d known before all this:

  • Choosing a sperm or egg donor is an emotional process – don’t underestimate how long it may take
  • Read the scientific bits of a profile first
  • Check-in with your fertility clinic before buying sperm to make sure it is suitable
  • Recognise that there are limits to the amount of information that is truly helpful
We hope that reading about Grace and Catherine’s personal donor selection experience will help our readers learn more about the process and the possible pitfalls to beware of. There may not always be a simple and clear choice when picking a donor but it should help to have an idea of an achievable standard that you may have for your prospective donor.

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