Tails, We Lose

Diagnosis

Dave tested positive for SCA 3. He has the same number of CAG repeats in the ATXN 3 gene as his dad does (70) which thankfully means his symptoms should not onset any earlier than his dad’s did. This hopefully gives him until his late 40s (15+ years) before he starts to be affected by the disease. We can hope that perhaps by the time he develops symptoms treatment may be available, although we cannot depend on this. At Dave’s request the genetic counsellor is referring him to a neurologist, so that they can give him a check over to determine his baselines i.e. his ‘normal’ for a neural examination, and to discuss his diagnosis.

We were mentally prepared for this, at least as much as someone can be. Out of a sort of self-preservation Dave has always lived under the assumption he had the disease. We already had set up high mortgage repayments with a goal to pay off our mortgage sooner rather than later to secure our home. We found an insurance company that would provide life insurance without needing to rule out hereditary illness. As I pointed out to Dave before the results came through, the test was purely for logistical purposes. It doesn’t change anything, it just gives us the opportunity to be prepared mentally, physically and financially for if a treatment is not available by the time he experiences symptoms. It also of course will inform our decision on how to proceed with starting a family, knowing that we don’t want to pass the abnormal gene on.

There is a 50% chance of inheriting SCA3 from an affected parent.

Our options

The genetic counsellor explained the diagnosis, and answered the few questions we had before returning to the topic of our looking at starting a family. She revisited our options, though we had already made up our minds. I have laid out the options together with my own thoughts below:

1. Amniocentesis - getting pregnant and testing the foetus at 11 weeks by sampling the amniotic fluid. This leaves you in an awful position - what do you do with this information? Do you intend to terminate the pregnancy if the foetus tests positive? 11 weeks is a long time to carry a foetus anticipating such a decision and potential outcome. But is it ethical to have the child knowing that you are sentencing it and potentially subsequent generations to succumb to this disease if medicine hasn’t produced a cure by the time it experiences symptoms?
2. Pre-implantation genetic diagnosis (PGD) as part of in-vitro fertilisation (IVF). Firstly, it is important to clarify that no genetic manipulation/modification occurs as part of this process. The embryos that are produced from eggs harvested and fertilised during the IVF process are sampled and tested, and from among the viable embryos that do not carry the disease, one would be selected for implantation. Any other healthy embryos would be frozen for potential future use, while any that tested positive or were otherwise unviable would be discarded. There are strict criteria in New Zealand around eligibility for such testing, and also around public funding for IVF and PGD.
3. Conceive naturally without genetic testing. Is this ethical, knowing that there is a 50% chance of passing this disease on, and knowing that there are options to avoid this?
4. Opt not to have biological children. We could look at adoption, or foster a child. Or focus on our ‘fur family’ - our two very much loved rescue dogs.

Finally, is it ethical to test a foetus at all? Does screening for genetic conditions undermine the value and existence of people who have been and will be born into our communities with disabilities? As you know, for us there is no place for theology in this discussion.

Herein lie the ethical dilemmas of looking at starting a family in the face of hereditary genetic illness. Following much Googling and discussion, we had already made up our minds before this appointment. We asked for the genetic counsellor to refer us to Fertility Associates so that we could start the process in applying for PGD. There are strict eligibility criteria for IVF, PGD and public funding for these in New Zealand. Given Dave’s diagnosis for a hereditary disease that has a 50% chance of being passed on, we are optimistic that we will meet the criteria. In the meantime, we await contact from Fertility Associates to set up our initial appointment. We hope that we will find out sooner rather than later whether we are eligible, and how long the wait list is so that we can manage our expectations and plan.