Pregnant. Let’s say we didn’t see that one coming! People have asked me here before about having a second child. I’ve always somewhat avoided that question. Writing about it now, in my current condition (18 weeks along), is something I never could have foreseen. Indeed life is what happens when you’re busy making other plans…
Rewind to 2016. We’ve known about the Usher diagnosis for a few months now. It’s an autosomal recessive disorder meaning that two copies of an abnormal gene must be present in order for the disease to develop. A child has a 1 in 4 chance of inheriting the abnormal gene from both parents, 50% chance of inheriting one abnormal gene (making them a carrier) and 25% chance of inheriting two normal genes (and not develop Usher at all). This was all explained to us when we got the diagnosis but most of it got lost or didn’t register with us at the time. In the following months doctors do advise us to look into our options and so we make an appointment at the Centre for Medical Genetics at the University Hospital in Brussels. They explain us about preimplantation genetic diagnosis (PGD). In short, we would start with IVF and only the embryos not affected by the Usher gene would be transferred to my uterus for implantation. It all makes me feel very uncomfortable and for me it’s decided right there and then that this is not the route I want to take. It’s a very personal decision that I cannot really explain. It’s amazing that medical science has come this far and offers this opportunity to parents who are carriers of a rare disease. I do not judge anybody who does choose this route. Even my husband and I have different opinions at the time. Willem thinks the chances of having another baby with Usher syndrome are too many and would rather eliminate the risk. I dread the heavy, possibly very long, and emotionally draining process of IVF. Moreover, I cannot look at Jackson and decide that a second child can only exist if it doesn’t have Ushers. Willem and I agree to let the subject rest for a while.
It’s not as if we’re not busy. Providing proper care for Jackson takes a lot of time. We take some important decisions that will change the way we work and where we will live. Jackson is growing into a happy, non-stop talking toddler. Starting out at a special school for the deaf and then switching to mainstream schooling. We are so very proud of him. The subject of another child does come up every now and then. How a little brother or sister would be amazing, how I used to dream about having a big family. How much we love our own brothers and sisters. Willem tells me that he has changed his mind about eliminating the risk of having another Usher baby, he has grown more confident during the years. We decide to take life as it comes, like we’ve done most of our lives. The odds aren’t exactly in our favor (age and genetics), but having a second child is not a priority nor a prerequisite for our happiness. We’ll take it as it comes, knowing that a second child would be very welcome in our home.
You can imagine our surprise when we found out earlier this year that I am pregnant. Tears of joy, but also stress and fear. I am about to turn 44 and all I can think is: ‘I am too old, there’s too much risk involved, this can only go wrong.’ And then I am not even thinking about the Usher possibility. Willem is determined as ever and convinced this baby will be all right. I am not worried about having another baby with Usher, it’s the not knowing that scares me. Months of uncertainty, always lingering in the back of our minds, people asking questions. I prefer to know it now. I don’t care about the outcome, it has no consequence for this pregnancy. It does have an impact on my mental wellbeing. I want to enjoy this pregnancy and look forward to those special weeks when the baby is born. With Jackson we ended up in this rollercoaster that made it hard to just enjoy the moment. I know I would be excessively focused on the baby’s hearing after birth, anxiously waiting for test results, I don’t want that. Certainty now would bring us relief and peace of mind.
I get in touch with the clinical geneticist who diagnosed Jackson with Usher syndrome 5 years ago. She and I still remember that day like yesterday. She understands our concern and suggest an amniocentesis at 15 weeks. An invasive prenatal test that isn’t without any risk, but I feel in very good hands at the University Hospital of Antwerp. The test is successful and then we wait for the results. Days go by, weeks. Then one afternoon my phone rings, the area code for Antwerp comes up. I tell Willem that this could be it. There’s no hope, no expectation, this will be what it will be. This baby is so wanted. It is indeed the clinical geneticist on the phone. I try to control my nerves, she tells me there is no need to worry: ‘This time I only bring good news….’