A reality of life with ichthyosis is that we are almost constantly having to explain it to someone. We have come up with our canned responses, kid-friendly explanations, and quick answers to avoid conversations with well-meaning strangers. We have learned how to field inappropriate questions and uncomfortable conversations. We also have learned how to read when people want to ask a question, but don’t quite know how to go about it. I knew that when I got pregnant people were going to have questions. Ichthyosis is a genetic skin condition and Harlequin Ichthyosis is double recessive condition, which is why it’s so rare. Casey and I each have a different mutation on the same gene. This means that there is a 25% chance that any child we have will have the same skin condition as Olivia and a 50% chance that any child we have will be a carrier of one of the two mutations. These numbers are always swirling when we talk about future children, whether between the two of us or when others ask.
I knew that an invasive (although generally well meaning) question that would come up would be whether this baby has Harlequin Ichthyosis. At the end of the day, it doesn’t change anything for us. As Catholics, we are open to life. This doesn’t mean that weighing decisions about whether to have more kids or not comes lightly, it just means that we are committed to bringing those kids into this world if a pregnancy does occur. So, I want to share a little about WHY we chose to get an amniocentesis and find out if this baby has the same skin condition as Olivia.
When I was pregnant with Oscar and we were discussing what genetic testing we would opt-in for, we weren’t really sure what to do. We weren’t ever going to end a pregnancy, so did it really matter? Our midwife said something that has stuck with me ever since: “You could get the genetic testing done just so that people have time to get over it.” What she meant by that is that if we have that knowledge than we can choose how to educate ourselves and how to educate family and friends on how to support us. Now that we’ve been surprised at a birth with very little answers, I can’t agree more with what that midwife said. I knew that if we could find out if this baby had the same condition as Olivia that there is a lot that we could do to prepare our families, our home; and maybe most importantly, the hospital staff, doctors, and nurses in Labor and Delivery and in the NICU. We know what adhesives work and which ones don’t work at securing PICC lines, IVs, and an intubation tube. We know that Aquaphor was really hard to get at first when Olivia was transferred to UCSF because the NICU didn’t regularly store big tubs of it. As parents, we could come in with a lot of first hand experience. We wouldn’t have to hear, “we are figuring this out along with you.” We could make much better informed decisions. I knew that I wanted to know as early as possible if this baby had the same condition as Olivia, not because it would change anything about how I felt about the baby or my excitement for adding a little sibling to this family, but because it would provide the best outcomes for the baby.
This is part of life with a rare genetic disorder in the family: you learn how to let go of plans. You learn how unpredictable and precious life is. You learn how little control any of us really have in life. You learn that there is a thin veil between life and death. You start to get really comfortable in that in between space. And most of all, you get a perspective on how petty and ego-centric so much of the world is. You learn that so little matters when you’ve come face-to-face with a life slipping – or almost slipping – before your eyes. It’s hard to keep that perspective sometimes. It’s easy to fall back into the way of society and the rat race for comfortable living. It’s easy to rationalize that I can plan everything out and it will all go as planned. But it doesn’t take much to pull me back out of it all. It’s often as simple as a too hot car interior or planning a weekend based on access to a bathtub. Or going in for an amniocentesis in the middle of global pandemic. We can plan as best as possible, but we always have to be ready to pivot.
The day we received the results from the amniocentesis we were more jittery to find out the sex of the baby. The focus on whether the baby had Harlequin Ichthyosis or not had dissipated and shifted to if it was a boy or a girl. When the genetic counselor called me she shared that this baby does not have Harlequin Ichthyosis and I cut her off and quickly asked, “Is it a boy or a girl?” She laughed and told me that somehow that page of the paperwork didn’t scan correctly so they had to re-run the test. I ended up finding out that this baby was a girl through an ultrasound, like most people, and not a sophisticated genetic test. What what is that I said? We can plan as best as possible, but we always have to be ready to pivot.