Part III – A Conversation with Medical Genetics

After some deliberation, Lyndon and I decided that it was a better idea to equip ourselves with knowledge prior to the birth of our babe, while we still had our full faculties intact (well, mostly intact for me) rather than being in a new parent coma, so I made an appointment with the elusive “genetic counsellor”. I say elusive because I had never heard of such a thing before. After some quick Googling, I learned that these professionals are both trained counsellors and experts in genetics… makes sense.

After getting ridiculously turned around in our local hospital, we managed to find the Medical Genetics wing. We were introduced to a kind looking woman who promptly opened a fairly sizable file and pulled out a genogram! I was delighted! A genogram, for those who may not be so familiarly acquainted, is a family tree that includes labels of important events (or in this case, medical conditions, deaths, miscarriages… all those fun things). I love me a good genogram! I have used genograms in my own work with clients and appreciate how much you can learn about a person by looking at family patterns. Not only did our counsellor have a complete record of both of our family histories, she had a printout of all our reports from the start of the pregnancy. This lady came prepared! I shouldn’t have been that surprised… we did fill out a lengthy family history form prior to the appointment. But I legitimately thought that this would just be a vague conversation with a knowledgeable professional… not case specific!

We began by reviewing Lyndon’s side of the family. Through conversation, he recalled a few things he had previously forgotten… some hyper-flexibility, scoliosis, and osteoporosis in the fam. “Here you thought you were getting good genes with me,” he joked. Hmm. Then we reviewed my side of the family and spent some time discussing the history of multiple miscarriages. Was it possible that I was the weak link here? And our baby somehow survived in the womb despite having wonky chromosomes? Oh hello anxiety, my old friend.

We went on to discuss the option of amniocentesis more in depth. We had previously decided that the invasive procedure was not worth the risk; however, if going ahead with it could result in information that would be beneficial for our son’s care prior to his birth, we would reconsider. I didn’t much care for her answer on this one: “Well, it could be beneficial if there is more going on than is possible to detect via ultrasound,” she explained, “Like if his chromosomal array is suggestive of a syndrome that is often accompanied by seizures, for example.” Seizures?! I remembered why I was hesitant to have this appointment in the first place. She did helpfully tell us that our decision today did not need to be our decision tomorrow, so we decided that unless there were concerning findings at our upcoming 28-week ultrasound, we would forgo amnio.

Next our counsellor pulled out a blank piece of paper and wrote “isolated limb difference” at the top. She reviewed that as far as they know right now, Baby E has one issue: missing fingers on his left hand. She then drew four branches coming from the title. The left side of the page read “environmental” and “sporadic” and the right side of the page (i.e. the terrifying side) read “chromosomal” and “syndromic”. These were the four possible causes that could have led to our baby’s seven-fingered fate.

Environmental. Something in the womb disrupted his growth, such as amniotic banding (i.e. tears in the amniotic wall leaving “strings” exposed to baby that wrapped around his tiny forming limbs and disrupted the growth).

Sporadic. A vascular disruption. For no rhyme or reason, the blood stopped flowing to that part of the body and disrupted the growth.

Chromosomal. For this one, she pulled out a binder and showed us a visual of a typical human’s chromosomes. She went on to explain that sometimes, babies inherit a chromosome difference from one side of the family. I actually wasn’t too stressed about this considering neither of us seemed to have any sort of family history that would lead to something like this. She then went on to explain that a chromosomal difference does not in fact, need to be inherited, and actually, most often, it is due to a random gene mutation. One piece of a genetic material can be deleted, copied, transposed, etc. and that one tiny error can lead to all sorts of different results. “How often do genes mutate?” I asked her. “All the time!” she replied. Oh good. “But often, those babies are the ones that miscarry,” she finished. Huh. “Also, certain mutations cause particular syndromes, such as Downs”. I thought about how we had decided to go ahead with an NIPT test very early in the pregnancy (i.e. a blood test that combs the mother’s blood for fetal blood cells and tests for trisomy 21, 13, and 18) and how the results came back very low risk. “Can’t we just do another blood test and have the experts look at all the rest of the chromosomes?”. No such luck. Apparently, the technology to do this is still about five years down the road and of course, it will be mighty expensive when it is available. At least the options of the future look bright (Kind of. If you’re rich enough).

Syndromic. The scariest of all. This is when there are a group of symptoms that are commonly found together and titled a particular syndrome. “So, what types of symptoms are most likely to hang with a hand abnormality?” I bravely asked, “Cognitive? Physical in a cosmetic way? Physical in an internal organs way? Life threatening?”. “It could be any of those,” the counsellor matter-of-factly replied. Excellent.

I mustered up the courage to ask the question that had been burning in my brain since she began talking.

“So, I know you can’t really answer this definitively…” I started, “but given that I have resigned myself to NOT googling for my sanity, and given that you know about all things genetics…” I bartered, “can you tell me, what are the odds that the cause of our son’s limb difference is on the left side of the page versus the right side of the page?” She looked at us hesitantly. I didn’t let up. I reiterated to her that I understood that she couldn’t give me an actual percentage and that I was just looking for her best guess. I told her that everybody in our world was being so optimistic, and I love me some optimism, but I also wanted to be realistic about my expectations. Is there a 50/50 chance that this could be way bigger than we know? HOW optimistic can I be without being naïve?

Slowly, she said, “I would say, based on what we know now, the odds of it being one of these (motioning to the left side of the page) is about 9 out of 10”. I breathed a sigh of relief. I could work with those odds. I assured her that I completely understood that it could very likely still be chromosomal or syndromic. If we were one in 40,000, we could certainly be one in ten. I wasn’t delusional. But I sure appreciated her honesty in that moment as it has truly allowed me to feel some semblance of peace through this time of unknown.

When we exited the hospital that day, Lyndon immediately started chattering about other things happening in our life (e.g. his favourite topic, our upcoming house build) and I looked at him incredulously. “How are you able to think about other things right now?!” I demanded. My mind was replaying our conversation with the counsellor over and over, trying to decide where to file this new knowledge. “Because I feel like that appointment went well!” he explained, “There is good reason to believe that his hand is an isolated incident, so unless I am told otherwise, I will remain optimistic.” How reasonable of him. So after some time to process, I too adopted this mindset. At least 90% of the time.

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