I feel unsettled. I feel like any minute, the powers-that-be are going to jump out of the sky and say, “You’ve been punked!”. I feel like we are living in a movie plot line and I am but a helpless character stuck in my home, praying that I am not the next person to turn into a zombie and then go on to inadvertently infect others. Let’s be serious, anyone who knows me knows that I’d be “that character” who trips and falls during her epic attempt to escape. ;p
I have had an unfinished blog post sitting open on my computer for quite some time now, but as COVID-19 has rapidly wreaked havoc on life as we know it, I’ve had a difficult time continuing to write about our journey in my usual, light-hearted manner. In all seriousness, what once was certain is no longer in regards to our health care system, and that is a very big deal when you are the mother of a child with significant medical needs. I am used to uncertainty when it comes to Cade’s situation, but what I could always count on was our team of professionals and our solid health care system to take care of us. My security, in this sense, is now gone and I am filled with fears that our hospitals will be overrun with coronavirus patients and non-emergent procedures will take the back burner… “non-emergent” procedures like fixing the bones in my baby boy’s foot so that he can hopefully learn to walk on a typical timeline. To summarize, I am scared. But fear of the unknown is not what we need to focus on in a time like this… what we need is connection (via technology), laughter, and to stay positive, so for now, that’s a wrap on the virus who shall not be named. Time to rewind…
Two-ish months ago, I went out for supper with three of my oldest friends, all three of which happen to be pregnant with their second babies (and third – one’s having twins!)! While I happily sipped my wine (sorry, ladies!), I told them about how Cade was such a good little sleeper and how I was so impressed with this particular sleep expert and her tips for creating healthy sleep habits right from the get-go! They worked swimmingly! As all three of my friends already have one child, they looked at me with skepticism. A couple weeks later, I found out why. Four words: Four month sleep regression.
Month four was hard. Really, really, hard. Waking up every single hour for nights on end not only leaves you incapable of doing anything besides taking care of your tiny human who relies on you, but also incapable of being anything but a miserable human being to anyone who is not your precious wide-eyed baby. Or at least that was my experience. Sorry, Lyndon. Half way into Cade’s fourth month, I reached my tipping point and decided to reach out to a random Facebook group for guidance through this terribly exhausting stage. Half of the total strangers who responded told me to do nothing. The other half said the opposite: If you don’t do something, this is your life now. I decided to act.
That night, we moved Cade into his own room. I devoured every word of a 53-page sleep guide and committed to a plan. Fast forward to now: Cade consistently sleeps through the night and mama is a kind, happy human again (mostly). It took exactly ONE NIGHT of transition and the entire family is now getting a “reasonable” amount of zzz’s… Well, I say reasonable loosely. My alarm, aptly titled “Pump Time!” continues to go off daily at 4:55 am (because I am a
masochist, I mean, mother) which jolts me out of my slumber and sends me into the bathroom to become a dairy cow. And yes, these 40 minute sessions now take place in my tiny bathroom because if I dare set foot into our kitchen (which is wildly inconveniently right next to Cade’s room), Cade will sense my presence with his crazy baby sixth sense and those big eyes will pop open and then it is morning time for all.
A decent amount of sleep has made it exponentially easier to enjoy mat leave and cherish every moment with my little dude! Soon (hopefully) we will be diving into the world of casting and surgeries, so over the last couple months, I have done my absolute best to remain present and soak in every cuddle and giggle. Alas, my bubble was burst a little early by some unexpected results…
At the end of January, Lyndon and I took Cade for an echocardiogram (i.e. a fancy way to say detailed ultrasound of his heart). “I feel like this is probably pointless now, right?!” I remember saying to Lyndon as the day approached. The echo was ordered by our geneticist because heart and limb differences can go hand in hand (hehe, pun intended). Since the echo was not fast-tracked like the rest of his appointments (i.e. brain ultrasound, full skeletal x-ray, etc.), the geneticist went ahead with her analysis sans heart info. We felt comfortable with this since the reason Cade’s echo wasn’t bumped to the top of the list was that his pre-echo screens all measured normal! Further, Cade’s family doctor listens to his heart every month and all has sounded just fine!
“It would be crazy if something actually turned up from this…” I said to Lyndon on the drive to the hospital. I should really know better by now. Facepalm. We didn’t get any results for an entire month. No news is good news, right? Well, not exactly. Lucky for me (not so lucky for her) our family doctor is in our Friday night curling league! On the night we played her team (and won :D) I casually mentioned that we still hadn’t received any results. She promised to look into it and email the report once she received it.
A few days later, I got an encrypted email from a foreign looking program through my account with my Doctor’s office. ‘I have an online account with my doctor’s office?’ I thought. Username and password. Oh great. Several minutes and some swearing later, I gained access and pulled up the report. What I was expecting to read went something like this: Everything is typical. What I did not expect to read were excerpts like this:
Small inferior ASD (secundum v/s sinus venosus) with L to R shunt. Shunt is non-hemodynamically significant.
Pulsatile red flow seen entering MPA in systole. This could represent normal swirl v/s possible PDA v/s AP collateral.
What?!?! This may as well be written in Portuguese!!!
I attempted to decipher on my own. ASD… hmm… In my world that means “autism spectrum disorder”. That’s not right. PDA… “public display of affection”! Bahaha… definitely not right. Okay, Google Medical Dictionary, you’re up.
Google Medical Dictionary made me panic. Plan B. I called my brother-in-law, Dr. Hamilton. Okay, so he’s a dentist but he’s got the right letters in front of his name and he’s the closest person I have to someone who might be able to make sense of this. He assured me that the report didn’t seem hugely concerning, but it was hard to take that comfort at face value given that the last thing the report read was “Follow up in six months.” You don’t follow up when nothing is wrong.
Within the next few days, I was able to speak to my family doctor about the report as well as have it interpreted by a prestigious surgeon who happens to be a friend of a family member. Pays to know people because we have yet to hear from the cardiologist who wrote the report (fair enough given the current state of the world). Long story short, Cade has an Atrial Septal Defect (i.e. a hole in the wall that divides the upper chambers of the heart). Currently, it is small and not causing any significant issues. ASD’s are one of the more commonly occurring congenital heart defects and can close up on their own, so that is certainly the hope!
Secondly, PDA – Patent ductus arteriosus – is an opening between two major blood vessels leading from the heart. The opening is a normal part of a baby’s circulatory system before birth and usually closes shortly after birth, but Cade’s remains open. Like the ASD, a small PDA may not cause problems and might never need treatment… so again, that’s the hope! At this point in time, I refuse to think about the alternative to either of these scenarios.
What I have thought about, however, is whether or not this new information opens doors for potential explanations for Cade’s limb differences that were not previously considered. And the biggest question in my mind: ‘Could there be more going on with our little guy that we have yet to uncover?’ I emailed our genetic counsellor with a copy of the latest findings. She agreed to pass on Cade’s file, along with our questions, to the geneticist. A few days later, I received an email back. It simply read, Would you be available for a phone conversation tomorrow? Immediate anxiety. Whatever she had to say was clearly more complicated than a simple email back. We agreed on 9:00 the following morning.
After a tossing and turning kind of night, 9:00 am finally came and we braced ourselves for more heavy news. “Usually I would bring you into the office to have this kind of conversation,” our counsellor started. Gah! “But given what’s going on, I thought a phone call would work this time.” We put her on speakerphone. Lyndon fed Cade his bottle, and I sat poised with my notepad and pen, ready to take notes. What followed was a completely unexpected conversation.
“I spoke with the geneticist and she feels that all syndromes that involve both heart and limb differences were already tested for in the initial medical genetics assessment.” I felt my heart rate slow down a bit and I breathed a sigh of relief. Long story short, every gene that would be a “usual suspect” for these particular differences, both heart and limb, came back normal. So where does this leave us?
“The next step, if you choose to pursue it, can best be described as casting the widest possible fishing net to see what comes up. It’s called, Whole Exome Sequencing (WES)”, she told us. “Our human genome consists of 20,000+ genes. Of those 20,000, science has identified 6,000 that are, in some way, related to human disease,” she explained. Again, long story short, she told us that we have the opportunity to have all 6,000 of Cade’s genes analyzed for potential explanations for his limb and heart differences. Sounds great, right? Well, there is a substantial catch…
By looking at all his genes with a fine tooth comb, it is very possible that we could learn that Cade has genes that have been linked to disease that has nothing to do with his limb differences – cancer, ALS, dementia, for example. And by association, we would also learn if Lyndon or I had those genes.
Ironically, I have always been a sucker for a good moral debate and one of my favourites is this: If you could know how and when you were going to die, would you want to know? In that moment, I really felt like we were being given the real life version of this ethical dilemma.
“So, if this analysis were to uncover that say, I had the breast cancer gene, how likely would it be that I would actually get breast cancer?” I asked our counsellor. “85% likely,” she answered. Holy man. “Different diseases have different statistics, but there are definitely some genes that can predict disease with staggering accuracy. The question is, do you really want to know ahead of time? There is no right answer to this question,” she told us.
To assist families in making the best choice for them, results of WES can be disseminated in three ways.
- You are given all of the results. This may include the presence of genes that are linked to a disease that there is no way to prevent.
- You are given only the results of the presence of genes for disease for which preventative measures can be taken. You will NOT be told if a gene was identified suggesting that you are highly likely to get a disease and there is nothing you can do about.
- You are given only the results pertinent to the original question (i.e. Is there a genetic explanation for Cade’s limb and heart differences). This option would be most helpful in determining the potential for these types of differences in Cade’s future children as well as our own, if we chose to have another child.
“What are your first thoughts?” our genetic counsellor asked us at the end of a lengthy conversation. Lyndon, demonstrating how completely different our brains work, promptly answered: “How would this affect getting life insurance?”. I looked at him, boggled. We could have had this chat 100 different times over and not once would I have come up with that as my first question. Opposites certainly do attract. Turns out, it’s actually a very smart question! “Currently, there is a law in place that forbids insurance companies from requesting results from genetic testing,” our counsellor informed us. “Politicians are currently trying to have that changed, however,” she continued, “so while you would be protected now, there is no guarantee of that protection in the future.” Huh.
“Amanda, what are your first thoughts?” she asked me. “Honestly… I have always felt like more information is better!” I answered. “In my line of work, I am often faced with the task of delivering difficult news, such as a learning disability diagnosis, to parents. What I tend to remind them is that the only thing that has changed is their knowledge of the situation. Having a label can be scary but it doesn’t change the reality and only gives you more information to handle the situation to the best of your ability. I feel like that line of thinking applies here too,” I told her. “And Lyndon?” she asked. “My first thought is no!” he said. My head jerked up from my note taking… “Really?!” I did not expect to be on two completely different pages. “I’m terrified of dying!” he said definitively. This is something he has always playfully expressed… a fear of death and wish to invent something that will enable him to live forever. “Clearly we have some discussing to do,” I told our counsellor, “and wine to drink,” I added.
We hung up the phone feeling quite perplexed. We tabled the discussion and resumed our daily parenting duties for the morning. It has been two weeks since this discussion took place and clearly, we now have bigger fish to fry. Cade was supposed to see his orthopedic surgeon this Wednesday. Prior to “the virus who shall not be named”, the projected timeline to begin the process to fix his talis bone was now – six months old. Today we got a phone call from the orthopedic office and were informed that his appointment has been postponed. We are to follow up in a few weeks, but for now, we will just wait and see what happens next.
In the meantime, I encourage you to think about our situation and ask your partners… what would you do if you were in our shoes in regards to saying yay or nay to whole exome sequencing? If you learned that you or your family member had a specific disease-causing gene, would you be able to live life normally? If say, you were likely to get dementia, would you feel stressed every time you absentmindedly forgot something? Could you just choose to know the pertinent genetic information or would it kill you knowing that you could have access to more? You’re welcome for the good conversation starter in this time of isolation! 😉
Sending love and positive vibes to everyone during the pandemic. Stay safe and keep smiling, friends! xo