Amniotic Banding or Ankle Rolls? – A Long Awaited Appointment with the Geneticist

Setting: Our bedroom. Random night. Sometime past midnight.

Cade (from bassinet beside our bed): Squawk! Cry…

Me (sleepily but hurriedly): Lyndon, you need to get him, I’m pumping!

Lyndon (looking bewildered): Umm… no you’re not.

I opened my eyes. I was in bed. There was definitely no breast pump attached to me. I burst out laughing. “Oh my God, I was legitimately dreaming that I was pumping.” I would love to say that was the first time I had a pumping dream and confused reality with my dream world, but sadly, it is not. I would also love to say that this is the best example of my ongoing delirium, but even more sadly, it is not.

The fact that, currently, it is not physically possible for me to sleep in more than three-hour chunks has wreaked havoc on my ability to function. I used to consider myself a reasonably intelligent woman, but the other night, I officially had to re-assess this notion. I reached a completely new level of exhaustion-induced stupidity. One that prompted me to send friends the following Bitmoji of myself that I feel accurately portrayed my level of horror upon realizing what I had done:

First, long story short, for the past few weeks, I have been exclusively pumping and bottling to feed Cade. This means that every three hours (four if I’m pushing it in an attempt to be social, five if I somehow hit “snooze” for an hour with zero recollection of doing so), day and night, I attach myself to a pump for twenty minutes and become a human milk machine. 

Let me set the scene. It’s 5:00 am. The living room is dark. On the right side of the couch sits Lyndon, silently feeding Cade his bottle. On the left side of the couch, I sit, pumping away. To pass the time, I am intently reading posts from my newest obsession, the very elite, “Exclusive Pumping: Breastfeeding Without Nursing” Facebook group. Solidarity.

Thirteen minutes into my pumping session, I felt a drip on my lap. Damn it, I didn’t screw the bottle on ‘just right’ and sprung a leak. I thought to myself. I sleepily felt around to assess the situation expecting to tighten the bottle and proceed. Wait a minute… I was soaked! My pajama pants were quite literally dripping wet! What the hell?!

It clicked.

Here I had sat, for thirteen whole minutes, pumping milk directly into my lap. I had forgotten to attach bottles to my pump.

“AHHHH!” I shrieked, jumping up. Lyndon looked alarmed. My pajama pants clung to my body. “I FORGOT TO ATTACH THE BOTTLES!” I yelled, running towards the bathroom. I stopped the pump and took off my PJ pants. I kid you not, I could literally wring them out. I didn’t know whether to laugh or cry. Three to four ounces of precious breastmilk could have been squeezed out of my pajamas.

I threw the bottoms into the sink, sulked back to the living room in my undies, and started laughing. I didn’t stop laughing for quite some time. For thirteen minutes, both of us were too sleep deprived to notice I had forgotten to attach bottles to my pump. When later sharing this story with friends, the following questions were asked:

“Did you keep pumping?”

Well of course, I had another seven minutes to go. I got another 40 mL if you’re wondering. Win.

“Did you shower after?”

Well of course not, that’s far too much work. I wiped my legs off with a baby wipe and went back to bed.

And the most popular one:

“How did you not notice that you were soaking wet?!”

Solid question. That is rather unbelievable. I chalk it up to the very glamorous fact that I wake up ridiculously sweaty every three hours anyway (hormones?!) so perhaps I am just used to being wet? I mean, the breastmilk was body temperature. Also, as I said before, I’m perpetually exhausted and no longer have use of my brain.

Despite the fact that I float through life deliriously engaging in the repetitive cycles necessary to take care of my tiny human, we continue to have responsibilities. One of these responsibilities is following up with Cade’s multiple specialists and taking Cade to his appointments.

Last Monday was a day that Lyndon and I had been waiting for since our 20-week ultrasound. It was the day that Cade would be seen by a geneticist. We would be receiving the results of his full skeletal x-ray as well as his chromosomal microarray. It was the day that we may get answers to the origin of his limb differences.

Leading up to the appointment, I felt surprisingly calm. That morning, on the way back to the hospital, I said to Lyndon, “If someone would have told me at 20-weeks pregnant how little anxiety I would feel going to see the geneticist, I never would have believed them.” Don’t get me wrong, there were jitters, but I went into this appointment knowing that the only thing that was going to change was the amount of knowledge we had about Cade’s circumstances. He is here and he is perfect in my eyes, regardless of what we found out today.

We arrived at the check-in desk of the medical genetics department. No one was there. We got our health cards ready and waited patiently. A few minutes later, we read the sign on the door directing us to a different room for check-in. How observant of us.

We checked-in at the appropriate room and were left to wait in the hallway. We had a quick visit with the genetic counsellor we had been working with to this point, then we walked the hallways while we waited to see the doctor with the answers.

The doctor with the answers turned out to give off a grandma vibe! She was an older lady and clearly experienced in her field. She was friendly, kind, gentle with Cade, and a human textbook of everything genetics! “What would you like to learn from this appointment?” she asked us upon introduction. This seemed like a fairly obvious answer: “Why are our son has seven fingers and nine toes…” we started, “and if there may be further differences that we are not yet aware of.” After I pause, I added, “and I suppose what the likelihood is that any future children of ours may be born with differences.” “You’re planning to have more children?” she asked us. Ha. We’re six weeks post birth. Check with me after a year or so when I look fondly back on the newborn cuddles and have conveniently forgotten what it’s like to run on empty for weeks at a time. “Maybe,” I responded diplomatically. “I’ll write yes,” she responded with a smile. Alrighty then.

“Well, his skeleton is typical other than the limb differences and his chromosomal microarray came back normal,” the geneticist dropped seemingly out of nowhere. For long awaited news, the quick unexpected delivery of results was slightly anticlimactic! “Everything came back good?!” I repeated. “Yes.” Lyndon and I looked at each other, both clearly relieved. We went through the details of my pregnancy and our family histories for what seemed like the millionth time (yes, we are still not related to each other) and then we moved to an examination room where she stripped Cade down and examined his entire little body. She took measurements, she moved joints, she checked reflexes, and she made notes of all her findings. Cade was wide awake and surprisingly agreeable throughout the process. He simply looked around the room and barely made a peep. “Hmm… this looks like it could be banding,” she commented, examining his little foot. Isn’t that just his ankle roll? I thought to myself. She turned to the other foot… “Or that could just be little rolls,” she concluded. Nailed it. When she was done, she instructed us to head back to the room where we began. I expected her to follow behind, but she left us waiting for quite a few minutes. She briefly returned once with a tape measure, told us that she forgot to check his head circumference, did so, and then left again telling us that she had to chart the results. I didn’t know what to think.

When she came back to the room she launched into a conversation with us explaining that, often, we never actually get answers to explain these types of things. She said that the next step would be to explore potential genetic origins by looking at specific genes that have been previously associated with limb differences and Congenital Vertical Talus. She expertly rattled off several large words (most of which ended in “dactyly”) that described specific types of differences associated with fingers and toes. As she spoke, I knew that I would never be able to commit every detail to memory, but she seemed to repeatedly say some variation of, “It could be this, but that’s not likely because usually that’s associated with this…”. She mentioned one particular syndrome that can involve limb differences – Fanconi Anemia – that is also associated with bone marrow issues. She said that it would require a blood test and gave us a requisition to complete that, but again, said that she simply wanted to rule it out and “her hunch was that it would not be positive.” She told us that to look further into Cade’s genes, they would send his DNA to places in the United States and Europe! The results of these examinations would take another one to three months.

I felt a little frazzled trying to piece together everything she was saying in my tired brain. “Do you have any questions?” she asked us. I went back to the same question I had originally asked our genetic counsellor in a highly anxious state, “So, in your expert opinion… what is your hunch at this point? Are his differences strictly limb related?”. I held my breath. “In my opinion, yes, I would guess that based on the information we have, his differences are likely limited to his limbs.” I breathed. This is what I wanted to hear. She continued by telling us that she believes that his differences could be genetic in nature, but she thinks it is still very much possible that they are sporadic (i.e. an early developmental disruption in the womb occurred during limb growth). I was flabbergasted. The moment we learned that Cade’s left hand was not an isolated incident, I thought that “sporadic” as an explanation was off the table. “You mean it can be sporadic even though three of his four limbs have differences?” I asked her. “Oh yes… a vascular disruption could occur at the same time that all of the limbs were forming, therefore, multiple areas were affected,” she explained. I pondered this. Clearly, this explanation would be best-case scenario. If there is not a genetic component, then the likelihood that our future children could be impacted would be no higher than random chance. And what are the odds we’re one in 40,000 twice?!

“At this point, I would say that the likelihood that any future children would have limb differences is two to five percent,” she told us. With the information we have right now, however, a safe estimate in regards to Cade’s own children would be a fifty percent chance that they could be affected. But that’s only because we don’t know the cause that the estimate is high.” Huh. I honestly hadn’t even thought about Cade’s own children one day. I filed that information away for later processing.

We thanked the geneticist for her insights and set off for an unexpected trip to the brand new children’s hospital where Cade would have his blood drawn. This was the first time we got to explore the shiny new building that I had once hoped to give birth in, as it officially opened the day after our due date! Beyond the fact that this additional adventure kept us at the hospital for a total of four hours and I was seriously considering milking myself in a bathroom somewhere, the process was fairly typical – i.e. Cade cried because needles hurt, I cried because he hurt, then we all recovered as soon as it was over. This blood sample was to be sent to Calgary to be tested for Fanconi Anemia, but again, this test was done simply to be ruled out.

We left the hospital feeling lighter. Cade has all his chromosomes. His skeleton looks typical beyond the already known limb differences. The geneticist does not believe his limb differences to be linked to a syndrome with associated features. She complimented him on his strength and cute face. This was a win. We may not have gotten any definitive answers, but we didn’t get any bad news either. No news is good news!

Next up, our follow-up appointment with plastics in a couple of weeks! In the meantime, I’ll be sleepwalking through life watching my tiny human grow and change before my eyes. Oh. how I love that perfect little man.

2 thoughts on “Amniotic Banding or Ankle Rolls? – A Long Awaited Appointment with the Geneticist

  1. Caitlin Michelle says:

    Hang in there, Mama! The first few weeks are the hardest, but I promise it gets easier! My boys turned 3 months old today, and they’ve been mostly sleeping through the night for a while now.

    I did exclusive pumping too, but I quit after three weeks. I just couldn’t keep up with the demand! Now I formula-feed the twins, and they’re both chunky and adorable.

    As for the genetics question, I know it may seem frustrating to not have answers. The only thing I know for sure is that it 100% wasn’t your fault and isn’t related to anything you may have done. My husband and I both have limb differences, and when I found out I was pregnant with twins we considered the possibility that our babies would also be born with shortened limbs. We decided that that would be fine with us because: who better to raise limb different kids than limb different parents? In any case, we found out our differences weren’t hereditary when I delivered two boys with the standard number of limbs and digits.

    I’m a new mom myself so I can’t really offer any good advice, but I will say that I hope that meeting and reading about so many others with differences eases your mind about your beautiful Cade’s bright future.

    Like

    • amandaraeellis says:

      Heeeyy thanks for this! ☺️ I would do anything to start getting more sleep so it’s encouraging to hear that it’s possible by 3 months! We’re just shy of 8 weeks now!

      I honestly cannot even imagine having twins…you seriously are super woman!! I’m glad you made the switch to formula… I’m sure that made it slightly more manageable?! It kills me that it takes double the time to feed when pumping. My goal is to pump until 3 months as I’m doing now and then start to drop pumps hoping my supply is established. And if it isn’t, then I’ll start supplementing. I feel like exclusive pumping every 3 hours isnt a sustainable lifestyle! And it actually just occurred to me… Here in Canada we are lucky enough to have a year long maternity leave! I know you guys get a fraction of that in the states! Again… You are super woman.

      And yes, I have a sneaking suspicion we won’t ever get answers and that’s fine, I know that the human genome is infinitely complex. I honestly can’t imagine my little dude any other way and have all the confidence in the world that he’ll be more than fine and that his differences will ultimately make him stronger and build character!

      ❤️

      Like

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