Our Ruby Jane was born on January 29, 2016. Weighing in at 6 lbs 14 oz, she had a head full of dark brown hair, ten fingers, and ten toes. Perfect.
That moment when I first held her was beautiful. I’ll admit, I didn’t have that “magically intense” moment (I was kind of in shock after a quick labour), but it was still beautiful. Feeling her warm little body rising and falling as she took her first breaths on my chest was surreal. How did we make this perfect little human? After everything we’d been through this year, this was the moment that washed all the trials of an “eventful pregnancy” away. This was the moment when everything started making sense again.
After 4 years married, my amazing husband and I finally decided it was the right time to start a family. We both had good jobs, our home renovations were done, and our siblings, cousins, and friends were starting to get into the kid game. It took a little longer than we expected, but within the year we were pregnant. 9 months would fly by with our busy jobs, baby showers, and nursery prep. I’d seen enough movies and read enough books to know what to expect when you’re expecting. But I never expected this.
Some Unexpected News
At our routine 20-week ultrasound, our ultrasound technician left the room to “get something”. She’d be right back. When she returned, a doctor was with her. We didn’t make anything of it. This must be routine… I thought that until the doctor turned on the lights and sat down, turned to us, and gently broke the news – our baby only has one kidney. We would need to monitor the development more closely with regular ultrasounds. When we walked back to the parking garage, I broke down in tears. This was the first moment I realized my plan of a perfect pregnancy meant absolutely nothing.
Ultrasounds became a monthly, sometimes bi-weekly, event. On top of this, both my husband and I were travelling a lot for work. He was leading a major project at work, and I was juggling projects with tight timelines. Life would go on. It went this way for a few months. The weight of not knowing whether our baby would be healthy on top of the demands of work meant both sides of work life balance were flowing over the scale. The weekend after Thanksgiving, my husband had an Anxiety Attack.*
*Did you know? – 1 out of 3 people will experience at least one Anxiety Attack in their lifetime. And yet, there’s still a stigma. What’s up with that?! An entirely different blog post for another day… We debated whether or not to include this, but realized by leaving this out, we’re contributing to the stigma.
This was a first for us. We knew people close to us who have lived with mental health issues, but it had never hit so close to home. ‘What to expect when you’re expecting’ never touched on this. WTF was happening?! This wasn’t in the book.
We both took some time off work. I went on mat leave early, leaving projects half finished and colleagues with looks of concern and confusion as I quietly cleaned out my desk. The next couple months were a whirlwind of navigating this new world of mental health, a new dynamic, on top of the pregnancy concerns.
We were eager to have our final ultrasound at 37 weeks. By then, the doctors had told us the kidney seemed totally healthy. As the nephrologist (kidney doctor) said, our daughter would be a totally normal healthy kid. FINALLY. Relief. A weight lifted. Our final ultrasound would be nothing more than our last chance to see our kiddo on the inside.
Side swept again. When the tech left the room again, my heart sank. What this time? We were asked to go to Labour and Delivery right then. Blood flow in the umbilical cord was low. We could be induced that day.
After a few tests, we were told we could leave after being introduced to a high-risk doctor and would need a transfer of care from the midwives to OBs. Over the next two weeks I went for ultrasounds every couple days. One day the blood flow would be normal, and the amniotic fluid was low-normal. The next time it was the opposite. We teeter tottered like this for a week and a half until we set the date. It would be better to get her on the outside to figure out what was going on. I would be induced at 39 weeks.
39 weeks is considered full term, so we didn’t have the premie concerns. We knew she was fully developed, and this induction was a matter of caution. I was fortunate to be allowed to have my amazing midwives at the delivery too, as well as a fantastic doctor who had the bedside manner of one of your oldest girlfriends.
I was to be given Cervidol the night before, and would go in the morning to either get more, or be given Pitocin to move things along. I was told to be ready for what could be a long, challenging labour, this being my first as well as an induction. My birth plan for a totally natural birth was thrown out the window. (A birth plan is good to have, as long as you’re willing to tear it up.) Turns out the Cervidol was enough to get everything started overnight, and after a 3.5hr active labour, I was holding our precious little Ruby in my arms.
We stayed 24-hours so Ruby could have a little more supervision given our concerns. We were so relieved when all of her tests can back normal — eyes, hearing, muscle tone — and, given her kidney issue, we were overly excited when she had her first tinkle. We were ready to go home and get on with things. It would be an adjustment having a newborn at home, but we knew it would soon become ‘normal’. Our perfect little family of 2 would become a perfect little family of 3, and we’d soon be celebrating all the milestones new parents enjoy along the way.
Ruby was doing great. She barely lost any weight and was up to 10lbs by her 4-week check-up. She had two ultrasounds on her kidney after birth, where we learned that Ruby actually had two kidneys at one point, until the right dropped and fused with the left. As the doctor put it, “it’s one super kidney for one super kid”. At almost 6-week to the day we saw her first ‘social smile’. She was also starting to coo and babble. Another milestone checked. Next up – eye contact and visual tracking – usually a 6-8 week accomplishment.
Ruby had always had very active eyes. When I put her on her back, they would jump back and forth, presumably as she tried to focus on the new world she was seeing around her. I thought it must be normal, especially since she was given the clear on her eyesight at the hospital.
Meanwhile, I was also starting to notice something unusual about the left eye — it seemed a little ‘foggy’, and it also seemed to be a bit bigger than the right. Maybe this was just a newborn thing, and they were developing at a bit of a different rate? (I guess I wanted to believe anything…) I also still couldn’t get a sense of what her eye colour would be. Some people said blue, but I thought brown since both her dad and I have dark brown eyes. The funny part was that while I knew newborn eyes took a while to develop, I had never been able to make out pupils. In some light I could catch a golden reflective ring around the edges of her eye, which made me think her eyes were permanently dilated.
At week 7, we had our final appointment with the midwives. I pointed these observations out, and she agreed, this was unusual. Knowing it was our last appointment at that the paediatrician was taking over from here, she wrote up what she was seeing and asked me to let her know what he said after the 2-month baby well.
That Unsettling Feeling
I brought the letter from our midwives, pictures, and videos, and described what I was seeing in her eyes. Given that we were just at 9-weeks, he said everything looked normal. In his exact words — “I’m not saying you’re lying. I just don’t see it.” He told us to come back at the 3-month baby-well and if she’s still not tracking, he’d refer her to a specialist.
A week later, I was still unsettled. My husband asked what would make me feel better. We brought her to an optometrist. I told him I’d never been able to see her pupils, and he told me it was because the pigmentation was so close between the iris and the pupil. He said the same thing — everything looks normal, bring her back at 6 months. I felt better for about 5 minutes after we left the appointment. After that, my mamma instincts came back. I knew they were wrong. I turned to Google. Google is a double edged sword — good in that you have instant access to thousands of references and forums that can give you answers; bad in that you have instant access to thousands of references and forums that can give you answers. I read about others with similar concerns, and a few of their stories clicked. Cataracts? Nystagmus? Glaucoma? Corneal scarring? There were nights I cried as I rocked her to sleep, feeling totally helpless and unheard.
Soon after, I started noticing that the flash in pictures no longer reflected in the left eye. I was able to move our appointment up by a week. My parents were in town, so I asked them to come with me for support. Once again, the paediatrician said “I’m not saying I don’t believe you… but I don’t see it.” After showing him more pictures, and after he looked again, he saw the reflective ring. He agreed that it was a problem she wasn’t tracking, and that her eyes don’t look like the average baby’s her age. He referred her to two different ophthalmologists. More lines in the water, he said. That was on a Thursday, a week before her 3-month birthday.
The next Monday, this mamma bear called the two hospitals he referred her to. Neither of them had the referrals. You can imagine how angry I was. Where was the urgency? I called his office and found the name of the ophthalmologist he referred her to. At least there was something done. I called their office and left a voicemail: there was more to it than not tracking and following. I described the cloudiness in the left eye. Within the hour, I got a call back with an appointment that Wednesday.
Ruby and I sat in the waiting room at the ophthalmologists. It was bigger and busier than I expected. Thankfully, the wait wasn’t too long. Ruby sat on my lap in the exam chair as the doctor wheeled his chair over to take a look. Him: “Okay Mrs. Gencarelli… has she been given drops to dilate her pupils?” Me: “No. She hasn’t. I’ve never been able to see her pupils… it’s like they’re always dilated.” Him: “I see that…” After looking into each of her eyes, he rolled his chair back a few feet, took off his glasses, and said, “I’m seeing a few things that are unusual. I want you to go to my colleagues at Sick Kids Hospital where they’ll give you answers about Ruby. There’s no sense in me giving you general stats about these conditions, when what you need are answers about Ruby.” He was right. I didn’t need more stats. He left the room to make the referral. I knew he was leaving the room because he didn’t want me to overhear his conversation and freak out.
When he came back he told me — “Mrs. Gencarelli, this is the beginning of a journey for you and Ruby. You’re going to have to be strong, and you’ll have the best doctors to help you.”
“Her eyes didn’t develop properly in the womb. There is nothing you did wrong. You didn’t eat anything, do anything, or cause this in any way.” Thank God. He was reading my mind.
I called my husband right away. He left work and met us at Sick Kids. He’d had a job interview that day (great timing, I know…) There, we were introduced to their fabulous team of nurses and specialists. Ruby was examined, and a sedation was arranged for the next day. My mom drove down so she could come with us.
Thursday: Sick Kids Hospital
That morning, Ruby couldn’t breastfeed after 9am. The appointment was at 1pm, and she needed an empty stomach to be safely sedated. Anyone who knows Ruby knows she loves to eat. She’s a chubby little cherub, and I knew she wouldn’t be very happy with me. My mother spent most of the morning with her so Ruby wouldn’t be reminded how hungry she was, and so I wouldn’t be reminded how horrible I felt not being able to feed her.
She did very well. She only really cried on the drive there, and slept most of the morning. She must have known something was up, and was doing her part to help.
After a bit of a wait, we were taken to the sedation room. Ruby was weighed and had her blood pressure and heart rate taken. After she was deemed healthy for sedation, she was given a little drink with the sedative in it. The nurse told us it tastes like Buckley’s, so despite being thirsty, Ruby was none too pleased. It took about ten minutes of rocking and cuddling for her to fall into a deep sleep.
The nurse hooked Ruby up to the monitors. It was so hard seeing this little tiny body lying on the exam table. My little baby looked so vulnerable, with the wires hooked up to her chest and arms. The nurse was great about it, and even swaddled her up to keep her cozy (and keep her arms at her side should she wake up).
During the exam, we were privileged to have two of the world’s top doctors in Ruby’s conditions in the room. My mom and I were sitting there thinking — there is literally no better place for our Ruby to be right now. Even though it was hard to see her looking so vulnerable and small, I felt relief knowing we were finally giving her the help she needs. It was amazing hearing them talk back and forth about their observations. I finally had a sense of security.
I will never forget the moment our doctor turned to me and said, “The name of this condition is Aniridia. Here’s a pen so you can write it down. A-N-I-R-I-D-I-A.” Aniridia is an extremely rare condition that affects 1 in every 50,000 – 100,000 people. It literally translates to “without iris”. The iris is the coloured part of the eye that controls light. It’s a muscle that allows the pupils to dilate when it’s dark, allowing more light in, and constrict when it’s bright, keeping the light out, kind of like the aperture on a camera. That explains why I never saw any pupils. Ruby’s eyes are all pupil — solid black.
She wrote a list of some of the other associated conditions she was seeing: cataracts, foveal hypoplasia, pendular nystagmus, glaucoma. The left eye, as expected, was much worse than the right. Comparing the images she took, you could easily see that barely any light was getting into the left eye. The cornea (the surface of the eye) was full of fluid, which caused it to be cloudy. There was even some cloudiness in the right eye, but not quite as much. We were prescribed two types of eye drops, and one oral medication. These would help reduce the pressure in the eye and clear the cloudiness. We were scheduled to come back 3 weeks later to see how effective they were, and whether or not Ruby will need a surgery to drain the fluid instead.
Can Ruby see?
Yes, Ruby has vision. It just isn’t the greatest. She may be legally blind, but she may not be. Time will tell as we see how she responds to medications, and any other procedures she needs.
It feels amazing when she smiles at us, laughs and coos. I know she’s seeing something, and as far as I can tell, she’s pretty happy with how she sees it. This is how she sees the world.
I know I’ve felt a sense of loss about what Ruby can’t see. My mind flashes through all the joyful memories from my childhood that she’ll experience in a different way. When you have a baby, you expect and want him or her to enjoy the same pleasures you enjoyed in the same way you enjoyed them. But I can’t look at it that way. If I were to lose MY vision, that would be MY loss. I would know what I had and grieve for losing it. That’s not the case with Ruby. This is how she has always seen the world. Her memories will be her own. Her way of seeing and feeling and experiencing will be her own. She doesn’t know the loss because this is her reality. This doesn’t have to make her childhood any less joyful. When I hear her laugh, it’s impossible to doubt that.
I’m certainly not perfect, and I acknowledge that as we go through this my perspective on things may shift here or there. I’ll make mistakes. I’ll have days when I cry and feel really, really sad. We can’t possibly know everything today we’ll come to know tomorrow.
As much as this blog is to keep our friends and family informed, it also serves to help us reinforce the positivity we’re consciously choosing to believe. We are really just preaching to ourselves. We can choose to be positive, or we can choose to feel sorry for ourselves. The ladder will do neither ourselves or our daughter any good. So if at times it feels preachy, just imagine me standing in front of a mirror and giving myself a pep talk that you’re witness to. 😉
So What’s Next?
We’ll learn a little more each day. We’ll learn more about her eyes, her spirit, and ourselves; we’ll learn about our little family and the bigger family behind us. We’ll learn more than we would without this experience in our lives.
It’s not what was expected. If we always knew what to expect, we’ll never learn anything new. Difference is compelling. Challenges teach. We can choose to feel sorry for ourselves and our daughter, or we can celebrate what makes her unique and support her along the way, as tough as that may be at times.
We’ll be stronger for this, and so will she.
Thank you for your amazing support, friendship, and love. Ruby is a very fortunate little girl.