‘OF COURSE the doctor knows more than me.’ An alarm went off in my head. We didn’t want to hand her over.’: Mom advocates for baby with Down syndrome, ‘She taught me to use my voice’

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“They say when you meet the right person, you just know. That’s what happened with my husband and I. We were both in our 30s and things moved very quickly. We each had the same vision of what we wanted out of life, and that included getting married and having a family. So that’s what we did! I was pregnant 7 months after we got married, and a couple of months later, everything changed. Those lives we had in our heads shifted, and we had to get used to the new path that we were on.

Our 12-week scan had us sent to a genetics counselor due to a nuchal translucency measurement of 7.4 mm (generally, anything over 2.5 mm is a potential flag for chromosomal differences). We went into our meeting with the genetic counselor with an amalgamation of Googled and doctor-relayed knowledge. For the record, neither was an accurate representation of our lives now.

Courtesy of Kylie Samson

After hearing our odds of having a child with Down syndrome, we decided to move forward with CVS, where they take a bit of baby’s DNA from the placenta for more definitive answers. While the results wouldn’t change anything for us, I needed to know. If there was something to prepare for, I needed to start preparing. I’m impatient by nature, and also was thinking about our baby. If we knew what we were dealing with, it would give us the best opportunity to have all the appropriate tests done to manage anything that might be related to a diagnosis and have all the right doctors already lined up for support at birth.

The genetic counselor gave us 1:2 odds our baby had Down syndrome. Those are the highest odds they can give based on the information they had. I knew there was likely something atypical about our baby, and I found myself hoping for specific outcomes over others. I just wanted our baby to live.

Just to make things more complicated, we had just bought a new house and were days away from moving. This made packing and caring about literally anything else near impossible. I was 2 weeks into a new job and couldn’t concentrate on anything. I begged our genetic counselor to let me know the minute she had the results.

Courtesy of Kylie Samson

It was the night before our big move, and Mike called me on my drive home: ‘We’ve been going through a lot of stress. Let’s go out for dinner and just be us for a meal before all of this.’ That was music to my ears. I met him at the restaurant. As soon as his glass of wine arrived, I looked down at my phone and saw the email – ‘CVS Results.’ I decided to read it to myself in order to decide what to do with the information at that moment. It said what I already knew in my heart.

‘I got the CVS result and it is abnormal. It shows the baby has Down syndrome.’

I looked up at Mike and debated not saying anything until after dinner. It had been so stressful on him already, but my face can’t hide much. He came over to my side of the table and we read it again together. The waiter could see something was wrong and just told us to go if we needed to. We sat in the car and talked and cried, then had to have the longest drive home, each in our own cars, and still trying to process everything. I wrote back to her, ‘Thank you, that’s a lot to take in, but it will all be okay. Do you know the gender?’

It felt like our world caved in on us, but it would still take a few months before we realized how wrong we were. We shared the news with our immediate families that night, and we received nothing but positive support from everyone. We are very lucky. It was a tough pill to swallow at the time, but we knew everything would be great, and we were going to have such an incredibly loved baby.

My eyes were tired and sore from crying when I received another email later that night: ‘It’s a girl.’

This is when my attitude did a 180. Knowing the sex of the baby paired with a firm diagnosis made it all very real. Not just this unexpected news, but the pregnancy. Of course, I was still scared of the unknown, but that took a backseat. Now I was her advocate. I was only 13 weeks along at this time, and it was already time to fight for my family. YES, I want to continue with my pregnancy. YES, I want to keep my child once she’s born. YES, I want all the resources I can get my hands on. YES, we want every medical screening done to make sure we are prepared for any conditions that are often associated with Down syndrome.

Enter the thing that would end up causing us more stress than a Down syndrome diagnosis — being told our baby would need surgery to repair an atrioventricular septal defect (AVSD).

Our anatomy scan and subsequent fetal echocardiograms showed us this and a plethora of other things to add to our list of worries. I had more ultrasounds than I could count and had a binder complete with labeled sections for each area of concern. In the end, the only thing that ended up remaining an issue was her heart. We were told between 4 and 6 months of age, our little baby was going to need open-heart surgery.

Courtesy of Kylie Samson

At 38 weeks, during one of my many ultrasounds leading up to our daughter’s birth, our medical team advised us it would be best if I were induced over in the next couple of days. The amniotic fluid level was low and the placenta was aging faster than it should.

I was scheduled for induction 2 days later, on my 33rd birthday. The beginning was slow and steady. Then somewhere along the way, she couldn’t wait any longer to meet us and decided it was time. The second half of my labor progressed so quickly our doctor missed it! Luckily we had a team of great nurses and a couple of residents to help welcome our girl.

On April 26, 2018, at 10:22 p.m., our Ava was born. She was delivered in the OR because they knew she would need to be taken away from us right away to get checked out. It was a whirlwind of delivery, and the nurse put Ava’s face in front of mine for a split second and told me to give her a kiss, and then took her away. It was hours before we were allowed to see her again but our doctor, who made it in seconds after she was gone, took our phone, snuck into the resuscitation room, and snagged our first photos of our girl.

Courtesy of Kylie Samson

We spent the first week of Ava’s life in the hospital with her, taking turns sleeping in a chair in her room in the NICU. There were countless tests done, some to follow up on prenatal ultrasounds and others because new things were popping up. We spent that week walking around like zombies. We never left the floor and were lucky to have family bringing us all sorts of food and treats when they came to visit. Our baby’s heels were full of cuts from blood draws. We were battling low blood sugar, jaundice, and feeding issues on top of awaiting test results and heart and oxygen monitoring.

Courtesy of Kylie Samson

We were very fortunate to have found an amazing pediatrician near us, so we were sent home to follow up with her for most issues. We learned Ava would be on medication for at least the first 3 years of her life for hypothyroidism. We had a year and a half of audiology and ENT follow-ups after Ava failed her in-hospital hearing test, routine check-ups with two cardiologists to monitor her heart health, and started our therapy journey.

Courtesy of Kylie Samson
Courtesy of Kylie Samson

Then something amazing happened. Some of her heart issues started to get better. The biggest hole was getting smaller, she was gaining weight at an acceptable pace, and she wasn’t showing any signs of heart failure! These were all great things, and meant something even better — we could postpone surgery. We wanted to wait for the perfect balance. We wanted her to be as big as possible, but for it to be soon enough she wasn’t too affected by her heart working overtime.

Courtesy of Kylie Samson

Ava was thriving for the first 6 months of her life. Her smile was, and is, contagious. She was the brightest light in every room. Then something happened. The smiles stopped, and her development slowed even further. We didn’t think too much of it but then we noticed some strange behavior as well. She would repeatedly drop her head when we were holding her upright and her arms would shoot out straight. I am a research fiend, so when I saw all of these things together, an alarm went off in my head. I had seen this before. I had read about it. I had seen videos. This was Infantile Spasms. Infantile Spasms is a seizure disorder in babies. It is quite rare, but slightly more common in babies with Down syndrome, and this is how I knew about it. You see, there is a massive DS community online and I was ALL. OVER. IT. This group was like an extension of family. Whether it was on Instagram or Facebook groups, these parents were there to share their stories and help you through anything they can. If something happened to their child, they share it with you so you can get ahead of what they didn’t know. I cannot thank this community enough for sharing these things, because it is the only reason we caught this as early as we did.

Courtesy of Kylie Samson

This was my first lesson in advocacy. Until then I had thought, ‘Of course, the doctors will know more than me. They’ll tell me what we need to do.’ This is not always the case. You know your child better than anyone, and sometimes a community of people who have all seen their child go through the same thing can recognize it quicker than a new doctor who hasn’t seen many cases of something. This happened to us, though, I have to say, overall we have an AMAZING medical team who I trust very much!

The day I put the pieces together and came to the conclusion of Infantile Spasms, we went straight to the ER of the children’s hospital demanding an EEG. It was scheduled within the next 48 hours and after it was complete, the resident came out and told me while the results weren’t completely normal, it definitely was not Infantile Spasms. I felt relief followed by confusion, I had been so sure but hey, I’m no doctor. In my gut, it still felt unresolved. Standing outside the waiting room, I asked him to look at the video I had of her having these episodes. He glanced at my phone dismissively and said, ‘That’s not what they look like.’
We left, struggling to accept the feeling of relief, and I planned to follow up with our pediatrician to get a second opinion. The next day, I received a call from a neurologist at the hospital asking us to come back in.

Courtesy of Kylie Samson

When we got there he told me he looked at the EEG results and thought it was likely Infantile Spasms. I showed him and the neurology nurse the video. They both whispered and pointed out some telltale signs in the video, and sure enough, that day we started a new prescription to combat Infantile Spasms.

We were very lucky Ava responded to this first course of treatment but man, it was a doozy to get her to take the medication twice a day. They were large doses and tasted disgusting. It often took both of us holding her down and distracting her while the other person administered the medicine. From the minute we completed one dose, I spent the next 12 hours dreading and mentally preparing for the next. This medication left our once happy and lively baby in a permanent fog. It was months before we saw her smile again. It weakened her tone even more than having Down syndrome already did, so all of her gross motor skills were far behind, even for the average kid with Down syndrome. I watched in my mom groups as kids, typical and with Down syndrome, surpassed my baby despite doing private physiotherapy twice a week. We knew she would get there, but it would just take some time and patience.

Courtesy of Kylie Samson

Just after her first birthday, Ava was cleared from neurology! It was so so great, but it seems like we are still waiting for the other shoe to drop. We’ve asked for multiple additional EEGs since being cleared and we mention every strange movement or face she makes to our doctor. It can sometimes be so hard to accept a medical issue is truly resolved.

Courtesy of Kylie Samson

As for her heart, months went by and at each appointment, I was prepared to hear now was the time, but we were able to hold off until Ava was 14 months old. It all happened within 2 weeks. We were told it was time, then we were in for pre-op, then it was suddenly surgery day! Though we had a LONG time to prepare ourselves for this day. It was the toughest one ever. She was bright and cheery that morning and was charming all the staff. It took everything in us to follow her lead and smile and laugh with her while we were already crying on the inside. We didn’t want to hand her over to be cut open. She had no idea what was coming, but we did. As much as we knew it was necessary, we would have done anything to avoid it. We were called to talk to the surgeon at about half the length of time they had estimated the surgery would take. Our stomachs were upside down and we were both crying. We assumed the worst. The doctor then got called in somewhere and we were standing there waiting for what felt like an eternity. We saw our anesthetist walking down the hall and we chased after him to ask why he wasn’t in the OR anymore. He calmly replied, ‘Oh, we’re done. She’s being transferred to the Cardiac Critical Care Unit.’ We breathed the biggest sigh of relief and hugged each other. She made it through surgery, and we’d get to see her soon.

We finally saw the surgeon and he gave us more detail about everything that happened, but the bottom line was she did just fine. We were on the road to recovery.

We were only kept at the hospital for 48 hours post-surgery and then were sent home for a few of the hardest weeks we’ve had as a family. While it was best for Ava to recover at home where she was comfortable and infection wasn’t lurking around every corner, we felt so ill-equipped to handle the situation. There were lots of texts and pictures sent to our pediatrician and the cardiology team, a few same-day visits, as well as a trip to the ER, but we made it out the other side. We made it out closer than ever and in absolute awe of the resilience of our little girl.

Courtesy of Kylie Samson

A week after her surgery, we found out that Ava was going to be a big sister and a few weeks later, we found out she would be a big sister to twins!

Courtesy of Kylie Samson

During my pregnancy, I got to sit back and watch Ava absolutely thrive. Before surgery, at 14 months, she was not able to sit up unassisted, and within days of being home, she was sitting up and a week later was crawling everywhere she could. We hadn’t quite realized the extent her heart was holding her back.

That brings us to now. Ava is a big sister to two 5-month-old brothers, and she is loving it. She was a little unsure at first and didn’t love sharing Mom and Dad, but she’s come around to the idea. She gives her brothers ‘kisses’ whenever she can, and she always makes sure she gets both if she gets one. When she crawls up the stairs, she goes straight to their room every time. I cannot wait to see how their relationship grows over time.

Courtesy of Kylie Samson

I know there will be a point in the next year or so when the boys will surpass Ava in some areas. While I know it will make me a little sad, I am confident she will always have things to teach them because she is always teaching us. She is 2 years old and has already taught me more than I ever imagined that a child could teach their parent.

Courtesy of Kylie Samson

She has taught me to be patient. She has taught me how and when to use my voice. She has taught me to speak up for those who aren’t able to speak up for themselves. She has taught me to celebrate the small things, as they’re the things we often work the hardest for. She has taught me about priorities. There are so many things I thought were important before having her, and after seeing everything she has been through, they now seem incredibly trivial. She has made me a better person and I am eternally grateful I get to be her mom.”

Courtesy of Kylie Samson

This story was submitted to Love What Matters by Kylie Samson from Toronto, Ontario, CA. You can follow their journey on Instagram. Do you have a similar experience? We’d like to hear your important journey. Submit your own story here. Be sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.

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