“My husband and I met 10 years ago, through a mutual friend at a club. It was one of those nights where I went out with my girlfriends and spotted the cutest guy. We dated for about 3 years before Sergio proposed. We got a condo, moved in together and planned our beautiful dream wedding. It felt like a fairy tale – everything I ever imagined. We took a beautiful trip to Aruba for our honeymoon and while there, the conversation of kids came up. My husband’s dream was always to have 3 children, but I always only wanted 1, and hoped it would be a girl. ‘I think we should start right away,’ my husband said. I agreed. However, little did we know our journey to be parents was just beginning.
A year went by of us ‘naturally trying.’ I was young – only 25 years old. I always thought since I’m young, we should have no problems at all. After the year had passed, I went to see my family doctor. ‘I think there’s something wrong,’ I told him. ‘I’m so young, we have been trying for 12 months straight and nothing. No sign of pregnancy, not even a scare.’ He looked at me and said, ‘You’re right, you are young, so wait a little longer before we look into this.’ I had always complained that during my menstrual periods it was always different than all my friends. My cramps were unbearable, I would be so sick to my stomach I wouldn’t even be able to work for the first 2 days, but I always thought my pain tolerance was very low. However, I was about to find out exactly what caused all that excruciating pain.
It was January 2015, I had my first appointment at the fertility clinic with my new gynaecologist. She scheduled me for many different types of ultrasounds and blood work. Within 2 days I had everything completed, and she noticed when she did my AMH bloodwork that my ovarian reserve was very low for my age. ‘We will need to schedule you for a laparoscopy surgery so I can see exactly what is going on,’ she said. My surgery was February 23, 2015. I went in that morning so nervous with my mom. It was only supposed to be 1 hour, but it became several hours. My mom was so worried. When I got to the recovery room, my doctor said, ‘You have stage 3 endometriosis. You also had 4 cysts – 2 on each ovary that were fairly large, so we had it removed.’
Once I recovered, the idea of IUI was brought up. I looked at my husband and immediately wanted to cry. My biggest fear was brought up, the fear of struggling to get pregnant. Usually you would do about 3 IUI rounds before going into the IVF conversation. I did 13 IUI rounds before even considering IVF. I would give myself breaks in between because it was a lot to handle month after month with all the negative pregnancy results.
Fast forward to 2 years, and we finally started talking about IVF. We were both ready. I turned to my doctor and said, ‘Yes let’s do it, we are so ready to be parents.’
Once the egg retrieval was completed, they said, ‘We were able to retrieve 7 eggs.’ I remember going home with a huge weight off my shoulders. I knew with those 7 we would be able to get more than 1 embryo. By day 5 of the transfer, they said, ‘you have 4 surviving embryos.’ I was over the moon excited. I booked my first embryo transfer on Mother’s Day. I was thrilled and already started talking to my belly as if the fetus was already there.
Then, the dreading day came. I got my period. I cried so much. I knew our struggles where nowhere near being over. I took a vacation to relax, be stress free. I took one year off and didn’t want to think about conceiving – I needed time to myself. All my friends were having baby showers and having babies and as happy as I was for them, I would cry for days.
In April 2017 my endometriosis had come back. The pain was there, so we scheduled another surgery to make sure we cleaned it out for me to try another embryo transfer. Once the surgery was done, I went the very next week. This time I didn’t get my hopes up. But on May 18, 2017, I will never forget this day, I found out I was expecting our beautiful princess.
My pregnancy was perfect until our anatomy ultrasound at 20 weeks. Once my OB got the results she requested it to be re-checked. With it being my first pregnancy, I didn’t know any better, so to me this was all normal. ‘I will have to send you to the high-risk team for your pregnancy to be monitored. We have noticed she has some abnormality with her hands and she’s measuring very small for the gestational week that she’s at,’ the doctor said. I didn’t think anything of it. ‘Okay no problem,’ I replied naively. When we went to see the high-risk team, they immediately noticed her right hand. They thought her fingers were fused together, and on the left she had 6 fingers and she was measuring very small. We went to see the genetics team, and all our results came back clean. They offered to do the amino and we said, ‘No, she will come as she comes. I don’t need to know or risk anything happening to her. She is our dream baby.’ The genetics team then gave us the option you never want to hear: ‘She will most likely come with concerns and a very rare syndrome. If you want, you have the option to terminate the pregnancy.’ We immediately said no way.
On January 3rd, 2018, I was 36 weeks pregnant and I had one of our weekly ultrasound appointments. That morning I woke up and made a joke to my husband. ‘I bet you she’s coming today.’ I went in for the ultrasound, saw my beautiful little girl on the screen, heard her heartbeat and everything seemed perfect. One of our high-risk doctors calls me in the office right after the ultrasound and says, ‘You must go register yourself. We need to induce you and get this baby out ASAP. You are currently IUGR.’ I was in shock; I didn’t hear anything else he said to me. All I heard was, ‘She needs to come now.’
I got into the NICU and was induced around 11:00 a.m. It was a long day/night, but our little girl decided to make her grand entrance on Sunday, January 7th, 2018 at 4:37 p.m. When she came out, our doctor thought we were Italian. I’ll never forget when he said, ‘It’s a bambino!’ I was like, ‘whattttt??’ He’s said, ‘It’s a girl!’ I was so confused. I’m Brazilian and my husband is Portuguese, but as long as I had my precious angel it didn’t matter what he said in that moment. All I saw for those 5 seconds before she was whisked away to the NICU, was all the HAIR she had!
She had to immediately be seen by the NICU nurses and the respiratory team. Joannah didn’t breathe for 5 minutes. I felt like I had just woken up from a dream. I was obviously so happy but so sad at the same time. I didn’t even get to see her face. Hours went by and a nurse finally came in and took me to meet Joannah for the first time. When I first looked at her, I knew something was different. She wasn’t like any newborn I had ever met. She was just different, but I couldn’t figure out what was wrong with her. I asked my husband, ‘What did you think when you went to see her?’ He replied, ‘She’s just so perfect and beautiful.’ We did notice she was born with only 3 fingers on the right hand and 6 on the left, but it wasn’t that. I couldn’t stop thinking about it.
Joannah was sent up to the NICU and I was sent to a room. Around midnight Sergio and I went up to spend time with her, we got to see her finish her bath, and Sergio got to change her first diaper. It was perfect, but I couldn’t shake what was in the back of my mind. I felt so guilty for having those feelings. I would look at her and I wouldn’t see myself or Sergio, or anyone in our family to be exact. She didn’t look like us, but our friends and family that we sent pictures to kept saying, ‘Oh she looks exactly like Sergio!’ I wanted to see that, but I just couldn’t.
On day 3 of Joannah being in the NICU, our genetics doctor came in and examined her. The first question she asked us was, ‘Do you think she looks like you guys?’ Of course my husband was so proud to say, ‘Yes, she has Dyane’s eyes and my nose and my dimple!,’ and he kept going on. That second, I knew something was coming. The doctor said, ‘Well, she does resemble you guys. However, she looks a lot like her syndrome. She is now clinically diagnosed with Cornelia De Lange Syndrome.’ I remember asking her to write it down. I gave her a napkin to write on. They said, ‘We will let you guys be and come back tomorrow to answer any questions you might have.’ The conversation was literally 10 minutes max. They also said, ‘You can google, but don’t over google.’
When that google search page came up, it was like I jumped off a cliff. I felt like my world came crashing down, all my dreams were over. We looked at each other and all we could do was cry. It was like we were grieving a child we thought we were going to have, to this new child we all of sudden got. We gave the news to our parents and they were so supportive. They didn’t care she was different. They were happy either way, as long as she was here. Sergio was okay too. I felt like I couldn’t even bond with her anymore because I felt like that’s not my child, there’s no way I went through all that and God gave me a special needs child. I was angry, sad, and jealous. I felt every emotion in that 24 hours until we got to talk to them again. They came back the next day and you believe we had questions.
‘Was it because she was IVF?’ They immediately said, ‘NO.’
‘Will she ever walk, talk?’ They said, ‘She will in her own time, they’re all so different.’
The questions kept going. Then they gave us information on Cornelia De Lange Syndrome and how it was 1 in 30,000 and how it was a DNA mutation. It was a fluke. It was what God wanted, God knew our hearts could handle this, and he also knew all the love our family, friends and people around us would give Joannah.
Today I look back and ask for forgiveness to Joannah and God every day, because in that moment I made it seem like I had lost my child, but I didn’t. God had just given me a different child. He also knew Sergio and I would be able to handle it. Sometimes I sit back and look at my friends and think, ‘no way that person could have the life we have.’ We have over 15 specialists. We have at least 4 appointments a week. We travel between hospitals, and rehabilitation centers. We are always worried for her because she’s medically fragile.
We don’t know when she will walk or talk, if ever, but what I do know is our love for her is stronger and stronger every day. She has taught me that all the stuff in this world – money, houses, materialistic things – those things don’t matter. We need to live in the moment. Life is too short, and we don’t know what tomorrow brings, that’s why we have today.
The love I have for her I can’t even begin to explain, but now the love I have for other families with children with special needs is so different. I feel what they feel, I see what they see. The world can be very cruel but it can also be very loving. I just want to thank all those moms and dads I was able to connect with that made me feel like, ‘This is okay. We’re going to be okay.’ This is just the beginning of a beautiful journey ahead. The endless love she will give us I wouldn’t trade it for anything in the world. She’s our miracle – our Gift from God.”
Read about another precious boy with Cornelia de Lange syndrome:
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