A birth diagnosis of Down Syndrome in Turkey

Our daughter was very secretive from the moment of conception.  My period had been late so I took a few pregnancy tests but none of them came out positive. I was very excited about the thought of being pregnant since we had just started trying. I went to the doctor and after my blood work came back negative my gynecologist offered me to take some hormones to help bring my period back but something told me not to take them.

 

A few weeks later when we were on vacation in South Africa on our way to go bungee jumping. My husband wanted to double check before I threw myself off a bridge, so we stopped at a local pharmacy and bought a test. Right after we stopped at a quaint restaurant and I went to the ladies room, unwrapped a pregnancy test wrapped in Elephant pattern paper, and I and took the test. It was positive. I ran out of the bathroom with my pants unbuttoned with the biggest smile on my face and tears running down my face. Before I reached our table to tell the news to my husband the waitress stopped me and with a big smile on her face said “Congratulations”. Bungee Jumping was postponed to a later date.

 

I was 29 when I got pregnant and my pregnancy was an ordinary pregnancy. I had continued doing almost everything I did before but with more caution. I danced the samba in my high-heeled dance shoes, went to salsa parties, went to the gym to do light workouts. We also did some traveling. We went to Europe, Canada, and Cuba between weeks 28-33. I was active and felt healthy and happy. The baby was also doing well, healthily situated head down from an early stage ready to make her appearance.

 

She came on her due date, after 12 painful hours of labor. Due to my wish, she was put on my chest the second after daddy cut the umbilical cord. It felt like the world stopped spinning for a moment and it was just us. I looked at my husbands tear filled eyes and smiled. “She is beautiful,” he said, “our baby girl”. I felt like I was put on the planet to give birth to this baby. The feeling of meeting your first born baby is indescribable. My mother had always told me that giving birth was beautiful but I don’t even know if there is a word in the dictionary that could do justice to that intense feeling that clenches your heart when you first lay eyes on your baby.

 

The pediatrician was waiting behind the curtain but since there was no immediate rush Elena stayed on my chest for the remaining of the labor. What seemed like a second to me was more like 30 mins and the doctor had left without examining her.

 

We saw love, breathed in love, felt love. I remember that moment so clearly when she was put on my chest. I looked at her and noticed her upturned eyes. I didn’t spend time thinking why they were different They were beautiful, not what I expected them to look like but so truly beautiful. My husband made a comment to my doula that our baby’s tongue is as long as daddy’s. At that time we didn’t know the long tongue was a feature of DS and since daddy had one too we didn’t think anything of it.

I gave birth at 2:30 am and by 10 am that morning I was told I can leave the hospital. Some friends from work managed to squeeze in a quick visit to meet Elena before we left. We had a room full of visitors just as the pediatrician was making her rounds. While I was chatting with a room full of people the doctor interrupted us and gave us an update about our baby in front of everybody. She made her announcement like she was giving a lecture to a group of people, that the baby looked healthy and that the only thing she saw was that she had slanted eyes which could be a marker of Down Syndrome, she then looked at me and added that I had similar eyes. Alarmed we talked to the doctor later the same day and she said we should just keep an eye on it but didn’t think it was anything to worry about nor did she advise to do any tests so we left it at that.

That news had left my thoughts as quickly as it had entered. I thought that if the doctors weren’t worried about it why would we. At the time I had no idea that it was even possible to find out after birth. As far as I knew it was something that was checked in utero and only effected older mothers and besides I  had had all the routine test done (the combined test at week 13 that checked for the markers of DS )and everything came out negative. I remember the doctor showing me a chart that was produced from the data and included my age and showed there was 1 in 1000 chance. I have never had luck with lotteries so I didn’t think that this sounded like much of a chance.

Both my mom and husband were convinced she had my eyes. We looked through baby photos but unfortunately, we couldn’t find many. I come from a family of academics who all thought it would be a good idea to test. Anyways, we didn’t really have time to process it all because the next thing we knew was Elena’s regular blood work came back and her bilirubin levels were so high she had to be put into an incubator and given light therapy. She had a bad case of Jaundice which became our immediate concern and prolonged our stay at the hospital.

When we finally came out of the hospital. We were happy, proud parents. We introduced our dog to the new house member. Gave her a bath, dressed her in a beautiful dress. Held her, kissed her, smelled her. My milk was coming in and I was successfully breastfeeding her. All was going great except Elena was a bit drowsy and wasn’t waking up for feeds. We tried waking her but we weren’t successful. We tried everything, stripping her off of clothes and putting cold face clothes, nothing had worked. I had plenty of milk but she wasn’t drinking it. I was worried that she wasn’t eating and my emotions were very heightened by not being able to breastfeed her.

We went for a check up a couple of days later and It turned out she had sepsis. She lost an abnormal amount of her body weight and was not very responsive. The doctor didn’t want to tell us anything except that we caught it at an early stage. Through teary eyes, I asked, “Is she going to be alright?” The silence was heart-shattering and left my brain to complete his answer. He just said that they’ll do their best.

 

It was Thanksgiving weekend and we were home without our daughter and without any information. Our dinner had never tasted so bitter. All that entered my mouth were salty tears. I remember how awful it was not knowing what was happening and what to prepare for. I felt like I was losing her and I wasn’t even able to be beside her. They sent us home and told me to pump milk. The only thing the doctors said was don’t cry so much or you will loose your milk. After the first couple of days, I was able to see her 30 mins each day.

Never in my life had I been so grateful for each minute. I held her and sang to her and told her of all the things she will do when she gets older.

 

The day we took her back from the NICU was a happy day. Ever since then I had become the obsessed mom, fixated on how much milk she had and if it had been enough. I know that her lack of appetite at the beginning had been caused by the bacteria in her blood, not by me but subconsciously I still blamed myself for everything that went wrong.

The time after the NICU passed quickly, we were busy tracking her weight and settling into a schedule. We thought about the testing here and there but we both brushed it off since all the doctors did. We went to a doctor in my home city and the doctor gave her a check up as well checking her thyroid and heart. She didn’t seem to have any of the markers except her eyes. The doctor did not seem concerned and said it’s up to us to test but in the end, it wouldn’t change anything and said that in his opinion he doesn’t think she has DS. His statement resonated in my mind, of course, it wouldn’t change anything either way.

Three months had passed and I was looking for a hospital where I could get a special vaccination for Elena. My husband was working so I took her there myself. The visit was with a new pediatrician. I stepped into his office and he with his poor English confidently said ‘ It is Down baby’, taken a back by his bluntness I was like ‘well, we were told that there is a small chance because my side of the family had slightly slanted eyes and that there were no other markers except maybe the tongue”. Looking back at pictures I can see that the small ears, button nose, and flat facial features were slowing starting to appear as well at this time. The doctor started giving Elena an examination and after listening to her heart he said:  “she is definitely DOWNS and she has a bad heart”. I didn’t know what to say. My body was there but my spirit had left my body and was flying around the room in circles of anxiety.  The world was beginning to cave in on me.  I was alone and scared and

The doctor started giving Elena an examination and after listening to her heart he said:  “she is definitely DOWNS and she has a bad heart”. I didn’t know what to say. My body was there but my spirit had left my body and was flying around the room in circles of anxiety.  The world was beginning to cave in on me.  I was alone and scared and beside me was this big tactless man calling my daughter an “it baby” with “downs” that had a “faulty heart”.

It was Christmas Eve, yet another holiday. My husband heard the news and rushed to the hospital. It was at this time we were sure we wanted to do the test. We needed to know. We booked an appointment for a heart scan for the following weeks and looked for a hospital that did genetic testing. After taking her blood we were on our way home, both glued to our phones researching Down Syndrome. That night we did not really have time to process anything since we were hosting Christmas Eve. I felt better about doing the tests but was still pretty certain it would come out negative. I found it hard to believe that she could have down syndrome just based off of what that one doctor said. Either way, we would know soon.

The next day must have been the worst day of my life. It was the day the realization hit me that my baby had Down Syndrome. I woke up and started crying like I have never cried in my life.  It felt like I was punched in the chest by a speeding comet and the air was pushed out and I was struggling to breathe. I have never felt such emotional pain in my life. I cried with my whole body and thought I would never stop. The pain and hurt were so paralyzing I sat in bed looking at the white wall struggling to take breaths. I called my family.

I couldn’t utter a word, with the last air in my lungs I let out one of the most pain filled cry of agony. I can’t imagine what my parents had thought. I remember they were distraught asking what was happening and if everything was ok. When I finally was able to blur out the sentence, SHE HAS DOWN SYNDROME, I was met with so much support and love. My sister who was on the other side of the globe also was very supportive and kept calling me to check up on me and raise my spirits.

 

 

They said they love me and they love Elena and nothing is going to change that, and while I heard the last words being uttered I shattered into millions of pieces because that had been my biggest fear. How will my family and the world accept Elena. Will she be loved equally? Will she be celebrated like any baby should be. I think this is one of the biggest fears that comes with the diagnosis. I never doubted their love but I felt a big need to be confirmed of it.

 

 

Looking at my little baby I remember feeling this immense feeling of love and the need to protect my little girl but failing miserably at providing a life for her that she deserves. This was a roller coaster of emotions, to say the least. I was alone in a foreign country, faced with a diagnosis I had no idea about. I had never met anybody with DS in my life and I didn’t know what to expect.

I was desperately looking for a place to turn to. I read online and contacted my doctor. All I was given was a list of never ending health issues, challenges, and developmental delays. Heart problems, speech problems, eye problems, ear problems, leukemia, Alzheimer’s, short life expectancy and the list goes on. All these illnesses and mental and physical delays flashed in front of my eyes. Questions like: How will she be accepted by others? Will she have friends? Will she fall in love? Will she be able to live on her own? Have a job? Play sports? Will she be happy?

When I looked at her sleeping peacefully that was all I could see. All the health problems a person with DS could ever have I saw written on her face. I saw her being boxed into a definition the society had made. I was screaming inside and had no place to turn to. With each limitation, I felt despair. I felt like all the limitations were things being taken away from my daughter.

 

Luckily I am the kind of person that doesn’t keep emotions unresolved” I cried my beating heart out for days way before we actually got the confirmation.

 

I felt guilt for crying. I didn’t know that what I was feeling was felt by other moms. I felt yet again failing my daughter. I couldn’t  even research because all the websites I came across were cold statistics with worse case scenarios. Somebody at the time told me that I could be feeling something like grief after losing a child. In some way it is very true, all those things you subconsciously have planned for your children were gone and you must accept saying goodbye to that baby you thought you would have.

After the blood work came back positive for T21 it didn’t come as a shock to me. I felt a terrible sadness and I was scared but I think ever since that cold doctor mentioned it  I had known it deep down and I didn’t really need that test to confirm anything. My husband, on the other hand, had taken it the hardest. He was so certain the doctors had made a mistake and the test was wrong that he looked for another hospital to redo the test.

It was hard to see him in denial. I was angry because we were living in that denial for 3 months already, seeking comfort in the doctor’s lack of concern in the testing matter. I remember the look on my Obstetrician’s face when I told him the test came back positive. So much concern and sadness was on his face. He was a doctor that prided himself in being an excellent ultrasonographer. He was shaking his head and saying “I am so sorry”. I had to cheer him up saying that it wouldn’t have changed anything knowing.

I know to some people we might seem ignorant for not knowing sooner. Every time I mention it to somebody I see that puzzlement in their faces “how didn’t you know?”. My sister recently told me that she also didn’t see it. She said she read stories online about how parents knew right away, that it was obvious to them but in our case, even the doctors were confused for the first few months until some features became more obvious and her heart murmur appeared.

It was hard being away from both our families and close friends in a foreign country where people don’t speak your language. People that I once called friends would slowly begin to act like strangers not knowing what to say or do. Although I felt very alone I do not blame anybody that distanced themselves from me. A person who’s in grieving is not the loveliest sight and I don’t know how I would have reacted to news like this if I was in their shoes.

 

I do remember ever single person that did reach out. Their actions and words felt like a protective blanket during a winter storm. A simple “she is a beauty”, “I love her so much and nothing will change that”’,”she has lovely parents that will do everything for her” was enough to raise my spirits to enormous heights. The best thing we could have ever done at that time was take a trip back home to Canada. We had friends, and family reach out and drive from all across the country to hold and kiss our baby girl. My broken wings had been mended and I finally felt air rush into my lungs, I took my first real breath since the diagnosis.

 

An old friend that I hadn’t kept in touch reached out to me and wrote me the most uplifting message at that time. Pain will be lifted, you will see the world through her eyes, different more beautiful perspective on life… Now reading this message after a year I can honestly say those words couldn’t be truer. How much wisdom was in those words coming from a girl who had spend time with these kinds of children.

The most challenging part for me was going back to work and confronting the outside world.  The topic was on many people’s lips, “Does her daughter have DS?”, “Did she do the test?”, “How is she?”. I was still hurting inside and was not strong enough to talk. When people asked about my daughter I had tears in my eyes, I wanted to tell them so much but I didn’t know how. I wanted to talk about the diagnosis, about my love for her, about how much it hurt not knowing what our future will look like. I wished my silence was enough words for people to understand.

 

“Sorry I didn’t talk to you when I heard that your child has a disability I didn’t have anything nice to say”

“I am sorry you didn’t know when you were pregnant so…”

“Nobody wants to talk to you because you always look sad”

“Such a shame it had to be your first baby”

“Don’t be sad she is still your daughter”

“Of course people feel pity for you, you have tears in your eyes when you mention your daughter”

These were some of the comments I came across during my time back at work.

I was so scared and vulnerable. I  didn’t want pity but unfortunately, that was what I was getting from everybody. Every time I would have a moment of weakness and my eyes filled with tears I would hear “I am so sorry”. I was so angry, not at the people but at myself for not being strong.

 

The cliche comment like “She is an angel” or “you must be an angel mommy if God chose you” didn’t cut it. Is my daughter an angel? I can say she IS an angel, and so are other babies. All babies are angels because they are pure. Am I an extra special mommy just because I have a special needs child? Not really. It’s all a matter of perspective. To a typical baby’s mommy, I might seem like I have more on my plate, but yet to another mommy whose baby is going through more complications I might have it easy. In my eyes it’s called motherhood and no matter what the situation is we make it work. All moms are like angels because we would do anything for our children.

 

What I did need at that time was support from others. A simple honest smile and “what a beautiful daughter you have” and “I just want to hold her” would have been enough. I was surprised how much joy I would get from strangers who would do just that. They wouldn’t see the label but they would see the baby girl and give her the love any baby deserves without seeing her as broken.

 

I contacted my obstetrician 3 months after the diagnosis just out of curiosity about how many babies had been born since Elena’s birth, I thought maybe this time I could be a support to those mommies that were in the same place as I was months ago and provide  an objective opinion before they decided to terminate their pregnancies. I learned that in those 6 months 4 pregnancies had been met with that diagnosis and all of them ended in an abortion. Although this made me very sad I still hoped to maybe reach out to the next parents and I told my doctor how happy we were and to pass my number on to anybody that needed it.

Another six months have passed and I haven’t heard anything. I contacted my doctor before writing this blog and unfortunately, he did not want to give me any more information. He was puzzled with my questions and avoided answering. I am aware that he comes from the school of medical doctors that believe in perfection and don’t accept abnormalities but somehow someway I thought that maybe I could change his mind and if not maybe he would let me show other parents the life they could have with their babies.

There are different ways to learn about the diagnosis. A prenatal, right after birth or even months after. Although all are different they give the same overwhelming feeling of despair and uncertainty of how the family”s life will look right after. In our case, although the seed was planted the day after Elena was born, we actually got confirmation about Elena”s diagnosis 3 months after. In my opinion, it was the best way to find out because I was able to fall in love with my baby without preconceived notions of who she is and will be. I never struggled with accepting her but the hardest part I found was being in a foreign country without family or a real support system. I had no community to join and other mommies to talk to. I soon discovered Instagram and ever since have met the most wonderful and encouraging community of people.

How is my life now? Not to write too much since this is a diagnosis story, my life is more beautiful than I ever thought it would be. Although she is still so little, my daughter has taught me so much about life already. We might be on a slower journey but it gives us more time to cherish each moment. Elena is the best thing that happened to me and my husband. She has strengthened our bond as a couple and showed us a higher meaning in life. She has also had a huge impact on our families who are her biggest advocates. I wake up each morning and hold my little miracle in my arms and have an abundance of things to celebrate. If you are a parent that just got the diagnosis please know that grief is a normal part of this journey but once you pass it opens doors to unimaginable peace and bliss.

 

 

 

 

 

 

 

Olga is a first-time mommy to Elena who is 1.5 years old now. She is a school teacher and very passionate about her job and children. Although she was never prepared to me a mommy to a special needs baby it seemed to her that she was destined to be Elena’s mommy. Olga and her husband Heath love to travel and will continue exploring their world with their daughter who has already visited 11 countries.Olga’s instagram: @_momuskalife_Elena’s instagram @elenazofia