International Diagnosis Archives - Page 2 of 2

Oriana, the light of Our Lives- A Down Syndrome Diagnosis Story

February 9, 2018 by Guest Post Leave a Comment

************************************

Oriana was 10 hours old when we were given her suspected diagnosis.

I am a first time mum – this was my first pregnancy and all seemed totally normal throughout. I had extra scans due to my BMI being below average, but they all showed a very active and perfectly healthy baby kicking away inside. My husband and I are both under 30 and so aren’t a high-risk category for any complications during the pregnancy, but agreed to the test carried out at 20 weeks gestation to check for the possibility of Down Syndrome. The results came back confirming that we were indeed at very low risk of the baby having Down Syndrome (about 1 in 3000+) and so we were not offered any further tests and never thought about it again.

After a couple of spells of reduced movement from the baby at 38 weeks, it was decided that I should be induced. My bump was small and they were concerned that the baby was no longer comfortable. My labour was very short and intense and mostly without pain relief, leaving me in a lot of shock. The baby’s heart rate kept dropping as the contractions were so frequent and intense, but once she was born the midwives announced we had a baby girl, and reported that they were pleased with her health and that she had scored 9/10 on the apgar score. I didn’t get that rush of love and emotion that a lot of mothers describe; I couldn’t even open my eyes to look at her for the first 15 minutes as I tried to battle with my exhaustion and shock. I was shaking from head to toe and in a cold sweat and so my husband held her first, it was another half an hour or so before I had the strength to put her against my skin.

In the following hours however, she was taken away to be treated for suspected sepsis. She could not regulate her temperature, was very jaundiced, couldn’t suck or take any milk, and was struggling to wake. I had to hand express colostrum into syringes to feed her and it wasn’t enough to give her strength. After being in the neonatal unit for a couple of hours with our daughter, the consultant and nurses came into our hospital room to speak to us about the course of action they were taking to treat the sepsis. After discussing the treatment, the consultant then went on to say “…and I don’t know if you have noticed but your baby looks a little different from other babies, the facial features she has combined with a few other factors make us suspect she has Down Syndrome…”. The doctor was very gentle with his news, but then carried on talking about how she may cope in the future and where we would go from here, but I hadn’t managed to keep up with the information following that initial sentence.

You could tell it was hard for him to break the news to us, and the nurses were so kind and gentle. I remember feeling that my face had gone really hot and that the room was swimming, it was almost like the doctor’s voice had been amplified to an uncomfortably loud volume too and I was struggling to take anything in. My initial reaction was one of complete shock – they must be wrong, how could it have never been picked up before? Especially with my extra scans? We had everything checked! The shock then turned to fear as I realised this was something that I would now have to work with for life; forever my future would be changed to include Down Syndrome whether I felt strong enough to handle this or not. My mind raced ahead to the coming years- I was terrified I wouldn’t be strong enough to be her mother, worried that she wouldn’t get on well at school or make friends, concerned for our relationship as mother and daughter, and wanted answers on how other people would treat her and if she or I would ever be happy again. No one could properly answer any of these questions, and that only increased my fear of the unknown and our future. I would say I maybe felt like this for the first month after her birth before I truly knew that everything would be OK.

Later that evening, we were told about the link between heart defects and Down Syndrome. We had an ultrasound booked due to a heart murmur they had picked up, and the ultrasound revealed three heart defects – a hole at the top of her heart, a substantial hole of 6mm between the bottom chambers of her heart, and an additional passage between the two main arteries of her heart. When she was less than a week old blood tests also revealed her to have a congenital under-active thyroid. Despite this though, our daughter never had any respiratory issues at birth and her thyroid condition is able to be managed very effectively with daily medication.

When we were given the news of Oriana’s diagnosis the consultant advised us to try and refrain from Googling information. He said this was because a diagnosis of Down Syndrome now is totally different to a diagnosis ten or twenty years ago – he was worried we would read outdated information. As a child I had grown up closely with another family whose eldest son had Down Syndrome. I remember learning to sign nursery rhymes, playing with him, and going on holidays with the family – but he is now in his twenties. I still see him around the village where he catches the bus independently. I have had conversations with him about the college course he was enrolled on and his interests in catering. I remember always thinking that his parents did an amazing job of raising him in much the same way I saw them parent his younger siblings; he was always encouraged, included, and supported. Despite the twenty year age gap, I know my parents have discussed Oriana’s diagnosis with them and heard about his experience with having holes in the heart too. In fact, I think my mother spoke to his parents on the evening Oriana was provisionally diagnosed – it just seemed like the natural thing to do; to reach out to someone else who was already in ‘the lucky few’ club.

The hours, days and weeks following Oriana’s diagnosis were very hard. We had back to back observations, appointments, and phone calls with what felt like a constant stream of bad news. I was still in a lot of physical pain, but I remember thinking that it felt right – it matched how I felt on the inside and everything about me was hurting. For almost 9 months I had imagined my life with another baby and with another type of future… and it was a grieving process to come to terms with the fact that everything I had pictured was wrong. My baby was very different to the one I had imagined, and my future was going to be very different. I remember looking back on photos of my baby shower or my pregnancy and feeling like I was still due the baby. It took me a number of weeks to understand that specific pregnancy was related to the baby I had in my arms. I also felt a lot of guilt as a woman and as a mother. I felt my body had let my little girl down, that I had somehow formed her ‘incorrectly’ & failed at something that should have come so naturally. I worried other people would look at me as a failure too, & that my body had let my husband down as well as my little girl. I know now this isn’t the case, and that she is the most perfect gift given to me by God, & that she was designed this way from conception.

I also felt jealous when I saw other new mums, or mums-to-be. They were going to get the experience I never had; they would have those blissful first few days with their baby and just be able to enjoy them and concentrate on falling more in love with their little one. They wouldn’t have a constant stream of nurses and consultants in their room, trips to the neonatal dept. twice a day, scary diagnosis and tests one after the other, and having hard conversations as we tried to explain to everyone how much our world had changed in the last few days. She was my first baby and I felt robbed of our first few days together and the experience I thought we would have as I welcomed her to the world. I was so jealous of the other mums who got what I thought I should have in terms of an experience without so much hurt, grief, and fear.

My husband initially had to face a lot of the emotions that I did – shock, fear and grief. However it seemed he processed these feelings more quickly than I did and was a lot less scared about the future. I think this is due to him being someone who lives in the present much more than I do (I am working on this!) and so was able to enjoy what a perfect baby she was on a day-to-day basis without worrying ahead about what type of school she would attend and whether other children would invite her to their parties! From the moment she was born you could tell he absolutely doted on our little girl, and still now is obsessed by her and how perfect he finds her. This never changed when we were given the diagnosis. He found it easy to shower her with love. He wouldn’t stop taking photos of her and didn’t want to put her down!

It is still very early days to say how this experience has affected our relationship, but we both had a conversation about how we felt as soon as the consultants left the room on that first evening. We agreed that it didn’t change how much we loved her, & that together we would provide the best life for her that we possibly could. We felt fiercely protective of her. This whole journey has made it so important to keep talking about how we feel, so that neither one of us feels isolated by any emotion such as grief or fear, and so that we can support each other through it all.

When it came to announcing Oriana’s birth to our friends and family I worried how people would react to an ‘additional needs’ baby being brought into the circle, and whether they would find it awkward or uncomfortable. I needn’t have worried though, their responses were all so positive and encouraging. I remember taking screen shots of the text message replies we got, and reading the encouragement back to myself at night when I was alone in the hospital room. Since leaving the hospital she has been overwhelmed with love, visitors and cuddles. I would go as far as to suggest that she has preferential treatment!! I no longer feel anxious about how people will respond to Oriana, and have been able to take strength from all the love and support offered to us.

It has been a process in terms of looking at Oriana and not seeing Down Syndrome. I remember being in hospital when she was about a day old. We took our baby to have her first wash and a nurse held her, showing us the best way to do it. Seeing Oriana objectively in someone else’s arms with her hair wet and slicked to her head, I suddenly saw the typical features of Down Syndrome that the consultant had seen, and I remember crying in the bathroom as I could only see her diagnosis. The more time that passes though, the more I know of ‘her’ instead of the labels given to her. The more of ‘her’ I got to know aside from the list of symptoms and ‘typical features’, the more I was able to enjoy her and move on from the fears I had. I was able to embrace the diagnosis as part of the thing that made my daughter so easy for me to love, and so amazing. Most days now I totally forget her diagnosis as her personality, perfect features, and expressions, override a list of symptoms that initially described my daughter.

People have asked me if I thought it would be better to get the DS diagnosis during the pregnancy or after birth. I have mixed views. Whilst my husband and I wouldn’t have made any different decisions if we had found out about her diagnosis before birth, I think it would have given me more time to adjust. I had a very fast and shocking birth, and so to have further shock piled on top of this 10 hours later lead to a very traumatic time. I think I am still coming to terms with this experience even now. It meant I had to process grief, fear and shock whilst in significant physical pain and with hormones all over the place. Being able to find out during the pregnancy would have allowed me to imagine a more accurate version of our future, prepare myself emotionally whilst I was feeling less vulnerable, and start researching and speaking to other mums of babies with DS. However I think there is a lot to be said for receiving the diagnosis when your beautiful baby is already in your arms – I was comforted and reassured that my baby was still amazing in every way, and that I would love her just as much as any other baby I may have given birth to. I imagine it must be very hard to get the diagnosis when your baby is still so much of an unknown quantity.

In conclusion, my life has changed massively – just as a new mother, let alone a mother to a baby with Down Syndrome! However, I spend a lot more time than a typical new mother in hospitals, working on feeding, her neck strength and exercises, and making sure she has all the support I can find to give her the best start in life. Our schedule is hectic, but my life is probably filled with more love and support than I ever knew I had before. Little Oriana is now 3 months old and has melted our hearts with her first smiles, loves squawking and gurgling, licking anything with a fluffy texture, and has just mastered breastfeeding. She makes short, sharp and fast movements during playtime like a light-footed boxer, but is peaceful and calm for the rest of the day. She sleeps well, does exceptionally with her health issues, and is an absolute blessing to have. We truly feel privileged to have been chosen as her parents.

Abbi is in her late twenties and has been married for just over a year to Stefan. The family resides in Leicestershire, England. She is the oldest of four siblings, Fine Art graduate, family person, and a perfectionist. Tending to be slightly anxious in new situations or when faced with change, she prefers to spend free time at home with friends & family instead of being out exploring & thrill seeking! Follow Abbi along on Instagram @Abbi.favellstapleton

A Ray of Light- Down Syndrome Diagnosis Abroad

January 15, 2018 by Guest Post 3 Comments

I didn’t know anything about Down syndrome before Ray was born. I had never met anyone with Down syndrome, and it wasn’t something I even considered a possibility for my life. Ray is my first child and I was 30 years old and healthy when he was born. In fact, I almost canceled my appointment for the Down syndrome screening because I was entirely convinced that it was a waste of time. I knew so little about it that I believed Down syndrome exclusively affected older women or those with a family history. I was living in Bogota, Colombia at the time, though, and the initial “soft screening” was a requirement at my doctor’s office. Abortion isn’t legal in Colombia unless it’s to terminate a “genetically flawed” pregnancy, they explained to me.

The day of the screening, my husband and I hailed a taxi from outside the international school where we both worked. As we barrelled through the city toward the hospital, I turned to my husband and said “what if he did have Down syndrome?” He shrugged, seemingly unbothered by the idea. “What if he did?” he responded, “would it matter?” I was stunned. It had never occurred to me to have this conversation before. I knew we shared a political perspective on this issue, but bringing that conversation inside our personal circumstances was a totally different thing. I was all at once more in love with him at the realization that he could unflinchingly love an imperfect child and also terrified that I could not. “You must be a better person than I am”, I joked, shoving the idea out of mind and changing the subject.

Just as I suspected, the screening confirmed that the child I was carrying did not have Down syndrome, and given the results of the soft-marker screening, the doctor adjusted my probability rate for delivering a child with Down syndrome to about 1 in a million. “I guess that’s relieving”, my husband said. “Were you really worried about it?” I laughed, “I could’ve told you he doesn’t have Down syndrome!”

My pregnancy carried on as textbook-normal, and as my monthly checkups turned weekly, the baby continued to grow, always revealing average measurements and a healthy heartbeat. Ray was due on my husband’s birthday, April 11th, and we planned to stay in Bogota until July when we’d fly with the baby to Maine to spend the summer with my family. After that, our plans were wide open. We had saved enough money to conceivably take a year off from work, especially if we stayed with my parents or rented a humble space in my little hometown. We had thought it would be fun to spend Ray’s first year hiking and playing in the snow while we searched for new teaching jobs abroad, ultimately with the plan of raising Ray overseas, bouncing from country to country until we got sick of the nomadic lifestyle.

On Easter Sunday, 2015, I felt my first contraction. By lunchtime on Monday, 5 days before expected, Ray appeared. My mother had flown down to Colombia to be with me for the birth, and in true Colombian style, the hospital room was filled with a cast of thousands. As soon as he was delivered, the doctor placed him on my chest momentarily before the nurses took him to be cleaned up. I noticed three things when I saw him for the first time: he seemed kind of skinny; he seemed kind of blue; his eyes were kind of a funny shape. As I laid there remembering a “What To Expect” article I had recently read that aimed to comfort women who didn’t initially find their babies beautiful, but instead weird looking, I saw that the nurses gathered around Ray were whispering. It seemed strange, but I had become accustomed to dismissing such things as “cultural differences” and not reading too much into them. Eager to hold him again, I craned my neck around the nurses who were still waiting for me to deliver the placenta and realized that Ray was being placed in an enclosed, mobile bed, which was promptly wheeled out of the hospital room before I could say anything. The entire medical staff rushed out of the room after him, followed by my husband who demanded to know what was happening. In a matter of seconds, I went from being surrounded by an uncomfortable amount of people and my brand new baby to being alone with one nurse and my mother, both of whom had no more idea than I did about what was happening.

“Tranquila, tranquila”, the nurse kept saying, trying to calm me. My mother was at my bedside now, holding me while I fell into tears, assuring me that everything was going to be fine. Minutes later the attending pediatrician, who I had only met briefly before, returned to the room. She removed her surgical mask, looked me coolly in the eyes and said “I believe your baby has Down syndrome. We need to do some testing. His life expectancy may not be very long.” It was clear there was no room for questions or further discussion. She replaced the surgical mask on her face, turned, and left the room. My panicked crying turned to heaving sobs. The nurse, who was now delivering my placenta, continued “shh… tranquila, tranquila… shhh” and finally left the room.

If it weren’t for my mother, I would’ve been alone in the hospital room. I will forever be grateful that she was there that day.

“Maybe it was a language issue”, she tried to reassure me, “I don’t know if her English is that good.” It wasn’t a language issue; the doctor spoke perfect English. “This is my fault”, I confessed, “I know this is my fault.”

“How could this possibly be your fault? This is not your fault — It’s nobody’s fault.”

“I went to that wine tasting at Christmas and I drank an entire glass of wine.”

“Wine does not cause Down syndrome, Taylor,” she insisted, stroking my hair and trying to calm me down.

“How do you know? Maybe it’s not Down syndrome. I did the test! They said he didn’t have Down syndrome. It can’t be Down syndrome. It must be something else. Or maybe he developed Down syndrome after the test because I had that glass of wine.”

I’m not sure that my mom could even make out what I was saying — I was frantic. I’m not religious and wasn’t raised to believe in the divine, but the next thing I knew, I was pleading skyward through rattled gasps — begging for Ray to not have Down syndrome. I was even negotiating that I’d take a different disability if his brain could just be “good”: “I’ll take deaf! I can deal with deaf… even a wheelchair, let him be in a wheelchair, just please let his brain work!”

My mom had stopped responding at this point; she just held me and let me say all of the terrible things that I’ll always wish I hadn’t.

The better part of an hour had passed before my husband came back. My crying simmered and I laid staring quietly at the ceiling. I remember thinking that I could just leave. I had barely seen the baby, hadn’t even really held him yet. I wasn’t attached. Would it really be hard for me to just leave the hospital and never look back? Maybe he’ll die, I thought. Maybe that would be for the best. I think that many of us in this tribe will carry the regret of these dark, initial thoughts inside of us for the rest of our lives. As we fall in love with our children and realize that they are, in fact, the complete and perfect humans that we always wanted, we feel deeply ashamed for ever having doubted their wholeness or their worth; for ever questioning our ability to fully love them. It’s a difficult, but important thing to talk about.

When my husband finally returned, my crying returned to a boil. I searched his face, desperate for some indication that it had all been a mix-up, that the baby was fine and normal. “What’s going on?” I sobbed.

“Our son is here!” he said, beaming, kissing my forehead as if nothing had happened.

“But…but what about…”

“It doesn’t matter”, he said, still smiling, “he’s fine… he’s our son and he’s fine. They just want to do some tests on his oxygen levels and then we can see him. He’s so beautiful, I can’t wait for you to see him all cleaned up.”

I was bleary-eyed and confused when he knelt down by the bed to hug me tightly. How could he act like nothing was wrong? Why wasn’t he crying? How could he be happy?

In the days that followed, I found it difficult to talk to anyone. I shuddered at emails congratulating me, and felt like I needed to “tell them truth”, as if I was being congratulated for receiving an award that I cheated to win. It was undeserved. Ray was being kept in the NICU because his oxygen saturation levels were low, and the first time I saw him was about 6 hours after giving birth. We weren’t allowed to hold him; he was hooked up to a million cables and lying inside a plastic box. Looking back on it, I should’ve fought like hell against all of this jacked-up protocol. I couldn’t, though. I was exhausted and still in shock. I wasn’t thinking. My husband started talking to Ray, crying joyfully as he wiggled a bit in response. I just stared at him, surprised, I remember, by how much he looked like my dad. That made me hopeful. “I don’t think he has Down syndrome”, I whispered to my husband, “he looks like my dad!”

“He does look like your dad!”

“If he had Down syndrome, I don’t think he’d look like my dad.”

I felt relieved. Maybe this was all a mistake, something I look back on one day and laugh at.

The next morning, I was allowed to hold him for the first time and attempt breastfeeding. The nurse assured me that it was going to be difficult for him and not to feel discouraged if he didn’t get it right away.

Then, something transformative happened the first time I picked him up. I remember feeling like I had just replaced a part of my body that I hadn’t realized was missing — like suddenly my arm was reattached and I could function again. All was right with the world, and for the first time, I smiled. He took to breastfeeding immediately and without hesitation. The nurses in the NICU couldn’t believe it. They told me they had never seen a NICU baby breastfeed so effortlessly.

He was capable.

He was smart.

I was proud.

The weeks after Ray’s birth were a whirlwind. Because Bogota is such a high-altitude city, he continued to have trouble saturating oxygen, so we were living tethered to an oxygen tank in our bedroom. We decided to sink most of our savings into obtaining an airplane-safe, portable oxygen tank and flying to the coast of Colombia, where we rented a room for 3 weeks, hoping that at sea level, Ray’s lungs would develop more and his breathing issues would resolve. For 3 weeks, my husband and I sat with him in a small hotel room, overlooking Santa Marta, Colombia and contemplating our new life with Ray and with Down syndrome. Sure enough, at sea level, Ray was able to come off of the oxygen support and we were given our first glimpse of “normal life” with him.

We returned to Bogota, hopeful that his lungs would tolerate the altitude this time. They didn’t. He had to go back on the oxygen and seemed to be struggling even more than he was before we left for the coast. “That’s it”, I said to my husband, “we have to get out of here.” In five days, we sold all of our furniture, hauled Ray and his oxygen tank to the U.S. Embassy to file for an emergency passport, and blew the last of our savings on the services of an expedited moving company and last-minute flights to Boston.

The second we landed in Boston, my husband clipped an oxygen saturation monitor on Ray’s toe. His levels were nearly perfect. “He just wants to be near the sea”, we joked.

We settled into my parents’ house in Maine and for the first time in 6 weeks, we could all breathe. Ray was safe and our lives with him could begin. We never needed the oxygen tank again.

Ray began to grow and thrive in the fresh New England air and we were able to reach out to local Down syndrome organizations and connect with other families who have become our dear friends and mentors in this journey.

Ray will be 3 this spring, and as his school-life begins, I know that we’ll have new mountains to climb and more decisions to make. But for now, we have found our normal. Ray is a world traveler, having been back to Colombia at a year old to trek through the jungle, and then touring through Europe in our Ergo the summer after he turned 2. He is learning English and Spanish, and will dance enthusiastically to just about any kind of music. He’s funny and clever and so profoundly human.

I spent so much of my life ignorant to full scope of human value and potential. Ray has changed the entire way I look at the world. I’m not sure if I believe that things happen for a reason; things happen, though, and I do believe that we always have the choice to find reason or create purpose in them. I’m grateful for the opportunity to parent a child with Down syndrome and I will continue advocating for a more balanced and accurate representation of this experience in mainstream society. So much of my fear and sorrow about Ray’s diagnosis came from a lack of information and a completely misguided perception about Down syndrome. I want other mothers who have recently received the same diagnosis to know that it’s not just going to be ok, it’s going to be great. Down syndrome has given our lives so much texture and beauty, and I can’t imagine it any other way.

Taylor, Pablo, and Ray live in the White Mountains of New Hampshire with their dog, Leo. They love to hike, dance, and travel whenever they can. Ray will be 3 this spring, and he loves to eat mangoes, dance to bossa nova, and chase Leo around the house. He’s also soon to be a big brother!

Instagram: @aworldwithray

Down Syndrome on the Mission Field: A Missionary’s story of a Birth Diagnosis

October 25, 2017 by Guest Post 8 Comments

I first met Becky and her family years ago, it was a brief meeting and one that I had no idea would mean that in the future we would share a connection deeper than most mothers. You see, Becky is an American missionary to Ivory Coast in Africa and she and her husband have a daughter with Down Syndrome. This is not something I gave much thought to years ago when I first met her lovely family during a church visit. However, time changes things. I timidly reached out to Becky after the surprise birth of my son, Cedar, to let her know that we had this deeper connection. I say timidly because I now feel guilt that I did not reach out to her more warmly and lovingly the few times our paths crossed when she visited the states with her family. Her daughter, Morganne, is a beautiful soul, but back then, I still did not know exactly how to interact with or engage someone with Down Syndrome. I didn’t understand. Now I do.

I reached out to Becky as I didn’t know her story, I only knew her daughter’s name and how to reach her. My church has been privileged to be involved in the ministry of Becky’s family for years, but I didn’t know this mama’s personal diagnosis story. She was lovely, graceful, and kind and here is what she shared…

My name is Becky and I live in Bingerville, Ivory Coast. The Ivory Coast (Cote d’Ivoire) is a sovereign country in West Africa. I came here to Africa after marrying my husband in 1991. The first week that we met, he told me that he was 26, did not date for kicks anymore, and he was going to be a missionary in Africa. So, I knew where I was headed if I married him.

Even though I did not feel special enough to be a missionary, I was willing, and I found that was all God was looking

for in me. I have loved being married to my husband and living here in Africa. My role is defined, first of all, in learning daily to love the Lord through serving and helping my husband in the ministry.

I found out in the delivery room here in Abidjan that Morganne had Down Syndrome. I had no idea as nothing showed up in any of the preliminary diagnostics. It was a complete shock, and I could not even remember the name Down Syndrome when I first saw Morganne!

Immediately upon seeing Morganne, the nurses took her to start working with her. She was not breathing well and was blue. She was at a table not far from me, and every time my husband looked over at them while staying by my side, they would look down and not look him in the eyes. He knew something was wrong. Finally, they came by and showed the baby to me, not saying anything, and then took her away to put her on oxygen. I knew when I saw her face something was very different. I asked Bob, and he said it will be ok.

We then had to be persistent to find out what was wrong. Here in the Ivory Coast, the doctors assume that the patient and loved ones will not be able to deal with bad news. For this reason, the doctors will not tell you the real problem. They knew something was wrong, but they only said that they would do some tests. Finally, the doctor came to see us. It was then that he told us that he was not sure that Morganne would live, and that there seemed to be a problem with her heart.