Congratulations- A Down Syndrome Diagnosis (Emmie’s Story)

March 12, 2018 by Guest Post 2 Comments

I remember the moments all too well. The moment when I sat there alone hearing that a blood test was recommended to see what was going on…the moment that I sat there crying telling the girl drawing my blood that I didn’t know if I could do this, but that I knew I had to take care of myself before I could take care of anyone else (meaning, my husband)… the moment that I was told Emmie had a 99.1% chance of having Down syndrome. I remember them so vividly that it feels like it was yesterday.

But it was over a year ago. It was almost a year ago that I started the most wonderful journey of my life when Emmie came into the world.

And in the last year I have learned so much. About myself. About my job, my husband, my family (immediate and extended), social media, companies, laws, my child’s diagnosis…the list goes on. But today, I want to take a minute to talk about what I have learned from the last year and a half.

I was pretty early on in my pregnancy (about 12 weeks along) when I got the phone call and Dr. Walker saying:

“Hi Kortney, we got the results back from your blood tests. It shows that you’re having a baby girl, congratulations, and that she’s got a 99.1% change of being born with Down syndrome.”

“…wait… what? Down syndrome?” I asked

“Yes. That’s what the results came back as. Down syndrome.” She responded

“Not Turner syndrome? I thought we were concerned about Turner’s syndrome?” I asked back.

“I’m not seeing results for Turner’s but this test is pretty accurate and it shows a good chance of Down syndrome. Let’s have you come in in a few days and we’ll talk about what this means going forward. Have a great night!”

And then she hung up the phone.

I was so confused. I was prepared for the worst. I was prepared for a baby that was never going to make it to full term or die at childbirth. The scans had shown so many indicators (soft markers) for it. So I now had to re-collect my thoughts and figure out a new plan. I stood there in the bathroom, staring at myself in the vanity thinking “Now she’s got Down syndrome, too? This isn’t what I was expecting. I’m not prepared for this.”

I would be lying if I said I didn’t cry when I found out that Emmie would most likely be born with Down syndrome. In fact, I honestly thought “How did this happen to me?”

After I got the diagnosis and I had actually started to think about what could possibly go wrong (There were so many “could be” situations that came along with this diagnosis. Cancer, heart disease, open heart surgery, diabetes, blindness, deafness, speech issues, feeding issues, sleep issues…the list goes on and on. And some of those fears are still very real. Some have gone away.)

And for a moment I thought it would just be easier if she was never born. I was so afraid of how this would affect my future world that I had dreamt up. I had visions, and some of those visions have changed, but some of them have not.

I think back on those days now and wish I could wrap my arms around my devastated self, crying alone in my walk-in closet, and say “It’s all going to be okay.” I tried and I tried to tell myself that over and over but my uneducated got the better of me and I was easily sucked into a self-pity party and the tears would come back. (I say that because I was informed about Down syndrome as I’m a teacher who has had students with Down syndrome in my Foods Classes, but not properly educated about their lives and abilities)

A few days later we found ourselves sitting in the Dr’s office again, waiting for Dr. Chalmers to come in. I remember being so nervous. Like I was going to the Principal’s office for something.

I remember him coming in so happy. He slid the rolling chair over and plopped down saying “How are ya today? How’s business going?” just as he always did. I think he could read the emotion and the nervousness on my face.

“We’re fine. Business is good” I said trying to be the happy person I used to know…

“So, I hear Dr Walker called you with the exciting news” he told us

I sat there and thought “Exciting?? Are you kidding me?!”

I didn’t even had a chance to respond when he started saying:

“I’m sorry this pregnancy isn’t going the way you planned or thought it would, but Down syndrome is the greatest thing. I have a {family member} with Down syndrome and man, what a blessing! {This person} has a job, goes on vacation, is so funny. We love {this person} – like, probably the favorite family member. No, definitely is the favorite person in the family. Like, we all love going to family reunions because of {this person}”

I remember the mood instantly changed in the room, and so did my attitude. I went from thinking “I can’t possibly do this” to “This is going to be okay. We are going to be okay”

I don’t remember much else about that appointment or what else was said but I remember him saying “Okay, well take a few days, do some good research, call us with any questions and then we can talk about what you decide. This is going to be fun!”

And just like that- my world was put back together. It may have been glued with Gorilla Glue, and it didn’t magically fix the issues that we were looking at, but it changed my life. There is a part of me that truly believes that I never would have carried Emmie to term had I experienced something else. We still knew that Emmie had an uphill battle, but instead of it looking so dark and grim, it was looking a little lighter and happier. All thanks to a Doctor who was willing to cut me off and tell me how it really was; someone who had actual real life experience with this and wanted others to experience it with him.

For me, this is what I needed- time to cope and research, and have the backing of an experienced medical staff to help me along every step of the way, doing anything they could to help me find the happiness and peace that I needed to enjoy my pregnancy.

And now- over a year later, I’m still learning things. At first with Emmie, I thought that my Doctors didn’t know what they were doing. I thought they had some expectations of what her life should be, and would be. I was almost positive that I knew more than them. But as time has shown, they do know her, and they do know what is best for her. They have been so open with me about what is best for her, and how to treat her. We’ve had some great conversations about how Emmie is breaking all the rules on Down syndrome and showing the general population what it’s really like. Now, granted, we’ve have some super good luck with our little Unicorn Princess, but she’s been able to reinforce that a diagnosis doesn’t mean the same thing for every person. She’s hit her milestone. Some of them have been early. She sits, rolls, claps, waves, eats, sleeps, drinks, gives high fives, plays, laughs… just like any other baby. She has her likes and her dislikes. She has her feelings and she’s not afraid to show it. She has her routines and she likes them. She has her successes and her fails. And we all (Doctors included) love every second of it.
Because she’s been so healthy and active, we have to sometimes remind ourselves that she does have Down syndrome. We don’t look and her and see Down syndrome. She was going to change our lives no matter what. She’s our first baby. We have/had nothing to compare her to. We know no different than her, and we wouldn’t change it for the world. She’s the best thing that’s ever happened to us. Okay, maybe I’m a little more paranoid and over protective, too proactive in her life… But that hasn’t been a bad thing. This is something that our doctors have come to appreciate and help me to cope with. They laugh when they think about how the next child will be treated- they are almost positive I’ll be the most overprotective mother ever. But the way that I look at some of these “fears” now- is that we have warning with Emmie. We have a road map so to speak. When something is going wrong, we know where to start. We know what to expect, what is common…

At first, I was afraid to tell many people about the diagnosis we had been given. Because quite frankly, I was afraid they would tell me what to do. And I needed my own time to figure out what was best for me and my growing family. But now, it’s something I constantly share. I want to show the world that Down syndrome isn’t scary- it’s beautiful, and exciting, and happy.

Kortney is a full time teacher at a local high school. She and her husband are also business owners living in Utah, trying to encourage other businesses to make their workplace an inclusive workplace as well. She loves to dance, sew, design, and make others feel good about themselves by selling Rodan and Fields on the side. She is an avid shopper and loves to find a good deal. Follow her on Instagram @kortney.b and on her blog here.

Have you gotten your gear to show support of loved ones with Down Syndrome? Use code “wdsd” for FREE shipping until 3-21-18 when you order today!

The Most Treasured Gift- Lorelai’s Diagnosis Story

February 5, 2018 by Guest Post 2 Comments

I sat on the crinkly paper covering the exam table in the ultrasound room, my husband Jonathan
within arm’s reach in a chair next to me. I ran my hands over my belly, excited to soon see my baby
wiggling on screen, but nervous for what the doctors might find. We were in the perinatal unit of
the hospital to get a high-powered ultrasound that day. And unknown to us, we would also hear our
baby’s diagnosis for the first time.

Diagnosis Day was a completely foreign concept to me. I’d never even heard the term before
experiencing my own. Getting any diagnosis for your unborn child is a terrifying experience, full of
what-ifs and unknowns. A Down syndrome diagnosis is no different.
Diagnosis Day was one of the scariest and most painful days of my life.

At 12 weeks pregnant, I got the standard litany of blood tests. The fear started as a tickle when a
nurse called to go over the results. The chances for a genetic disorder had jumped into a range that
was mildly concerning. I still remember her saying, “It’s not great, but it’s not bad.” We only had to
wait a few days before the ultrasound, which they scheduled to get a better look at things. But the
nurse assured me that it was simply to rule out the worst possibilities.

Something was wrong at the ultrasound. The tech grew unusually quiet and serious. I’d had this
experience just a few months prior. I was pregnant for the first time and went in for a dating
ultrasound with Jonathan by my side. The silence in the room was deafening, and after long
minutes, the tech told us with sadness that our baby had no heartbeat. After experiencing that
devastation, it was hard to know at this appointment whether to delight in every image and
movement we saw on the screen or to wait in dread for what the doctor would tell us.

As soon as the doctor came in, my heart sank. He told us how sorry he was, but the ultrasound
showed a cystic hygroma and an absent nasal bone that raised the chances of Down syndrome to 1
in 4.

Our hearts shattered, and we cried, our world crumbling around us. Our baby had Down syndrome.
The doctor’s sorrow made the diagnosis feel so dire, like the worst possible news, and we believed
that it was. A few minutes later, we talked with a genetic counselor over the phone, and her tone
was as sorrowful as the doctor’s. This was bad.

The doctor presented us with two options to confirm the diagnosis. An amniocentesis is the only
sure prenatal diagnostic test for Trisomy 21, but for us the risks outweighed the benefit of knowing
with certainty. We opted for the Harmony blood screening, and the lab tech drew my blood while I
clung to the shred of hope I still had that the doctor was wrong. But in my heart, I knew that he
wasn’t. Our baby had Down syndrome.

We went home and wept. We wept for the loss of the baby we thought we would bear, for the loss of
the future we had planned, and in fear of the future we thought was certain. We were convinced our
future would be one of caring for a child whose disabilities would end our lives as we knew them
and make us slaves to the everyday tasks of living with disabilities. We wept for the things our child
wouldn’t get to do, the person she wouldn’t be, the dependent adult we imagined would be left all
alone with no one to care for her when we died. The grief washed over us in waves.

We spent the evening looking up stories of Diagnosis Days. Jonathan read aloud story after story. All
unique, but they had the same things in common. Everyone experienced grief at the news, but every
parent spoke of how wrong they were that day, that what life was really like with a child with Down
syndrome was so different from what they feared. To our surprise, we kept reading how normal
their lives were. Yes, there were more appointments and therapies and milestones that were slower
to reach. But there was joy. So much joy. Their children with this dire diagnosis were lovely and
delightful and important members of the family, just like any other child.

These stories buoyed our spirits, yet our hearts refused to be comforted. Yes, these families loved
their children and their lives were good, but that’s not the life we wanted. How selfish it feels to
write these words now, but they’re true. It’s the mantra that played in my head over and over. This
is not what I want.

Jonathan and I are surrounded by an amazing community of friends and family. Going through
something this painful and scary, it’s tempting to withdraw, to shut people out, to try and deal with
it on your own. But in my experience, life is better lived by facing the scary things with people who
love you by your side. Our pastor came over to sit with us and listen to us process. The ability to
speak the dark and scary things without judgement is incredibly freeing and healing. That was a
great gift.

The next day we had an in-person appointment with a genetic counselor named Mary, something
I’d recommend as a necessity for anyone who receives a prenatal diagnosis. Mary was kind and
calm and knowledgeable. She gave us the facts we needed, along with sympathy, and she listened to
us. She passed no judgement on where we were at in our process. In fact, Mary was a lot like a
pastor. We had no idea how much better we’d feel after talking with her, but it made a huge
difference in our spirits that day.

Over the next few days we alternated between spending time just the two of us and spending time
with close friends and family. We even paid a visit to our marriage counselor, Pat. Not one person
spoke anything negative to us. In fact, every person told us how loved our daughter would be and
what a gift she would be to us and our community. The overwhelming haze of grief and fear began
to clear, and we found our strength again. We could do this.

That’s not to say we didn’t still grieve. We had a specific picture of our lives and our baby, and Down
syndrome wasn’t part of that. When the Harmony test results came back positive, we could no
longer deny that Down syndrome would be part of our story. We had to grieve the loss of that life
and that “healthy” baby. We allowed ourselves to feel whatever we were feeling in each moment
and grieved our hearts out. I’m thankful we had a prenatal diagnosis for this reason. We had the
space to grieve so that by the time our daughter was born, we could simply delight in the joy of her
arrival. And it gave me time to research and plan, which helped me wrap my head around how our
lives might look, since I didn’t personally know anyone with Down syndrome.

Now let me take a moment to address an elephant in our story. The day we received the Down
syndrome diagnosis, we considered all of our options. In the midst of the fear and confusion, all we
could picture was a dire future. The positives we read in other stories didn’t seem possible. We
imagined the worst: a child with the most severe of disabilities, completely dependent on us
through adulthood and then left all alone when we died. We seriously wondered whether this was
something we could do.

As ashamed as I am to say it now, I didn’t think I could. I thought that
ending the pregnancy might be for the best. Imagining continuing the pregnancy wracked me with
grief, as did imagining terminating it. I felt like I was in an impossible situation with only two
terrible options. All I wanted was the third option of a healthy child.

I cry now thinking about how I could have missed out on life with my precious Lorelai. That I could
have let fear win and not experience the amazing joy our daughter brings to our lives. And it was
our community surrounding us with love and support that helped us see how our fear was lying to
us. It only took one day to realize that saying yes to our little girl was the right choice. She belonged
in our family, diagnosis or no diagnosis.

I am so thankful we didn’t give in to our fears. Lorelai is smart, brave, hilarious, determined,
spunky, opinionated, gorgeous, and the sweetest little girl with an incredibly loving heart. Imagine
if my fear of Down syndrome had caused me to miss all that?
I look back on Diagnosis Day and wonder how I could have ever been so sad. Lorelai couldn’t be
more perfect. In fact, I think her extra chromosome is what makes her so perfect. And to think I was
scared of that extra chromosome. I often wish I could go back and tell myself not to be scared or sad
or worry about Lorelai. But that was all part of my process, and I had to go through the grief to get
to the joy.

Lorelai just turned a year old. At five months old, she had open heart surgery to correct a complete
atrioventricular canal defect, and her heart is now strong and healthy. She’s a social butterfly, gives
the best hugs, makes friends with everyone, and loves to laugh. She goes to daycare during the week
and flourishes with her typical peers and teachers who love her. She has a wonderful occupational
therapist, Caity, who works with her an hour each week at daycare. So far Lorelai has met all of her
developmental milestones, but she’s still working toward crawling. Her slightly lower muscle tone
means she has to work harder on gross motor skills. But I’m not worried about her development.
She’s bright, clever, and a hard worker. She’ll get there in her own time. And I wouldn’t miss a
minute of it. Lorelai is our greatest gift, and I’ll forever be grateful that she chose us to be her family

Camille lives in Portland, Oregon, with her entrepreneur husband Jonathan, Jack Russell pup Penny, and their most treasured gift, Lorelai, who just happens to have an extra 21st chromosome. Camille works in the nonprofit sector, writes paranormal and urban fantasy for fun, volunteers with high schoolers, and loves Disneyland and Buffy the Vampire Slayer with a passion bordering on the obsessive. Down syndrome is a journey she never expected, but one that has opened her heart and mind to the beauty of diversity, the power of inclusion, and the value of all people, regardless of ability. Follow the family on Instagram @disneyboundanddown

Everlly Brightens the World- A Prenatal Diagnosis Story

January 24, 2018 by Guest Post 3 Comments

I was 26 years old when we found out Everlly’s possible diagnosis of her having Down syndrome. It was at our 20 week ultrasound. Scott and I were so giddy to see our baby. Just the two of us seeing our little babe swimming around on the screen.

We both wanted to not know if we were having a boy or girl. The ultrasound technician was actually in training and she was taking a bit longer than we expected, which we just chalked it up to her being new. But, still she was very quiet and didn’t say too much.

We finished up and headed to see my doctor. I remember both of us were goofing around and laughing hysterically. In came my doctor. She proceeded to tell us that our baby had markings for Down syndrome. At that point I seemed to just go into a tunnel. I remember thinking…we are young and this is our first baby, it’s not supposed to be like this. That’s when my doctor said we had to consider our “options”. Both of us, pretty much at the same time, stated we weren’t having an abortion.

I know it was her job to give us an option, but I do hold a bit of a grudge against her to this day. Needless to say, I never picked her to be my doctor for our next 3 babies.

As we left the doctor’s office, I was crying, crying so hard I was leaning up against the clinic walls, walking/stumbling, my husband trying to hold me up as best he could. Then getting into the car. We both didn’t go into work the next day. We did tell our closest family members and friends. They supported us, which we are very lucky to have those supportive people in our lives. I guess when I look back on it, I’m glad we found out when we did, so we could prepare as best we could for her arrival. Of course, when going back to work, I turned in some appointments I had to get off of work. And my boss came up to me, stating that you don’t ‘have’ that many appointments when you’re pregnant.

And the words came out of my mouth, “There’s something wrong with my baby.”

Long story short, I never had a problem getting time off work after that. We did have a lot of ultrasounds to keep watch on the PDA in her heart, possible hydrocephalus and her growth and development. We saw a genetics doctor as well. We were both coming to terms with our child having Down syndrome. And she just had no bedside manner. Sounding like a robot she said things like, “Your baby could die. Your baby could die after it’s born. Your baby could possibly never walk or talk.” Later though at a follow-up appointment with the same genetics doctor, she was in awe of how Everlly was developing. (read about that here)

We spent the remaining months of my pregnancy with more appointments and working on our baby’s nursery. Honestly though, when I look back on it all, I wish I prepared a little more, read a few books, reached out for help from others that went through the same thing. I could have been in denial and was hoping for a different outcome in the end. Which I do feel guilty now for feeling that way.

I started to go into early labor June 16. I was working at a local newspaper as a graphic designer and as I worked I timed my contractions. I still went to work on June 17, but when I left work my contractions were getting much closer together. I knew I wanted to labor at home as much as I could handle it. We finally decided to leave for the hospital around 11 p.m. in the middle of a thunderstorm. Labor was intense and I finally gave in and got the epidural. I pushed for 3 long hours with her. I was exhausted and Scott was so very supportive, but annoying me all at the same time…I actually did end up slapping him, by accident, because I needed him to just stop talking for a bit! My doctor was very patient with me.

Finally at 10:43 a.m. on June 18 she entered the world! It was the first time I saw my husband cry. He was so proud and so happy!

The nurse placed her in my arms and I looked up at Scott and asked if he thought she looked like she had Down syndrome. Another thing I feel guilty for saying. When it was time to go to my room, I was being pushed out in a wheelchair and a nurse placed her hand on my shoulder and said, “I’m so sorry!” Right then, I had a wave of emotion come over me and I thought to myself, why should she feel sorry for me? I’m going to be okay…WE are going to be okay! I’ve never wanted anyone’s pity, because she was given to Scott and I for a reason. She is a gift from God.

In the days that followed, we encountered a bad case of jaundice and she was very dehydrated. I wanted so badly to nurse her and she wasn’t getting enough milk since she wasn’t feeding properly. She was admitted back to the hospital for a day and then we were sent home with a biliblanket. We adjusted to life with our baby girl. We heard our fair share of hurtful comments, but with the bad, comes the good. Like I said, we had great support from family and friends.

As time went on and Everlly grew, the diagnosis of her having Down syndrome wasn’t such a huge deal. Yes, in fact, she is diagnosed with Down syndrome, but it sure doesn’t define her. She’s overcome a lot of obstacles. And when I was feeling sad because other babies her age were sprouting and doing the things that a typically developing baby was ‘supposed’ to do, Scott and her Birth to Three occupational therapists were there to tell me she WILL do it, just give her time. And sure enough, she accomplished it. Everlly never crawled, instead she scooted on her butt! It was cute, real cute!! She didn’t walk until she was 2.5 years old. Her daddy even built her parallel bars made out of PVC pipe. (see those here)

So far we’ve been lucky health wise with her. Her PDA closed on it’s own. When she was 6 months old she got pneumonia and they found a diaphragmatic hernia on her chest x-ray. She had surgery for that at 7 months old and shortly after that I stopped nursing her. I was thankful I got to give her breastmilk for that long. She’s also had her adenoids removed and a few years after that they took out her tonsils.

This year she started first grade. She’s reading, writing and drawing pictures. She’s growing leaps and bounds! We are so proud of her. She has such a silly personality! She can be a bit dramatic as well. My sister laughs at how Everlly likes to throw in the conversation “REALLY?!” and there’s so much spunk and attitude behind that when she says it! This coming June she’ll be 8 years old…I wonder how 8 years have passed by so quickly. From a time when I thought she’d never walk and now she runs! She loves to shop, play pretend restaurant, wants to take a shower without any help and when I try to help her with something, I hear, “mom, I got it!” She’s a very independent young lady. I’ll also add she’s a great big sister and she has such a big heart!

I’m sure most if the parents that read this have kids that have seen Trolls and it’s been on repeat for like the 10 millionth time, am I right?! Well, as I’m writing up Everlly’s story, Everlly and Bayha are at school and I have Trolls on for my son, Callyn. A little distraction so I can write this and maybe have a few less interruptions than usual. In between writing and then making lunch for him and feeding lunch to Millyr, that song that Poppy sings as she’s on her journey to Bergen Town to save all her friends, starting off like, “I really hope I can do it…” And then another part that goes, “Hey! I’m not giving up today, there’s nothing getting in my way and if you knock knock me over, I will get back up again. Oh! If something goes a little wrong, well you can go ahead and bring it on…”

I have heard that song many many times, but when I’m thinking of Everlly’s story and then it’s playing in the background, it made me think how that song resonates with Everlly and our family. Sometimes life doesn’t always work out how you envision, but then you decide to pick yourself back up and keep on going. And yeah, you’re going to hit a few bumps along the way, but just don’t give up! Everlly has shown us a lot in her almost 8 years as her parents and she’s going to show us a lot more as she grows and becomes even more independent…so I guess you could say, we’re not giving up today or any other day for that matter!

My name is Jami Kloth. I live in Colby, Wisconsin, along with my husband, Scott, and our 4 children, Everlly is 7, Bayha, is 4, Callyn is 2 and our newest addition, Millyr is 8 months old. And one of our daughters, Everlly, was born with that extra special chromosome. I’m a lover of cooking, which has taken me a few years to come to actually love it. My husband says he enjoys eating a variety of food now besides the spaghetti I used to make in our earlier years as a married couple. I also love photography and of course taking pictures of my kiddos. I have been a stay at home mom for almost 4 years.

Check out Jamie’s blog and be sure to follow Jamie and Everlly on Instagram @4ever_bay_call_mill

Leo’s Down Syndrome Diagnosis Story- An Extra Lucky World

January 18, 2018 by Guest Post Leave a Comment

We received Leo’s diagnosis in my first trimester. I remember going into the 12 week screening test with my mother, my one year old daughter, and my mother-in-law. To me, this sonogram was just a check up on the baby. The basics: the heart and the brain. It never occurred to me that this was when they checked for markers for genetic disorders. The only thing that mattered to me going into that visit was to see my baby move. And he did.

Leo was moving, sucking his finger, and squirming around in my belly. My eyes teared as I stared at my baby, wondering whether it was a boy or girl. The tech finished and told us she was done and was going to go get the doctor. This was all routine stuff that had happened with my first child. A few moments later the tech came back in and said that the doctor wanted her to do a vaginal ultrasound. This was when the first alarm went off in my head. I told my mom to take my daughter home because she was beginning to get antsy and it was getting close to her nap time.

In all honesty I wanted my mom to stay there with me and hold my hand just in case, but I kept insisting she take my daughter home.

I asked to go pee before they shoved something near my bladder. In the bathroom I remember I kept praying to God to please let everything be ok. I told God that I couldn’t handle if something was off with my baby. I asked my mother in law to wait outside while they did the vaginal sonogram. When the tech finished, she left again to get the doctor. I kept saying to myself that nothing was wrong. I had seen the baby move and he looked perfectly beautiful and strong. When the doctor came in I saw her face. It was a serious face. She asked me if I was alone. At that moment I wanted to cry. It still had not occurred to me that Trisomy 21 was one of the many things she could tell me my baby had, but I knew she was going to give me “bad” news. I told her I was with my mother in law, but that she could wait outside. The doctor and the tech closed the door behind them and I caught a glimpse of my mother-in-law’s face. She knew. We both knew something was off.

I can’t remember exactly what the doctor said next, but it was something along the lines of, “Unfortunately I see something here that could be a problem.” I wanted to disappear. I’ve never felt so alone in my life. I kept my eyes wide open, scared that if I blinked I would begin crying. I wanted to be strong and I thought that meant not crying. She went on to explain the possibilities of what my baby could have. Then she gave me options. Invasive testing to determine 100% if my baby had a chromosome abnormality, termination, or blood work that would give us results that were 99% accurate.

The only option to me was the blood work. I called my husband to tell him what was going on. He was working and couldn’t come to the sonogram. He agreed that was our only option. He then said, “It doesn’t matter what the tests say. We will love this baby no matter what.” I loved him for saying that, but I was still scared. So much so that when they went to go take out blood, they couldn’t because I’m pretty sure the blood running through my veins stopped for that moment in my life. I went outside with my mother-in-law and as she tried to give me reassuring words I soaked in the sun. She said that she was sure nothing was wrong and that it was probably a mistake. She even went on to joke that she thought it was a boy because boys always give mothers the hardest time.

I spent two weeks waiting for the result trying to convince God that I wouldn’t be able to handle a baby with Trisomy 21 or any other disability. I was even foolish enough to try and make deals with him.

God knew better.

The two weeks went by very slowly. I went back and forth thinking whether the test would come back positive. Finally, after two weeks, I got the call to come in to see the doctor. She hadn’t seen the papers yet, but wanted to meet face to face regardless. My husband was interviewing for residency when I found out. Fortunately, my mother was able to make it with me. I could tell she was trying to be strong, but I knew that hearing the diagnosis was just as hard for her to hear as it was for me. In front of the doctor and for the rest of that day I tried very hard to stay strong and positive.

I kept repeating to myself that this was too small of a chance that happened to be considered a coincidence. God, for whatever reason, was placing this baby in our life. Perhaps to be better people? Or to experience being loved in a way that many people do not get to experience?

Dad’s attitude from the beginning made me love him even more. Even before we knew for sure that Leonardo would have DS, he said that no matter what the tests showed, this baby would be a beautiful blessing and would change our lives for the better. He told me that he had always heard wonderful things about people with Down Syndrome and their families. When he found out, he re-affirmed this thought. He said, “That’s my boy!” He was excited for this new journey we would go on together.

I wish I shared his strong positive view from the beginning. I was so scared, mainly because I didn’t know. I had never really met anyone or heard any stories of someone with Down Syndrome. The night after the diagnosis I had so many concerns. The main concerns were whether I would be the mother that my two children deserve. Whether Leo’s older sister would have to grow up faster than most kids because of this diagnosis. Whether I would push Leo hard enough to reach his maximum potential.

I have thought over and over again whether it would have been better to find out when Leo was born. I have come to the conclusion that, like many things in life, there is no definitive answer. I can see the pros and cons for both sides. It was nice to find out before Leo was born because it gave me a chance to mentally and emotionally prepare. I was able to educate myself and talk to other moms who have kids with Down Syndrome without having to worry about taking care of a newborn and a toddler. On the other hand, I’m sure it would have been easier to accept the diagnosis holding on to my sweet little boy while staring at his perfectly beautiful face.

Since the day we found out, I have learned so many new things. My perception of what it means for someone to have Down Syndrome has changed completely.

I will never be able to explain in words how blessed I am to have such a wonderful support system. Our family has welcomed Leo into their lives even before he was born. Yes, I’m sure they were just as in shock as we were to hear the diagnosis, but despite that they have shown their unconditional love for our growing family. I have also learned to lean on my husband without feeling embarrassed or weak. We have found that when I am nervous or scared he seems to be calm and when he feels nervous or scared I am the one who is not worried.

For example, a few weeks after receiving the diagnosis, I told my husband that I was sad that Leo would not be able to have a normal life like any other regular boy. He might not get married, or have children, or live on his own. The day that other mothers fear, when their boys leave them and begin their own independent life, I wished for.

My husband stopped me and reminded me that Leo could achieve all those things. It might take him longer, but it was a possibility. He reminded me that our son would also be able to achieve things that other “normal” boys might never experience in their lives. Of course, I still have some feelings of doubt, nervousness, and fear of the unknown, but they are very similar to the feelings I have with my daughter. They are feelings most parents have. It is part of being human. The important thing is to remember to keep looking up at all the beautiful things life gives you. My baby is now 8 months old and it is impossible to think of my life without him in it just the way he is.

My name is Lisi and I am 26 years old. My degree is in Industrial Engineering, but my real job is being a mom to two of the sweetest babies. My family is like the one from ‘My Big Fat Greek Wedding’ only Latin instead of Greek so my chromosomally enhanced Leo has been lucky to have so many people who have loved him even before he was born. Follow our journey on Instagram @ourextraluckyworld

Down Syndrome Diagnosis in a First Time, young mom

October 30, 2017 by Guest Post 1 Comment

Down Syndrome diagnosis in a first time mom, it is an anomaly that can occur in any pregnancy regardless of age, race, culture or socioeconomic status. Though it is true that the incidence of Down Syndrome rises for older mothers, that doesn’t mean that young mothers are unable to bear a child with Down Syndrome. When a mother, especially one under the age of 25, finds out she is having a child with Down’s Syndrome, that Prenatal Down’s Syndrome diagnosis in a young mother often becomes a huge shock.

The beauty of Taylor’s story, however, is her embrace of the diagnosis and the life she and her family lead with little Treg as their tour guide.

Here is Taylor’s story:

I remember that my husband and I were sitting in a room for our 20 week check up. We were talking to the doctor about why we got charged $2,000 dollars from a lab company for blood work, after all, we had denied all testing.

But at about 16 weeks a nurse came in and took my blood. We asked her why and her response was “its routine, we need to check your blood type, and send all your blood work information to the hospital for delivery.” Somehow my blood work got sent in for quad testing. (Now I thank God that it did, he truly has a hand in every detail of our life).

“Look, guys, I know you were wondering about the bill from the lab company, but it’s pretty much mandatory we do these testings now…. and listen we got the results okay? And, we need to discuss what was found…

You got a positive result for Down syndrome on the testing. How it works is that it takes your blood and factors in a bunch of information about you, and if one thing is wrong, like the conception date, it can mess the whole testing up. I’m sure it’s okay, he won’t have it okay? You are so young, the possibilities are like none.”

I stopped hearing at this point, I was focusing on holding back my tears, I could hardly breathe, the room became really small, and I just couldn’t breathe.

I wanted to shout at the doctor to shut up and leave. What was he even saying at this point? At least Jordan was listening (my husband).

Then it dawned on me…Jordan is still here… I looked up into his eyes, “Sorry” That’s all I could say. I was so sorry. I wanted to give my husband what I thought was a “perfect baby” and I failed, so over and over again, I just said, “I’m so sorry.”

“Don’t cry okay? Your baby won’t have Down syndrome, everything is okay. I can offer you another non-invasive test, but I really don’t think you need it, this will just give you peace of mind.” So I immediately got my blood drawn for cell-free DNA testing.