DownSyndrome

The Dark Side Of Genetic Testing

The dark side of genetic testing.

Let me start off by saying this… Im not a writer. I don’t blog. Words don’t always come easy to me sometimes, especially when they’re about something so personal. This story is my story. These feelings are my feelings, and its my truth. Im still very raw, and vulnerable and weak at moments. So when you read these words read them with that in mind. My words aren’t meant to offend or take away from someone else’s experience with adversity. This is simply my heart. So remember before you judge or try to put yourself in my shoes or try to say how you would have handled a situation, don’t. Because the truth is you don’t know how you would handle a situation until you’re in it. Had you asked me prior to this experience what my reaction would have been I would have laughed and told you it doesn’t change anything. So when you read this, be kind. This is my journey and I’m still on it.

Lets start from the beginning… Im 27 years old and this is my first pregnancy. That being said I know absolutely nothing about being pregnant. I don’t know what questions to ask, what to be concerned about, the do’s & dont’s. I know nothing, I am as green as they come when talking about pregnancy. So when I went in for my first OB appointment I asked every question under the sun that I was concerned about. What should I be eating? Can i color my hair? When will the morning sickness go away? Why does everything smell so bad? Can I use sunless tanner? Is it true I can’t have lunch meat? Because this girl loves a publix sub. What I failed to ask was the important questions. What is this genetic testing you’re recommending I have done? What does it entail? What are the statistics behind it? is this a diagnostic test? What is Trisomy 21? What is Trisomy 18? What is Monosomy X? They sound like secret government agencies (B6-13 anyone?) Oh this test will tell me the gender of my baby at 12 weeks? DONE! Sign me up!

During the next few blissful weeks of pregnancy (minus the constant “morning” sickness) I let myself begin to wonder who he or she might be. What would they look like? Would they have my blue eyes and unfortunate pale skin? Would they have Vince’s dark eyes and (hopefully for their sake) dark skin? or would they fall somewhere in the middle and have a wonderful mix of the both of us? What would they want to accomplish when they were older? Would they have my love of music? I could picture us dancing and singing in the living room of our new house already. Would they be crazy intelligent the way my husband is? Will they be excited when grandpa wants to take them fishing every weekend? Will they like our dogs? Will our dogs like them? And holidays! How fun are our holidays and birthdays going to be now having a kid running around?! But most of all will we be good parents? Will they know they are so loved already and we don’t even know them yet? My mind was wild with excitement and ideas of who this little person may be.

At 10 weeks I go into my doctors office to have my blood drawn for our panorama testing. Eager i ask how long the results usually take. She informs me they usually only take a week or so and they would call once they were in. I ask her to make a note on our file that whoever calls please don’t tell us the sex because my sister was planning a gender reveal for us and we all wanted to be surprised.

Fast forward to 12 weeks. Its October 2nd. I don’t think Ill ever forget this day or the torture I experienced on October 2nd. Its a Friday afternoon and Im driving on my way downtown to do hair for a bridal party. My phone rings from a number I’m not familiar with. I answer figuring its probably just a client looking to book an appointment, which it usually is. A lady named Victoria is on the other end and she informs me my genetic testing came in and they have my results! EEEEKKKK!!! I have the biggest smile on my face because I know this phone call means I’m about to find out if I’m having a boy or girl!! Wrong. So wrong. My excitement quickly turns into panic and fear and every other emotion you could possibly imagine. Victoria proceeds to tell me that “ your baby tested positive for down syndrome” My heart stops. This is what your world crashing down feels like. All those fears and worries we keep bottled up in the dark place in the back of our minds about something possibly being wrong with our baby… those fears are suddenly bubbling at the surface coming out in heavy sobs and gasps for air. I can’t breathe, this isn’t real, what is she saying? Victoria (whoever she is… my worst nightmare at this point) continues on about how they will be sending me to a high risk facility in Jacksonville and they will now be handling my pregnancy. I pull over on the side of the road and start shaking. I can’t form any other words other than “ok” I didn’t know what else to say, or what questions to ask I was so blindsided. This woman just called me to deliver all my worst fears on a silver platter.

I can’t think. This isn’t real. This didn’t happen. Someone messed up.

Trembling, I hang up the phone and can’t decide what to do or who to call next. Do I call my husband at work and rock his world the way mine just was? Do I call my mom and have her raise hell and demand more answers? Do i call this poor bridal party and explain that my world just collapsed and I’m falling apart? So I call my husband. Tears rolling heavily down my face and neck and trying to form words that make sense. It didn’t seem fair to call and do this to him over the phone the same way I had just been told, but what choice did I have? So what next? Thankfully I wasn’t in that car ride alone. My coworker and friend Aimee was by my side holding my hand through the whole thing. She took my phone and immediately called the office back to schedule a consult with our midwife to get more answers. A long painful hour later we get to our doctors office for a chat and the first thing we ask is “ok what does this mean? how do we interpret these results?” “Well this number is your likelihood based on your age for having a baby with downs (1 in 870) & this number here is the panorama result ( >99/100) saying that with 99% accuracy your child does in fact have downs” 99%. 99%!!!! All I could think about after that was how drastically my world was about to change. All my cheery fluffy dreams about this baby were suddenly haunted by the scenarios she was laying out for me. Did you know a baby with down syndrome has a 30% greater risk of miscarriage? Did you know that if they do make it to term they could be born with a number or birth & heart defects? Did you know children with Downs syndrome have a higher risk for childhood leukemia? Did you know that down syndrome is also known as Trisomy 21 & is in fact not a top secret government agency? Oh you didn’t? Me neither. The next thing I remember was her telling me were having a little girl. A girl. Its what my husband & I wanted, a little girl. Someone punched me in the stomach. I couldn’t breath, this hurt more than finding out the results. I lost it. Right there in the middle of the doctors office I had a full on nervous break down. This is not how I wanted to find out who our baby was going to be. I wanted the surprise, the balloons floating from a box, a cake that was blue or pink on the inside. I wanted a celebration. Instead I got tears, and the fear of the unknown. My husband and I decided there was nothing more this office could do for us and we wanted to leave.

The next few hours are gray, I remember my husband driving me home from the hospital. I remember climbing into bed and just letting the fear have me. Letting my body grieve and trying to process what was happening. All those thoughts I had about who he or she might be were replaced with new thoughts. It was a girl. That much I knew. There was a big chance she might be special needs. Special needs. I struggled most days deciding if I was going to be a good parent to a healthy normal baby. How was I going to manage this? I don’t know the first thing about children with Down Syndrome. Will she struggle? Will she be able to walk & talk and carry on the way the rest of us do? Will she have friends who love and accept her? Will she be picked on for being different? Where will she go to school? Will she live with us forever? Will she get married and have babies? All these questions broke my heart the more I thought about them. Would I ever go back to work after she’s born? Will insurance cover her? What about our new house should we save the money and just walk away while theres still time?

Eventually I fell asleep. Sleep was my friend. When you’re asleep you get to escape reality and that is exactly where I wanted to be. FAR, FAR away from reality.

Theres this moment right after you wake up that lasts about 30-45 seconds where you’re blissfully unaware of everything around you. You don’t yet know that you’re quite awake and your mind hasn’t fully restarted. You’re just there, taking it all in and letting your body awaken piece by piece. Until it hits you again. The fear and anguish rushing back towards you crippling you bit by bit. Slowly stealing your soul a little at a time. The tears start again. The pain taking over and the fear of the unknown becomes your whole life.

At this point I remember just being Ill, I was making myself physically Ill from all the stress and crying. I sat on the bathroom floor with my husband and just cried. Your wedding vows start to make sense when you experience heart break. Through better or worse, sickness & health. Sitting in his lap he held me and let me cry. He knew I needed it. He knew there wasn’t much he could say to make me feel better in that moment so he just held me and told me it would be ok. Once I started to come around I remember him saying “its a girl” and smiling. “its the little girl we wanted” and all i could think was… “is it?” Is this the little girl we wanted? My heart was broken.

We spent the next few days researching these screening tests and coming up with a game plan. I was now 12 weeks along and was set for an appointment with my OBGYN office on monday for a routine checkup. We decided we were, to put it nicely less than thrilled with how this office chose to handle our results. And for that reason alone we would not be returning to their practice. The worse part was being given this information on a Friday afternoon. Every doctors office is closed until Monday so you have a long, painful 48 hours of just dealing with it until you can start making phone calls. So in these long, painful 48 hours we tried to make ourselves useful. If I didn’t have anyone to call and ask questions, I was going to learn as much as I could.

My whole family immediately started doing research. Just type in “panorama positive result” into your web browser and look at all the thousands of results you get back. Start looking up panorama FALSE POSITIVE and look at the even bigger result you get back. So in 48 hours time I became more educated on Non- Invasive prenatal screening (nips) than i think my own doctors were. I decided no one was going to care for me and my baby the way I could. I wanted to know everything there was to know about these tests and how they work. So heres what I know…

1. There are 4 MAJOR companies that offer these tests. “ Maternti21, Verifi, Harmony & Panorama”
2. Not a single one of these tests are FDA approved.
3. NONE of these tests are a diagnostic test, they are a screening. If your doctor tries to tell you your test is diagnosing you with 99% accuracy on anything… stop listening.
4. These tests aren’t based on fetal DNA, like they may claim. These tests are based on placental DNA that is flowing through your blood. These can be very different.
5. These tests shouldn’t even be offered to patients unless they are considered high risk. Meaning over the age of 35, or you have a history of these chromosome disorders in your family.
6. There tests are all based on statistics and numbers and “PPV’s, specificity & sensitivity”… whatever the hell that all means.
7. Your doctors probably aren’t even educated on this testing so be sure to educate yourself.

Sunday night I was doing some digging through Panoramas website and found you could request an over the phone consult with a genetic counselor who works for the company. Curious, I decided to request an appointment. Monday morning rolls around and I have my list of questions ready and in hand. I was suspicious at first to say the least because I know how this works. Of course this lady is going to stand firm with her company and their claims. My phone rings at 10am on the dot and its a woman named Diane. I was pleasantly surprised with Diane. This is how my results should have been delivered. She immediately starts the conversation by reinforcing THIS IS NOT A DIAGNOSIS. This test is simply a screening to determine whether or not you may be at high risk for one of these chromosome abnormalities. I explain to her our situation, how we were told, and what we are doing now. She’s instantly horrified and beyond apologetic that our office chose to deliver these results to us over the phone in such a tasteless manner. I have to agree. She starts breaking down my results for me and says that the accuracy of my test is actually more like 91% not the 99% they listed. Well this is already a red flag. Why is this company advertising they have a 99% accuracy if in all actuality its 91%?? As small as it might be, Ill take the 9% over the 1% that someone got this wrong. She continues on about how I should have been given literature on the testing PRIOR to having it done and a booklet to take home AFTER our results were produced. Neither of these things happened, and Ill touch more on this later. We finish our conversation and I come out with a little more knowledge than I had hoped for and decided it was a positive thing.

After I conclude my phone call with panorama my mom and I start calling every doctors office in the area in hopes of getting an appointment and a second opinion as soon as possible. It amazes me the lack of compassion some people have. I know they probably deal with things like this all day long but you’d think I was calling and speaking to men who had no understanding of the urgency I felt. I waited 3 days until I finally received a phone call back to setup an appointment. We opted for North Florida OBGYN and had an appointment set for the next day. After an eternity in the waiting room Im taken back to a small office where the doctor greets me and my husband. We immediately start going over our panorama results and explain to her our situation. My husband and I lock eyes because we can tell that this doctor knows even less than our original doctors did when it comes to these screening tests. She starts her speech with Fetal DNA and i wanted to correct her immediately. Don’t you mean placental? She again tells me I will have to be seen at a high risk facility before they can officially take me on as a patient but asks if we’d like to hear the heart beat.

This is where i felt myself die a little. Laying there on the exam table she jellies me up and places the doppler on my stomach. Within seconds you hear a WHOOP WHOOP WHOOP WHOOP WHOOP and she smiles at me. I can’t make eye contact with her and i can’t fake a smile because all I feel is guilt. and shame. In that moment where I’m supposed to be over the moon hearing my babies heart beat for the first time, I feel nothing. I feel no connection with this little human growing inside me. I thought hearing her heart beat would be the kick in the ass i needed to get my head in the game. Instead I just felt scared. Scared of who she is. Scared this was all becoming a reality. My reality. Id hoped this appointment would bring me some peace of mind and understanding and clarity as to what our next step was. Instead I felt more confused than ever.

I barely made it through 2 clients that day and I had to have a co worker take me home. I was sick to my stomach with guilt and was fighting back tears harder than ever. The worse part is when your clients who do know your pregnant start asking you questions and you have to fake a smile and pretend your excited. Its hard to be excited about a baby when your scared to death of who she is.

That night I went home and did something I hadn’t done in a very, very long time. I prayed. Not for god to take away the possibility of an abnormality but for god to give me strength. Strength to be the mommy this little girl needs, strength to get through the day and be the wife and partner my husband needs me to be, strength to fight for this little girl no matter who she is, strength to be able to talk about our struggles openly and honestly with others. I prayed for clarity, that i could receive wisdom and knowledge and better understanding of how these tests work and what down syndrome really is. I prayed for peace, that my heart would heal and I could start enjoying my journey. Peace, that no matter the outcome we were going to love this little girl all the same.

Friday morning I woke up feeling like a weight had been lifted off my chest. I did feel peace, I did feel strength, I had clarity. My heart felt calm and for the first time in a week I could breath. I woke up that morning and I knew what our journey was. I knew that we were given these results and this obstacle to appreciate our lives a little more. To be thankful, to be grateful, to bring us closer to our family and closer to each other. To bring us back to prayer and back to god. But above all else I feel like our journey is to help educate others on the very real and raw side of genetic testing and down syndrome.

The following Wednesday I finally receive the phone call Id been waiting for. My high risk group was calling to tell me they received my paper work and could get me in that same day for an appointment. Eager for more answers I told them id be there in an hour. First I’m taken back by a genetic counselor who goes over my paperwork and family history. She gives me a run down on how the clinic operates and what to expect. We talk in depth about how these tests work and what my likelihood of actually carrying a baby with downs were. Next I’m taken to a new room with a sonographer who will be doing our Nucal Translucency testing and additional measurements on baby girl. This is the first time I’m actually seeing her, and not just for a minute. We did almost 45 minutes worth of sonograms from every angle you could imagine. They measured her neck, they measured her spine, they looked at her kidneys, her bowels, they listened to her heart, they looked at her lungs, her brain, her arms, her legs, her little hands, everything.

Now I’m no doctor, but if theres one skill I’ve developed over the years from working with clients its how to read people. I didn’t need them to say a word, I could tell by their faces, by the gentleness in their tones, by the lack of words all together. I didn’t need them to say a word. Because I knew. I already knew what they weren’t telling me. Our little girl had this. It was real. That small flame of hope I was still carrying that this was all a mistake was suddenly burning out. I could feel the darkness rushing towards me again, the fear of the unknown.

Next our Doctor comes in to meet with us and discuss the findings from our sonogram. Let me just pause in this moment to say that this woman was the woman Id been waiting for. Kindness, compassion, understanding, she knew what she was saying, she wasn’t just speaking from the scientific side of things, she was speaking to me like a human being. She tells me the sonogram shows her neck is thicker than normal. A normal baby at this stage would have a neck thickness of about 3cm, ours was 6cm. She shows me her nose, and while there is cartilage there is no nasal bone yet which should already be formed. She shows me her head and the swelling surrounding it. She then shows me her heart and explains that even though her heart is about half the size of a pencil eraser they can see signs of irregularities. This little girl isn’t even 4 months along inside me and is already facing so much struggle. Her little heart is already fighting the good fight. She tells me about options for amnio and cvs testing which is the only guaranteed way to say with 100% accuracy this is real. But I know its real. My soul can feel it. I explain that no matter the results I plan on keeping this little girl and carrying her as long as my body allows and an amnio won’t change that. She smiles and tells me “I won’t lie, I have to deliver results like this to people all day long. Its even harder when its a beautiful 27 year old pregnant with her first child.” I know she meant that in the kindest way possible but it was my tipping point, I knew I needed to get out of that office before the waves of panic took over.

On the way home I have to again call and break my husbands heart. I could hear it in his voice, it was the first time he cracked. He’d been such a rock, staying strong and reassuring me this would all be ok. He too was holding that flame of hope that this was all a bad dream. I go through my whole appointment with him step by step and explain the results and tell him verbatim what the doctor told me. He’s quiet. In this moment we both feel our flames of hope burn out. When he gets home from work Im sitting on the front porch of my parents house just thinking about my day and the events that had transpired. He sits next to me and we just hold hands and stay silent. Theres a shared pain that only the two of us can understand. So we just take it in.

That night when sleep usually brings solace, I felt more heartache. My mind wouldn’t stop playing out scenario after scenario. I tossed and turned for hours trying not to wake my husband. I prayed and talked to god for hours about everything I could possibly think of. My hopes, dreams, my fears, my accomplishments, the ups and downs, the mistakes I’ve made, the mistakes I’m going to make, I thanked him for all the blessings in my life, my health, my family, my friends, my career, my sense of humor, my mom for being my shoulder to cry on and the wife my husband needs when I can’t be her, but above all else, my husband. I thanked him for my husband. Because if there is one person in life that can get me through this journey, its him.

So this is our story, this is where we are at today. We don’t know what the future has in store for us. We just know that right now we have a long road ahead of us and were taking it day by day. We have faith in god that this little girl will be the biggest gift we ever receive and she will bring more love and joy to our lives than we could have ever hoped for. This much I know.

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If there is one piece of advice I could pass on to any expectant mom or any family expecting a baby. Think twice before you elect to have these tests done. Do your research, know what you’re getting into and be prepared for the very real possibility of your test coming back positive or inconclusive. If you plan on carrying your baby to term regardless of his or her genetic conditions then these tests don’t matter anyways. If I was granted one do over in this pregnancy I would have opted out of this test. The last few weeks have brought so much stress and heartache that its not worth it. I would have rather enjoyed this pregnancy and been happy and excited and blissfully unaware that there was something wrong. You know why? Because when they put that little girl on my chest, I’m going to love her. Hard. No matter who she is or what condition she may have. She’s mine.

So demand more, if you are given the option for genetic testing, ask more questions. Demand more answers. Your Doctors and midwives are doing you a great disservice not providing you with every detail possible. Its Florida law that your health care provider supply literature on these tests prior to you having them done. Its Florida law that if you do in fact receive a positive nips screening you are sent home with a booklet on the testing and about the condition that you were screened positive for. Our doctors and midwifes need more education on the tests they’re providing. They need counseling on how to deliver these results. Because surely telling someone something so serious over the phone isn’t the only option. Theres gotta be a better way, I know there can be a better way.

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For more information on genetic testing and down syndrome visit these sites:

www.downsyndromeprenataltesting.com
www.floridahealth.gov
www.lettercase.org/prenataltesting/
www.ndss.org