Jade

It all started with a dream...

December 23rd, 2007, I had a dream that I was pregnant. The next day, it was constantly in the back of my mind. My now husband Jeff and I went to a Christmas Eve gathering at my in-law’s house and the whole time I was thinking that I wanted to go get a pregnancy test, just to see. I really didn’t think I could be pregnant, but there was a chance. After the get together we picked up a pregnancy test and headed home. I was so nervous to take the test. I figured it would probably be negative anyways. When the second faint lined appeared, I was in absolute shock!

Jeff and I cried tears of joy! We were going to be parents! I had dreamed of this day my whole life! I always wanted to have a child of my own, to nurture and care for with my entire heart and soul and now it was finally happening! The next morning on Christmas day, it snowed for the first time in forever. A gift I believed to be just for me and my baby. I took it as a sign that everything in my life was falling into place.

At 12 weeks pregnant I went in for an ultrasound. I was so excited to see my baby. Something seemed off though. The technician was very quiet, and the environment was kind of solemn. I tried not to think anything of it and just enjoyed seeing my sweet baby wiggle on the screen. A few days later on Valentine’s Day I got a call from my midwife. She wanted to talk in person about my ultrasound. I knew that couldn’t be a good sign. My mind raced back to how quiet the technician was and I began to try to piece together what she could possibly be wanting to talk to me in person for. I could have never expected what came next.

“Something is wrong with the baby.”

I felt like I had just been punched in the stomach. I held my breath as the words my midwife was speaking just trailed off into the distance. I couldn’t believe what I was hearing! I was so young and in perfect health, how could this be happening to me? (Boy was I naive back then!)

I was frozen with fear as my midwife explained that my baby had a cystic hygroma on the back of her neck, which was a sign of a potential genetic disorder. There was also a 2-vessel umbilical cord, which was another “tell tale sign” that this wasn’t a “normal pregnancy”.

I was sent to a perinatologist (a high-risk specialist) where I was given nothing but grim news. The doctor wasn’t quite sure what was wrong without conducting further invasive testing, but he was 100% positive my baby wasn’t going to be born. He told me I had until 22 weeks before I would find that my child had died in utero. A fate that no expecting mother can even begin to fathom. Every week, every day, every minute, every second would be a ticking time bomb to the unforgiving fate of losing my baby that I already loved more than words could express.

The specialist made assumptions about what the signs were pointing to. It could be Down syndrome, Noonan Syndrome or Turner syndrome and that most babies with that kind of diagnosis only have a 2% chance of survival, but that my child’s case was so severe, he believed the survival rate to be 0. He said I’d be better off terminating my pregnancy because if by some miraculous chance we made it to birth, my child would be severely physically and mentally disabled. I felt like my heart was torn out of my chest that day. I don’t think I had ever suffered so much in my entire life. Now we were faced with the question of what we should do?

Jeff and I went to our family in tears destroyed by this devastating news, not knowing where to turn or what to do. Up until this day I had been pro-choice. I used to think that people were selfish to keep their children if they weren’t going to have any “quality of life”. I am so ashamed to admit that I use to think that way. I’ve learned so much since then about the true value in all lives.

As we were debating our next steps, I had another dream. It was so vivid I will never ever forget it. I was getting an ultrasound done and the doctor told me there was no heartbeat. I was devastated and started crying, then I saw a flicker of light on the screen and I shouted to the doctor, “Wait, there is still a heartbeat! It’s still beating! My baby is alive!”

I woke up that morning knowing termination would never be an option for us and we would not be doing the amniocentesis that could cause a miscarriage. If my sweet baby was fighting strong, I would be fighting strong too. I knew that I would love my child no matter the outcome.

We found out we were having a girl at our subsequent anatomy scan. Something in my heart had told me she was going to be a girl. I was so happy, but also sad because I didn’t know if all of the dreams I had for her would ever get to happen. Dreams of tutus and bows, playing with makeup, wearing matching mother daughter outfits, being by her side during the good times and the bad. All those dreams seemed so distant during that time of uncertainty.

The next few months went by terribly slow. I was in agony over the unknown of what we were facing. It was a very dark, depressing and traumatic time for me. Every doctor’s appointment came with more bad news and gloom.

“Her arm bone is shorter than it should be, that is a sign of Down syndrome”.

“Her kidneys have duplicating collecting systems”.

“She may have a bicuspid heart valve”.

This is what I endured during entire pregnancy. Multiple appointments, with a lot of guesswork and anxiety. It felt like we were sailing blindly into the unknown. During this dark time, we turned to our church, family and friends who guided us to pray and give this situation up to God. We did not understand that we were not in control. After a long internal battle filled with emotional turmoil, we gave our hearts to God and put her life in His hands. 22 weeks came and went, and I finally was able to let go of the control I was so desperately trying to have of the situation. I came to a place where I asked God for peace. He provided me with that peace and so much more. He provided us with a miracle.

After months of heartache, fear and uncertainty our sweet daughter Jade was born perfectly healthy at 39 weeks and 2 days. She was induced due to low amniotic fluid and because I was experiencing high blood pressure. Despite everything stacked against us, my labor was very pleasant. I had a whole team of doctors, nurses and med students ready, preparing for the worst. Yet at this point, I was expecting the best. After almost two days of labor, Jade was finally born. She was whisked away immediately, but by the look of pure joy on my husband’s face, I knew everything was okay. After so many months of anguish, I was finally able to breathe a sigh of relief. My miracle baby was here, and everything was going to be okay.

After Jade was born, we conducted genetic testing that confirmed she does have Turner Syndrome, like our specialists suspected. In reality, I had no idea what Turner Syndrome was. The idea of it scared me, because I didn’t understand it. Turner Syndrome is a genetic disorder that affects only girls. Girls with TS are missing all or part of one of their X chromosomes. 1 in 2,000 girls are affected by it, and there is only a 2% chance of survival for unborn girls with this condition. At that point in time I could not believe how scary words are that come with syndrome attached to them. There wasn’t a lot of positive information on Turner Syndrome back then. And the things I saw and read on Google were frightening and truly misrepresented what girls with TS are really like. Up until Jade’s diagnosis, I had never even knowingly met anyone with TS, because it is not always outwardly visible.

Turner Syndrome mainly affects the endocrine system, specifically growth. Girls with TS are generally under 5ft tall and need growth hormone replacement to help boost their growth. Other issues associated with Turner syndrome are heart and kidney defects, infertility, auto immune disorders, vision problems, diabetes, hearing loss and nonverbal learning disorders. In general TS girls have “typical” mental capacity and brain function but can have certain learning disabilities. TS is different for every girl. Some girls have minor cases and others more severe. Overall, these girls are doing the same things as other girls their age, just sometimes with some medical setbacks.

This is Jade. This is the girl doctors said shouldn’t live...

Jade is 11 years old now. If you look closely, she’ll have scraped knees and crazy wild tangled hair. Freckles dot her sun kissed nose from playing outside. Her deep blue eyes sparkle as she talks a mile a minute about the goings on in her life. She loves to ask a million questions a day blaming it on her inquisitive nature (her words not mine). Jade is special. She is overall one of the sweetest girls I’ve ever known and many people who meet her agree. People are drawn to her; they are touched by her kind and loving personality. You wouldn’t even be able to tell that she has a genetic disorder except for her height. She is 4ft 3in and hasn’t grown since August 2019. She currently fits in size 6-8-year-old clothing. She is one of the smallest kids in her middle school, but her height never stops her!

In March of this year we started Jade on growth hormone therapy. She has to get an injection every night until her growth plates close, which could take years. Despite that, Jade is doing great! She’s even doing her own shots now. She has such a positive outlook on all of this. She has more courage than I could ever possibly have. God knew what He was doing when he created her, and I know He has big dreams for her! Jade has a few other medical setbacks. She has some non-life-threatening heart and kidney defects; she has hyperthyroidism that she takes medication for daily. Doctors suspect that she has celiac disease, which we’re monitoring for the next year. She also has some vision issues, which we are treating with vision therapy.

Thinking back to when my doctor said Jade would have a severe physical and mental disability by the fluke chance she was born, he was so utterly and completely wrong. She has done everything early in her life. She crawled, walked, talked, earlier than the average child. She is highly intelligent. She speaks two languages. And she has the biggest heart of anyone I know. She notices the sad and broken hearted and will go to them to comfort them even if they are strangers. She smiles and talks to the elderly and to small children and makes everyone feel like a longtime friend. She doesn’t have the heart to harm even a single fly (she gets upset at me if I do). She is an avid reader and has a very advanced vocabulary. She dreams of being a zoologist or a graphic designer when she grows up. She is such a gift. This is what Turner Syndrome looks like.

I can’t believe what I would have missed out on had I listened to the doctor that was certain her life wasn’t worth living.

Despite how traumatic and difficult this experience was I don’t regret going through it. It changed my life for the better in so many ways. I gave my life to God. I opened my heart to be more empathetic and I learned that there is value in each and every single human being. And best of all, I got the most amazingly special girl out of it. She is my dream come true.

Last summer I started an Instagram page and a blog to document Jade’s journey so I could connect with other families going through a similar diagnosis. (You can find it here!) It has become my passion to help others going through what we’ve been through. I have found such an incredible community of support and encouragement through these social media platforms. I have gotten the chance to connect with expecting moms or moms of young children that are trying to navigate their TS diagnosis and have been able to encourage them with our story. Spreading hope and awareness has really become my calling in life. I have also been greatly encouraged by older TS patients that have blazed the trail before us. It has been such a blessing to be able to share our story and hopefully uplift others going through difficulties similar to ours.

I want to leave you with one last thing. If you’re reading this and you have been given a difficult diagnosis, don’t give up on the dreams you have for your little ones. It may be the most difficult thing you experience in your life, but don’t ever give up hope. You will grow from this, no matter the outcome. You and your baby are fighters. Don’t let yourself live with the doubt of what could have been.