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Ritscher-Schinzel Syndrome- The Story of Aurora

Ritscher-Schinzel Syndrome- The Story of Aurora

There is nothing quite like becoming pregnant and knowing there is a chance it may come to a crashing end. An end due to choice. A choice that you never want to make, but it’s a choice nonetheless. It’s the choice to set the one you love most free from a broken body and mind. A choice to protect them from any suffering and hurt.

Our story began nearly 5 years before saying goodbye to our second daughter. This part of our story would be a glimpse into what would happen in our future. It would be a preparation for great suffering and hurt in our lives.

I was 21 years old and 20 weeks pregnant with my first baby. A daughter that we had already named and loved. My husband and I entered our anatomy scan without a worry in the world. We were excited to peer into our baby’s world once again and see how she had grown. I remember our sonographer becoming quiet and focused, remeasuring her bones and looking over her brain for an extended time.

A one hour scan turned into two hours. After the scan we were told to wait while she talked to the radiologist. They both returned and we were told something was wrong with our baby. I pleaded for answers but our OBGYN would have to be the one to share the news.

I recall the heat overcoming my body and the tears streaming down my face as we walked across the hospital to the pregnancy clinic. We were met by a doctor who had informed us that certain features led them to believe our baby had T-21, or Down syndrome.

I couldn’t believe this. Life as we knew it had changed right before our eyes. I spent that night grappling with the information and tried to imagine what our world would look like now. We had hit one of those forks in life where your path would never be the same and you can never go back.

The next morning I headed to my counseling office to speak about the status of my baby and the events that transpired the day before. It was then that I received a phone call from the hospital. My doctor told me they had looked deeper into the ultrasounds and it looked like our baby had severe neural tube defects and heart abnormalities. The baby would most likely not be okay and that’s all the information I was left with.

An appointment was made for early the following week at a bigger medical center with specialists. I spent that weekend looking up what a life threatening neural tube defect was and I came across anencephaly.

My baby had this or something similar. Her brain hadn’t fully developed and there was no overcoming this. We would have to terminate. I had just felt my baby move for the first time a week prior and I was preparing to say goodbye to this little person I already loved so deeply.

I remember looking up a labor and delivery termination for a family that had a baby with anencephaly. That is what I wanted. I wanted to meet my daughter and say goodbye if this is what would happen.

I spent the next few days numb and entirely shattered. I was so young and would have to say goodbye to my first child, my precious daughter.

We drove three hours to the medical center and checked in for our appointments. We first were brought into a room with the genetic counselor. She was fairly pessimistic about the status of our baby and termination was referenced several times.

We were then led into a room with a perinatologist. A scan and amniocentesis were preformed. The doctor saw plenty of abnormalities with our baby, but didn’t see the anencephaly or fatal heart defects that my doctors witnessed. He believed our baby had Down syndrome or another form of a chromosomal trisomy.

We waited a week for the lab to deliver the results of the genetic testing. No trisomies or other chromosomal conditions were found. I wouldn’t be terminating. I would be having a baby, but the fear wouldn’t end there. We were told she may have something, but she also may not. After everything we had been through, everything we had seen I knew this was just the beginning.

My sweet daughter, Blake, was born 4 months later after a relatively uncomplicated pregnancy. As soon as she was placed on my chest I noticed that my beautiful baby had several abnormal physical features I had not seen in other babies. It was the next day that we were met by a physician and it was confirmed that our baby had some type of genetic disease.

It would take 2 years for us to have an answer. 2 years filled with ultrasounds, CT scans, MRI’s, blood tests, appointments, developmental tracking, various genetic tests and finally Whole Exome Sequencing to yield an answer of Ritscher Schinzel Syndome.

Ritscher Schinzel is an extremely rare disease that effected the brain, heart, skull and various other parts of the body. The number of people with this syndrome was less than 50 worldwide. Our daughter’s condition was more serious than we had known with a 30 percent mortality rate in the first year of life for most babies.

As thankful as we were to have answer about our daughter’s condition and a newfound understanding of her developmental delays, on that day we learned that we were carriers of this rare disease. Having another baby would be complicated… there would be a 25 percent chance of recurrence with each pregnancy. We couldn’t take on the struggle of another special needs baby and would mean saying goodbye to our future baby if we had another affected pregnancy.

Being told I was genetically incompatible with my spouse was something I never expected. It felt as our future family, the family and life we dreamt of had been stolen from us.

It would be another 2 years for us to decide to get pregnant again. We wanted to expand our family and we wanted to give our daughter a sibling. I desired a baby so badly and felt confident in the 75 percent chance of things going right. The odds seemed to be in our favor. We had our first preconception appointment and were given a timeline on genetic testing and possible termination. It was a lot to take in. Things would take longer than I expected and I wasn’t ready to hear that. I wasn’t ready to face possible termination in the second trimester.

We followed up with local fertility clinics and looked into the possibility of IVF. In the end, we couldn’t take that route as price far exceeded what we could manage. The only way for us to have one more baby would be to try naturally and risk the possibility of things going wrong.

It was 6 months later that we started trying again. It would take 4 months for me to get that positive test. I was over the moon to finally be pregnant. This is what I had wanted since my daughter’s first birthday. But although I was pregnant, I didn’t know if I was actually having a baby and giving my daughter a sibling.

I wondered and hoped everyday whether the right sperm had met the right egg on the day we conceived. Everyday, despite knowing the pregnancy may not end happily, I fell deeper in love with this little life inside of me.

I would wait until 12 weeks for our first nuchal translucency scan. I was a wreck going into this scan because this ultrasound was likely to give us an answer on our baby’s condition. I knew what I was looking for…a black sac of fluid on the back of my babies neck.

I looked at the measurements, but it wasn’t obvious at at all whether they were affected or not. I didn’t know what this meant. The genetic counselor let us know that the babies NT measurement was on the very low side of abnormal. This could be because of the baby being affected, or it might just be a fluke. More uncertainty.

The next week, at 13 weeks pregnant, we returned for a CVS test to get a genetic answer as we were advised to do by our healthcare team. After two attempts it was clear that we wouldn’t be getting enough genetic material to test the baby.

An amniocentesis at 16 weeks would be our next option. We went from receiving answers at 15 weeks to not having them until at least 20.

Over the next few weeks we had multiple anatomy scans. The scans looked a lot better than my first child’s. A large head and short arms/legs were the only things that concerned our doctors. It seemed like a step in the right direction, but I couldn’t get the abnormal NT scan, from weeks prior, out of my thoughts.

It was in this time that we found out the gender of our baby. A sweet girl and little sister to my daughter. I was excited to have another girl, but I didn’t know how much time I had left with her. Whether it would be forever or if the time would be limited by the ultrasound findings or genetic testing.

I made a point to enjoy every moment of this pregnancy; the growth of my belly, every sweet kick and jab, just everyday of carrying this life inside of me. As anxious as I was for answers, there was a part of me that wanted it to take longer because I didn’t want my time with her to ever end.

On 17 weeks I finally had a successful amniocentesis after a failed attempt the week prior. It would be a 3-4 week wait for answers from the lab.

At 18 weeks we had another anatomy scan. I waited to be told about the same problems my firstborn had. A normal anatomy scan; the only measurements outside of normal range were her skull and long bones. As good as this all sounded and as much hope I wanted to hold onto, I knew it was likely my time with her was running out.

It was on the day I had hit 20 weeks that I received the call I had been awaiting. My genetic counselor asked how I was and I told her it depended on what she was about to tell me. “I’m so sorry, but your baby has the same exact mutations as Blake.” My world shattered.

I wouldn’t be able to escape termination and heartache, after all. We had given our baby the wrong egg and the wrong sperm. I had knowingly walked into this situation, but this didn’t ease any of the pain. In fact, I feel as if I loved her more because she was just like her big sister. I felt like I knew her and could imagine what she would be like.

I spent the entire week wishing time would just slowdown or stop completely. My pregnancy, despite being full of stress, was the happiest I had been in a very long time. The baby inside of me was so wanted, planned for, and loved. We took maternity photos with tear-filled, stinging eyes and sung to her through choking sobs.

I took the time to feel every last kick and wiggle of my strong little daughter. We named our sweet girl, Aurora. Aurora, for the colorful dancing lights of the northern sky and because she would be born a sleeping beauty.

Midway through the following week we walked into the hospital knowing our happiness would be brought to an abrupt end. As much as I didn’t want to say goodbye, I knew I couldn’t bring her into the world to possibly suffer medically and die in her infancy.

I couldn’t be the mom both of my girls needed if I chose to continue my pregnancy; I would be stretched too thin and I wouldn’t be enough. I needed to set her soul free.. free from a body and mind that would limit her and jail her spirit. I was going to do things the way I was planning with Blake when it was believed she had anencephaly. The way I was prepared to handle things 5 years ago.

I choked down a pill to help release my placenta, knowing that this would be the first step of this process. There would be no going back. My husband and I held onto my belly and cried. We played a song for her and felt her last kicks.

We were ushered into the room that I had all of my previous procedures. This is where it all ends. This is where they would inject into her cord and stop her sweet little heart. Where she would pass peacefully inside of her mama, only knowing warmth and love in her short life. I watched Aurora on the ultrasound one last time. I blew her a kiss and told her I loved her, that I didn’t regret her and I was so sorry.

I turned to my husband, covered my ear to not hear, and stared deep into his teary eyes. I imagined Aurora’s beautiful soul leaving her body, flying up over the evergreen trees, past the moon, stars ,and into the universe. Choosing to set her free was the most painful moment of my life. It went against every single instinct in my body to say goodbye.

The doctor started rubbing my leg and that’s when I knew it was all over. My baby was gone. They gave their condolences and shuffled out of the room.

We would head upstairs to labor and delivery to bring Aurora’s body earthside. As we walked it was obvious that my belly no longer felt the same carrying my lifeless daughter as it did walking into the hospital an hour prior.

We were met with by a kind hearted team that would induce labor. I would be meeting my daughter shortly; in such a similar setting, but vastly different circumstances than my first experience with birth.

It only took 9 hours for my body to be ready to birth Aurora. It was in the middle of the night that my labor became unbearable and I knew she was almost here. I felt her crown and leave my body. I was terrified to look but the nurses assured me that she was born in her sac and was perfect. They wrapped up my little girl and brought her over to me. I was astonished.

She really was perfect. She looked as I hoped she would.. she looked just like her sister. She was a carbon copy of Blake. The familial resemblance was like nothing I had ever seen and due to the symptoms of the syndrome they shared they looked like the same person.

There was no sadness during the time we spent with our daughter. We were enamored with the details of her beautiful face, her long fingers and unique toes. We studied her face and features for hours. I kissed her from head to toe. We talked to her about how much we loved her and about her big sister. We took so many photos of her. I slept with her in my arms and held her the entire time we were with her.

As much as I wanted to stay with her forever, after about 8 hours it was time to give her back. No time would ever be enough time. The longer I waited the harder it would be. We wrapped her in the blanket I bought for her, we kissed our last kisses, said our last I love you’s and goodbyes, and we gave her back to the nurse.

Leaving without Aurora, with an empty womb and empty arms, was another one the hardest moments of my life. The emptiness was immense and all I wanted was her. In the end I know we did the right thing by setting her free. Although I am physically empty, I carry a heart that is full of love for her. I will always have two daughters. One on earth and one who dances among the stars.

Her soul didn’t die. I am reminded of Aurora’s spirit in the everyday beauty of this world. I see her in the bright moon, the sparkling stars, the colorful rainbows, the shining sun, and the green forests. In everything beautiful I see her.

This story is an anonymous submission from the wonderfully brave Mama of Blake and Aurora.

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