Sadie is the baby of our family. All of us, Mom, Dad and two sisters, were so excited and patiently waited for her arrival. During the 5 months prenatal ultrasound we received news that would forever change our lives. Sadie’s ultrasound showed multiple abnormalities. One of the abnormalities discovered was that Sadie had a rare disorder called Agenesis of corpus callosum. This meant that Sadie’s brain had either a partial or complete absence of an area of the brain that connects the two cerebral hemispheres. Another abnormality was what looked like bilateral hydronephrosis, her kidneys were enlarged due to their poor filtration of fluid.

We immediately met with a doctor after the ultrasound. This was the first experience of meeting with a Doctor who lacked compassion. We were told that if Sadie made it to term, she would most likely be born with multiple medical conditions and they were unsure of what the results of the medical conditions would mean for her life. At this time, I was a week before the legal time limit for a “legal abortion”, without compassion, the doctor asked Sadie’s dad and I to make a decision. Neither of us needed time to make a decision. Fortunately, my husband and I have always been on the same page. We decided to continue with the pregnancy and our life has been nothing but a wild and beautiful ride since then!

Every day became a challenge, even before Sadie was born. I delivered Sadie on May 4th 2013, at 37 weeks and 1 day. As a precaution for the many possibilities that could go wrong, the large, bright Operating Room held two teams. A team ready to help Sadie and one for me. Everyone was prepared for the worse. Sadie’s delivery was different than my two older daughters’ deliveries. She was not placed in my arms as soon as she born and I was not able to spend any time with her. The moment Sadie made her entrance she was rushed to the NICU. For the first time, my family did not get to stay with one another, we were forced in different directions. Divided and scared. Sadie’s sisters were separated from one another. Sophia, 17 months old at the time, was with Aunt Michele and Dina, who was 3 years old, was on the other side of the wall with Grandma. Only getting to see her new baby sister as she passed by on the way to the NICU. My husband had to leave my side to be with Sadie. All of us pulled in different directions when all we wanted was to be together.

The next three months were incredibly difficult. We didn’t get to take Sadie, our new baby girl home. We lived “the NICU life”. During Sadie’s NICU stay, she had multiple diagnostic tests performed, two surgical procedures, and was transferred to a pediatric hospital. After 3 months, all the different types of procedures Sadie had to endure, she was still discharged without a complete diagnosis. The only advice given to us was to take her home and love her because most likely she would not live much longer. At that point, what we knew was that Sadie had severe bilateral hydronephrosis, silent aspiration, which resulted in the need for a G-Tube, she was missing one set of ribs, she had bilateral radial head dislocation, a mental delay, and brain abnormalities. Even with all of those diagnosis’, there were still so many questions left unanswered.

From the beginning, like any parents, we wanted what was best for Sadie. We knew that we needed more answers to help her as much as possible. We flew from our hometown, San Diego, CA, all the way to the Mayo Clinic in Minnesota, with the intention of getting her diagnosed. This meant more diagnostic tests. While there Sadie had her 3rd surgery to remove a tumor found on her spine. We also had a trip to the ER after Sadie had her first grand mal seizure. This is where we discovered Sadie also suffers from epilepsy. After a few weeks, we received news that Sadie tested positive for Schinzel Giedion Syndrome, the 56th person in the world to ever be diagnosed. The first year of Sadie’s life was the absolute hardest. We spent more time in clinics and hospitals than we spent at home. Which meant, even more time that our family was separated and not able to spend time as a family unit that we are.

Sadie has broken many barriers that the doctors and medical books created for her. She is able to vocalize and communicate in her own way. She loves to play with her sisters. She loves music and being outdoors enjoying natures beauty. One of her favorite places to be is in her Daddy’s arms, something she does every evening. When we tell her we love her, she replies I LOVE YOU back with a sigh. She gives the best hugs, love and peace radiates from her like no other person I know. Sadie will be turning 7 in May! This journey has had its share of difficulties. We have learned and grown as a family. I am so incredibly blessed and honored to be called Sadie’s Mommy.

Share this article and raise awareness of Schinzel-Giedion Syndrome.

Saturday, June 8, 2013 was a big day for the Andersen family. We were all so excited about the birth of our new baby! At 11:35pm, I gave birth to a beautiful baby girl. I waited for the cry, it didn’t come at first, but eventually she let out a quiet grunt. The nurses cleaned her up, then let me hold her for a minute before telling me that she needed to go to the NICU to be monitored. My husband, Jade, left with the baby and luckily, my mom and sisters were in the delivery room to help calm my jitters. After checking my vitals, I was allowed to go see my baby. Avery was hooked up to many machines and there was a big mask on her face. It was soon apparent that she would be staying in the NICU much longer than first expected.

The next morning, one of the neonatal doctors sat my husband and I down to tell us that our newly born daughter had signs of Down Syndrome. They explained to us that she had low set ears, a bilateral simian crease, overlapping toes, and a different shape to her eyes which were all consistent with Down Syndrome babies. It was a shock, but we felt that it was a challenge we were able to take on. One day later we were told that she did not have Down Syndrome. During our daughter’s two weeks in the NICU, she had many ultrasounds on her kidneys, brain, heart, and lungs. She also had X-rays, an MRI, a VCUG, and hearing tests. The microarray for deletions and additions to her chromosomes came back normal. Everyone was confused and as they searched for answers they continued to test Avery, trying to identify what she had been born with.

While all this was going on, Avery was able to come off of the CPAP machine and fought hard to transition to a low flow oxygen cannula. We spent a lot of time with an amazing occupational therapist trying to get Avery to eat. We were finally able to get her to meet her nutritional needs with a Pigeon Nipple which was created and used for babies born with a cleft palate. We left the hospital two weeks after Avery’s birth with no answers to a diagnosis, but a long list of follow up appointments. We would soon learn, through her many tests, of Avery’s diagnoses of urinary reflux, hydronephrosis, hydrocephalus, brain anomalies (including a thin corpus callosum, no septum pellucidum, and large ventricles), an ASD, a PDA, hearing loss, and respiratory distress.

We were so excited to be home, even if it meant that we had to carry around an oxygen tank and a heart monitor. Avery was such a sweet baby and loved snuggling with her mom. It took a while for her to adjust to our loud home with a 3 and 5 year old, but she seemed to get used to it and fell in love with her older siblings. When Avery was one month old, we started having occupational therapy services once a week and home nursing services every other week. We mainly worked on gaining weight and eating. Eating was not easy for her, we spent anywhere from 8 to 12 hours a day getting her to eat 12 ounces of pumped breast milk a day. It was hard and stressful for her and the person feeding her.

In July, we met with a geneticist and he said he was not certain of her diagnosis and wanted to give her some time to grow up. He did mention that she showed signs of a very rare syndrome called Schinzel-Giedion Syndrome, but that it was in no way a definite diagnosis. I googled Schinzel-Giedion Syndrome (SGS). At that time, there was very limited information on the internet about SGS. There was no day to day information and no idea of what living with a diagnosed child would be like. The information that I did read told me that my child would not live long and that she would be sickly throughout her life.

In August, we noticed that Avery would tense up and stretch her arms wide, holding them out, and not breathe for short periods of time. We were sent to spend a few days in the Children’s Hospital and had an EEG conducted. Avery was having seizures. We spent the rest of her life giving her seizure medication to keep them at a minimum.

Soon after her seizure hospital stay, Avery was diagnosed with urinary reflux. With all that was going on, Avery was starting to get kidney infections. We spent a couple days every month in the hospital giving her antibiotics and IV fluids to help her get through the bad days of her infections. We grew to love the staff at the hospital. We teased that Avery would come in just to see her friends. Nurses would hug me as we entered and then sit and rub Avery’s head for hours cooing at her.

In the spring of 2014, Avery got her first scary respiratory infection. She had parainfluenza. She couldn’t eat anything for fear that she would aspirate. The doctors talked with us about options, but they told us that it was probably a good idea to place a feeding tube in her nose for the next little bit to help get her strong enough to go home. I had been pumping every three hours to give Avery my breast milk, but unfortunately I was not able to produce enough for her. Formula is much harder on the lungs if aspirated and so we decided to give the feeding tube a try. This was the best decision we ever made. Our daughter started to really have a personality. She started smiling, she started tracking us, she was awake more often, and she just seemed happier. She had been using all of her energy to eat. We took her home with the feeding tube and a few months later, we placed a G-tube.

At nine months old, Avery was diagnosed with Schinzel-Giedion Syndrome, one of less than 100 children ever in the world. Only a few SGS children live past the age of two. We met with many amazing people to create a Physician’s Order for Life Sustaining Treatment (POLST) for our daughter. No parent should have to do this, but at the same time, it helped us decide right then and there that we were going to allow our little girl to live a wonderful life, no matter how short it was.

During her short life, she was completely non-verbal, non-mobile, and was under the care of eleven specialists. Avery had many hospitalizations and surgeries, but despite it all, she was our happy baby. She communicated her happiness with big smiles and eye rolls, which were our favorite! She enjoyed being around her family and friends and her favorite sound was laughter. We tried to live each day as if it were a gift, because it truly was. Avery learned to use a button to communicate at school, she could tell her siblings yes or no by touching their hand, and she mastered waving while in preschool with her awesome technicians and nurse. Avery was the reason her mom got to go on two helicopter rides, always had slobber on her shoulder, became unphased by getting pooped on, learned many medical terms, and found out that no matter how tired you are, a sleepless night holding your wide-awake child is one of the best memories you will ever have.

Avery had a seizure that caused her to aspirate and go into cardiac arrest on her first day of kindergarten on August 21, 2018. The loving hands of her nurse, the school staff, and the ambulance crew were able to get Avery’s heart pumping again. By the time I got to her school, things looked great and we joked that she just wanted to get out of her first day of school. However, ten minutes later her heart stopped, after a few more minutes of CPR, I asked the emergency workers to stop. We brought my older children into the ambulance to say goodbye. It was then, when my kids were telling her how much they loved her that her heart started pumping again. We were life flighted to the Children’s Hospital where we spent two long days making very hard decisions. We took Avery home on August 23 on hospice care. She gave us three wonderful days filled with tears, smiles, cuddling, memories, family, and friends. She passed away on Sunday, August 26 surrounded by so much love. Avery was loved by many. She was a rare gift. We are so lucky to call her ours.

Share this article and raise awareness of Schinzel-Giedion Syndrome.

Our journey began 20 weeks into my pregnancy. Abnormalities were noted from the first ultrasound and our baby girl, whom we named Scarlet, was watched closely from that point on for the duration of her life. After 24 hours of labor Scarlet was born on September 2nd, 2009 in Minnesota, USA. When she arrived, she made no sound. We were given a moment to see her and take a picture before she was rushed away to the neonatal intensive care unit.

The next few months of Scarlet’s life were full of fear and confusion. Symptom after symptom began to appear including kidney disease, respiratory problems, feeding concerns and aspiration, seizures, and a host of physical abnormalities. No physician at any hospital had any idea what she had and the list of specialists grew rapidly. It continued this way for 3 ½ years with many health crises nearly ending her life, but no answers other than the hypothesis that her condition was likely neurodegenerative and terminal. Finally, after a lucky guess by a geneticist at the Mayo Clinic, we got the diagnosis of Schinzel-Giedion syndrome, and were given the devastating life expectancy of 2 ½ years.

By the time we received a diagnosis, we had over a dozen specialists, homecare nursing for 16 hours per day, and 4 hospitals, which we traveled between. Scarlet was deaf and severely visually impaired, she did not produce tears which caused corneal damage, suffered from seizures, dystonia, dysautonomia, respiratory distress, kidney disease, hypertonia, brittle bones, and no ability to move her own body except for stretching and very small movements. She was wheelchair bound and completely dependent for all of her cares. By that age she had already had more surgeries than I can count ranging in severity. They included an intracranial shunt placement, port-a-cath, g-tube, ureter shunt, vesicostomy, pylostomy, pin placement in one foot and serial casting, sedated dental exams, and hernia repairs.

At home we created a mini intensive care unit for Scarlet in our basement. She had all of the necessary equipment to sustain her along with nurses to support her. She regularly used a bipap, oxygen, suction, cough assist, an oximeter monitor, vest machine, blood pressure machine, and an arsenal of medications. As she grew and her health concerns continued to escalate, the list of daily procedures and medical interventions also grew. Chronic UTI’s gave way to catheterization multiple times per day. An inability to clear secretions from her lungs meant respiratory treatments 4 times per day. Hypertonia, a curving spine, and slowly displacing hips required daily physical therapy, stander time, a specialized wheelchair and various hand and feet orthotics.

As a family our biggest concern, other than Scarlet’s health, was the emotional wellbeing of us as a whole and as individuals. Living life within the confines of Scarlet’s very rigorous schedule was grueling and terrifying. Fear often dictated our decisions and our ability to participate in the world. Finding balance was difficult, but over time we grew to accept our life, -though it was challenging, we were happy. Scarlet passed away from a virus and a weakened immune system after a year and a half of receiving hospice care. She was 7 ½ years old. We were devastated to lose her even though we had always known the day would come.

During her life she fought like a warrior and crushed the odds placed against her. We do not take for granted how lucky we were to have had 7 ½ years. We cherish our memories of her magical smiles, her love for all lights that crossed her path, her feisty spirit, her hugs and cuddles, her flare for being snazzy, her flashy nails, and endless pairs of shoes. I can’t imagine our lives without having had her in it. Scarlet changed all of us for the better. Perhaps the biggest lessons we learned came from facing Scarlet’s mortality. Unexpectedly, we discovered how to live each day, not like it is our last, but like we will all live forever. Because the moments that make life worth living are not in the special occasions but in the everyday moments that are special.

Share this article and raise awareness of Schinzel-Giedion Syndrome.