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Schinzel-Giedion Syndrome Foundation

Schinzel-Giedion Syndrome Foundation

Providing support for families caring for a child with Schinzel-Giedion Syndrome.

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Emma’s Story

Emma’s Story

April 2020

On February the 2nd 2018 we became parents for the very first time. A beautiful little girl with a lot of hair. But the story of Emma begins before she was born.

Kasper (Emma’s dad) and I have been together since the summer of 2014. In the summer of 2017 we were at that stage of our relationship where we felt ready to grow our family. I quickly got pregnant and we were so excited. All the checks and ultrasounds done in the first 20 weeks of the pregnancy went well. Everything was fine and we found out we were expecting a girl. We already had a name: Emma.

Around week 23 of the pregnancy things changed. I remember waking up one morning feeling as if my baby pump had doubled in size. But I was so proud of being pregnant I didn’t think any more of it. Shortly after this I went for a routine check with my midwife, and she told me that she felt I had a little too much amniotic fluid, but that I would just have to go about as normal. I got worried and arranged for an extra ultrasound the next day. This all spiraled into 3 extra ultrasounds during the following days, the last of which was with experts in the biggest hospital in Denmark. They told us that our baby had something called hydronephrosis (enlargement of the renal pelvis) but they felt confident it was nothing serious. They did want to keep an eye on it though, so we had scan’s every 2 weeks until Emma was born.

On February 2nd, 2018 she was here! Born 2 ½ weeks early, but such a beautiful girl with a lot of hair. However, the birth was hard on Emma. Her heartbeat dropped before she came out, and when she did come out, she did not breathe and needed oxygen right away. There were so many doctors and nurses in the delivery room when she was placed in my arms. I was only able to hold her for 20 seconds before she turned greyish and needed more oxygen. They took her away from the delivery room to the neonatal section to put her on CPAP to help her breathe. The first time we clearly saw our little girl, she was covered in tubes and the nurses and doctors were working so hard to keep her safe and well. At that time, we were not sure if she would survive.

We were hospitalized for the first 2 weeks after Emma was born. Emma was not able to breathe on her own. She could not breastfeed but was able to take small amounts by bottle and got the rest of her daily feed by nasal tube. The doctors quickly began to wonder if there was something else. They wanted to test her genes, because of her facial features, all of her hair, her kidney issues, low-set ears, breathing problems and her difficulty eating. We agreed to the tests but were so scared. During the two weeks we were hospitalized Emma went through many tests and examinations: daily blood samples, ultrasounds of her heart, brain, lungs, kidneys and liver. She had an MRI scan and even her eyes were examined. We were first time parents, and I don’t think we even realized what we all went through until many months later.

We told one of Emma’s doctors how scared we were for the results of the genetic test. He told us to take a deep breath and said, “sometimes when doctors hear the sound of hooves, they think it’s zebras, but most of the time it is horses.” However, we would soon learn it was something else.

During the two weeks in the hospital Emma fought to get off the CPAP. She made feeding progress and was able to take a bit more from the bottle, though she needed to eat every three hours to make sure she got enough calories to gain weight. She was getting my milk, and so I would pump every three hours hour too – night and day. The hospital agreed to let us all go home but to return 2-3 times per week to measure Emma’s weight gain. We were discharged to finally go home and start the family life we had hoped and planned for.

The first test of Emma’s genes, the micro-array, came back without any findings on the chromosomes and we were surprised to say the least, but also very happy. I think that we were in denial for a long time. We were convinced she was premature and that she would catch up as she got older.

Emma got off the nasal tube feeds and was taking her entire feed by bottle, although every meal took her 1 hour to eat and she was still eating every third hour. She did not gain weight fast enough and the doctors wanted to put the nasal tube back in. We were so determined to teach her to eat on her own, our entire day was centered around getting Emma to take the full amount.

All the examinations and tests had made Emma so uncomfortable around anybody else but her parents. She did not like to cuddle with anybody, except her mom and dad. Cuddling on us was her favorite activity and Emma and I spent hours and hours on our couch snuggling. When she had difficulty sleeping, I would place her on my shoulder, and she would almost immediately fall asleep.

When Emma was 3 months, she started to have episodes. She would stretch her arms, turn her head, her eyes would twitch and her upper lip would turn slightly blue. This would last around 20 seconds. We talked to one of the nurses who suggested it could be epilepsy. Once again, we were back to the pediatric section, and Emma had an EEG done. It showed epileptic activity in her brain and we were told that Emma would need to start medication. The doctors still suspected that Emma could have some sort of genetic disorder and they wanted to test for epilepsy syndromes.

On May 1st, 2018 we got the result. Something had been found and the doctors wanted us to give a blood sample the next day to see if we had the same mutation. They did not tell us more than that. We waited until May 15th, when we finally got the result. Emma was diagnosed with Schinzel-Giedion Syndrome and was now part of a group of less than 100 kids worldwide. She was not a horse, or a zebra – she is a unicorn.

Emma will never be able to talk, walk and run. She will always struggle with epilepsy, and her narrow airway makes her very vulnerable to colds and flus, which could be potentially fatal to her. She has hydronephrosis and has already had many urinary infections. Also, with the diagnosis came the toughest message we’d ever have to process, knowing that your child is not likely to live past the age of 2. No one should ever have to go through that.

Since Schinzel-Giedion Syndrome is caused by a genetic mutation, it is simply bad luck it happened to us and to Emma. The hardest part for us has been holding onto hope even though we know that there is no cure. We have accepted it and we focus on giving Emma quality of life her way. I think we kiss her 1000 times per day.

Until Emma was 4 months old, she managed to take all her daily feed by bottle. It was hard for her and it took her so long, but she did it. But then she started to throw up daily, sometimes 4-5 times a day. She could not keep the very small amount of milk in her, and she started to lose weight. Seeing pictures from that time she looks like a little baby bird. So tiny and with big eyes. After many discussions with Emma’s doctors, we decided to give Emma a G-tube, and in September 2018 Emma went to surgery to have the G-tube put in. It was such a hard realization that Emma would not be able to eat on her own, but it is at the same time one of the best decisions we have made. It has given Emma so much more quality of life, now that not everything is focused on eating. We practice eating daily and she loves to taste different smoothies and Nutella. That is her favorite!

Despite Emma’s challenges, she has amazing willpower. She loves to be active and she loves to improve her physical skills. At 5 months old she started physical therapy. We have the most amazing therapist coming to our house 2 times a week and the rest of the days we train on our own and Emma loves it. We do simple gymnastics and stretching exercises. Emma has already proven the diagnosis wrong. She has some head control and can sit in a couch for a short amount of time and recently we have started to put Emma in a standing trainer. This allows her to experience the world from a whole new viewpoint and her whole face lights up when she stands.

Having a child with special needs has been eye opening for us. The diagnosis has put everything in our lives into perspective: some problems now seem so small.
Emma is our little unicorn. We are so proud of her, and the things she has overcome already. She loves to cuddle, to take bubble baths, the wind in her hair and Nutella, and the simplicity in that is beautiful.

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Sadie’s Story

Sadie’s Story

March 2020

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.

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Avery Jo’s Story

Avery Jo’s Story

February 2020

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.

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Scarlet’s Story

Scarlet’s Story

January 2020

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.

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SGS is rare, but you are not alone. Get in touch today and come and join our family!

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