July of 2019 was anxiously upon us. My husband Brandon and I were initially told that our due date was July 18, 2019. Soon after we received this due date, a 3-D ultrasound technician told us we were having a baby girl, who due to her current weight, would be here sometime between the 18th and 22nd of July 2019. Our baby girl came on the morning of July 22, 2019.

My pregnancy went typically well. I did not have any of the symptoms that can go along with pregnancy. The first sign of Schinzel-Giedion Syndrome was caught during my 20th week of pregnancy. An ultrasound showed that she had 2 choroid plexus cysts. My doctor felt that I needed to be referred to have a more advanced ultrasound done. The doctors who did the advanced ultrasound told me to not worry about the cysts, and that many babies during pregnancy have these. They also told me that the cysts should resolve by 32 weeks, and that the babies whose cysts do not resolve, do just fine after birth with them. I was worried about the cysts, but this doctor made me feel like they were not a big deal, so I didn’t think much more about them after this appointment.

The second finding was during my 33rd week of pregnancy. The ultrasound showed that her kidneys were larger than the typical size at this stage of pregnancy. I again was sent to have a more advanced ultrasound done. The doctor at this appointment told me that the baby was surrounded by plenty of amniotic fluid so that meant that her kidneys were functioning, but there may be some sort of flow issue that could be causing them to be larger than normal. The doctor said that I needed to give my blood to have the baby checked for a variety of syndromes, for example, Downs Syndrome and several of the Trisomies. This doctor also told me that after birth the baby would just need to have the kidneys followed by a specialist. Everyone acted as if nothing was a big deal and that I was “normal.” My family, friends, and doctors acted as if these findings were not as serious as they soon would turn out to be.

The last 10 months my family’s lives have been like going to an amusement park. For some, amusement parks are filled with tears, anxiety, anger, and fear, but for others they may experience joy, laughter, and happiness. This journey has been a roller coaster of emotions for my family. I have experienced rage, jealousy, anxiety, fear, stress, happiness, joy… some days are better than others. In an instant my world was flipped upside down the day we had our beautiful Ava.

Ava was coded when she was born. When I had Ava, we did not hear the expected baby cries. It felt like 15 minutes had passed until we heard that first squeak. Within just a short amount of time after her birth she was rushed to the NICU. This would mean that she would be transported an hour and 15 minutes away by ambulance. As I stayed in my local hospital, the doctors told me that she probably had something respiratory going on and probably would only need a few days in the NICU to recover.

On her second day of her life I was still at the local hospital, and I got a phone call from the director of the NICU. The neonatologist told me that Ava was having these short pauses of breathing and that they were going to have to run some tests to figure out the cause. I showed up to the NICU shortly after I had that phone call with the neonatologist. The neonatologist ordered Ava to be hooked up to an EEG machine. She was not showing any seizure movements at this time, but the EEG machine showed epileptic activity in the brain. To control her seizures, for her first three weeks of life, she was put into a medically induced coma.

The 5 week stay in the NICU was filled with her being put on oxygen support, poked and prodded, and surgery. Not only did she have seizure activity she also has kidney and heart issues. While in the NICU, Ava was diagnosed with, microcephaly, hydronephrosis, an atrial septal defect, grade 4/5 vesicoureteral reflux, hearing loss, and seizure activity. None of her tests came back with any information that would lead us to her diagnoses. The neonatologist had the geneticists come speak with us about her special features. The geneticists, at one point, told us that she looked similar to a baby with Downs Syndrome. The initial genetics results came back with a few gene changes, but they found that I also had the same gene changes, and since I did not have the same diagnoses, then these results were not considered the cause. She also had metabolic testing, a spinal tap done to test the spinal fluid, an MRI, and a CAT scan. The only findings were with the MRI. The MRI showed us that she had cysts in the brain and that she had a small corpus callosum, but the neurosurgeon did not think that these findings were the cause to her diagnoses.

While in the NICU Ava also had issues with feeding. She was not able to breast feed and would only take small amount from a bottle. It would take her hours to get her full amount of nutrition needed. The decision of putting her through a surgery to get a g-tube was extremely stressful and unsettling for us. I hated the g-tube at first. I hoped and prayed that we could get her to be able to get all her nutrition by mouth. We decided, to be able to go home, to have the g-tube surgery done.

Since we were discharged from the NICU Brandon, Ava, and I have been back to the hospital at least 35 times for admission stays and follow up appointments. 3 weeks out of the NICU, at 8 weeks old, was the first time she showed us her seizures with movements. Her seizures continued to change as the weeks went on.

In November, during one of our admission stays, we decided to pursue her genetic makeup even further. We were told that this would take up to 16 weeks for us to be able to get our results. The 3½ month wait was highly nerve wracking. In this time, we saw her do at least two other types of seizures from her usual tonic seizures. In December, Ava was diagnosed with having infantile spasms. (A hard to control seizure that is more detrimental to development.)

Also, in December one of the scariest moments in her life, was watching her survive RSV. RSV put her in the PICU for two weeks and on a regular hospital floor for a week. During this 3-week admission stay, it seemed like her seizures and infantile spasms went crazy and got out of control. The doctors and neurologists did not know how to treat her, because they told us that certain syndromes will worsen with certain medications. The doctors were cautious with how to treat her because they did not have a dignosis. At this time, my husband and I decided to switch our neurology care to a different hospital. We had found out that this hospital had a group of neurologists that focused on infantile spasms. At the new hospital she also had another EEG done and the neurologists witnessed her spasms.

In her short life span she has had about 15 EEG tests done. We decided the best thing to do was to put the spasms into remission with a 4-week steroid treatment. Ava has not had any infantile spasms since she had this treatment. She continued to have tonic seizures, but no spasms. At this hospital she also had a second MRI done. This MRI had a few changes than the previous MRI. This MRI also showed us that she still has the cysts in the brain, a small corpus callosum, but the difference from this MRI and the previous one is that it showed us that she has too many folds in her brain.

In February, we received our long-awaited genetic results. Ava had been diagnosed with the rare Schinzel-Giedion Syndrome. We were told that this was something that Brandon and I do not have the mutation for and that it started new in her. The geneticist also told us that there are only about 50 reported children world-wide with this syndrome. These babies have severe developmental delays, hearing and vision impairments, if they survive infancy their bodies could possibly grow tumors, the main cause of death is illnesses, and that the average life expectancy for this syndrome is 2 years of age. Due to the rarity of this syndrome, there is not a lot of information.

Not just anyone can walk in the shoes that my family has and will continue to walk in. Ava brings joy to so many. She is the light to her daddy’s eyes and rays of colors to her mommy’s joy. Ava has always been a fighter, and we pray that she continues to fight for many years to come. It saddens us to say that we do dread that day when the fight is no longer a fight anymore. I will say that we will do anything and everything to keep the fight alive.

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Just before our first daughter’s second birthday in September 1999, our second daughter Stephanie was born. It was a normal pregnancy with a Sept. 3rd due date. I went into labor on Sept. 9 and delivered at 10:02 p.m. Her APGAR scores were low, but there was meconium and the cord was wrapped around her neck so we didn’t know there was anything genetically wrong at that point. They never brought her to me in the delivery room, but my previous delivery had been a C-section so I wasn’t missing the baby-on-chest experience specifically. My husband says everyone was eerily quiet in the delivery room, like they knew something was wrong. I was too exhausted and surprised by the ‘drama’ of the vaginal delivery to really notice their reaction. They whisked her off to the NICU before I really knew what was going on.

Stephanie spent 10 days in the NICU, labeled as ‘low muscle tone’ with inability to suck (fed primarily with an NG tube as I desperately pumped breast milk, driving the 40 minutes back and forth to the hospital daily). We worked with her using different bottle nipples, including one I could squeeze to assist her. It was a frustrating and time-consuming task, but I was determined. We consulted with a geneticist who suggested a couple of possible syndromes (Prader-Willi and others… but not Schinzel-Giedion) that she might have. Reality began to set in that our baby was going to have on-going trouble. After 10 days she had gained enough weight and was getting enough milk in by mouth that they allowed us to take her home, without a diagnosis.

At home, I was the only one who could get any milk into Stephanie. I had to feed her every 3 hours around the clock, with each feeding taking 1.5-2 hours. Needless to say, I was completely sleep-deprived and kind of losing my mind. My helpful, highly-verbal two year-old learned to hold and turn the pages of her books so I could read to her hands-free while I used both hands to feed her sister.

When Stephanie was a month old, our pediatrician opted to have her hospitalized for failure to thrive. I took this personally as my failure to get enough milk into her. But later I realized it was actually a brilliant plan to get all the specialists to come to her rather than it taking months to get appointments with a neurologist, a gastroenterologist, a urologist, and another geneticist (at the other hospital our pediatrician worked through). Our pediatrician got us ‘samples’ of a very expensive human milk fortifier that we added to breast milk to try to get her weight up. 5 days later we were on our way home with some improvement in her ‘thriving’, and a few more answers about her malformed kidneys, abnormal brain development, etc., but still no diagnosis.

At about 2 months old I noticed Stephanie’s arms stiffening and jerking toward center. This was labeled ‘infantile spasms’ by the doctors and was the beginning of life-long seizures. We got her on phenobarbital to start, but never did get the seizures under control with various medications. Stephanie also had frequent urinary tract infections. I could always tell by the color and odor of her urine that she had another UTI.

At 2.5 months old, we received the diagnosis of Schinzel-Giedion Syndrome. We were devastated, struggling with acceptance. As it tends to do when you have children to take care of, life continued. Feeding took up a lot of it. When Stephanie was 5 months old, with feeding getting harder not easier, we approached our pediatrician about the ‘medical necessity’ of a feeding tube. I did not want to do it just to make my life easier, or to give up too easily if she could eat on her own. The doctor agreed that the G-tube was a medical necessity to properly feed Stephanie without so much struggle, so we got it put in. This truly was the best decision for Stephanie, for my sanity, for 2.5 year-old Rachel to ‘get her Mom back’, and for our family as a whole.

We had physical and occupational therapy come to the house weekly, and also joined the ‘baby group’ at our local public school’s Early Intervention Program. Although no one else’s child had the same rare diagnosis (many had no name for their child’s condition), it was helpful to connect with other parents and realize that we were not alone in our experiences with a special needs child.

When Stephanie was a year old, she had a temperature so high she had to be hospitalized. The doctors were preparing us that we probably wouldn’t take her home. An MRI showed that about 1/3 of her brain had disintegrated and was replaced with fluid. They said that her brain was losing the ability to control her body temperature. Amazingly she rallied and we were able to take her home. The nurses connected us with Hospice. Weekly visits by a Hospice nurse and sometimes a social worker were a great blessing to us. These caring ladies became family friends. Volunteers would come sit with Stephanie one morning a week while I went to a Bible study and my husband (self-employed) worked upstairs.

Stephanie had solid days of crying when nothing comforted her. Too much touch seemed to overstimulate and aggravate the situation, so often I just had to steel myself and try to carry on with life in some form while she cried. The Hospice nurse adjusted meds to try to calm her and relieve any pain we didn’t know the source of. Stephanie began to throw up her bolus tube feedings frequently, so we had to get a pump to put the liquid in slowly. This helped but did not completely eliminate the vomiting. She had trouble dealing with her secretions. We got a suction machine, which helped reduce the gagging. Stephanie never reacted obviously to visual or auditory stimuli, so we were never sure if she could see or hear. Later Stephanie’s oxygen saturation was not high enough on room air, so we got an oxygen machine for home and portable tanks for away from home.

Stephanie began to deteriorate as she approached 2 years old. She developed bed sores on her head from lying/resting on it all day (her head was very heavy and she never held it up at all). UTIs became more frequent. She needed more oxygen. More morphine and seizure meds. On November 5, 2001, at 26 months old, Stephanie passed away quietly in her sleep. Her Dad found her early that morning, cold in her crib. Our precious girl had finally been healed, by God taking her to heaven. We called Hospice and they called the funeral home to come get her body. Hospice staff came and helped our 4 year-old, and us, process the loss.

Friends and church family helped us organize a beautiful evening funeral service for Stephanie at our church. Many people from our extended families, out of town friends, church family, and people who helped us care for Stephanie came to the visitation and funeral. The next day we had a graveside service and buried her in the Babyland section of a local cemetery. It was a difficult but nevertheless precious time with family and friends, celebrating Stephanie’s going to heaven.

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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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