It’s a girl! I was overjoyed when the doctor told me. We had two boys, 2 and 4 years old at that time, we so much wished to have a girl. That was in the 17th week of pregnancy. Everything seemed to be perfect, we had two healthy children, what could happen. We waived additional preventive medical checkups.

There were no abnormalities whatsoever- until the 30th week of pregnancy. During the next ultrasound, the doctor was unusually silent. I had a bad feeling and suddenly he said something was wrong. “Look at the kidneys, both very large, congested and cystic.” I also had far too much amniotic fluid. I felt sick. My gynecologist was always very honest and direct when I asked him what this could mean. A syndrome. Trisomy 18 maybe. He told me to go straight to the hospital for an amniocentesis. The doctor at the hospital was more optimistic. It does not have to be that bad, just wait. The results of the test took 10 days. I think those were the worst days of my life, knowing our daughter was going to be sick or even might not be able to survive.

The result was unremarkable. It took a load off my mind; the doctor was stumped. He was still sure she had a syndrome, but I wanted to finish the pregnancy more positively and hoped that everything would be ok. He sent me to another doctor, in hospital, a nephrologist who was supposed to have better equipment. I went there every week for an ultrasound.

Unfortunately, he also found abnormalities in the baby’s brain. “That doesn’t mean anything, but in the worst case she could be blind.” I was totally insecure. We would have to wait until she was born, we should not worry so much. Easy to say… I was especially scared this time before the birth. I thought maybe she would not make it because she was sick. There was talk of possible adjustment problems and we thought about a C-section. But the doctors advised against it, the adjustment problems could be even harder for her, she was estimated at 4 kg, she would make it. So, we waited.

6 days past the calculated date of birth, on 11.05.2018 was the day. We were in the hospital for a routine check when it started. After 7 hours of being in labour she was delivered with the help of a suction cup. The birth was extremely dramatic, her heartbeat was gone, and everything had to be done very quickly. I felt as if she was ripped out of my body. The room was full of people, doctors, nurses and midwives. They tried to help her, she did not make any noise and did not breathe. I shouted, “What’s happening to her?” After a while, a doctor said she was breathing and now she was going to the NICU for monitoring. “What shall be her name?” – ” Carla”, I said. They would not let me see her. Meanwhile the doctors took care of me, I had atony and lost a lot of blood.

2 hours later my husband was allowed to visit Carla, I asked him to take a picture. She was cute, our baby, but I also noticed that she looked somehow different. I was extremely tired and so glad that she survived the birth.

The next day they brought me to her in a wheelchair. I could hardly see anything of her little face. A cap with a breathing mask covered it. She also had a feeding tube for the milk. I was allowed to take her in my arms and fell in love immediately. She had her tiny hands clenched in fists. Her little toes were slightly above the other toes and her ears looked a little deep out of her cap. “All very obtrusive, she even has a special voice” the doctors said. A team of geneticists would look at her in the next few days. I could not breastfeed her and so I went every day and tried to bottle-feed her my milk, it was very difficult. She always had too little oxygen and had to be supported.

Carla’s brothers could see her after 3 days. They had so many questions, I hoped I would soon have an answer. After one week I was able to go home. Carla had to stay for another week, then she was stable that she was transferred to the children’s hospital.

When the boys were in kindergarten, I was at the hospital with Carla helping her to practice drinking. Carla learned fast but she still had to use the feeding tube for milk. She had some tests that confirmed what we knew. Bilateral hydronephrosis and underdeveloped corpus callosum. Her eyes and ears could not yet be examined properly. Each kidney had 50% function, and her blood levels were good. So, if she learned to drink, she may go home. Thanks to the help of the nurses, we managed to achieve this. She was finally able to go home after a total of 5 weeks.

After 3 weeks was the first suspicion of Schinzel-Giedion Syndrome. Even the doctors had not heard of it yet. They would test for it. We did not want too much information about this syndrome until the final tests were done. We wanted to wait and see if it was confirmed or not.

The day I picked her up, I was full of joy. Finally, I can take our baby home. The doctor asked if I was alone, or if I needed to be picked up. I was alone, my husband worked all day and could not come. She wanted to talk to me before I went home with Carla.

She had good news and bad news. The good news is we have a confirmed diagnosis of Schinzel-Giedion Syndrome. And they got it quickly, which is not easy, because it is an exceedingly rare disease. But it would have been worse not to have a diagnosis, not to know what is wrong with her. The bad news was the consequences of this diagnosis. She would not tell us earlier. The child has a life expectancy of about 2 years, will develop very slowly, sometimes hardly at all. I was shocked. I wondered: “What could be worse than this prognosis?” I was devastated, phoned my husband immediately and told him everything. I waited with Carla for a while until I calmed down and went home with her.

I did not want to believe it. This day, which was supposed to be so happy, turned into a sad day. I bathed Carla and while I was massaging her, I talked to my friends on the phone. “I love my daughter, we will enjoy the baby time, as normally as we possibly can.” I did not want to learn more about this syndrome for a while…

It was a nice first summer with her. Carla was physically very well at that time. We wanted to make the time she had as beautiful as possible. I avoided any idea that she might not be with us for long and started to have faith in her. She was so cheerful, always sweet, cried little and slept well at night. The sucking on the bottle got better and better and I was able to calm her down most of the time by cuddling and holding her hands.

We celebrated Carla’s christening that very summer, we were afraid that her condition might decline. Before we took her with us on our summer holiday, we had to have some tests done. Will she be able to come with us? After a short time, we no longer needed the feeding tube. It was tedious and took a long time, but Carla managed her daily milk rations. The nephrologist was also satisfied: – Nothing has changed. Carla’s blood values are fine, the kidneys are working well. She hardly needs any support, no oxygen, hardly any medication, just antibiotic prophylaxis.

The holiday was great, we were in the mountains and I was able to take Carla with her 4 kg everywhere. Our family and friends accept and integrate her as she is. A wonderful experience, everyone had her on their arms and was interested in her, that gave me incredible strength. At the end of the holiday she would start to regurgitate a lot, the milk came out of her nose. I was worried, but her condition improved again, and it only came in transients. She choked more often, but we learned to deal with it well.

Soon we noticed that she was having seizures, more and more often. Her sleep got worse and she became very restless in the evening. After an EEG, she was given medication for epilepsy. She had more and more mucus and had to inhale more often to cough up the mucus. She often had a rhinitis and could hardly breathe. I became more and more worried: – Does she need a feeding tube after all?

Up to then we had always refused to accept this. I am always so happy when she drinks, one can really see how she likes it. I started to learn about Schinzel-Giedion Syndrome. I wanted to help her as much as I could and felt very alone. Nobody really knew about it. It became more and more obvious over time that she was not really developing well. We suspected that she could not see at all or only poorly, she hardly reacts to sounds. She does not reach for things and is rather apathetic. She does not cry and she does not laugh.

I searched the internet and found a story about a girl, with beautiful pictures. I read it, I think, three times. It was the first time I saw pictures of a child with this syndrome, and they all look so similar. It was a story written by the family, not by doctors. Experiences and feelings of people who are going through it themselves, like we are. It helped me so much. I was impressed by the love and strength of this mother. I wanted to be strong too. I also wanted to be there for Carla. What good is it for my baby if I cry, if I surrender or if I am sad. I want her to feel that I love her and will always be here for her.

Shortly afterwards we had an appointment with a geneticist. We were to be tested and Carla was examined. The doctors were very interested in her and had never seen a child with this syndrome before. We did not really get answers to our questions, just statistics and tables were shown to us. We were given forecasts about her short life expectancy, her poor mental and physical development. As expected, our genetic test was without result. Carla’s genetic defect is a new mutation. The geneticist pointed out to us that there was a Facebook group. I was very curious and willing to meet more parents. I received a very warm welcome and was overwhelmed by the many testimonials and pictures. A great community and support, for which I am still infinitely grateful.

The list of drugs has become long now, and it has not always been easy to administer everything to her orally. She is given medication for constipation, for flatulence, two drugs for epilepsy – which we have better, but not completely under control yet – and a sleeping pill and sedative. Along with the increased number of seizures, her sleep was so disturbed that she could not sleep for weeks and cried hysterically at night. That was a hard time for us. My husband works during daytime. While the boys are in kindergarten and school, I often have appointments with Carla, or we spend time at home or with friends. My parents moved to live with us, my mother supports me a lot and now we also have a home help, which is partly financed. So, we get along well.

Carla is developing very slowly, but we do as much as possible to support her. We go to physiotherapy once a week, Carla likes that very much. She likes to be moved and loves to be massaged. Once a week she has early vision support, we play a lot with lights and sounds, to try out what she likes. Carla makes very little progress, but she usually seems relaxed, opens her hands, can turn her head and lift it slightly. If leaned back against support, she can sit for a short time. She cannot see well, but she follows bright and colorful lights with her eyes. She also has hearing aids, but unfortunately, she still does not respond well to sounds. That is why we focus on the sensory aspect. Cuddling, caressing, putting lotion on and bathing, she loves that. Sometimes she smiles for a short time. I know Carla well, she does not have much expression on her face, but I can see exactly when she feels good, has pain or is angry.

We try to avoid unnecessary procedures and tests; we do not want her to be tormented just to get another diagnosis that can’t be changed. We do whatever is necessary so that she can live without pain. Of course, we undertake all preventive and routine examinations. We have met such great people, great doctors and nurses who have impressed me very much and to whom we also like to come.

Carla is now 2 years old. She is almost blind and almost deaf; she will not be able to sit or walk. She will not speak. Sometimes I am sad when I see children her age playing and romping, I wish the same for her. But we have accepted that Carla’s world is different. It does not matter what she cannot do, it’s important that she is doing well and that she can enjoy the life she has. And she can do that, everyone loves her, our family, our friends and acquaintances, everyone accepts and integrates her. Everyone is very understanding and respectful towards her and towards us. I am incredibly grateful and proud that we have such a great family and friends who do not turn away but stand by us and are there for us. We love you; we thank you!

“Life’s a bed of roses”, that was my slogan in life. To regard everything as positive as possible. With Carla I had to learn painfully that life is not always bedded on roses. But I would like it to be – and so we now live together with Carla in our rose garden. And it is good the way it is. It was not easy to write about Carla, such feelings can hardly be put into words. I hope that Carla’s story will be going on for a long time to come.

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

Aaron has been Aaron since our 20-week anatomic ultrasound. Soon after revealing that we were having a baby boy, our obstetrician explained that Aaron’s kidneys were not growing like they should be and referred us to a perinatologist immediately. We weren’t sure what was going to happen next, but my husband and I felt strongly that our baby needed a name before we went any further. Damian already liked the name Aaron, and when we found out its Hebrew meaning – “mountain of strength” – we felt that it was meant to be. We never imagined just how well Aaron would live up to his name.

The kidney issue was ultimately diagnosed as hydronephrosis (an enlargement, or swelling), which created an excess of amniotic fluid. This wasn’t really a problem until the 31-week ultrasound, when it mysteriously dropped to a dangerously low level and I was admitted to the hospital for 3 weeks of constant monitoring. By 34 weeks, the amount of amniotic fluid was so low that our doctor decided it would be more dangerous for Aaron to remain inside the womb than come out. She scheduled a C-section for the next morning. On September 19, 2017, our much wished for boy was born!

We knew there was a chance Aaron might have trouble breathing due to his prematurity. I was in a daze from the spinal block, so it didn’t register to me that Aaron didn’t cry when he was born. In our first picture as a family, Aaron is wrapped up tightly with a BiPAP mask attached to his tiny face. Damian went to the NICU with Aaron, signing the first of many scary medical release forms that we would see over the next two years.

Aaron stayed in the NICU for 101 days. He was intubated with ventilator support for the first month. Two days after he was born, Aaron had surgery to insert a nephrostomy tube into the ureter of his right kidney to relieve the swelling, which worked better than anyone expected. After all of the initial worrying about his kidneys, they turned out to be the least of our challenges! Aaron had his first set of seizures when he was only 3 weeks old. An MRI revealed that he had polymicrogyria, an abnormality of the brain that can result in epilepsy and varying degrees of developmental delays.

Thankfully Aaron’s seizures could be controlled with medicine, although it took about 7 months to figure out the combination of medications that worked best for him. By the time Aaron was breathing on his own and allowed to start eating by mouth, it was extremely difficult to get him to take anything. He would have streaks of doing well, increasing the amount of milk he would drink each day. But after 2 or 3 days, he would revert back to taking almost nothing. The doctors suggested a g-tube so that Aaron could learn to eat at his own pace. Initially this idea felt very unnatural to us, but as we learned more about it, we realized it was the safest and fastest way that we would be able to take Aaron home. Getting the g-tube was one of the best decisions we ever made, as it allowed Aaron to get the nutrition and medication that he would have never been able to take any other way.

On December 26, 2017, the results of Aaron’s whole exome sequencing genetic testing came back. The geneticist told us that Aaron had Schinzel-Giedion Syndrome (SGS). She began to rattle off a long list of symptoms that Aaron might acquire: developmental delays, epilepsy, hearing and vision loss, chronic kidney disease, cancer. I interrupted her to ask what Aaron’s life expectancy would be, which surprised my husband and myself – normally we always made a list of questions together in advance to ask the doctors. The room got very quiet as we were told that the life expectancy for children with SGS is usually between two to five years. We asked the doctors to leave the information packet with us and end the meeting. Then we closed the door and both of us cried.

Three days later, we were finally able to take Aaron home and we threw ourselves into learning how to take care of our special boy. We slept in shifts. We became experts at pulling meds and running tube feeds. We learned how to position Aaron so that he wouldn’t struggle as much from the near constant reflux and infant dyschezia (straining to poop). We started physical therapy and practiced “neck control” for as long as Aaron could handle it. Aaron did not respond to many toys or sounds. Slowly he began to enjoy the crunching sound that a stuffed giraffe would make when he squeezed it, and eventually was even able to hold a spoon for a few seconds at a time. He started tracking toys that had lights in them. He was a happy, smiley boy and rarely fussed or cried, unless he was experiencing break-through seizures.

At 9 months old, Aaron started having infantile spasms. Oh, how I hated them. The prednisolone that he was prescribed stopped the spasms, which was the most important thing, but Aaron slept for 20 hours a day during that month of taking this medicine and was drowsy the rest of the time. It broke our hearts to see his progress with holding and tracking objects completely regress. We were so relieved when this course of medicine was over and our happy boy came back to us.

We decided to take Aaron to Sesame Place for his first birthday. We were not sure how he would handle all of the noise and people, but he smiled all day! We held a big party with family and friends a week later, which he also enjoyed so much! The night after his party, Aaron began to scream whenever we laid him on his back. After a day of this, we took him to the pediatrician. There was swelling at the base of his spine, where he had what the doctor had previously referred to as a hemangioma (a bright red bumpy birthmark). The pediatrician was shocked to see how large this had grown in the few months since he had seen Aaron and sent us straight to the hospital for an MRI. After several screenings, it was determined that this mass was a primitive neuroectodermal tumor (PNET), an aggressively malignant cancer.

We had always known that cancer was a possibility from the SGS diagnosis, but this didn’t stop us from being devastated when it actually happened to Aaron. The tumor was removed a month later, followed by 2 weeks of daily radiation sessions. Aaron was so strong – he handled the repeated sedation required for the radiation amazingly well. After the radiation, you could tell that he felt better. But about a month later, he started to have trouble tolerating his feeds. Even at the slowest speed, he would vomit repeatedly, barely keeping anything down. During a screening to look for intestinal blockages, the x-ray happened to catch images of gravel-sized specks in Aaron’s lungs. The cancer had returned, spreading to his lungs as Ewing’s sarcomas.

We were determined to give Aaron the best quality of life we could. We started hospice services and were blessed to be given the kindest and most thoughtful doctor and nurse team. They made all of us feel better. With their help, we took Aaron on two more trips: to visit family in New York, and a long weekend at the beach in Ocean City, MD. We gave him tastes of ice cream and french fries and helped him put his feet in the Atlantic Ocean. He didn’t like the cold water, but he did enjoy wiggling his toes in the sand.

At the beginning of June 2019, an MRI showed that the tumor at the base of his spine had started to grow back. We did one more radiation session which helped for a few weeks, but we could see Aaron start to decline by the end of July. He was sleepy a lot of the time, as we were constantly having to increase his pain medication. It hurt him too much to sit up, so he was always flat on his back or on his side. To hold him, I would lay him flat on a pillow that I put across my lap. Only Damian was able to carry Aaron in a way that wouldn’t make him wince in pain. At the end of August, he contracted a fever that wouldn’t go away. We were sent to the hospital for an x-ray that ended up showing a severe case of pneumonia, complicated by the tumors that were continuing to grow and spread in his lungs.

We took Aaron home and our hospice team arrived within the hour to help make him comfortable. They expected that Aaron would pass away within a few days. Not knowing what would happen each night while we were asleep, before bed my husband would say his favorite prayer as a child and then I would read Aaron a book by Nancy Tillman – “Wherever You Are: My Love Will Find You”. Our strong boy rallied to live for two and a half more weeks. Aaron passed away on September 11, 2019, just eight days before his second birthday.

Aaron showed us how to love with all our hearts. His strength and sweet spirit make us want to be the best versions of ourselves for him. Our hearts hurt every single day, but we are glad that they do because it means that Aaron is still with us. We decided to finish Aaron’s Celebration of Life service by blowing bubbles to him in the sky. As we did, we told him, “Our love will find you, wherever you are!”

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

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.

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

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.

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

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.

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

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.