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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