Avery-In Loving Memory
Avery is truly a special Angel-so grateful I had an opportunity to meet her amazing family and get to spend a little time with her.
In Loving Memory- August 2018
We were all so excited about the birth of our new baby! I went in at 7:00pm on June 8th to be induced to have our third child. McKenna and River, our children, were old enough to know what was going on and wanted to be at the hospital to see their new sibling. 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 took her, cleaned her up, and then let me hold her for a minute before telling me that she needed to go to the NICU to be monitored for an hour. 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 me out, I was allowed to go see my baby. Avery was hooked up to many machines; the most noticeable was a big mask on her face. It was soon apparent that she would be staying in the NICU much longer than first expected. Jade spent the night in the NICU, and I was encouraged to go get some rest and pump. I couldn’t sleep, so I walked up to the NICU to sit and watch my precious new bundle of joy.
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 the different shape of her eyes 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. Over the next two days we had several neonatal doctors come look at our daughter and start to question the Down Syndrome diagnosis. Even though the blood tests were not back, we were told that she did not have Down Syndrome. That is when the tests started. During our daughters 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; they searched and tested trying to identify what Avery had been born with. While all this was going on, Avery was able to come off of the CPAP machine and put on a high flow oxygen cannula. She then fought hard to transition to a low flow 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 birthday with no answers to diagnosis, but a long list of follow up appointments. Avery had been diagnosed with 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. 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 sister. 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. Avery had a swallow test and upper GI test conducted to make sure she was not aspirating her milk. She passed with flying colors and graduated to a regular nipple. 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, but that he didn’t have enough evidence to do any testing. Also, during this month we had our follow up appointment with her cardiologist and found out that her PDA closed, but that she still had a moderate sized ASD in her heart.
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 started on phenobarbital and the seizures were only seen once or twice a week. Soon after, Avery was diagnosed with CVI (cerebral visual impairment) which means that her eyes are structurally fine; the nerve that sends messages to her brain does not function properly. We started visual therapy twice a month. We also started physical therapy twice a month to help with her high tone in her legs.
Avery qualified for the RSV shots, but did end up in the hospital right before getting her first shot with a cold that caused a lot of respiratory distress and many seizures. After being sick, Avery’s seizures continued to increase to the point where we were having up to twenty a day. We added a new medication, Kepra, to help stop convulsions. The seizures went down to anywhere in the range of six to twelve a day. We had our follow up appointment with the geneticist in February. At this visit, the geneticist felt very strongly that Avery fit the characteristics of Schinzel-Giedion Syndrome. We had a full skeletal scan done and her blood drawn. Then her labs were sent to the University of Chicago to be tested.
In March, Avery got a kidney infection that caused her to be in the hospital for four days. After this stay, Avery’s neurologist suggested that we try to wean off of phenobarbital and start a new medication. She started taking Topomax and after about a week the seizures lessened, but she stopped peeing. For a week we would cath Avery every eight hours to drain her bladder. After a week, she started peeing but ended up in the hospital with another kidney infection. In the beginning of May, Avery ended up in the hospital again with parainfluenza II. We started at the pediatrics unit by our home and then ended up at the Children’s Hospital. While there, Avery’s lab results came back. They are consistent with what her geneticist was thinking. So we now have a diagnosis, Avery is the 43rd documented baby in the world ever to have Schinzel-Giedion Syndrome. There may be a few more diagnosed that were never written about, but even then, we are looking at a very rare group of kids. Not much is known about the syndrome because there is such a small population to learn from. Most children with this diagnosis end up living only about two to four years. We also found out that she was having infantile spasms, which were uncomfortable for her and making her extremely tired. We will be starting a steroid treatment soon to help get rid of these. Up to this point, Avery had been eating from a bottle, but it was always a struggle to get her to intake enough fluids, especially when she was sick. The speech therapist came and took a look at Avery and we decided that a NG tube would be a good option for Avery until she is done with the steroid treatment and strong enough not to aspirate her feedings. After finding out this information, a care conference was set up with all of Avery’s specialists. This meeting was a very good experience, most of that thanks to a program called Rainbow Kids. Avery will have many challenges to overcome physically in her life. Our goal is to make her comfortable and happy and enjoy her. Developmentally at eleven months of age, Avery is working on holding her head up on her own, grasping toys, and reaching for objects. Avery has hard days where she doesn’t feel very good, but she always is a loving baby. When she is feeling good, she will smile at us and enjoys music! People who meet Avery fall in love with her in an instant. We are so lucky to have her in our family.