Shiloh is a strong, determined, and joyful eleven-month-old girl. She resides in San Diego, California with her mom, Katie and her dad, Colton. Some of her favorite things are being tickled, bath time, and being with her family. Shiloh has faced many challenges, but she’s persevered through each one and continues to face her days with smiles and determination. She is a beautiful reminder that each day and each moment is a precious gift that should not be wasted.
Katie experienced a normal pregnancy until the second trimester when she opted to have a genetic screening done to find out the gender of the baby. “I was so naive at the time that I thought, I’m just going to do this to find out the gender. Little did I know that this test didn’t even test for the gender. I was thinking there’s no way that anything will be genetically wrong,” Katie shares. The test was completed and Katie and Colton eagerly awaited the results in hopes to find out whether the baby was a boy or a girl.
The OB called Katie a few weeks later to report that the results seemed unordinary. The test showed the baby had a 1 in 6 chance of having Down syndrome. Due to Katie’s young age, these odds were extremely high and she was referred to a maternal fetal specialist. The specialist reported that she saw four soft markers for Down syndrome, one of which was a single umbilical artery. Another report showed that the baby appeared to be severely small, and she remained in the second percentile throughout the entire pregnancy.
Katie was set up to complete another extensive blood test and would have to have frequent doctor appointments so the baby’s growth and umbilical cord flow could be monitored. The results came in a short time later from the extensive blood test and the OB joyously reported that everything came back completely normal and that the baby may just be a small baby and there was nothing to worry about. They would continue to monitor the baby’s growth, but she was no longer considered high risk.
It wasn’t long after this that the baby’s umbilical cord flow became elevated and the doctor had Katie come in twice-a-week for non-stress tests. A week and a half later at a routine OB appointment, Katie’s doctor discovered her blood pressure was very high and was admitted to the hospital immediately for pre-eclampsia. “I had no idea how serious it was. I had no clue. I thought I would be discharged and we would then monitor the baby,” Katie shares. The doctor let Katie know that they would be delivering the baby very soon. Katie and Colton were living in Texas at the time. The plan all along had been for her to deliver in California since that was where they were planning on locating and raising the baby. They had been planning the logistics of the move and were in discussion with the doctors in California and had plans in place to leave the weekend this all occurred.
Family soon rushed into town to be with Katie and Colton. Katie’s symptoms continued to worsen and three days later it was showing that the baby’s cord flow was completely absent. “I was honestly unrecognizable at this point. People who had seen me and been in that room with me who didn’t know me had no idea it was me after they saw me post-delivery because I was so swollen,” Katie explains. At 31-weeks pregnant it was decided they could not wait anymore due to the baby’s health and Katie’s and a c-section was quickly planned.
Once Shiloh was delivered, they rushed her off to the side to be worked on. “When I delivered her she didn’t make a lot of noise. I honestly thought she was dead because she wasn’t moving or making noise and I could only see her out of my peripheral vision and all I could see was them doing the bag oxygen on her,” Katie recalls. “I was able to kiss her on the forehead before they whisked her away to the NICU and I did not see her again for three more days.” Katie’s blood pressure did not approve after delivery but worsened. Katie was put back on magnesium sulfate to prevent her from having seizures and she was placed on blood pressure medication while trying to recover from the c-section.
When Katie was able to see Shiloh there were still not clear answers as to what was going on with her. Katie was able to hold and snuggle her for the first time, but shortly after Shiloh had to be intubated and hooked up to an oscillator that breathed for her. She was sedated and placed on minimal stimulation, which meant that Katie and Colton could barely touch her during that time. “I was naive and thought that this kind of care was normal for a baby who was born at 31 weeks. I did not realize how sick she was,” Katie shares.
They were at the NICU for about a month when the doctors were alarmed that something was wrong. They assumed Shiloh had something called biliary atresia due to her stools being colorless and her bilirubin and liver panels not being as they should be. They reported that she would need to be transferred to Texas Children’s Hospital the next day so that she could receive a life saving treatment.
When they arrived at the Children’s Hospital, Shiloh was immediately examined by a large group of specialists and the GI team quickly reported that they did not believe Shiloh had biliary atresia. The genetics team became involved and they noticed very small markers on Shiloh and reported that people could have one of two of these markers, but when you have a constellation of them something is going on. After completing more tests, the genetics team met with Katie and Colton and reported that they finally had an answer for them. They reported that Shiloh had something called Cri Du Chat Syndrome. Cri Du Chat syndrome is a rare genetic disorder due to chromosome deletion on chromosome 5. “It was one of those moments that’s in your mind forever. When they told us intellectual delay was involved, I think everyone was taken aback because this wasn’t even remotely what they were looking for. They thought something was wrong with her liver. They thought it was going to be something more medical and solely medical. It was a huge shock,” Katie shares.
Meanwhile, Shiloh was not doing well in the NICU. Her oxygen saturation was dropping and they were rushing to stabilize her and she was having bradycardia episodes. She required another blood transfusion and was placed on IV glucose. The team began discussions with Katie and Colton about transferring care to California since that is where they were planning on locating and Shiloh would need extended care once she was discharged from the NICU. They spent two-and-a-half months at the children’s hospital in Texas and then packed up and boarded a prop plane and were transferred to the hospital in California.
At the NICU in California they were able to get set up with all of Shiloh’s doctors and Shiloh received a g-tube and fundoplication surgeries. After a total of 122 days amongst the different NICUs they were finally discharged and able to go home as a family. They had to be readmitted three times to the hospital shortly after discharge, but they are now home with Shiloh and adjusting to their new normal. Shiloh’s weeks are full of doctor appointments and therapies, but she is thriving. “She’s amazing and she’s doing so well,” Katie beams. While Shiloh has had a rough beginning to her life, it has not put a stop to her joy. She radiates with love and happiness and she continues to smile through her challenges.
Time to get loud shouters!
Throughout the month of June we will be shouting love for Shiloh and her family. It is a great honor to be able to tell Shiloh’s story and we hope you will join us in getting to know her and her family.
Join us in shouting loud for Shiloh!