August 06, 2024
At the start of 2023 I found out that I was expecting our fourth sweet baby. I had always dreamed of having a bunch of kids close in age to grow alongside one another and be forever best friends. So, adding a fourth child to the mix was a welcome gift.
We learned early on that it was going to be a boy and I chose to name him Shiloh for two reasons: 1. Shiloh means “peaceful one” and “gift from God” 2. The tents of Shiloh were known as a place that people went to find rest and meet God. I thought the name had a powerful and beautiful meaning, and not to mention, I was hoping that giving him a name that meant peace might somehow prophesy a baby who was indeed peaceful. At this point, it seemed like we only bred wild and feral children with loads of energy. So, I crossed my fingers and prayed the name would foreshadow a calm and peaceful child to join our crew of crazies.
My pregnancy was normal and as healthy as could be. It was October 2, 2023, the day Shiloh appeared. The air was crisp, and the grey sky of Fall was lighting up the trees in a special kind of way. We spent the day curb walking in between contractions, wondering what it would be like to meet this little guy.
To my surprise, his labor took a lot longer and was way more painful than I had expected for my fourth child. He just didn’t want to stay engaged. I remember realizing that if I didn’t push with every ounce of strength in me, things could go south quickly. So, I pushed, HARD. And with the help of my midwives, Shiloh came rushing into this world at a whopping 22.5 inches long and 6lbs 12 oz.
My first initial thought seeing him was that I had just made the cutest baby yet (shhh, don’t tell the others). He was the perfect mix of his three older siblings, beautiful in every way. It took a bit to stimulate him to cry and even when he did, it was quickly over, and he went back to full chill mode. Everyone in the room could not get over how peaceful he was.
Later we took him home and I swaddled him up and laid him in the bassinet next to me, setting my alarm for 3 hours later to wake and nurse him. I closed my eyes and quickly fell asleep. The labor was exhausting and I was more than ready for a nap. Two hours in, I woke up and checked the time to see that I still had another hour till feed time. I closed my eyes to fall back asleep and instantly heard a nudging voice go off in my head, “go check him”.
So, I did what any mother would do, I peered over the edge of my bed and laid my hand on his forehead to find it cold as ice. I quickly jumped out of bed and began to unswaddle him. As I was unswaddling him, I noticed how limp and unresponsive he was. I held him to breast to try and get him to eat and he just laid there limp in my arms. I grabbed a thermometer and took his temp. It was so low I thought it couldn’t be right, so I proceeded with a rectal temp to make sure. And to my frightened surprise the thermometer read 91.7 degrees.
At that moment I think total shock took over me and the next few hours that followed were a blur that eventually led to me finding myself in the emergency room of our local hospital. I stood in the corner of the packed room, shaking and sobbing as the nurses put a heater over him and continued to try and stimulate him to an awake state. After who knows how long, the ER staff was able to get him to stabilize and we sat there with his pediatrician discussing next steps.
After a series of blood draws, MRIs, CT scans, ultrasounds, X-rays, spinal taps that all came out clear and normal, we waited for the results of the final test of a genome sequencing test. And after 7 weeks of living in the NICU, we got our answer as to why Shiloh survived. The genome sequencing test revealed that Shiloh had the very rare PURA syndrome**. This syndrome was known for its global neurodevelopmental delays. As we sat in the room with his NICU doctor, she explained what this meant and what next steps we would take. She paused in the middle of her sentence to make eye contact with my tear-filled eyes and said, “your little boy is going to be okay, and I believe he will live a very full and happy life”.
That was all I needed to hear at that moment. After weeks of testing and coming up with no answers, I had begun to worry if he would ever be okay. But as I looked down at him, tears falling from my eyes, I couldn’t help but rejoice that he was going to be okay. That was all I needed to know.
The following weeks were full of meetings with his new team of specialists. We came up with a game plan and were finally discharged from the hospital on Thanksgiving Day. And what a day full of Thanksgiving it was. Shiloh came home with a NG tube for feeding, and oxygen support that he would wear 24/7.
Since then, we have successfully transferred to breast feeding, and we continue to see Shiloh’s breathing improve by the day. Shiloh continues to light up our lives with his soft demeanor and sweet smiles. My three older children fight over who gets to help with his equipment and care.
It’s been a learning curve trying to find the best baby gear and systems that are adaptable and supportive for his low muscle tone. When Shiloh is in his Ergobaby bouncer he is able to watch his brothers and sister dance and play around the room and bounce happily along with them. Since Shiloh is on oxygen support 24/7, he has a lot of luggage that comes with him everywhere we go.
The Metro+ Deluxe Stroller has been the perfect compact, lightweight stroller of our dreams. It easily holds all his oxygen supplies all while allowing him to be a part of every adventure we take. Because it can lay flat, it provides a safe ride for his low muscle tone, and he often takes cozy cat naps while we’re out and about. The see-through vent above his head allows him to experience everything around him and keeps him nice and entertained on our walks.
Despite Shiloh’s disabilities, we want him to experience his life to the fullest and join us in every adventure. Our Ergobaby gear has provided the freedom and flexibility for a more accessible world for our sweet Shiloh boy. It’s a joy to watch the world through his eyes.
As I reflect back on the last 9 months with Shiloh, I could never have imagined the change he would bring to our lives. In the beginning I had so many questions as to why and how this could happen. But with every passing day, peace about his diagnosis floods my heart and fills me with great hope for the future I get to share with him. Just as his name proclaims, he has been the greatest gift to our family.
**PURA syndrome is a rare genetic disorder caused by mutations in the PURA gene. This syndrome is characterized by a range of neurological and developmental abnormalities. Individuals with PURA syndrome often experience developmental delays, intellectual disability, hypotonia (reduced muscle tone), and epilepsy. Other common features include feeding difficulties, breathing problems, and distinct facial features. The severity and combination of symptoms can vary widely among affected individuals. Diagnosis is typically confirmed through genetic testing, and management involves supportive therapies tailored to the individual's specific needs. There is ongoing research to better understand and treat this condition.
We learned early on that it was going to be a boy and I chose to name him Shiloh for two reasons: 1. Shiloh means “peaceful one” and “gift from God” 2. The tents of Shiloh were known as a place that people went to find rest and meet God. I thought the name had a powerful and beautiful meaning, and not to mention, I was hoping that giving him a name that meant peace might somehow prophesy a baby who was indeed peaceful. At this point, it seemed like we only bred wild and feral children with loads of energy. So, I crossed my fingers and prayed the name would foreshadow a calm and peaceful child to join our crew of crazies.
My pregnancy was normal and as healthy as could be. It was October 2, 2023, the day Shiloh appeared. The air was crisp, and the grey sky of Fall was lighting up the trees in a special kind of way. We spent the day curb walking in between contractions, wondering what it would be like to meet this little guy.
To my surprise, his labor took a lot longer and was way more painful than I had expected for my fourth child. He just didn’t want to stay engaged. I remember realizing that if I didn’t push with every ounce of strength in me, things could go south quickly. So, I pushed, HARD. And with the help of my midwives, Shiloh came rushing into this world at a whopping 22.5 inches long and 6lbs 12 oz.
My first initial thought seeing him was that I had just made the cutest baby yet (shhh, don’t tell the others). He was the perfect mix of his three older siblings, beautiful in every way. It took a bit to stimulate him to cry and even when he did, it was quickly over, and he went back to full chill mode. Everyone in the room could not get over how peaceful he was.
Later we took him home and I swaddled him up and laid him in the bassinet next to me, setting my alarm for 3 hours later to wake and nurse him. I closed my eyes and quickly fell asleep. The labor was exhausting and I was more than ready for a nap. Two hours in, I woke up and checked the time to see that I still had another hour till feed time. I closed my eyes to fall back asleep and instantly heard a nudging voice go off in my head, “go check him”.
So, I did what any mother would do, I peered over the edge of my bed and laid my hand on his forehead to find it cold as ice. I quickly jumped out of bed and began to unswaddle him. As I was unswaddling him, I noticed how limp and unresponsive he was. I held him to breast to try and get him to eat and he just laid there limp in my arms. I grabbed a thermometer and took his temp. It was so low I thought it couldn’t be right, so I proceeded with a rectal temp to make sure. And to my frightened surprise the thermometer read 91.7 degrees.
At that moment I think total shock took over me and the next few hours that followed were a blur that eventually led to me finding myself in the emergency room of our local hospital. I stood in the corner of the packed room, shaking and sobbing as the nurses put a heater over him and continued to try and stimulate him to an awake state. After who knows how long, the ER staff was able to get him to stabilize and we sat there with his pediatrician discussing next steps.
After a series of blood draws, MRIs, CT scans, ultrasounds, X-rays, spinal taps that all came out clear and normal, we waited for the results of the final test of a genome sequencing test. And after 7 weeks of living in the NICU, we got our answer as to why Shiloh survived. The genome sequencing test revealed that Shiloh had the very rare PURA syndrome**. This syndrome was known for its global neurodevelopmental delays. As we sat in the room with his NICU doctor, she explained what this meant and what next steps we would take. She paused in the middle of her sentence to make eye contact with my tear-filled eyes and said, “your little boy is going to be okay, and I believe he will live a very full and happy life”.
That was all I needed to hear at that moment. After weeks of testing and coming up with no answers, I had begun to worry if he would ever be okay. But as I looked down at him, tears falling from my eyes, I couldn’t help but rejoice that he was going to be okay. That was all I needed to know.
The following weeks were full of meetings with his new team of specialists. We came up with a game plan and were finally discharged from the hospital on Thanksgiving Day. And what a day full of Thanksgiving it was. Shiloh came home with a NG tube for feeding, and oxygen support that he would wear 24/7.
Since then, we have successfully transferred to breast feeding, and we continue to see Shiloh’s breathing improve by the day. Shiloh continues to light up our lives with his soft demeanor and sweet smiles. My three older children fight over who gets to help with his equipment and care.
It’s been a learning curve trying to find the best baby gear and systems that are adaptable and supportive for his low muscle tone. When Shiloh is in his Ergobaby bouncer he is able to watch his brothers and sister dance and play around the room and bounce happily along with them. Since Shiloh is on oxygen support 24/7, he has a lot of luggage that comes with him everywhere we go.
The Metro+ Deluxe Stroller has been the perfect compact, lightweight stroller of our dreams. It easily holds all his oxygen supplies all while allowing him to be a part of every adventure we take. Because it can lay flat, it provides a safe ride for his low muscle tone, and he often takes cozy cat naps while we’re out and about. The see-through vent above his head allows him to experience everything around him and keeps him nice and entertained on our walks.
Despite Shiloh’s disabilities, we want him to experience his life to the fullest and join us in every adventure. Our Ergobaby gear has provided the freedom and flexibility for a more accessible world for our sweet Shiloh boy. It’s a joy to watch the world through his eyes.
As I reflect back on the last 9 months with Shiloh, I could never have imagined the change he would bring to our lives. In the beginning I had so many questions as to why and how this could happen. But with every passing day, peace about his diagnosis floods my heart and fills me with great hope for the future I get to share with him. Just as his name proclaims, he has been the greatest gift to our family.
**PURA syndrome is a rare genetic disorder caused by mutations in the PURA gene. This syndrome is characterized by a range of neurological and developmental abnormalities. Individuals with PURA syndrome often experience developmental delays, intellectual disability, hypotonia (reduced muscle tone), and epilepsy. Other common features include feeding difficulties, breathing problems, and distinct facial features. The severity and combination of symptoms can vary widely among affected individuals. Diagnosis is typically confirmed through genetic testing, and management involves supportive therapies tailored to the individual's specific needs. There is ongoing research to better understand and treat this condition.