Brett and I have been wanting to share details of our experiences since Ryker’s debut into this world on August 25, 2018, but sometimes the words are hard to come by. How could we ever explain what it has been like? What we have been going through? All that goes in to trying to navigate the world of medical complexity and special needs? In respect to the rapidly approaching Rare Disease Day, we felt this was as good a time as any! If you don’t know what PURA syndrome is, neither did we. We hope that this open letter can give each and every one of you a clearer view of the WHOLE picture, through our eyes- including your part in shaping it. Yes, this is long, but we hope you will take the time to read it and we hope that it resonates with you in some way. Perspective is everything, and this is ours…..
Our second pregnancy was planned. We had an uneventful first pregnancy and a happy, healthy one year old. We wanted him to have a sibling! We sold our home and were moving into another one just before Ryker’s birth. One with a pool for the kids and a much bigger yard for a swing set and baseball games. Living the American Dream, so to say. Ryker was born via C-section at 37 weeks after a scare that my liver was enlarging and could be fatal to him or me. Looking back the pregnancy was different, although no one in the medical field was concerned. His heart rate was drifty; he was very small- alarming because his brother was huge; his kicks were weak and sporadic. I saw a high risk doctor- which basically means I had a lot of ultrasounds- of him, of his heart, all high resolution. I had a number of biophysical ultrasounds as well leading up to his birth and he always got a perfect score. There was no cause for concern.
Ryker was born on the morning on Saturday August 25, 2018 at Kent General Hospital in Dover, DE. My OBGYN came to work that day just to deliver him for us. Nothing seemed amiss in the Operating Room- he came out kicking, crying, eyes open- looking mad that he was disturbed from his warm spot. It was in the Recovery Room about a half hour later that things started to become concerning. He was chilly, even though he was laying on my chest under multiple blankets and a heat lamp. He was grunting a little bit to breath, but this was not unexpected given he was just barely considered full-term and didn’t alarm anybody. One of the nurses wanted the NICU to consult for his breathing, at which point somebody said to get a blood sugar on him because the NICU would ask for it. When the blood sugar reading came back at 13, everyone started to panic. Three nurses tried to get him to eat. He didn’t have any interest in breastfeeding so they got a vial of formula. After a lot of coaxing and positional changes, they finally got him to eat a few milliliters. By this point though, they literally did not wait for the NICU staff to come to the Recovery Room, they simply wrapped him in blankets and walked out of the room, across the hall and into the NICU.
By the time we were moved to the recovery floor and got down to see him, we found him on high flow oxygen, with an IV feeding line and sprawled out in his diaper under a heat lamp. As shocking as it was, nobody, including us, were overly concerned still. After a few days went past, his oxygen support level lowered a bit but he never seemed to wake up or gain temperature control. He started having jerky movements that were noted by the neonatologist visiting service from Christiana. The next morning, this same doctor came to see us in my recovery room and said she was more concerned about Ryker than yesterday and he needed to be transferred to Christiana for an EEG or MRI for possible seizure activity. Within an hour the Christiana Hospital NICU Transport team was there and Ryker was on his way to Newark. He was three days old. We decided to follow him to the hospital after a desperate phone call to my doctor to have me discharged early so we could be with Ryker. I remember walking all the way down to the parking garage and getting into the truck to make the drive north- vaguely thinking we probably should have stopped to get my pain medication prescription filled on our way out.
Ryker was still in the ‘intake room’ at Christiana Hospital NICU when we got there- still cold, still having heart rate drifts, still never awake. He was quickly set up for an EEG that stayed on for several days. His first night there I refused to leave the hospital, instead trying to sleep in the Ronald McDonald room on the unit so that we would be close if there were any problems. Plus, I was getting up now to pump throughout the night- perhaps vainly hoping that my breastmilk would make a positive difference for his recovery. We quickly discovered the 1970’s pull-out sofa was not going to work for a post- C-section mama. So while Brett tried to sleep, I sat in a recliner- still without pain medicine. In between my racing thoughts, I would get up and walk into Ryker’s ‘room’ and check on him. Imagine my surprise when I finally fell asleep only to wake up to a missed phone call from a NICU doctor saying something had happened with Ryker and to please call her when I got her message. This was particularly infuriating because we were staying on the floor- and the nurses knew that! Why had nobody knocked? I frantically rushed out to his bedside, where I was told that the neurologist had been monitoring his EEG from home and thought that he had been having seizures so they started him on an anti-seizure drug called Keppra. During this time, Ryker had rarely opened his eyes. When he did, his eyes jerked wildly with nystagmus and his little body flailed around with nearly continual, round the clock seizure-looking movements.
Because of his movements making an MRI (the next step) impossible, they decided to intubate him in order to sedate him to get an MRI done. The MRI showed nothing remarkable, nothing that would tell them what was going on. We sat down with the neurologist and NICU Chief Doctor to discuss what they were doing, what their plans were, and whether Christiana Hospital could help him or if we were spinning our wheels. Ryker seemed to be getting worse and nobody knew why. During one of these conversations, we were told they believed the worst case scenario to be a metabolic disorder- one in particular they were thinking of would be fatal in infancy. As shocking as it was, looking at how poor Ryker was and how his poor little body was struggling, it wasn’t a far reach to realize he could die. Looking back now with all of our medicalknowledge we’ve learned since, we know how bad it was because they agreed to let us hold him even though he was intubated.
We were told there were only two neonatal hospitals on the east coast equipped to deal with metabolic disorders- Children’s Hospital of Philadelphia or Boston Children’s Hospital. Point blank- we needed to go to CHOP. They decided to leave him intubated for the transport because it was safest for him- given his bradycardia events and desaturations. This all happened on Labor Day- Ryker was 7 days old. I remember sitting there holding him while we waited for the CHOP Transport Team to arrive. I remember that he seemingly kept trying to look at me but his eyes could never focus as they jerked around wildly. It seemed painful. It was heartbreaking to an unimaginable degree and one of my worst memories.
When the CHOP Team came, we decided that Ryker would ride up on his own and Aunt Sara (who happens to be a nurse at CHOP) would meet him there. We would follow in our personal vehicle because Brett wasn’t sure where he was going and driving in the city when you are from Sussex County, DE isn’t fun. I remember the first time we took the seemingly mile long walk from the parking garage to the NICU. I remember comparing how long the walk took compared to the walk at Christiana. That was a walk we would make at least twice a day for the next 6 weeks. Ryker was only at CHOP for hours before they determined that whatever was wrong with him wasn’t a metabolic disorder. The metabolic team was “unimpressed” with him- a term we would hear many times over the coming weeks. “Unimpressive” and “unremarkable” became good terms as specialists came and went as they tried to figure out what was wrong with him. His first diagnosis was myoclonus (seizure-like movements that weren’t seizures on his brain activity) and general encephalopathy of unknown origin. I remember asking one of the physician assistants what that meant- a fancy way of saying we don’t know. As the weeks went by not much changed. Some changes in his nasal tube feedings here. Some changes in the type of supplemental respiratory support they were giving him there. A lot of waiting. A lot of bloodwork. A lot of tests. We reached a point where all we wanted was to know what was wrong. To have a name for it. A reason for it all. As time went by and they checked bloodwork off their lists, we were told the cause was more than likely genetic. We were also told that most genetic conditions, if inherited, were inherited from the mother. Another tidbit of information that only added to our stressful times.
During this time we tried to take turns going back and forth to see our other son, who turned two at the end of December. We were hugely fortunate that my mother was able to drop everything and stay with him for 3 months. How are you supposed to balance a newborn in the NICU and a toddler at home? Both need your attention and there is a lot of splitting up that has to happen to give it to them both. Ryker was 5 weeks old before Chase was finally able to make the trip up to meet him. It was a long trip for a then 21 month old. We had always tried to FaceTime with Chase so he could see his brother and know where we were. He identified Ryker as “Baby Brother Ryker” and was so sweet when he finally met him in person. We tried to make a vacation of sorts of it, when we finally brought Chase up to Philadelphia. Aunt Sara had taken a few (more) days off from work to hang out with him so we could still visit Ryker as well. As the weeks dragged on in the hospital, we noticed changes in Chase. Changes we still don’t know how all of this will affect his mental, emotional and physical well-being as time goes on. Crying when he saw our suitcases or when we tried to drop him off at daycare. Crying for Grammy instead of us when he had a bad dream. Trying to teach him to play and interact with his brother, but not touch any of the cords coming out of his body.
Ryker was nearly 7 weeks old when we got a call from the social worker from CHOP’s NICU wanting to schedule a family meeting for that day. Family meetings were always bad. We had our fair share of them, and saw many other families have them as well. When we sat down in the cramped “reflection room” that afternoon it was packed with doctors, social worker and case management staff and nurses. While we held our breath, they told us some of the tests they had done had come back with a cause for Ryker’s symptoms. This test was actually a research study Ryker, Brett and I had been enrolled in so there were results for Ryker and us both. We had to sign paperwork saying we wanted to know our results- as it could impact our life insurance. However, we felt we needed to know because it could also impact Chase if he chose to have children as an adult.
They had identified a single genetic DNA mutation in all of our bloodwork, meaning neither Brett nor I were a carrier of any genetic mutations, cancer genes, etc. Ryker’s blood had come back with two letters missing from his PURA gene. Two letters. In thousands upon thousands of DNA gene letters, two were missing that caused all of this. It was known as PURA syndrome and it was rare. So rare, that the genetics doctor who gave us the diagnosis told us she had to look it up and had never heard of it. Less than 250 cases were known in the entire world. We now know this to be a “de novo” mutation- meaning it occurred “out of the blue” and was not inherited. As they handed us material printed out from the Pura Syndrome Foundation’s website, they told us what the symptoms were known to be: hypotonia, hyper somnolence, feeding difficulties, myoclonic movements mostly progressing into seizures, global developmental delay, probably will not talk, probably will not walk, the list goes on.
There was little talk of his future since there were too few cases to have any historical studies done or research known to indicate any of that. So in a way we knew what was wrong, but we really knew no more than we had before and are still left to wonder what the future will progress to be. At the same time we were relieved- relieved to know the trait hadn’t been inherited from either of us and it isn’t something we gave him by not being aware of our own genetics; relieved to know that there was nothing we did wrong or could have done to prevent it from happening and it was simply meant to be this way from the moment he was conceived; relieved that Chase would know he isn’t potentially a carrier if he chooses to have kids down the road. We remember everybody in the room sitting before us staring at us, waiting for our reaction. Brett was the first to gather his ability to speak, but his words echoed for both of us- we wanted to know what, why and how- and now we did.
My mind was racing though with thoughts of long term issues. Everybody in the hospital world continues to tell us to “take things day by day”. This logic makes us want to scream! While that may sound like a good thing to say, we assure you it isn’t- this is life and we need to prepare for the future. The reality is we are taking care of a child who will never be “raised” or “grown” and spread his wings or be able to take care of himself. Will he walk? Will he talk? Will he have friends? Will he know when people make fun of him? How will Chase handle all of this?
This blog is meant to have several meanings. The first of which is to let everyone who has any interest in Ryker’s story to follow him! Secondly, we hope that someday Chase and Ryker can look back in this blog and it can memorialize moments in time for them along the way. Lastly, it’s a therapeautic effort for us to be able to put into words and share things that may go on in our world. The medically complex/special needs world is a secret world. One which everyone knows exists, but unless you are in the trenches really know little to nothing about. This is our window for all of you!