Build up to Rare Disease Day

In the following 10 days leading up to World Rare Disease Day 2020, the PURA Syndrome Foundation has selected Ryker and fam for a “Spotlight on PURA” mini-series of articles aiming to raise awareness and fundraising efforts for PURA Syndrome.  The original posts can be found on the PURA Syndrome Foundation’s Facebook page, so feel free to follow along and “Like” the Foundation page!   In the interest in reaching people who may not be Facebook followers, we will be copying the posts into posts right here on Ryker’s Rally Point for all to see! #WeLoveSomeoneRare #PURAPerfect #RareDiseaseWarrior #ShowUsYourStripes

Post #1 (Birth)

We are just two short weeks away from World Rare Disease Day on Saturday, February 29th, 2020.  The PURA Syndrome Foundation has been working with families over the last year to increase awareness of this ultra-rare genetic condition.  Over the next two weeks, we will introduce you to Ryker, his big brother, Chase, and his parents, Brett and Amanda.  Brett and Amanda have generously agreed to share some of their journey in order to bring awareness to PURA Syndrome and other rare diseases for World Rare Disease Day.  If you are interested in making a donation in honor of Ryker or in support of your #PURAPerfect loved one, please consider a donation at…/91062-world-rare-…

Ryker was born on the morning of 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, everybody 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 that 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 another hospital.  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 another hospital for an EEG or MRI for possible seizure activity.  Within an hour the NICU Transport Team was there and Ryker was on his way.  He was three days old.  We decided to follow him 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. 

When we arrived, Ryker was 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 this 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 medical knowledge we’ve learned since, we know how bad it was because they agreed to let us hold him even though he was intubated.  (To be continued…)

#PURATribe #PURAFamily #raredisease #rarediseaseawareness #purasyndromeawareness #RareDiseaseDay #WorldRareDiseaseDay #AloneWeAreRare #TogetherWeAreStrong #ReframingRare #rareismany #rareisstrong #rareisproud #advocacy

Leave a Reply

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s