What a fun little birthday party with special friends for a special little 2 year old! There was a time when the chief NICU doctor told us they didn’t expect him to survive. He has come so far in those 2 years thanks to the hard work of so many in his little village, but most of all him and his drive to work hard and do big things. It’s a different life than we envisioned but he and big bro are making lemonade together 💙
Just some brotherly shenanigans before bedtime last night 💙💙💙
Look at this little handsome dude painting with big bro!😍 Bro might have done all of the actual painting but think about the dexterity and coordination it takes to hold a paint brush. Something most of us never give a second thought to being able to do is exhausting and challenging for Ryker. We are so proud of him! 💙💙💙💙💙 He was pretty proud of himself as well 😁
What a powerful speech by a wonderful PURA parent! We hope you will take the time to listen/watch and truly grasp the magnitude of the life-altering idiosyncrasies that come with being thrust into the great unknown as a PURA family. Our PURA little falls into the ‘newly diagnosed as an infant’ category, but oh how we could sit and ponder what it would be like to NOT know. Our own perspective has continued to change in the short 20 months we have been a part of the Parents of PURA family. There are ups and downs, good and bad days, and life is quite fluid in unexpected ways. There are amazing PURA parents out there, including the one giving this Tedx talk. We are blessed to have the support system that being a ‘member’ of the Parents of PURA family has brought us. However, Ryker could use EVERYONE’s support. Listen to the video for some great examples of how!
We have neglected to update Ryker’s website posts in much too long! Facebook is definitely an easier platform for us to hop on quickly to post a photograph or short video, but we promise to get better on here 🙂 We have all been staying healthy and making the best of every day. We have been making late night or early morning grocery runs as needed and the kids have not been going with us. Both mom and dad still work so there are extra precautions being taken to keep illness out of our house. Luckily the spring weather has brought some more opportunities to get outside, which has been refreshing.
Ryker has been enjoying quarantine life we think…Granted it isn’t very different than his typical daily life- avoiding germs, respiratory illnesses and any other diseases he would be at an increased risk of vulnerability and severity. He keeps a small circle 🙂 He has also been enjoying more time with big bro, who is not currently attending his early learning center. It is obvious that Ryker tries much harder to stay awake and engaged with big bro is around, though he remains hyper somnolent it has gotten less severe over time. The weather has still been a little chilly for Ryker to spend nearly as much time outside as his brother. The wind continues to big a huge hurdle for Ryker, as it has for other PURA kiddos we know of. He simply isn’t a fan of the slightest breeze blowing in his face. Gusty winds bring out sheer terror. Oddly enough though, he likes his swing!
The past month has brought a lot of new sensory adventures for Ryker. He has tried his first Reese’s peanut butter cup, dug his hands into water beads and touched a centipede. He is agonizingly close to being able to sit up unassisted but is still a tumble risk. Tummy time always goes better when you have big bro to capture your attention. His therapy sessions have moved to video conference. It is nice to have the dedicated time to work on these things, but holding an Ipad in a manner the therapist can see Ryker, holding Ryker up in any position and keeping big bro entertained is only possible to a certain extent and some days go better than others. Big bro loves to ‘help’ but understandably, especially at his age, he sometimes wants attention all for himself as well and loses interest before the session is over. It is definitely a two-person job!
Rare Diseases and conditions not only impact individuals, but families and communities. Each person diagnosed with a rare condition is supported by friends, family, caregivers, therapists, social workers and medical providers.
Meet Chase, Ryker’s big brother…
As a newborn, Ryker stayed at a NICU several hours away. We were hugely fortunate that my mother was able to drop everything and stay with Ryker’s 21 month old brother, Chase, 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 that 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.
As the weeks dragged on in the hospital, we noticed changes in Chase. We still don’t know how all of this has affected his mental, emotional and physical well-being. Crying when he saw out 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.
Big Brother Chase is resilient though and loves his brother dearly. He just celebrated his 3rd Birthday a few days ago. He had a big party at the house but little bro hid in his room to stay away from yucky germs. Ryker is 17 months old. This year was the first year we felt we could have a holiday as a family of four, as last year we had just gotten Ryker home from his first of many PICU stays the day before Christmas and we were just exhausted. This year Chase was so thoughtful… he would open one of his presents and ask us to put it together, take the tag off, cut it out of the box, etc and Chase would say oh now I can open a present for Ryker! He was so sweet to open them, show them to him, try to help him hold onto it. He is such a wonderful big brother to Ryker.
If you are interested in supporting the PURA Syndrome Foundation during the month of February or in making a donation in honor of someone #PURAPerfect in your life, please consider a donation
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 https://purasyndrome.networkforgood.com/…/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