Author: bmorris1260

We bought the swing last year in hopes of being able to use it, however due to Ryker’s severe hypotonia he wasn’t strong enough. With some persuasion from big bro – it looks like this year it’s going to be a hit!

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World Rare Disease Day is not just about awareness, but also advocacy. The theme of Rare Disease Day this year is “Reframing Rare: Rare is Many, Rare is Strong, Rare is Proud.” Rare Disease is actually not all that rare. Over 300 million individuals live with a rare disease and 1 in 10 individuals will be diagnosed with a rare disease in their lifetime. Yet, patients with rare disease are not always treated equitably and systemic barriers exist making it difficult to obtain necessary care, treatment and resources. All month, we have been sharing about #PURAPerfect Ryker and his family. Today, we wanted to share how everyday people are making a big difference in the fight for equitable care. Above is a photo of Ryker’s dad, Brett, Testifying before the State of Delaware Finance Committee in March of 2019, advocating for funding and increased wages for home health skilled nursing in the State. #ShowYourStripes #AloneWeAreRare #TogetherWeAreStrong

See more about Ryker’s story under the “Ryker’s Story” tab on the http://www.Rykers-Rally-Point.com homepage!

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We have been learning a lot about Ryker, a #PURAPerfect 17 month old, who was diagnosed with PURA Syndrome at 7 weeks old. His family is proud to report some of his current accomplishments and milestones:

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At 17 months old, Ryker can ‘prop sit’ now for several minutes. He has head control for the most part and loves if you carry him around the house on your hip so he can see the sights. We are working on finding a suitable baby carrier that would be supportive enough for him while allowing him to enjoy walking around. He has a stander and Scooby Doo AFO braces that he uses for short periods most days. With the help of his AFOs and his physical therapist, he recently began to stand supported.

He has started voluntarily weight bearing (to some extent) on his legs when Brett picks him up on his chest to play. This is a huge deal because previously he would only keep his legs up in the ‘frog legged’ position if you picked him upright. He has a feeder seat and a wheeled base we use daily. The base is a perfect height for Ryker to interact and play with his big brother. We also take the seat off and attach it to a dining room table chair so that he can eat dinner with us. He has a G-tube and has just begun working on “chewing” food- he loves his banana milkshakes which are really Elecare Jr. banana flavored formula mixed with some rice. He eats small amounts of avocado, cheese puffs, applesauce, mashed potatoes, all kinds of baby food, fruit of all kinds, and carrots from the crockpot. Just the other day he successfully grabbed both a pretzel and a cheese curl off of the tray of his new highchair AND got them in his mouth- invoking both panic and cheering from mommy and daddy! He also shows a strong interest in the spoon and anticipates getting food in his mouth!

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

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World Rare Disease Day is just 4 days Away! We Hope you will join the PURA Syndrome Foundation in raising awareness for PURA Syndrome and other rare conditions.  Please consider sharing some of Ryker’s story, #ShareYourStory, and #ShowYourStripes on February 29, 2020. 

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World Rare Disease Day is approaching on Saturday, February 29th, 2020 and we continue raising awareness for PURA Syndrome by focusing on Ryker’s story:

Ryker was nearly 7 weeks old when we got a call from the social worker from the Children’s Hospital of Philadelphia’s (CHOP’s) NICU wanting to schedule a family meeting for that day. 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.

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 Ryker’s brother, Chase (then 2 years old) would know he isn’t potentially a carrier if he chooses to have kids down the road.

After leaving that meeting room we went right back to sitting with Ryker. I remember holding him and trying to stop crying for what seemed like hours. I remember all of those same doctors and personnel making personal appearances in our room after the meeting broke to offer their own words of encouragement. Of everything that was said, we still carry a few things with us from those personal talks. Namely, it is okay to grieve the life we thought we were building and the son we wanted to have. it didn’t make us bad people or mean we weren’t going to make a new best life possible. It was a necessity to grieve in order to move forward. He was still our son and we will do everything possible for him for eternity. (To be continued…)

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We hope you will join us in sharing your #PURAPerfect story (#ShareYourStory). #ShowYourStripes on Rare Disease Day, Saturday, February 29th, 2020. Ryker’s story highlights the need for continued research into this rare condition, as well as the need to support and educate families and medical providers. To support Ryker, and more than 350 individuals with PURA SYndrome worldwide, please consider a donation to: https://purasyndrome.networkforgood.com/…91062-world-rare-…

#raredisease #rarediseaseawareness #purasyndromeawareness #RareDiseaseDay #WorldRareDiseaseDay #AloneWeAreRare #TogetherWeAreStrong #RefraimingRare #rareismany #rareisstrong #rareisproud #advocacy