After an uneventful second pregnancy, we were shocked when Ryker began having unexplained problems in the days after birth. First came the breathing troubles, then the inability to feed or wake, repeated low heart rate drops, hypotonia, seizure-like movements, etc. Unlike some other families with a PURA baby, we were somewhat fortunate to get an answer within weeks, where some have wondered for years. Ryker was diagnosed with PURA syndrome while at Children’s Hospital of Philadelphia. A true Rare Disease Warrior and medical zebra! At the time, there were less than 150 cases known worldwide. In the year since his birth, that number has more than doubled.
While his diagnosis and initial hospitalizations and transfers were undoubtedly some of the worst days of our lives, we feel fortunate to have an answer moving forward. “Moving forward” has meant 6 additional hospitalizations, endless doctors appointments and daily therapy at our home for speech, physical and occupational therapy. With his 2 year old brother and 2 dogs at home you could not begin to imagine the stressful circus that is our lives!
As we celebrate his first birthday, Ryker is just beginning to venture towards milestones most typically abled infants have already surpassed. He is getting medically stronger *knock on wood he hasn’t been hospitalized since Memorial Day*. He has his G-tube for feeding but has begun to eat small amounts of baby food a day. By small amounts we mean less than a medicine cup full. A swallow study is in his future to determine if he can safely eat/drink without risking aspiration pneumonia, but we have get him to a point of consumption high enough to do the test first. His reflux has improved exponentially over the past months, however his feeds still run over the course of 1.5 hours where the going rate is typically a standard half hour. He does not speak or make many sounds but he smiles and laughs a lot. He has head control when vertical and can occasionally roll from his belly to his back but has no interest in rolling onto his belly- quite a problem whenever his back and core muscles are extremely weak and need the most work! He cannot sit up unassisted but can be propped up in the corner of a chair to sit with his brother- a frequent big brother request! His grip strength is low unless he wants to grab daddy’s beard, then he is Hercules! He has around 8 teeth and loves his teething toys and anything crinkly.
The PURA Syndrome Foundation is AMAZING in the work that they have done and are doing in the short 5 years since PURA Syndrome was first discovered. We encourage everyone to donate to the cause in direct support of research that may someday benefit Ryker, either via their website or through the PURA Syndrome Foundation page or Amazon Smile! We have met some amazing other super hero PURA parents to share our journeys with and get ideas and suggestions from, but is everyone who is openly or secretly curious about Ryker’s progress and our daily adventures that we want to reach via this page. We all thank you for your interest and support!