On January 18th, 2018 Michelle and Andy Knorr welcomed their 4th child (Ryan Knorr) into the world and were released from the hospital Saturday, January 20th. The Monday following, they brought Ryan to the doctor for his first routine well check. What usually is a triumphant and proud parent moment (1st doctor's visit), quickly turned into a parent's worst nightmare! Michelle and Andy did not get the expected, "He looks fantastic; congratulations Mom & Dad!", instead Ryan and family were hustled into an ambulance headed straight for Charlotte's Levine Children’s Hospital. Ryan's temperature had dropped from the normal 98.6 degrees to a hypothermic temperature of 92.1. Absolute panic!! What was happening to baby Ryan??
Ryan's bilirubin level was way up... he was wrapped in warm blankets, put under bili-lights and treated for severe jaundice. Pheww, Ryan and family would be coming home from the hospital in a few days! Not so fast...Things just weren't adding up! Ryan's bilirubin level was not coming down as quickly as they had hoped, he was having issues feeding, his liver tests came back abnormal and he was still struggling to hold his own temperature! These were not good signs... Ryan was suffering from something far greater then jaundice. But what was it? Days turned into weeks as the doctor's at Levine worked feverishly to uncover Ryan's medical puzzle.
Ryan's hospital visit, turned into a month stay... Finally they had a diagnosis! Ryan Knorr was diagnosed with an extremely rare genetic disorder called Pura Syndrome (only ~280 people globally have been diagnosed). PURA primarily associated with neurodevelopmental abnormalities is expressed in all tissues of the body including the brain, muscle, heart and blood and has severe implications to the development of the brain. (Please read more about PURA below).
What’s happening now?
Due to the severity of his diagnosis Michelle has had to leave her job of 6 years to provide round the clock care for baby Ryan. Since his diagnosis, Ryan stopped breathing and was rushed to the ER. He received CPR, and was hospitalized for a serious bout of pneumonia. After a week stay at Levine, he was released and is continuing to recover at home. In the weeks, months, years ahead Ryan will undergo various therapies including, physical, speech, cognitive, occupational, etc. He will be put on lots of different medications and will likely be hospitalized many more times. Ryan and family have a difficult journey in front of them, but are doing their best to try to adjust to their new normal. And with your love and support we can help them get through some of the initial challenges.
With the significant loss of income, our first goal is to...
- Help cover the costs of mounting hospital bills,
- And help them get back on their feet financially
Please join us in sharing their story and donating to help support the Knorr family and precious baby Ryan.
Every little bit helps. Even small donations will make a big impact.
Thank you in advance!!
The Anselmo & Leigh Families
Synonyms of PURA syndrome:
- PURA-Related Neurodevelopmental Disorder
- Mental retardation, autosomal dominant 31
Complications of Pura Syndrome include:
- Moderate to severe intellectual disability; most remain non-verbal, with severe motor and language delay
- Hypotonia (severe muscle weakness); most do not acquire independent walking
- Difficulty feeding, excessive drooling and swallowing problems; often requiring nasogastric or gastric-tube feeding
- Epileptic seizures; can be chronic and medicine resistant
- Hypersomnolence (excessive sleepiness)
- Constipation, chronic hiccups, excessive startle reflex and movement issues
- Temperature instability
- Peripheral neuropathy
- Central and obstructive apneas; individuals with PURA syndrome are at increased risk of aspiration pneumonias
- Progressive hip joint problems and scoliosis, congenital hip dysplasia, osteopenia (lower than normal bone density), vitamin D deficiencies and bone fractures
- Erin Johnston
- Kim Casey
- Tate Kiser
- Renee Pillor
Organizer and beneficiary
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