TSXV:BTI.H - Post by User
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TechnicalBuyon Aug 22, 2011 11:22am
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Post# 18966620
What would a bbb breakthrough really mean
What would a bbb breakthrough really meanHere's another example of the bbb getting in the way of good medicine and impact it has on Logan...read below....half way through they say the bbb is an obstacle...TBFamily hopes to bring awareness to rare genetic disorderBy: Jeff StenslandA local family hopes to shed some light on a rare disorder that could take their son's life.Four-year-old Logan Pacl was diagnosed with Sanfilippo syndrome when he was two.His parents began to notice that Logan was developing at a different pace than his twin brother Austin."We had no idea what was going on,” Logan’s mother Noelle Pacl said. “We started speech therapy because he wasn't talking. Then we noticed he was having balance issues, so we started physical therapy."It took a geneticist to diagnose Logan with the genetic disorder Sanfilippo syndrome."The whole time I was talking to her, I thought, 'OK, we'll fix it. It can be fixed.' Then, at the end, she said that it's terminal. There's no cure," Logan’s mother said.Sanfilippo syndrome affects 1-in-70,000 kids. It keeps their bodies from producing an enzyme needed to process sugar."Their body pretty much deteriorates and their mind. At the end stages, you can compare it to Alzheimer's,” Noelle Pacl said. “They forget how to speak. They forget how to eat, so they end up with feeding tubes. They forget how to breathe."The Pacl family turned to an experimental treatment at Duke University last year.Logan received a stem cell transplant, but they have yet to break through the blood-brain barrier."He will have a longer and a little bit healthier life physically, but we're still not sure what's going to happen neurologically,” his mother said.