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Pay It Forward

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  • 1. Monday, March 26, 12
  • 2. My son Jonah, has Sanfilippo Syndrome type C. An incurable genetic disease. I have chosen not to except his fate. JJB is well on it’s way to providing a treatment for Sanfilippo.Monday, March 26, 12
  • 3. There are 4 types of Sanfilippo:Type A: most common andmost severe. 1 in 200,000births.Type B: more common andvaried severity. 1 in 100,000.Type C: ultra-rare 1 in a million,less severe (Jonah.)Type D: least sever,1 in amillion.Monday, March 26, 12
  • 4. Diagnosis Jonah’s new pediatrician commented that Jonah’s head circumference “was off the charts.” Our doctor suggested an MRI. The results showed: -Signs of storage on his brain. -His skull is a bone deformity. Both findings were consistent of Sanfilippo Syndrome. Because of Jonah’s early diagnosis. My husband and I were able to hit the ground running. JJB was formed a few months later. Jonah is the youngest child to have ever been diagnosed with Sanfilippo type C.Monday, March 26, 12
  • 5. Sanfilippo children are missing an enzyme... This enzyme is supposed to breakdown a complex sugar molecule or “substrate.” The substrate stays in the body, killing cells. Causing brain damage and organ failure.Monday, March 26, 12
  • 6. We located the worlds most knowledgeable scientist of Sanfilippo type C. Called them up and asked them to help.Monday, March 26, 12
  • 7. A phone call later and our first ever Mouse Model- created with the missing enzyme, was underway. “Juniper” is a year old now and very sick.Monday, March 26, 12
  • 8. JJB, joined forces with families around the world. Together we started funding research.Monday, March 26, 12
  • 9. JJB held a conference last April. we brought scientists and parents from across the US and Europe. Together we came up with a plan of action.Monday, March 26, 12
  • 10. It Can be Done! -Our scientists know exactly what causes Sanfilippo. Many other diseases can’t say that. -We have identified several theories on how we can treat Sanfilippo.-Drug companies, won’t help. Our disease is to rare for them to make a profit. -It’s up to the parents to fund the science.-$10,000 would be a huge help for our children.Monday, March 26, 12
  • 11. Jonah could be the first Sanfilippo child to ever graduate from HS. For most kids the treatment won’t come fast enough. Kiesha passed away last winter, she was 16.Monday, March 26, 12
  • 12. Raising Awareness Due to the rarity of the disease- children go for years without a diagnosis or a misdiagnosis. Physical Features -The oval shaped head with protruding brow. -Thick coarse hair -Thick skin, full lips and ear lobes, wide flat nose. Early Symptoms speech delay, hearing loss, diarrhea, ear infections, hyper activity.Monday, March 26, 12
  • 13. “Pay It Forward” Children around the World need your help.Monday, March 26, 12
  • 14. Find On CausesMonday, March 26, 12
  • 15. Thank You!!!Monday, March 26, 12