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Jjb presentation 3 aug2010

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  • 1. Wednesday, March 21, 12
  • 2. This is my son, Jonah.Wednesday, March 21, 12
  • 3. Jonah has Sanfilippo Syndrome Type C, also known as MPS III.Wednesday, March 21, 12
  • 4. JW What is Sanfilippo? It is one of the seven Mucopolysaccharidoses disorders. MPS disorders are a group of rare disorders caused by the deficiency of one of the lysosomal enzymes. The enzymes are responsible for breaking down specific complex sugar molecules. In the case of Sanfilippo, that sugar is Heparan Sulfate. Sanfilippo Syndrome breaks down into four subgroups: Type A, B, C or D. The type designates which of the enzymes the body is lacking or deficient in. Jonah has Type C.Wednesday, March 21, 12
  • 5. This is a very rare disease. It is believed that the occurrence of Sanfilippo Syndrome is: Type A: 1 in 114,000 live births Type A is the most common and the most severe. It therefore receives the most research funding. There s currently a drug trial underway for Type A. Type B: 1 in 211,000 live births The severity of Type B varies greatly from child to child. Type B has just this year started to make great strides in research, with a potential trial happening in the near future. Type C: 1 in 1,407,000 live births Type C is extremely rare and has a slower progression. With the help of foundations like ours, there is research starting now. Type D: 1 in 1,056,000 live births Type D is so mild that individuals are usually not diagnosed until their late teens. There has been little to no research done for Type D. Sanfilippo Syndrome - all types combined - accounts for 1 of every 70,000 live births.Wednesday, March 21, 12
  • 6. This disease is considered a storage disease. The body stores the Heparan Sulfate in its cells, because the enzyme is not there to do its job of breaking it down. When the Heparan Sulfate builds up in the body it becomes lethal and starts to kill off cells. This eventually causes damage to all the body’s major organs, bones and central nervous system.Wednesday, March 21, 12
  • 7. JW What happens to a child with Sanfilippo? Most children are born with no visible signs of the disease. It’s not until the preschool years that children start to present delays. The most commonly noted delay is in speech. Sometimes this is due to a build-up of fluid in the middle ear; other times it’s an indication of brain damage. After the child continues to lag behind his peers, usually professional help is sought. It’s very difficult to diagnose Sanfilippo; a doctor must know to test for it. He or she can only do that if they are educated on the signs of MPS. Most doctors have never seen a child with MPS. Therefore it is common for a child to be misdiagnosed for years.Wednesday, March 21, 12
  • 8. Jake, age 3 What to look for: • Developmental delays • Constant ear infections • Frequent diarrhea or very soft stool • Upper respiratory infections • Gelatinous mucous • Brittle teeth • Minor bone deformities: large head, prominent forehead, flared ribs • Ankle colonusWednesday, March 21, 12
  • 9. Physical appearance: “Coarse features” — a medical term describing MPS kids: • Thick skin • Broad/flat nose • Full lips • Big ears • Thick hair (The older the kids get, the kinkier their hair becomes. It often grows on the back of the neck and upper lip.) • Bushy eyebrows The three Burke sisters all have Sanfilippo Type C, the same as Jonah. Jesse, age 15Wednesday, March 21, 12
  • 10. Kids of Team Sanfilippo (clockwise from top left): Will, age 7 Matthew, age 9 Hanna, age 6 JarredWednesday, March 21, 12
  • 11. Sanfilippo is progressive and breaks into three stages. FIRST STAGE: The child will start to present delays. He will be frequently sick with ear infections, upper respiratory sicknesses, and diarrhea. SECOND STAGE: The child will become extremely active and suffer from sleeplessness. He will begin to exhibit behavioral issues consistent with brain damage: • Compulsion to chew on things • Compulsion to grab at things or people • Temper tantrums • Random fears or no fears • Screeching The child’s health will start to decline: • Heart problems • Bone deformities • Liver damage • Loss of speech, hearing and sight • Trouble breathing and eating • Excessive cavities • Trouble walking LAST STAGE: Loss of speech, motor skills, ability to eat on his own, and ultimately death.Wednesday, March 21, 12
  • 12. Where does Jonah stand in all of this? Jonah appears to be very happy and healthy. By all accounts, he is. He has had tubes placed in his ears to drain excess fluid; this has helped with his speech development. He has some slight bone deformities: • His skull • Vertebra • Rib cage He has ankle colonus. Soft stool/diarrhea He has storage spots of Heparan Sulfate on his brain, but so far no brain damage. Jonah is bright, articulate, affectionate, social and adventurous. He is the light of our lives.Wednesday, March 21, 12
  • 13. JW Our mission First and foremost: RAISE AWARENESS. We need to identify the other children with Sanfilippo Type C. It’s up to all of us to educate ourselves on the signs of this disease and inform others. Second: COMPLETE A NATURAL HISTORY STUDY FOR TYPE C. For this, we need the other Type C children. This study will track the progression of the disease, and become the foundation of a future drug trial. Third: WE NEED TO FUND RESEARCH THAT WILL BENEFIT TYPE C. When we have accomplished these three tasks, we will have saved Jonah’s life.Wednesday, March 21, 12
  • 14. This is where all of you come in. I can’t do this alone. I’m counting on word-of-mouth to help us locate other Type C children. • Forward our website, Facebook page, YouTube and Twitter sites on to others. • Download our story and take it to your doctor’s office. Leave it in the waiting room. • Take our brochure and give it to your children’s therapists, doctors and social workers. Donate. Your generous donations will be put to great use: • By helping families in crisis who need help with travel and medical expenses. • To help us develop and distribute educational materials. • By funding the research that could save Jonah’s life. Please, help us. This is your chance to be a part of history. With your generous donations, you can help save Jonah and countless others. These treatments are just a few years away from a clinical trial. With any luck Jonah will just make the cutoff to be part of a trial, and he will be the first child to ever live through this disease.Wednesday, March 21, 12
  • 15. JW Foundation accomplishments Jonah was first diagnosed in May, 2010. In just a few short months, we have done so much. We have located researchers with the means to save Jonah. They need funding ASAP. We have a team of brilliant doctors at Columbia Hospital in NYC. They will: • Help us find researchers • Host patient meetings • Assist us to facilitate a clinical trial • Offer advice with grant proposals We have located a doctor to complete our FDA-approved Natural History Study for Type C. We have teamed with the JLK Foundation and are working together to find the other Type C children. We are working with Team Sanfilippo to help finance an “off-label” drug trial.Wednesday, March 21, 12
  • 16. Our website - jonahsjustbegun.org - is up and running, and ready to provide you with the tools you need to help us accomplish our goals.Wednesday, March 21, 12
  • 17. Thank you.Wednesday, March 21, 12
  • 18. JWWednesday, March 21, 12