Presentation for

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 and
most severe. 1 in 200,000
births.
Type B: more common and
varied severity. 1 in 100,000.
Type C: ultra-rare 1 in a million,
less severe (Jonah.)
Type D: least sever,1 in a
million.
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
Causes
Monday, March 26, 12

15. Thank
You!!!
Monday, March 26, 12