pay it forward

Monday, March 26, 12

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.


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.


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.


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.


.

We located the worlds most knowledgeable scientist of Sanfilippo type C. Called them up and asked them to help.


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.


JJB, joined forces with families around the world. Together we started funding

research.


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.


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

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.


Raising AwarenessDue 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 Symptomsspeech delay, hearing loss,

diarrhea, ear infections, hyper activity.


“Pay It Forward” Children around the World need your

help.


Find On

CausesMonday, March 26, 12

Thank You!!!


pay it forward

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