Jill Wood is a very dear friend, patient & Park Slope neighbor. Her story is about her brave and relentless fight to save her son's life. When Jonah was just shy of 2 years old he was diagnosed with a fatal genetic disease that is so ultra-rare that there are only 20 cases known in the US. After the diagnosis, Jill took immediate action and started a foundation in his name, Jonah's Just Begun, to help create awareness and advance the science. Jill needs our help now more than ever as she perseveres to find a cure before it is too late for her son and the other children and families suffering from it. Want to make a difference today? Buy tickets for your family to attend her upcoming Halloween themed fundraiser October 28th, right here in Park Slope!
SSP: Before we learn more about your son’s rare disease and your organization, can you please tell us about your upcoming Halloween fundraiser and why we all need to attend?
The Little Gingerbread House of Horrors is a Halloween themed fundraiser. This year’s theme comes from Hansel and Gretel meets Candyland. The event will take place October 28th from 12-2pm at Shapeshifters Lab in Brooklyn NY. There will be lots of activities for the kids: crafts, face painting, food, music and dancing. Come dressed and hopefully win a prize for best costume. Parents give your kids a fun and wholesome time, while you peruse our awesome raffle baskets. Enjoy a cocktail with friends, you can even dance if you want to. Don’t be scared - there is fun for everyone at the Gingerbread House of Horrors.
A huge thanks to our sponsors: South Slope Pediatrics and The Park Slope Day Camp!
SSP: How did Jonah’s Just Begun come to be?
Jonah was born July 30th, 2008, happy and healthy. Jeremy and I couldn’t take our eyes off of our remarkable son. He was our first child and his birth changed our lives. Jeremy remarked to his father that it felt like his heart had doubled in size, making room to hold all the love he felt for Jonah.
We were living in bliss with our little boy, dreaming of the years to come and all of the wonderful experiences that we would have together as a family.
At Jonah’s ﬁrst-year well visit our astute pediatrician, Dr. Hai Cao, suggested we get Jonah an MRI. Dr. Cao noted that the size of Jonah’s head was “off the charts.” Nine months later, Our geneticist gave Jeremy and I the news that changed our lives a second time: Jonah had Sanfilippo Syndrome Type C, a rare genetic disease that is both fatal and untreatable.
When I asked our geneticist if this meant a death sentence for Jonah. She paused for a very long time, my heart sank. She came back and said: “Today there are treatments thought impossible just five years ago.”
That is exactly what we needed to hear to give us the strength to fight Jonah’s fate.
Do to the rarity of Jonah’s syndrome there was not a single research program happening at the time of Jonah’s diagnosis. My husband and I found this unacceptable. Jeremy and I reached out to every resource that we had, forming Jonah’s Just Begun-Foundation to Cure Sanfilippo Inc. We started fundraising and searching for scientists that would help us.
SSP: What exactly is Sanfilippo and how are children affected?
Sanfilippo Syndrome is a genetic disorder. My husband and I are both carriers of the defective gene that causes Sanfilippo Syndrome. We both passed our defected gene to Jonah. There isn’t newborn screening for Sanfilippo Syndrome and there was no way of knowing that we were carriers. Because of this defective gene, Jonah’s body is unable to produce an enzyme, this enzyme’s job is to breakdown and recycle a molecule called Hepran Sulfate (HS). Because of this defect, HS is left to clog every single cell in the body.
SSP: What happens to a child with Sanfilippo Syndrome?
Sanfilippo is an insidious disease that often goes undetected for years. Most children are born with no visible signs that anything is wrong. It’s not until the preschool years that children start to show cognitive delays; even then, the disease is often misdiagnosed. It is most commonly misdiagnosed as Autism.
Sanfilippo is progressive and can be broken down into stages. Some describe Sanfilippo as a childhood Alzheimer’s.
First stage: The affected child presents with: delayed speech, hyperactivity, impulsivity and behavioral issues. Sanfilippo children have distinctive facial features, you must be trained to notice them: prominent forehead, bushy eyebrows, coarse hair, thick skin, short neck, full lips, low thick ears, a wide flat nose. Their facial features are described as “coarse.” Affected children are prone to sinus and ear infections, diarrhea, and minor muscular skeletal issues. The problems associated with Sanfilippo are vast and varied.
Second stage: The affected child will become extremely active, restless, suffer sleeplessness and exhibit difficult behavior. Many children are compelled to chew on things, grab at people or items. Some children have seizures others have visual and hearing problems. Over time, speech and communication skills decline along with other cognitive and motor skills.
Third stage: The disease will take its ultimate toll. The child will lose the ability to walk, talk and eat on his own while his body shuts down. Death may occur as early as the age of five. More common, however, are children that live into their early teens, with some surviving into their twenties.
SSP: How rare (or ultra-rare) is this disease and is there a treatment?
A rare disease is defined as having a patient population of 200,000 or less. Jonah’s version of Sanfilippo only has 20 known patients in the United States, the current known incident rate is 1 in 1.5 million. Sanfilippo Syndrome is considered ultra-rare.
SSP: What is the current research?
JJB along with our consortium: H.A.N.D.S. made up of international medical research foundations like JJB have funded over a million dollars towards a treatment. Our gene therapy program is ready to go to trial. The only thing stopping us is funding for the vector production for a human clinical trial.
A handful of Mom and Pop foundations have funded a treatment that once had no hope all the way to the point of clinical trial. We could have never gotten this far without the generosity of others. Now we need a financial partner to help with manufacturing of the drug and the finances of a clinical trial.
SSP: What is next/what can you share with us?
There is still a lot of work to be done. We need to complete our Natural History Study (NHS) a NHS follows the progression of a disease by collecting medical data from the patients that suffer from the disease. Our Natural History for Sanfilippo type C and D is being conducted at the Montefiore Children’s Hospital under the direction of Dr. Paul Levy. 20 patients will come to NY for two days of testing, one day will be spent at Montefiore where the children will undergo a battery of tests, involving bloodwork, MRI, E-Xrays, Ultrasound etc.
The second day the children will participate in cognitive testing at the Albert Einstein Medical Center under the direction of Dr. Sophie Molhom. Dr. Molhom’s testing is not covered by insurance, each day of testing for each child is $1,000. That’s $20,000 a year, this study will happen for five years. This study is vitally important as the data will provide proof to the FDA that our gene therapy is working.
SSP: What is needed NOW and how can we help support you?
We need to raise funding to cover the cognitive portion of the NHS that is not covered by insurance. $1,000 per child per year.
One way you can help support is to come to our upcoming fundraiser: “The Little Gingerbread House of Horrors” You can purchase tickets http://bit.ly/GingerbreadHouseofHorror
If you can’t make it to the event you can help by supporting our raffle and auction tables.
Purchase an item from our amazon gift list and it will be re-gifted into themed baskets for raffle prizes. https://smile.amazon.com/hz/wishlist/dl/invite/46wCYyd
Lastly, we can always use volunteers to help set up and take-down the day of the event. The set design for our life-sized gingerbread house event will take a lot of manpower to construct.
Dr. Sanjay Gupta on CNN interviewing Johnny Lee Miller: