Meet Jill Wood, South Slope neighbor and a very dear close friend of Dr. Cao and Matteo. Twelve years ago, they found out that their baby boy, Jonah, was diagnosed with a fatal rare disease, Sanfilippo Syndrome. Dr. Cao was instrumental in his early diagnosis, and as Jill says, this early diagnosis gave Jill and her husband Jeremy a chance to fight for Jonah’s fate. Because the patient population is so small, it is up to Jill and other parents, through grassroots fundraising, to drive and fund research. So this holiday season, we ask that you consider fighting alongside Jill, and that means considering a donation to help fund gene therapy and making it available to the world.
SSP: For those readers who are not yet familiar with your story, can you please tell us about your son Jonah and the rare disease he was born with, and your connection with Dr. Cao?
Unbeknownst to us, Jeremy, and I are carriers of a genetic syndrome called Sanfilippo subtype C. As carriers Jeremy and I both passed down our damaged gene to Jonah. We had no reason to suspect anything amiss at birth and he continued to develop normally. A little on the overactive side, horrible sinus infections and a big head. Nothing uncommon for a one-year-old. On Jonah’s first year well visit we saw Dr. Cao; Dr. Cao made the observation that Jonah’s head circumference was off the chart. He suggested that we get an MRI just to rule out hydrocephaly. We made the appointment and then continued with our lives as nothing out of the ordinary was happening. Sorry, I am going to fast forward 10 months. It is a gorgeous day, I’m feeling in the Holiday spirit, and I really don’t feel like ruining my day by describing what happened. Just one sentence on the diagnosis. Jeremy and I were informed that Jonah had a genetic syndrome, it was terminal and there was no treatment. For the big picture check out my company’s website: https://www.phoenixnestbiotech.com
SSP: When we last spoke to you 2 years ago, Jonah was eleven....so that means he is now a teenager! How is he doing today?
Jonah is a teenager on the outside, but he is still a little guy on the inside. Jeremy often takes Jonah to the playground by our house. Jonah absolutely adores interaction with other children. The playground is the best place for him to interact with other kids. Playing chase or hide and seek doesn’t take a lot of communication or cognitive function.
Park Slope has a reputation for being an inclusive neighborhood. If you see Jeremy and Jonah running around the playground playing tag don’t be too shy to say hi. Inclusion also includes people with physical and mental disabilities. Kids learn best from their parents, get in there and show your child how inclusion works. Feeling accepted in your community makes for a better life and a better place to live.
Jeremy and I are thrilled with how well Jonah is doing, his physical health is stable, and he continues to learn. We are very lucky parents, most 13-year-old children suffering from Sanfilippo syndrome have lost their speech and are beginning to lose their mobility by thirteen. Jonah continues to defy his fate.
SSP: Having joined forces with the Cure Sanfilippo foundation a couple of years back now, how have things progressed in terms of the gene therapy drug you have been proposing?
I had to accept that I could not run both a not for profit, Jonah’s Just Begun (JJB) and my biotech, Phoenix Nest, something had to give. JJB was focused on fundraising for the research to treat Sanfilippo subtypes C and D. My counterparts at the Cure Sanfilippo Foundation focus on raising funds for types A and B. It made perfect sense to join forces with Cure Sanfilippo Foundation. Our gene therapy program, JLK-247 thrives with funding from the Cure Sanfilippo Foundation, made possible by donors like yourself.
As you can imagine the road to creating a treatment for ultra-rare diseases is paved with obstacles. More than I can explain here, perhaps I might write a book one day. One obstacle is the FDA, not in a bad way, I just learned the hard way. I should have presented my proposed route of administration to the FDA before embarking on one very expensive and time-consuming sheep study. The FDA was apprehensive about our Route of Administration (ROA), which was direct injections into the brain. We also doubled up by adding a second ROA, a convection enhanced delivery, i.e., we proposed to add a shunt that would deliver another small dose of vector over the top of the brain. The FDA wanted us to go back and split out the two delivery methods in yet another animal study. Their rationale was that if there was an adverse event (AE) in a child that they’d like to have a better idea of which ROA might have caused the AE. Makes sense. During that time new research had shown that intrathecal lumbar injections would likely get enough vector into the brain to halt the disease. So, we decided to switch things up and go with the less invasive ROA, which makes everyone happier. We’re now in the final stages of testing that route. We also took the opportunity to beef up our vector with new technology. At the end of the day there might just be a silver lining to having to go back and do more studies. Our most recent interaction with the FDA has been very positive.
Phoenix Nest is working with another not for profit organization called the Columbus Foundation, founded by the gene therapy guru, Jude Samulski. The Foundation is brokering a deal to have our vector manufactured at cost, which is saving us millions! The Cure Sanfilippo Foundation created a fundraising campaign to help pay for the manufacturing of JLK-247. If you feel so inclined, you can donate here. https://www.gofundme.com/f/saveconnor
SSP: You have been pioneering the needs of all rare diseases, having spoken in Congress multiple times, raising awareness and the necessity to get federal dollars allocated to research. Where is that conversation today?
Time flies by! I cannot believe all the places I have been drumming up awareness demanding equality for federal dollar allocation to ultra-rare disease research. I am happy to say, it has paid off. We always need more; our next goal is to have our federal government create a rare disease center at the National Institute of Health. If you ever want to join in check out the EveryLife Foundation. One program enacted by our government that is of no cost to taxpayers is the Priority Review Voucher (PRV) program. The vouchers are just a piece of paper, a ticket that you can sell to the highest bidder. JLK-247 meets all the requirements to win one of these tickets all I must do is receive FDA approval for JLK-247. Which I eventually will. The PRV is for companies like Phoenix Nest that are trying to develop drugs for treatments that are not financially viable. I can leverage the PRV program to incentivize a larger pharmaceutical company to help us produce, manufacture, and distribute JLK-247 so that the rest of the world can have the drug. The PRV gives pharmaceutical companies a shortened review period with the FDA by 4 months. I know 4 months doesn’t sound like much but when you’re competing with another company with what you know is to be a block buster drug, those 4 months could get you over the finish line first and give you 7 years of market exclusivity. Ca-Ching.
There are only twenty known patients in the United States with Sanfilippo syndrome type C. No company would have taken this on, when there are thousands of other rare diseases without treatments, with patient populations of up to 2,000 to choose from.
SSP: For those who have not met Jill, she is a fighter like no other. To say she is committed to this cause and fighting day in and day out doesn't do it justice. For those of us who are lucky enough to know you, we all need to ask - where does this strength come from?
Dr. Cao gave us the opportunity to fight Jonah’s fate, Jonah is the only Sanfilippo type C child to have ever been diagnosed asymptomatic. Most children go through a 4-6 yearlong diagnostic odyssey before being diagnosed. By then the disease has caused their child profound brain damage. Jonah was diagnosed as a baby; I saw a window of opportunity to save his life before Sanfilippo ravaged his mind and body. Jonah is thirteen now and the disease has taken a toll on his brain and body, I have accepted what may come. JLK-247 is named after a family with three girls with Sanfilippo type C, this family has impacted me in a way that I cannot have imagined. I think about them all the time (24/7), I can envision the young women that that they could have grown to be if they were to be given the opportunity.
I realize that I could have had three children back-to-back all with this fate. Dr. Cao’s early diagnosis gave Jeremy and I the opportunity to rethink our family plans, next to each other. Jonah is our one and only true love. Could you imagine being told that your 4-, 6-, and 8-year-old girls were all going to die before adulthood? I have a great sense of duty to stop this from continuing to happen to future families. No parent should go through this nightmare.
Our path has inspired numerous of other families to follow the same course and drive the science for treatments of their child’s rare disease. I receive frequent calls and emails. It is very rewarding to hear of their accomplishments. When I feel defeated, I remind myself that I cannot quit, it’s not just for me, it’s for all the other families.
SSP: During the holidays, folks are often pulled into so many directions regarding where to donate. As friends of Jills, we ask that you consider donating to this particularly important cause, which is never given the attention that it so deeply deserves. Jill, how can we help you raise funds?
The Cure Sanfilippo Foundation created a fundraising campaign to help pay for the manufacturing of JLK-247. If you feel so inclined, you can donate here. https://www.gofundme.com/f/saveconnor