10 years ago, a life changing event happened to Jill Wood and her husband Jeremy Weishaar. They found out that their little baby boy, Jonah, was diagnosed with a fatal rare disease, Sanfilippo Syndrome. Dr. Cao was instrumental in his early diagnosis, and this began the beginning of a very special friendship between Hai and Jonah. Please take the time to read this interview and learn how we can help our neighbor Jonah, and all of the other beautiful children fighting this terrible disease. THEY NEED OUR HELP NOW.
SSP: Before we get into the science and most recent research accomplishments, can you tell us how our good friend Jonah is doing today?
Thanks for asking. I love to brag about how amazingly well Jonah is doing! Dr. Cao met Jonah for the first time at Jonah's first year well visit. Dr. Cao noted that Jonah had a large head, off the scales and suggested that we go for an MRI. It's probably nothing... But let's make sure. First we went to see a neurologist that echoed Dr. Cao's advice. Dx day arrived a year later and was delivered by our geneticist. To summarize Jonah, has Sanfilippo Syndrome an uber-rare genetic disease. Life expectancy.... Not good. Jeremy and I were left with the assumption that Jonah would never say the words "I love you", he'd never be potty trained or eat independently. But first he'd go through the terrible 2's times 100, then plummet to a 1 year old in a teenagers body, leaving us wishing for the terrible 2's times 100 again.
We celebrated Jonah's 11th Birthday in July. Summer Birthdays are hard, everyone is out of town. Summer Birthday parties for a special needs children are even harder. Jonah only receives one or two birthday party invitations a year, his peers have outgrown him. Despite the birthday party invite obstacles, Jonah had the best day ever, several of his classmates from PS10's self-contained classroom, 460 came out to celebrate. Jonah was overwhelmed by all the love. A few days after Jonah's birthday we received word that Jonah had been accepted into the Manhattan Star Academy-Upper School. WOW! 2 months in and it has been the single best thing that has happened in our lives since Jonah's diagnosis. Special needs parents and All parents... Worry about their children at school. School is Scary for all of us. Truth be told.... I secretly wanted a para for Jonah to protect him from bullies. At Manhattan Star Academy all of our insecurities have been squashed, he is in the best hands possible. Jonah is thriving, he wakes up on weekends and asks if he can go to school today?! Health wise he has had no major complications (knock on wood) he has not regressed cognitively, Jonah is in a good place. Saving Jonah's life will take everything within our power. Knowing that Jonah is happy during this time is the best medicine that we could have.
SSP: For those SSP families and friends who are not already aware, can you please explain what ultra-rare disease Jonah has, and how children are affected by it?
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 defective gene to Jonah. There isn't a 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.
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: It has been a while since we last caught up with you. Can you share any updates over the past year - I understand JJB has joined forces with the Cure Sanfilippo Foundation? What does that mean for you?
Yes, JJB has joined forces with our friends at the Cure Sanfilippo Foundation. Knowing that JJB's initiatives are in good hands with CSFF has allowed me the opportunity to direct my attention to taking our pre-clinical drugs to the clinic. The Cure Sanfilippo Foundation is ran by Eliza's parents, Glenn and Cara O'Neill. Cara A.K.A. Dr. O'Neill is a pediatrician; giving her an extra layer of understanding of this disease and what it will take to develop a treatment. The Cure Sanfilippo Foundation is committed to helping us raise funds towards a clinical trial for Jonah and the other children suffering from Sanfilippo Syndrome.
SSP: Where are you in regards to finding a treatment? What is the current research?
This past September my biotech, Phoenix Nest Inc. had our first Pre-IND meeting with the FDA i.e. an early Investigational New Drug meeting with the Food and Drug Administration. At this meeting we presented our data on the pre-clinical research for our proposed new drug. As you can imagine, it is quite the process. The fact that we're proposing to take a novel type of drug, a gene therapy and delivering it into the brains of pediatric patients triggers a very strict set of clinical trial guidelines. The FDA gave us some suggestions on how we can better convince them that our proposed route of administration is indeed safe. The FDA's suggestion will add another year onto our pre-clinical research and cost another $305,000. This isn't a setback, it is an opportunity to take advantage of the situation and incorporate a recently developed technique! Yes, the new study will cost us a ton of money but it will be a blessing in disguise.
SSP: As we’re coming to the holiday season here, many of us are looking for ways we can give. It’s especially meaningful as you are our neighbor and a very close friend of Dr. Cao’s! What is the best way for us to contribute? Is there anything we can do on a local level to support you?
That is very kind and much appreciated ask. One very simple way to help is by adding the Cure Sanfilippo Foundation as your charity on AmazonSmile. com. Secondly, you can donate here https://sanfilippodev.wpengine.com/meet-the-families/jonah/ Lastly, please follow our social media pages and share our story. https://missionhideandhelp.org/
SSP: What would you like for us to know about Jonah, and other children who live with this disease?
Jonah is an optimistic, happy and courageous 11 year old. Jonah is harboring an insidious disease that could take his life without cause during sleep. We are reminded of this today, as we mourn the passing of Ross, an 11 year old boy who lost his battle to Sanfilippo yesterday.
Thank you all for continuing to support JJB though CSFF!
xo Jill, Jeremy and Jonah
**** November 16th is World Sanfilippo Awareness Day. Learn how you can show your support here: https://curesff.org/worldsanfilippoawarenessday/ ****
Jonah's Just Begun is now under the umbrella of the Cure Sanfilippo Foundation. Please continue to support our efforts to Cure Sanfilippo by donating to CureSFF.
Join our Mission, "Mission Hide and Help"