Jennifer Sarkar is a lifelong Los Angeles (California) girl, born and raised and still living there today with her family of 4.  She had professional dreams and ambitions of her own many years ago - becoming a nurse, or maybe even a lawyer - and ultimately becoming a mom to (healthy) children. But like a lot of special needs families - and especially mothers - those dreams sometimes get seriously derailed when your nightmare scenario (unhealthy child with a terminal, life-shortening illness) becomes a reality.  And that reality meant the Sarkar family needed Jennifer home with Carter, while her husband Samir pursued his dream to build and run a business that now allows kids everywhere to play sports and learn the important lessons of teamwork and sportsmanship.   

Since then, Jennifer has been essentially Carter’s “right arm” throughout his heroic journey as a Sanfilippo warrior - fighting a whole slew of health challenges and other terrifying experiences. She even home-schools him - almost unheard of for Sanfilippo families (it's exhausting!) - because the reality is that Carter is such an elopement risk that it would take at least two individual aides in the classroom to be able to assist him AND prevent him running out the doors of the school at any time.   She’s pretty much half-nocturnal at this point in her life, as her son’s bedtime now varies from anywhere between midnight and 7AM. Yes, 7AM. But no matter how sleep deprived she may be on any given day, Jennifer is always ready, willing and able to help any other Sanfilippo parent out there who needs her advice and guidance. 

A few other fun facts about Jennifer: 

• Favorite singer - Bruno Mars (she and Carter are both obsessed). 
• Favorite movie - Any good romantic comedy will do. 
• Who inspires her?  Her daughter Sophia ("She has unconditional love for Carter and really takes a lot of pride in being his sister"). 
• Something most don't know about Jennifer: She's an amateur baker and swears she could win at 'Nailed It'. 
• The motto by which she and her family live: "Live today, hope for tomorrow" -- Translation: Try and make every day count, because tomorrow is never promised.  ​

To follow Jennifer on TikTok, go to: https://www.tiktok.com/@carterschallenge.

To check out the “Saving Carter” video (produced by the Cure Sanfilippo Foundation) - which has raised over $1 million in the fight to cure Sanfilippo Syndrome - please click here: www.savingcarter.com. 

To learn more about the Cure Sanfilippo Foundation, click here: www.curesff.org  

To watch a fun, lighthearted music video that the Sarkar family created a few years back that explains Sanfilippo Syndrome, click here: youtu.be/looggQOYK1s.

It was a pleasure and privilege being able to talk to Jennifer and share her story, and we at the Sanfilippo Project look forward to continuing our conversation with Jennifer and collaborating with her in the months ahead as we continue to build out and expand our platform and ultimately share more of our stories with the world...  Click below to hear Jennifer share hers.

​During our conversation with Megan earlier this year, we asked her about collaboration efforts (if any) that currently exist between the adult- and childhood dementia communities.  She said that she's very pleasantly surprised at the level of engagement and support that she and her organization have received so far from the adult-onset community - particularly from Dementia Australia, which is one of Australia's largest adult-dementia organizations representing the 400,000+ Australians living with dementia.  Megan pointed out that even though the underlying root causes for adult- and childhood dementia are generally quite different and unique (for a myriad of reasons), there is undeniably plenty of opportunity for collaboration and joint advocacy across the dementia communities in the years ahead - and those collaboration efforts are now firmly underway. 
Furthermore, because all types of dementia - both adult- and childhood - ultimately target the brain, there's a high likelihood that any therapeutic solutions or even delivery mechanisms that demonstrates success or advancement for one type of dementia will have crossover scientific benefits for many other types of dementia as well. Click below for the 2-minute clip.

Dr. Sage Arbor (PhD) is a biochemist at Duke University, and he also happens to be the author's former college roommate and close friend.  He may not be a geneticist, but he certainly knows a heck of a lot more about this stuff than I do, which is why I wanted to pick his brain. Sage theorized that the "false negative" test result at the time may have been because of the the specific testing procedure used. I was confused. But he then explained to me that there are two common ways of genetic sequencing that are generally performed during these genetic testing procedures - one is called the "microchip" method (cheaper / doesn't catch everything); the other method is the classical genetic sequencing (more expensive / more accurate).  The main problem with the microchip method, he went on, is that if the test does not happen to include the exact genetic defect that the particular patient has, then the test will miss it - thus, the greater likelihood of a "false negative" test result.  The tests are better today than they were back then, he said, so hopefully the false negatives have dropped over that time as well.  Check out this clip (below) where Sage breaks it all down for us...
      

"What we do is we make sure we are thinking about all the different organ systems within the body that can be affected by these diseases - from head to toe - and that we're doing everything we possibly can to optimize outcomes for our patients."

-- Dr. Rebecca Ahrens, metabolic physician scientist at Children's Hospital of Philadelphia's lysosomal storage diseases unit (Her patients include children affected by Sanfilippo Syndrome). 
​

​Had the team of doctors that performed her son Ryder’s G-tube surgery in 2022 performed such a pre-surgery ultrasound on Taci’s son Ryder, Taci explained to me, the doctors likely would have discovered that Ryder’s stomach had at some point separated from the stomach wall (or something along those lines), which in turn had created ideal conditions for an infection to have built up in that area of Ryder’s body. Taci noted that Sanfilippo children in particular are exceptionally prone to various infections and medical complications, so in hindsight perhaps a more thorough antibiotic regimen for Ryder prior to the surgery would have helped prevent some of the medical complications that ensued post-surgery. Taci is happy to report, however, that the G-tube surgery ultimately worked out great for her son. I’m fact, Ryder has transformed himself from a skrawny kid into a rather husky young man over the past year - largely as a result of being able to get more nutrients and calories into his brave and battle-tested body.

To watch the full conversation (22 minutes long) with Dr. Ahrens, click here:

Sage Arbor (PhD) is a biochemist at Duke University.  When his old college roommate's son was diagnosed with the ultra-rare disease Sanfilippo Syndrome back in 2019, Sage sprung into action in two important ways to help pitch in: 1) he became an invaluable science resource for his friend (by making MPS and Sanfilippo focuses of his own research), and 2) he dove right into Sanfilippo awareness advocacy - once walking 100,000 steps (over 40 miles!) in one day to raise money for the fight against Sanfilippo Syndrome type C.  ​

In the link below, you'll see the full 22-minute conversation with Dr. Arbor.  It's a worthwhile listen.   

Kathy Buckley is the founder and CEO of Team Sanfilippo Foundation, and she was kind enough to join us for a conversation back in May 2023.  Kathy has used a combination of grit, tenacity, relentlessness and smarts to make a huge impact in the fight against Sanfilippo Syndrome.  Her son Matthew has Sanfilippo Syndrome, and he's doing quite well, and now in his early 20's.  One of the more fascinating parts of our conversation was her discussion about the Abeona investment back in 2013.  Abeona Therapeutics was formed in early 2013 to help focus the search for a cure for Sanfilippo Syndrome by providing a unifying voice between and across patient advocate groups, researchers, clinicians and investors.  Kathy was one of the early leaders who rallied the various organizations to pitch into the cause.  While the trials didn't come to fruition as hoped for, the Abeona investment did raise nearly $40M for the Sanfilippo research community at large, and has helped to fuel the ongoing fight against this relentless disease. Kathy calls this her proudest accomplishment so far in the fight against Sanfilippo. 

To learn more about the Team Sanfilippo Foundation, click here: https://teamsanfilippo.org/.

See below for the 3-minute clip where Kathy talks about how the Abeona investment came about.

To view the full interview with Kathy, click the link below:

See below to view the 3-minute clip, in which Megan talks about the "power of the stupid question" and how that has helped her achieve what she's able to achieve, despite a prior professional background that had nothing to do with science or rare disease advocacy.