The Fierce Pierce Foundation
Fiercely Taking on Rare Pediatric Orphan Disease
“Nothing is impossible, the word itself says I’m possible!”
-Audrey Hepburn
Our Mission:
“Alone we can do so little;
together we can do so much.”
- Helen Keller
Provide support to rare pediatric disease and inspire hope for those in need of it most.
About
There are currently over 12,000 Rare Diseases affecting 400 million people worldwide. 75% of these affect children, most of whom will never see the age of 5. Worst of all,S less than 5% of these have any form of treatment, let alone a cure.
The term “brave” does not come close to capturing the courage of these children. On the flipside, as a parent, there are no words to describe the degree of helplessness knowing your child has a fatal disease and there is no treatment, there is no cure, and worst of all, nothing is being done to try to find one. Unfortunately, this is a reality for many. This is the world of Pediatric Orphan Disease.
The Fierce Pierce Foundation was born out of the hope, optimism and good that can come out of even the most difficult and trying times. While we are working through the logistics of standing up this legal entity, all of the Fierce Pierce Foundation’s efforts are aligned with and support the Eleanor Kaplan Foundation and its efforts in finding a cure for TECPR2.
Pierce’s Story
“One day you’ll see how hard
it was and how brave your were.”
- Charles Mackesy
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Arriving four weeks early on January 6, 2021, and weighing just 3 lbs. 5 oz., even Pierce’s very first moments were brave when he was born not breathing, and doctors needed to spring into immediate action. Moments later, our first-born son, Pierce Austin Hynes was whisked off to the NICU to begin the first of many hospital visits marked by challenges, setbacks, frustration, questions and ultimately an introduction to Orphan Disease.
Three weeks into his NICU stay, by pure chance, an NYU geneticist with free time elected to “round” with Pierce’s care team and happened to notice facial characteristics consistent with a specific disorder. He ordered a genetic test that would alter our lives forever.
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At three weeks of life, Pierce was diagnosed with Uniparental Disomy 14 (UPD14), also known as Temple Syndrome, joining roughly 150 other known cases worldwide, ever.
Temple Syndrome is a unique condition defined by having two X chromosomes (Mom’s genes) and no Y chromosome (Dad’s genes) on Chromosome 14; instead of the typical XY combination. This technically makes Pierce’s genetic makeup 52% Mom compared to 48% Dad (e.g., Rachel’s twin!).
This rare genetic disorder greatly delays all aspects of growth and development: physical, mental, emotional and social. Put simply, for Pierce, everything from bones to muscle, organs to brain matter… all of it grows much, much more slowly than “normal”. It also means that he must work harder than normal to build muscle and become stronger and his development cognitively is likewise a steeper hill to climb. But he is climbing!
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Since his earliest days, Pierce’s resolve and determination has been relentless and his will is unmatched. His treatment plan consists of nightly growth hormone injections along with multiple visits from speech, physical, occupational, social and behavioral therapists each week. With the love and support of an army, Pierce has been methodically hitting each “normal” milestone, slowly getting stronger and more capable, trying to catch up to his twin brother, Sterling.
Our first big hurdle was eating. When Pierce was first released from the NICU, doctors had to surgically place a feeding port into his belly called a G-Tube because the valve systems in his throat weren’t developed enough to safely eat, due to low muscle tone. After 14-months of consuming liquids exclusively by pump, Pierce took his very first bites of food. Within 6 months, he was entirely mouth fed and we were able to remove the feeding tube!
Mobility was the next challenge for Pierce, but never one to back down, he was up to the task. Unable to lift his head at 6 months, Pierce managed his first rollover at 8 months. Persistence and physical therapy led Pierce to crawl by the age of 2, earning him the nickname “Scootch”.We are proud to report that as we near his 4th birthday, Pierce is able to walk short distances, hop, and is starting to run!
Language and communication is probably the most difficult for Pierce and the most delayed, when compared to gross and fine motor skills. Now that he is more mobile on his feet, he is slowly picking up more sounds and word approximations (banana is a fav!). Pierce’s primary form of communication is sign language, which we are all learning, and he is beginning to use an adaptive iPad device to speak for him via pictures.
But, despite his numerous improvements, constant therapies, and relentless hard work, to Temple Syndrome specialists, Pierce still seemed to be falling further behind than expected. In a disorder defined by developmental delay, Pierce is the most developmentally delayed case they have seen, even when he was evaluated by Dr. Temple herself, the UK specialist for whom the syndrome is named
In August 2023, at Dr. Temple’s suggestion, the Children’s Hospital of Philadelphia began conducting a deeper dive into Pierce’s genes, specifically focusing on the 14th Chromosome where the duplicated X anomaly exists. It would take nearly a year for us to get the results.
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Early this summer, we received Pierce’s second diagnosis: the ultra-rare and very severe genetic disease TECPR2. There are only 40 documented cases in history, including just 10 cases in the US.
TECPR2 is a rare recessive genetic mutation which is largely found in the Ashkenazi-Jewish population. Importantly, this genetic mutation resides on the 14th Chromosome. Even though this is a recessive gene and Dad isn’t a carrier, because it resides on the 14th Chromosome where Pierce has XX (i.e., two of Mom’s genetic packages), he inherited this disease when it became inherently dominant due to the very rare duplication. Pierce has TECPR2 because he has Temple Syndrome.
As far as the medical community is aware, Pierce is the only example of someone with both Temple Syndrome and TECPR2, making him truly one-of-one. Our silly jokester, feisty, very fierce Mister Pierce is truly unique.
“Courage is Being Scared to Death and Saddling Up Anyway.” -John Wayne
Given its rarity and limited published information, our doctors put us in contact with the top specialist in the world… which fortunately for us is a nearby Harvard specialist at Boston Children’s Hospital.
Unfortunately, the meeting confirmed some of our worst fears. This ultra-rare disease is essentially pediatric ALS also known as Lou Gehrig’s. It is progressive; it will get worse with time. It is neurodegenerative, so it will attack the nervous system and cause it to stop working. And it is ultimately fatal, with the oldest documented case having lived to just 19 years old.
The major risk factors that exist for Pierce as a result of TECPR2 are aspiration (choking) or core apnea (stopping breathing while asleep). We are taking all the precautions we can to regularly monitor these areas and take part in preventative care. We visit a lot of specialists, and are cared for by an entire community of healthcare providing angels. This is one of the reasons we came to Philadelphia and we are fortunate to be very close to a top Children’s Hospital in the world.
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The reality of TECPR2 has been difficult to process. As a parent of a child with a pediatric rare disease, let alone an “orphan disease,” we’ve yet to find the right words to describe the feelings of helplessness knowing your child has an ultimately fatal disease and there is nothing you can do but hope you beat the odds.
There is no treatment for TECPR2. There is no cure. And perhaps hardest to accept of all is, since it is so rare, there is no hope that one is coming. We are alone.
Or at least that was what we thought. Until we met Leni and the Kaplans.
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“You don’t have to see the whole staircase, just take the first step.” -Martin Luther King Jr.
While our doctors at Harvard could only give us medically approved answers, they did give us the contact information of a patient family active in the TECPR2 community and urged us to reach out. That family is The Kaplans and their daughter, Leni, was born in 2018 with TECPR2. They were given the same answer we were – there is no treatment, no cure, no hope.
So the Kaplans set out to create one…
By partnering with multiple hospitals, medical schools, companies and foundations, the Kaplans and team have proven the model and built a template to cure not just TECPR2, but many other rare diseases and countless children. They’ve developed a successful gene therapy. A cure.
Finding a Cure
Pierce is Partnering with:
“Together we can do great things”
- Mother Teresa
What is TECPR2?
TECPR2 is a progressive, neurodegenerative disease; it gets worse with time and attacks central nervous system. It is effectively Pediatric ALS. In time, it will take away a child’s ability to walk, talk, swallow and, ultimately, breathe.
Is there a treatment or cure?
Not yet, but where there is a will there is a way. Some incredibly smart, passionate, caring individuals have been working tirelessly to create one.
Together, we will cure TECPR2!
What’s been accomplished thus far?
The Eleanor Kaplan Foundation has been busy championing a cure since 2018 and has already assembled an incredible team!
Through collaborative efforts, incredible strides have been made toward doing the impossible and creating a successful Gene Therapy Cure for an Orphan Pediatric Disease.
What’s Gene Therapy?
What’s the team’s current progress?
Since 2022, this team which we are fortunate to now be part of, has developed a gene therapy proof of concept and successfully “infected” model mice with TECPR2.
And then cured them!!
There is now a process to remove the TECPR2 gene, replace it with a healthy one, and allow these kids to live.
We are successfully past the safety trials in mice and standing at the front door of manufacturing for human clinical trials.
What’s next?
With enough fundraising, in just 2 years time, we can cure the entire population of children suffering from TECPR2. And that blueprint is just the beginning for what other genetic diseases we can cure.
What are symptoms?
Developmental delays, intellectual disability, speech and language delays, chronic respiratory infections, physical and motor function delays, various issues associated with the nervous system, the list goes on…
Is it Fatal?
Unfortunately, yes.
Oldest known child lived to just 19 years old.
Unprecedented level of partnerships formed for an Orphan Pediatric Disease
Full Rescue in the Brain!
We are now gearing up for
Clinical Trials!
How can I help?
Your love, support, thoughts, prayers, and well-wishes are the fuel that makes Pierce Fierce!! Your generosity can help cure TECPR2 and spreading his mission will help the fight against Pediatric Orphan Disease!
PROJECTED
TIMELINE & BUDGET
What’s next?
With enough fundraising, in just 2 years time, we can cure the entire population of children suffering from TECPR2. And that blueprint is just the beginning for what other genetic diseases we can cure.
Join Pierce in the next part of his journey,
as he Fiercely takes on TECPR2
The Fierce Pierce Foundation is partnering with the Eleanor Kaplan Foundation in its efforts to help develop cures for Pediatric Rare Disease, starting with TECPR2.
This February, we are supporting ONE RARE NIGHT, an evening for Pediatric Rare Disease and its goal of raising $500,000 towards the next steps in the groundbreaking medical research and cure.
Please consider buying tickets or donating to this event and/or Leni’s Foundation and help support not just TECPR2, but a cure for many other pediatric rare diseases.
Ways to Donate
As we are still in the midst of formalizing a 501(c)(3) charitable organization and it is likely to take upwards of another six months, at present we’d direct all of your generosity and donations to the established foundation and event noted below:
Support the inaugural One Rare Night Event, which will be fundraising on behalf of TECPR2 this February!
Donate to Leni’s Foundation, which leads efforts in finding the cure for TECPR2!
