Pierce’s Journey
“One day you’ll see how hard
it was and how brave your were.”
- Charles Mackesy
Born Fierce
Arriving four weeks early on January 6, 2021 at just 3 lbs. 5 oz., even Pierce’s very first moments were brave. He was born not breathing, and doctors needed to spring into immediate action. Moments later our first-born son, Pierce Austin, 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 an NYU geneticist “rounded” with Pierce’s care team and noticed facial characteristics consistent with a specific disorder. He ordered a genetic test that would alter our lives forever.
Technically, He’s a Momma’s Boy
At three weeks old, Pierce was diagnosed with Uniparental Disomy 14 (UPD14), also known as Temple Syndrome, joining roughly 150 cases worldwide, ever.
Temple Syndrome is a unique genetic anomaly 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., he is Rachel’s twin!).
This ultra-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. His cognitive development is likewise a steeper hill to climb… but he is climbing!
A Drive to Thrive
Since his earliest days, Pierce’s resolve and determination has been relentless. His treatment plan consists of nightly growth hormone injections, as well as 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 in order to safely eat, due to his low muscle tone and inability to safely swallow. After 14-months of consuming milk exclusively by feeding 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 entirely!
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 even 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 and hat are favorites!). 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 himself via pictures.
But, despite his numerous improvements, Temple Syndrome specialists felt Pierce was falling further behind than expected. In fact, after an evaluation by Dr. Temple (the UK specialist for whom the syndrome is named) Pierce was confirmed to be the most developmentally delayed case they have ever seen.
As a result of this evaluation, 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.
The One and Only Fierce Pierce
Early this summer, we received Pierce’s second diagnosis: the even more 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., double Mom), he inherited this disease when it became dominant due to the very rare chromosomal 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.
Darkest Before Dawn
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. At times it doesn’t feel real, knowing your child has an ultimately fatal disease and there is nothing you can do but hope to 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…
One Step at a Time
“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 hypothetical scenarios about the future, 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.
