Samantha is the bravest, strongest, most stubborn, yet sweetest person you may ever meet. Depending on the day and time you meet her, one or more of these character traits may be more prevalent. She’s really a force of nature.
Samantha was born on September 6, 2007, completely healthy with more than a full head of beautiful hair. We couldn’t have been more proud and in love. Samantha stayed healthy for the first couple years. We had no reason to suspect that she would soon develop what we now know is an ultra-rare autoimmune, genetic condition called “Autoimmune Polyglandular Syndrome Type 1” (often called APS-1 or APECED). APS-1 reportedly affects only 1 in every 2-3 million people in the United States—that’s just 100-150 people here and an estimated 500 people world-wide. What are the odds?
The first signs weren’t so clear. Samantha developed an irrational and insatiable craving for milk. Not cold milk or hot milk, but warm milk, which she affectionately called “super hot.” We’re talking 10 or more cups of milk each day, and she’d whine and cry desperately for it when we tried to suggest alternatives. Looking back, the “super hot” may have saved Samantha.
Just after Samantha’s third birthday in September 2010, while riding horses at her grandpa’s house in Fresno, Samantha had her 
first seizure (or at least the first one we actually witnessed). The emergency room doctor told us that it was only a febrile seizure. No blood was taken, and no real effort was made to find the cause. Trusting the process, we went home and back to “normal” life. By December, Samantha was twitching everywhere, even falling down the stairs.
After a long and uncomfortable Christmas Day in 2010, just as we were sitting down to Christmas dinner, Samantha had another major seizure. Again, the emergency room (a different one this time) sent us home, telling us she’d surely grow out of the seizures. She didn’t. Days later, after the pediatrician ordered comprehensive lab work (the first doctor ever to order a blood test for Samantha), we were rushed to the third different hospital with gravely low blood calcium levels. Her heart was in arrhythmia and the repeated seizures were turning her blue. We had never even considered calcium (or lack thereof) to be the source of Samantha’s suffering. Calcium is something that only middle aged women need to worry about, right? Not true.
Samantha was hospitalized for 3 weeks while a myriad of doctors tried to determine how to stabilize her blood calcium levels. As she was being constantly infused with calcium, seemingly like from a gas station pump, even the excellent PICU doctors could not say for certain when and whether she would be okay to go home. More importantly, while they worked tirelessly to fix the immediate problem with Samantha’s calcium levels, no one could tell us why this was happening. Was she born with this? Did she just get it? What was the treatment? Yet, our young Samantha persevered with her Samurai Warrior mentality.
Fast forward four years: It took us that long to discover the root cause of the problem. After spending countless hours searching the web, after going back to the hospital with pneumonia, after countless trips to so many types of doctors, and even after traveling back East for medical conferences, it wasn’t until Samantha developed alopecia areata (significant hair loss) that we had to face the reality that something bigger was happening. It just couldn’t be a coincidence that Samantha now had a handful of unexplained autoimmune problems. Genetic testing finally revealed what we had suspected for some time: APS Type 1.
Many of you know and love Samantha. By most outward appearances, Samantha is a “normal” child experiencing “normal” childhood things. Before Covid-19 took hold, Samantha played basketball and enjoyed art classes. During the pandemic, she learned to boogie board and skateboard. What many don’t see, however, is that Samantha has frequent blood tests (sometimes even daily) and annual ultrasounds; she participates in a clinical study at the National Institutes of Health (where she endured 55 blood tests in 6 days); and she makes countless visits to doctors. She takes no fewer than 15 pills, three times per day. She misses school a lot, and her stamina is terrible. A simple cold can turn to pneumonia in a day, requiring a hospital stay. A simple stomach flu requires a trip to the emergency room for IV fluids and steroids. Playdates are tough, sleepovers almost a non-starter. Remarkably, however, she rarely complains about “being different” other than normal stuff like having to take so many pills all the time. 2020 has been particularly challenging for Samantha and our family. Not only has Covid-19 kept us home for fear of severe Covid-19 complications, but Samantha has been hospitalized more than half a dozen times this year. Recently, Samantha started to wear an insulin pump to administer parathyroid hormone. After an unexpectedly tricky year, the pump is starting to stabilize Samantha’s serum calcium and improve her quality of life.
We strive daily to raise Samantha to be a strong, confident, brave and compassionate person. Our family motto is “everyone is different.” We try to turn every obstacle into an opportunity. But, every day brings new challenges. We hope one day there will be a cure to this chronic, and ever developing disease.
We need your help. The lack of scientific knowledge and quality information on rare diseases, generally, and APS-1 in particular, lead to our 4 year delay in properly diagnosing Samantha. We started Samantha’s Something not only to share Samantha’s special something with you, but to raise the desperately needed money to eventually cure this disease. And maybe, just maybe we can make meaningful inroads to more common diseases such as Type 1 Diabetes or the dreaded “C” word.
