Mom Knows Best (Gaby’s Story)

Hello! My name is Gabriella Talarico, but everyone calls me Gaby. I am a 20-year-old sophomore attending Rutgers University. I aspire to graduate with a degree in Food Science, I love to swing dance, and I have made great friends while attending Rutgers. Everything seems normal, right? Well…it wasn’t always this way. Let me back up 20 years to where my life truly began, and the mysteries as well.
I was born January 20th 1995 a healthy 8 lb. 2 oz. C-section baby. My parents couldn’t have been happier with their new little bundle of joy. Of course, being new and young parents, anything that looked suspicious was easily marked as the next doctor’s visit. The first suspicious ailment was a rash that spread all over my tummy and face. It wasn’t like regular rashes; it was raised and splotchy. However, after a range of tests arranged by my nervous mother at Children’s Hospital in Philadelphia, the best diagnosis was an unknown rash. When I was 18 months, we moved to Boston, the rash mysteriously went away and the whole event was just a memory.
From the ages of 3 to 6, I grew up playing with all of the kids on the block, but sometimes I just wasn’t able to participate. On these days…I was sick. It became the norm in my family that I would get sick at least once a month with a cold, sinus infection, fever, ear infection, pink eye, etc. I would also get little seizures when I had a fever, but they would quickly dissipate. As a kid, I distinctly remember one family vacation to Puerto Rico where my temperature was checked every 10 minutes because of a fever. My mom, with her mother’s intuition, thought there was something wrong again. Another visit to the hospital left us with the answer of febrile seizures. This also explained the decalcification on my teeth that were beginning to become apparent.
About a year later, I had a really bad seizure related to a fever and we ended up in the hospital again. This time epilepsy was the possible diagnosis. I had a huge contraption on my head that made me think I was Medusa and I watched Casper the Friendly Ghost while doctors did numerous tests on my brain. After the stressed EKG’s and overnight monitoring the doctor ruled everything normal. Before we left, my calcium read lower than normal. The hospital dismissed this reading a bad test and sent us home once again.
One winter, when I was 11 years old, I went up to my parents and told them that I couldn’t remember my teacher’s name. That was when mom’s intuition kicked into overdrive. She knew something was wrong with me, but no one was giving us any answers. It was that same winter in February that I had one of my seizures again…but this one I didn’t come out of it. I was rushed to the hospital again where my calcium was checked. My calcium level read 5 out of a normal range of 8-10. The hospital was going to dismiss us once again and say it was a false reading, but our good friend that was a physician at the hospital told the ER to run the test again. The test was run with the same outcome and I was transferred to the ICU for 6 days. The Pediatric Endocrinologist diagnosed me with Hypoparathyroidism. This is when your parathyroid glands do not work properly and you do not absorb calcium as a result. This test result was a relief to my worried parents, but before we left, the hospital said they would do a series of other tests to rule out other ailments. However, they said they were very unlikely and that there was nothing to worry about.
About a month later, we received a phone call saying that I had traces of antibodies in my adrenal glands. This gave us a new diagnosis, and one that I still live with to this day: APS Type 1, or Autoimmune Polyglandular Syndrome Type 1.
APS Type 1 is a rare autoimmune disorder that is double recessive. This means that both parents must be carriers for a mutation in the gene known as the “aire” gene. This disorder is so rare that only 1 in 2 million people have it in the world. The simplest description of what happens in my body is that my antibodies attack my endocrine system. So far my parathyroid glands, adrenal glands, ovaries, and kidneys have been attacked. Not every APSer (as we nicknamed them) is the same though. We all may have overlapping ailments, there are some who have liver issues, alopecia, malabsorption, gastrointestinal problems, eye issues, etc. The reason for these differences has to do with the severity of the mutation in the gene. The one thing that all APSers share, however, is the “unknown fungal infection” that I had as a baby. This “rash” was actually a form of Canadidiasis that appeared as a rash on the outside of my body. Canadidiasis is a fungal infection that can be found anywhere on the body, even in the throat. Most APSers are diagnosed with 2 of the 3 core ailments. Canadidiasis, Hypoparathyrodism, and or Addisons Disease
For my day-to-day routine, I take about 12 pills a day, inject myself twice a day, and have to be very cautious around germs. I must also make weekly trips to the hospital to check my levels and adjust my medication when needed. I still attend college like other normal 20 year olds, and I have fun doing it. But while I may look and act normal around friends and in class, internally…my body is constantly fighting a war against itself.