Last year, the week before Easter, I came home from my last semester on campus at Notre Dame for doctors appointments and an infusion. At that time I was regularly receiving intravenous iron to treat my chronic anemia, without any complications. What should have been a routine outpatient visit to the local hospital, turned into a catastrophe from which I feared, more seriously than ever before, I wouldn’t walk out of it alive. After an ambulance ride to the ER and 48 hours of accidental discharge and frantic readmission, I was ultimately placed on the cardiac floor, pumped full of IV antibiotics, and scheduled for an emergency surgery to remove the infected port in my chest, the culprit that had released bacteria into my bloodstream and caused me to become septic. The neuropathic pain I experienced from brain swelling that ensued from the infection pumping through my veins surpassed that of my worst nightmares and psychologically forced me into a dark place. It was somewhere darker than anywhere I had been before.
Sadly, I learned in the year to follow, once you’ve hit a new low, it’s easier to slip into those depths. Thankfully, I also learned a lot by ascending from those pits of despair. And let’s just say, in my last trip around the sun I was not short of opportunities to practice pulling myself back up!
Just weeks before graduation, upon completion of the oral antibiotics prescribed after the port infection, I developed secondary autoimmunity to neurotransmitter receptors in my brain. This, coupled with an acute sinus infection that caused by meninges to swell, landed me hysterical in the ER at Stanford Hospital, desperate for my neurologist to provide relief from yet another pinnacle of physical and psychological distress.
To call the intensity of emotions surrounding graduation overwhelming is a pathetic understatement. Overcome by gratitude for all that the Notre Dame family had gifted me over my four years, I left South Bend feeling eternally incapable of using my life and work to honor all that I had gained.
Returning home and making a post-college transition was confusing. As I tried to focus on my health, I re-engaged with doctors I had lost track of and sought new opinions from previously untapped sources of knowledge. I became obsessed with making all the right decisions and doing everything perfectly in order to recover. I most definitely lost sight of the forest for the trees and bogged myself into a mental quagmire from which nobody could extricate me. As I struggled to make sense of all the voices giving well-intentioned, but perpetually contradictory, input, it was an extremely tense time for everyone around me. I locked myself up out of a desire to fend for myself and learn how to make choices independently, but I was still crying and screaming for help, agonizing over my poor health.
When I look back on this period, I perceive it to be the most poignant example of the progress I have made in the past year. I have achieved such prominent growth in learning to trust myself, honoring my needs, and appropriately yielding to my instincts. I now feel so much better equipped to distill important messages from the noise around me, seek trustworthy advisors, more gracefully and gratefully rely on the love of my family and friends, and ultimately make better decisions for myself.
Life feels like one long discernment process and I certainly haven’t settled on anything; however, I feel like I’ve centered on the things that matter most. By continually reorienting myself, I am able to make sound decisions with a clear conscience and hopeful wishes, instead of being permanently indecisive, paranoid, and tormented by self-doubt.
By fall I was stir-crazy and in desperate need of a change of scenery. One of my doctors had recently uncovered a factor that was exacerbating my pain. Tracking my pain levels for weeks and then retrospectively comparing the values with shifts in the barometric pressure revealed compelling evidence that the tumultuousness of Philadelphia’s weather has a negative effect on my symptoms. I used this revelation as justification that I simply had to escape to the most beautiful climate available, before the temperature dropped at home. Off to California I went (but not alone)! Paddy and I had one heck of an adventure, starting in Los Angeles and settling at a home-away-from-home with my “chosen” extended family in the San Francisco Bay Area. Mr. and Mrs. White were exceptionally, albeit characteristically, gracious in hosting Paddy and me while I tried to figure out what to do next professionally and medically. I was introduced to a friend of Mrs. White who kindly shared the story of her family’s humbling experiences dealing with chronic illness. After some research, I decided to continue my journey onto Arizona in hopes that I could benefit from intensive treatments at the biological medicine clinic where she and her sons had found answers and seen improvement.
The American Center for Biological Medicine in Scottsdale, AZ was founded on the principles and teachings of the doctor whose clinic my mother and I visited in Switzerland back at the beginning of this blog in 2015. As always, my parents and Mark bent over backward to make this possible and then offered unwavering support in my decision to leave the program early after feeling uneasy about my first couple weeks under the care of the Naturopathic Doctor.
At this time I was disillusioned and pessimistic about the prospect of breaking out of this six-month rut in my physical health. I was not only lost, but I was experiencing fatigue so debilitating it was reminiscent of the period when I returned from South Africa in 2010 and spent months on bedrest, barely able to hold my hands up long enough to wash my hair in the shower. Something had to give and thankfully this time I didn’t have to wait long for the ball to begin rolling in the right direction.
Through the years of pouring over all the research conducted on POTS to date and becoming involved with scientists dedicating their life’s work to our cause, I have been fortunate enough to meet lots of remarkably resilient Dysautonomia patients. I was particularly lucky to become friendly with the extraordinary woman who founded Dysautonomia International. Simply put, Lauren Stiles is astonishingly impressive! The POTS community is so fortunate to have her as our fearless leader and I feel truly blessed to have her as a role model. Thanks to the efforts of Lauren and her amazing team, over the course of a weekend in July I had the privilege of attending lectures by all the top physicians and researchers in the field gathered in a hotel in Washington D.C. Not to mention, I met even more extraordinarily inspiring patients and caretakers! Before leaving Arizona, my dad encouraged me to take a shot-in-the-dark and request an impromptu visit with the neurologist who had received the Dysautonomia International Physician of the Year award the previous summer. To my greatest surprise, Dr. Brent Goodman, agreed to squeeze me in for an appointment and to undergo full autonomic testing at the Mayo Clinic in Scottsdale the day before I needed to fly home for another visit with a specialist in Philadelphia. After just a couple minutes with Dr. Goodman it became clear that I was foolish to have been so shocked by his willingness to take me on as a patient because he is amongst the most compassionate and thoughtful physicians I have encountered in all these years. This time, I wasn’t crawling my way out of a hole, Dr. Goodman was reaching down and lifting me up. Heck, I was levitating with excitement about the possibility for improving in his hands!
The morning after I landed in Philadelphia I had an appointment with an immunologist at the University of Pennsylvania Hospital. I had scheduled the appointment all the way back in June when I first came home from school and was running around like a possessed chicken with its head cut off seeing any specialist I thought might have even a nugget of useful information. The doctors I saw that day turned out to be worth the wait. Again, amazed by the compassion of Drs. Takach and Patel, I was thankful for the confidence being instilled in me that brighter days were ahead.
Halfway through the lengthy appointment, an email popped up on my phone that I needed to open right away. After being so wow’ed by my experiences with Dr. Goodman, I didn’t think I could think more highly of him, but yet again I was foolish to underestimate his dedication! While sitting in the office with my Drs. Takach and Patel, Dr. Goodman had reached out to me with blood results that had come in overnight from a workup he ordered the day prior. He was forwarding me the very relevant findings of an immunoglobulin deficiency because he remembered I was seeing a new immunologist and he didn’t want me to miss the opportunity to discuss the results with her. It was another piece of the puzzle, a nugget of hope to hold tenderly.
As I settled into life back at home, I remained unsettled by the lack of clear direction for my treatment. With Dr. Goodman on the other side of the country, I needed to look for someone local to coordinate my care. I needed to draft a big-time player to be my quarterback, so we put together a list of people who were familiar with my case and tried to determine who might be up for the challenge. We reached out to a neurologist at Jefferson who I had seen in August 2016 for a brain health evaluation. At the time he had put together an outrageously thorough review of my case, but the timing was unfortunate because I was headed back to South Bend the next day to begin my senior year and I was too overwhelmed by the upcoming semester to fully appreciate the extent to which his care could change my life. Ever since Dr. Mijail Serruya agreed to be a champion for my cause, he has done just that: changed my life. In his eagerness to establish relationships and remain in communication with my other treating physicians, he has taken the weight of the world off my shoulders and allowed me to “Trust the Process.” He has answered every question I’ve thrown at him, sincerely, meticulously, and highly intellectually. He is always humble enough to admit when something is out of his wheelhouse, but also so honorably willing to put in the time and energy to research all relevant leads. He leaves no rock unturned in his pursuit of relieving me from my chronic pain and disease.
After years of turning over rocks to no avail, I finally gained information from whole-exome genetic sequencing which elucidates, to some extent, the etiology of my conditions. I learned this year that I possess a mutation in one of the genes that encodes for collagen. This corroborates my clinical diagnosis of Classical Ehlers Danlos Syndrome (EDS). EDS is a hereditary connective tissue disorder that causes hypermobility and a host of related symptoms, most notably, chronic pain. While this has long been suspected in me, due to a significant overlap in POTS patients with hypermobility, I greatly appreciate the ability to swap question marks for periods in my head. Even if it often leads to more question marks, hahah!
Back in 2015 my primary care physician, Dr. Daphne Goldberg, who quite possibly possesses the most brilliant mind and purest heart I’ve had the honor of witnessing, began treating me for Mast Cell Activation Syndrome (MCAS). Relying upon her exquisite intellect, keen intuition, and overwhelming intimacy with my case, she was able to pinpoint the issue that was hidden like a needle in a haystack. Years later, POTS doctors are finding an increased prevalence of this condition and by treating accordingly their patients are improving on many fronts. We recently contacted the scientist at the National Institute of Health (NIH) exploring this issue because the NIH has reportedly uncovered a genetic variation that accounts for a number of multisystem disorders such as POTS, EDS, and MCAS. The wonderfully helpful study coordinator offered to test me for multiple copies of a gene that encodes for tryptase and is predicted to be an explanation for the elusive syndromes I have been labeled with over the years. He called to inform me that I tested positive and indeed have what they are calling Hereditary Alpha Tryptasemia. Yet again, due to the lack of research to date, this leads us to a bit of a dead end with regard to viable treatment options, but it also delivers us hope in what we might learn through future research down in Bethesda, MD and around the world.
For now, it feels good to be from Philly! I am living in a city of champions and thankful for the team of doctors working together to champion my cause. Dr. Serruya, through the support of Drs. Heiman-Patterson (my neurologist at Temple), and Drs. Takach and Patel, are executing and overseeing the recommendations of Dr. Goodman. Throughout March I underwent seven rounds of plasmapheresis to clear any circulating autoantibodies. Then, on March 23rd I received my first 20 grams of intravenous immunoglobulin (IVIG), which we plan to continue biweekly for the next 6-9 months.
Unfortunately, in the 48 hours following the infusion, I developed aseptic meningitis, a painful complication of the IVIG. Flat on my back with terrible head and spine pain for six days, every time I crawled to the bathroom I questioned how I will endure this every two weeks for months on end. The symptoms were alleviated by IV steroids and fluids and on Good Friday I woke up feeling as if a veil had lifted. SHE HAS RISEN, just in time for Easter! It is surreal to say that for the first time in three years I had two days in a row that were better than my baseline. While this may seem like a small victory, it is so much more than that. It is the unquenchable hope that I will attain enduring health and happiness. A privilege I would owe to all the people who have stood by me, including most loyally, lovingly, and selflessly, for the last two and a half years, Mark Grasberger.
There’s no beating around the fact that over the past year my health has been very poor and it’s been a constant battle to keep my head above water. I opted out of having laparoscopic surgery to definitely diagnose highly suspected endometriosis, a condition which has caused me tremendous pain and angst. I am currently in pelvic floor physical therapy 2-3 times a week to counteract the joint instability that results from my connective tissue disorder. I have been unable to suppress an Ulcerative Colitis flare that has required two colonoscopies, multiples protoscopes, countless rectal swabs, many stool samples, nightly suppositories and enemas, and caused rectal bleeding every day since August. I have a daunting 6-9 months ahead of me with bi-weekly IVIG, complete with intensive complication damage control. Frankly, I still struggle every single day with the same symptoms I have complained of for years and continue to be haunted by the unnerving unpredictability of my body. However, I have a better sense of self and greater confidence in my ability to make decisions. I continue to learn how to take better care of myself and appreciate the care of people that fill me up and enhance my quality of life. I am grateful because, at least for today, I am thriving on hope and that feels a “hell of a lot” better than the alternative.