The holiday season was upon us. It is always such a busy time for everyone, and things just sometimes go unnoticed. Kids were busy cramming for tests to be taken before the holiday break, parents and siblings were bustling about trying to check off items on everyone’s wish list, and grown up family members were busy tidying up and cooking in preparation for the house loads of guests they would have throughout the season. We too were busy this year, as it was the first year in forever that I was almost stable enough to participate in some of the festivities, as long as I was very prepared and adhered to my strict regimen of what I refer to as a gazillion medications. It has been almost three years since my proper diagnosis and what seems like an eternity that I have been battling a disease sometimes referred to as the “Nasty Masties” by some patients.
We scurried about throughout the holiday school break together as a family. My children, Jared, age 13 and Samantha, age 9 were always so elated when we too could do things as a family unit. After all, there were past occasions when their bags were packed, they were ready to go, the taxi had arrived, and we stood together to take a family photo. There was only one thing missing. If one looked close enough and counted the baggage, there were only 3 suitcases instead of four. I knew it was best to stand in the photo with them, to make it appear as though I was travelling with them, as somehow they always shared pictures and stories in school, and I didn’t want them to have to explain yet once again. I must admit though, while my kids were every bit ecstatic to take any trip, I broke into tears barely holding back long enough for them to close the door of the taxi. This was it, though. This was just the way it had to be. I was no longer in control, but instead the disease controlled me.
One day before the New Year and sometime after Christmas, I retrieved the mail from my garage where it dropped through the mail slot. When things were sometimes quiet and I had a few minutes to just breathe, I often skimmed through magazines, community newspapers and health related newsletters. On this particular day, the mail had arrived all wet, and my NORD Winter 2013/2014 was wrapped around everything else that was delivered and was kind of soaked. I looked at the front cover, and immediately, my attention was sparked. This was one occasion which things would not go unnoticed. I quickly identified some key words including “Undiagnosed Patients” and “NIH Undiagnosed Diseases Program.” I laid the newsletter on top of my stove to dry out. Luckily, the newsletter dried, and I was able to read the article in its entirety. My response to myself was just like WOW, I want to be a part of this. I quickly created a short email to the Genzyme Marathon Team very briefly describing some of my experiences and asking them to please consider my story and allow me to partner up with a runner. I sent the email on January 4, 2014 with very high hopes of a positive outcome, as I felt I could not have been a better fit. I was a rare disease patient, and I was even a former Patient of the NIH Undiagnosed Diseases Program.
One of the best lessons I had learned from one of my bosses during my short-lived career was that effective employees always reached out and followed up on things. I couldn’t wait until Monday, January 6, 2014 to follow-up, as most people were back to their regular schedules by then. This was one thing I would not let slip by me. I was very fortunate to reach Phil from Genzyme Corporation and excitedly told him some of my story. I had a very good gut feeling. Phil had given me his contact information, and I had sent him a copy of a presentation I had prepared in hopes of getting a New York State piece of legislation passed. The presentation neatly and concisely summarized so much about me and enough about my Disease. After some email exchanges and personal contact, I received my acceptance email that proudly introduced me to my running partner, of all names, Tara as well. We shared the same first name. I knew this was going to be great! I shouted, I screamed, I jumped up and down with joy!
Of course, events like these sometimes overcome you with all sorts of emotions. Floods of thoughts came to the forefront of my mind. There have been so many experiences over time, some filled with gladness and hope, others filled with grief and sorrow. Once again, I thought way back in time. There was the diagnosis of childhood asthma after an extremely severe attack at my cousin’s non-airconditioned house in the height of the summer back in the 1970’s that landed me in the ER. Those were the days of the reliance on ceiling fans, because air conditioners were reserved for those who could truly afford it, and the doctors thought the heat may have contributed to the severity of the attack. Then, there was the incident of a full-blown allergic response after horseback riding during my camp visiting day. Next came the diagnosis of environmental allergies, but there was never any connection between then and now. Things quieted down during my late teen years and early twenties. The next full-blown anaphylactic episode happened during my twenties in an indoor arena at a horse event. Once again, I was treated episodically and sent on my way. I began seeing some allergists, but nothing out of the ordinary surfaced. In my mid-twenties it happened again. It came on fast and furious, the hives on my chest and back, the vomiting, the diarrhea, the facial swelling, the construction of airways and the feeling of being scared to death. The EMT’s carefully monitored me on my way to the ER, with an oxygen mask covering my face. There was the administration of IV Benadryl and a medication for my shortness of breath and this time, education about an EpiPen. My reactions were extremely severe, and it was time to be prescribed an EpiPen. Along with the prescription, once again came the referral to an allergist. My husband, who was my boyfriend at the time, and I sought out some of the best in the field of allergy and immunology. Nothing really was discovered.
Anaphylactic episodes waxed and waned over the years. I was treated with Benadryl and Albuterol and oxygen on the occasions I was taken to the hospital. Reactions came, reactions went. My husband and I got married in 1997. I got pregnant at about 2 years into our marriage and sadly miscarried. I went for a procedure after I miscarried. I came home from the day-op procedure and became violently ill that evening, once again having a full-blown attack. I was taken to the ER for symptomatic treatment. This time, it was Benadryl, albuterol and prednisone. Once again, nothing extraordinary was discovered.
In 2000, I delivered my first child, Jared. Again, reactions came and reactions went. By this point, I was treating myself with Benadryl and an inhaler when the attacks would strike, as none of the doctors who I consulted with diagnosed me with anything different. After having Jared, my husband and I tried to have another baby. For a second time, I sadly miscarried. I then had to undergo the same procedure once more, and once more, I had a full-blown episode that required an ER visit. By this point, the anaphylactic episodes became increased in severity and frequency. In 2004, I delivered my second child, Samantha. After having Samantha, the anaphylactic episodes became more and more frequent and more and more intense. Something horrific was happening, but nobody could tell me what.
On March 31, 2006, I awoke to an extreme transformation. Within days, all of my scalp hair shed, and within a few months all of my body hair had fallen out. Every muscle in my body hurt, and I became severely weakened as the days went on. More and more symptoms appeared, and by this time, I knew I was in trouble. I was affected systemically. I was displaying hypotension, autonomic dysfunction, hypoglycemia and extreme weight loss. I was becoming more and more ill. I just did not know where to turn. The endless doctor visits and countless number of specialist consultations had begun. There were visits to my General Practitioner, Allergists/Immunologists, Dermatologists, Rheumatologists, Gastroenterologists, Cardiologists, Endocrinologists, Pulmonologists, Hematologists, Oncologists, Neurologists, Infectious Disease Specialists, Clinical Nutritionists, to name a few. We would move up the ranks until I was able to be seen by Chief of Staff Doctors, Department Heads or Directors. There were endless and invasive tests and procedures including extensive blood work, CT scans, MRI’s, X-Rays, PET/CT Scans, painful biopsies, bone marrow biopsies, urine collections and other funky tests, depending upon the facility I was at. I visited the Mayo Clinic, Johns Hopkins, NIH, NYU, Cornell Weill, Columbia Presbyterian, Sloan Kettering, Yale, Boston Medical Center and whatever specialist or facility we thought might be able to help unravel this mystery. There were all kinds of diagnoses including Lupus, Mixed Connective Tissue Disease, Lyme Disease, Anorexia, Celiac Disease, Anaphylaxis of Undetermined Origin, Undifferentiated Autoimmune Disease, Alopecia Universalis, Good’s Syndrome, Chronic B-cell Lymphoma, and even Severe Clinical Depression and Chronic Fatigue Syndrome. There were immunomodulation drugs, immunosuppressive drugs, chemotherapy drugs, long-term antibiotics, IVIG, monoclonal antibodies and even a radical thymectomy. Of course, the possible diagnosis of Severe Clinical Depression and Chronic Fatigue Syndrome angered me most. I certainly wasn’t depressed nor was I tired. I was just very, very, very sick. As a matter of a fact, I was gravely ill at certain points and almost to the
point of no return. There were times I knew I flirted with death, but somehow found the strength, courage and determination to carry on.
Throughout all of the test procedures and massive amounts of blood tests, there were only a few things that were abnormal. Blood histamine levels were at times very elevated and my IgE levels were through the roof. Of course, the anaphylactic episodes still continued, and I was becoming more and more malnourished with each passing day. My husband and I spent each free passing moment researching to find some kind of connection. I still continued to consult with doctors, and when I became just too sick to go personally, my extensive medical file went instead, sometimes on a global track. The only thing we knew was that there was a connection with my IgE levels and this grueling multi-systemic illness.
In March 2011, after countless hours of diligent research, especially on behalf of my husband, we found a doctor who was a Mast Cell Disease expert. We had read and reread the possible symptoms and knew the glove fit. As a result of being diagnosed sometimes with the most unfitting diagnoses, we began taking pictures of some of my reactions. So, my bulging medical file, along with my photos, was sent off to one of the few Mast Cell Disease Specialists in the United States of America and even in the world. I was very quickly scheduled for a consultation appointment within days at Brigham and Women’s Hospital at what is now known as The Center of Excellence for Mastocytosis and Mast Cell Activation Disorders. It took years of tears, sorrow, pain, worry, anger, doubt, fear, fright and countless other emotions to within hours finally be diagnosed with a fitting and proper diagnosis. On April 1, 2011, I was diagnosed with Mast Cell Disease. As the tears streamed down my face, I knew in my heart of hearts this was it, but I still asked, “This is not an April Fool’s joke, is it?” It was not. This was the real deal.
After receiving my email acceptance and reading some of the shared stories and posts online, I wondered how I would be able to share years and years of such a tumultuous and crazy journey. I knew I could not possibly share the roller coaster ride that many rare disease patients such as me endure. Throughout the years, I have kept a written account of so much that I have gone through. I have shared with others and have listened to stories of isolation, desolation, ruination, despair, anxiety, yet have also heard tales of bravery, determination, courage, perseverance, fearlessness, heroism, inspiration, hope and the list can go on and on. I knew firsthand how a rare disease can impact you and your loved ones physically, emotionally, socially, psychologically and financially. A rare disease can absolutely rock your world. The time is ripe for me to share with the world, my journey, in hopes that you will be able to see it through my eyes. I am hopeful that my sharing will help others who are battling a rare disease or maybe someone who is battling a mysterious illness and remains undiagnosed or misdiagnosed. I am hopeful that doctors, researchers and scientists will continue their quest to answer so many of the many unanswered questions. I am hopeful that one day, pharmaceutical companies will one day discover a magical drug that will not only help with managing day-to-day symptoms but instead be curative for one of us. I am hopeful that more rare disease patients will be considered for either stem cell or bone marrow transplants, as this is an area that holds so much promise. I am hopeful that one day, I will be the real me once again.
Years ago, I was presented with a dove pendant necklace for my birthday. Upon presentation, I was told, “Don’t worry, Aunt Tazie, one day you’ll be set free.” Every time I think of those words, the tears well up in my eyes. I continue to patiently wait for that day to come. My name is Tara Dove Notrica, and each day I continue to battle Mast Cell Disease. This is my story!
Written by Tara Notrica