"How did you get a diagnosis?"
Getting diagnosed with rare diseases can be extremely difficult and may be an remarkably long journey. Since rare diseases have little to no awareness and often unheard of by most doctors, the diagnosing does not come smoothly. Statistics have it that most patients see an average of 7.3 doctors before receiving the correct diagnosis. In unique cases, some patients may get a precise diagnosis in less than a year, some patients have reported waiting 20 years for their correct diagnosis, while in other unfortunate cases, their diagnosis did not come until after the patient had died. For majority of the rare population, there are delays in getting a correct, positive diagnosis which can cause negative impacts on their health. In my case, it it unknown how long I may have had any of my rare diseases. For each disease, I presented symptoms at birth. Not severe enough to go on the high-chase pursuit of getting the correct diagnoses but eventually it was needed.
April 2011 was my first appointment with an Endocrinologist. I was referred to one by my Pulmonologist (at the time) for some testing as I had suspected Hypoadrenalism due to chronic, long-term use of high dose steroids. Testing came back conclusive, I indeed had Hypoadrenalism/Adrenal Insufficiency. I believe I was diagnosed after a STIM test (ACTH stimulation test). This test is to check the levels of my adrenal and pituitary glands. The results of this test and multiple other tests showed failure of the adrenal glands, cortisol, and ACTH levels, also resulting in Hypoa drena lism.
In May of 2011 I was diagnosed with Allergic Broncho-Pulmonary Aspergillosis. I was diagnosed via a bronchoscopy. Prior to getting this diagnosis, I had been hospitalized roughly eight or nine times within a six month time frame. Four to five of these admissions were in the PICU (Pulmonary Intensive Care Unit). After a loss as to what was happening inside my lungs, a new Pulmonologist who had recently taken over my case scheduled a bronchoscopy looking for anything as an answer. When he looked inside my lungs, that's when we found out why. My lungs were a feasting ground for fungi. The spores were everywhere inside my lungs, and continuing to grow and grow. After I received this diagnosis I was placed on several treatment plans.
In July of 2011 I was diagnosed with Hyperimm unoglobulin E Sy nd ro me . I presented mild symptoms of this disease at birth as well, only worsening as I became older. I had diagnoses of all the issues that are presented along with this disease, so that when levels of my immunoglobulin E came back to be shockingly elevated, an official diagnosis of Hyper IgE was confirmed and a treatment plan for this disease was immediately started as well.
In March of 2014 I was diagnosed with Mitoch o ndrial Disea se. After years and years of looking for answers and getting boat loads of diagnoses, we still knew an enormous part of my puzzle was missing. We just couldn't figure it out. Thankfully, I met with a new Neurologist after I had major disappointments with my specialist before. Traveling out of town, to a new hospital, with a new doctor who I again had to explain my entire life story over to, sounded exhausting, nerve-wracking, and hopefully not a waste of my time. (Spoiler, it wasn't!) He is very knowledgeable in Mitochondrial Disease and eventually diagnosed me with it. Diagnosing Mito can be done based on clinical presentation, or the symptoms you present in clinic, blood tests, or muscle biopsies. My diagnosis came from clinical presentation and blood tests.
Getting diagnosed with rare diseases can be extremely difficult and may be an remarkably long journey. Since rare diseases have little to no awareness and often unheard of by most doctors, the diagnosing does not come smoothly. Statistics have it that most patients see an average of 7.3 doctors before receiving the correct diagnosis. In unique cases, some patients may get a precise diagnosis in less than a year, some patients have reported waiting 20 years for their correct diagnosis, while in other unfortunate cases, their diagnosis did not come until after the patient had died. For majority of the rare population, there are delays in getting a correct, positive diagnosis which can cause negative impacts on their health. In my case, it it unknown how long I may have had any of my rare diseases. For each disease, I presented symptoms at birth. Not severe enough to go on the high-chase pursuit of getting the correct diagnoses but eventually it was needed.
April 2011 was my first appointment with an Endocrinologist. I was referred to one by my Pulmonologist (at the time) for some testing as I had suspected Hypoadrenalism due to chronic, long-term use of high dose steroids. Testing came back conclusive, I indeed had Hypoadrenalism/Adrenal Insufficiency. I believe I was diagnosed after a STIM test (ACTH stimulation test). This test is to check the levels of my adrenal and pituitary glands. The results of this test and multiple other tests showed failure of the adrenal glands, cortisol, and ACTH levels, also resulting in Hypoa drena lism.
In May of 2011 I was diagnosed with Allergic Broncho-Pulmonary Aspergillosis. I was diagnosed via a bronchoscopy. Prior to getting this diagnosis, I had been hospitalized roughly eight or nine times within a six month time frame. Four to five of these admissions were in the PICU (Pulmonary Intensive Care Unit). After a loss as to what was happening inside my lungs, a new Pulmonologist who had recently taken over my case scheduled a bronchoscopy looking for anything as an answer. When he looked inside my lungs, that's when we found out why. My lungs were a feasting ground for fungi. The spores were everywhere inside my lungs, and continuing to grow and grow. After I received this diagnosis I was placed on several treatment plans.
In July of 2011 I was diagnosed with Hyperimm unoglobulin E Sy nd ro me . I presented mild symptoms of this disease at birth as well, only worsening as I became older. I had diagnoses of all the issues that are presented along with this disease, so that when levels of my immunoglobulin E came back to be shockingly elevated, an official diagnosis of Hyper IgE was confirmed and a treatment plan for this disease was immediately started as well.
In March of 2014 I was diagnosed with Mitoch o ndrial Disea se. After years and years of looking for answers and getting boat loads of diagnoses, we still knew an enormous part of my puzzle was missing. We just couldn't figure it out. Thankfully, I met with a new Neurologist after I had major disappointments with my specialist before. Traveling out of town, to a new hospital, with a new doctor who I again had to explain my entire life story over to, sounded exhausting, nerve-wracking, and hopefully not a waste of my time. (Spoiler, it wasn't!) He is very knowledgeable in Mitochondrial Disease and eventually diagnosed me with it. Diagnosing Mito can be done based on clinical presentation, or the symptoms you present in clinic, blood tests, or muscle biopsies. My diagnosis came from clinical presentation and blood tests.