Autoimmune & Rare Disease “Diagnosis Journey”

Live the Journey

Leave a CommentIt starts with a Primary Care Physician

Based on the structure of the Healthcare System in the United States, for example, patients experiencing abnormal or unusual symptoms usually start their quest for a diagnosis with their “1st level” primary care physician to initiate various “baseline” diagnostic tests and to hopefully obtain medical advice as to their next move which they hope brings them closer to the correct diagnosis.  But quickly diagnosing even the most common autoimmune illnesses such as *Inflammatory Bowel Disease (“IBD”) (*with Crohn’s Disease being an IBD), Rheumatoid Arthritis, Fibromyalgia, Lupus, Multiple Sclerosis, Psoriasis and Type 1 Diabetes is usually very difficult because they are typically beyond the purview and conventional practice of the primary care physician and thus the path to follow for diagnosis and treatment is as amorphous as Matthew McConaughey’s career trajectory which led to his 2014 Best Actor Oscar.  For these reasons, I have always envisioned such a patient as having to embark upon a “Diagnosis Journey.”

In the event a 1st level general health practitioner is unable to correctly diagnosis a patient but nevertheless suspects a medical problem, they typically refer them to a physician who specializes in the area of the patient’s concern.   This would be a good start to the Patient Diagnosis Journey because such a logical pursuit tends to result in an efficient path toward the correct treatment.  But, sometimes, due to the complex and multifaceted makeup of autoimmune and rare diseases or because the patient resides in a rural community and the local doctor is perceived as an expert on all things medical and is “frequently wrong, but never in doubt,” 1st level primary care physicians misdiagnose the patient or they miss the symptoms altogether.  In either instance, the patient’s symptoms could intensify and further confuse the situation such that valuable time and unnecessary suffering ensues and so begins a possibly very difficult Patient Diagnosis Journey.

Word-of-Mouth Referrals to Specialists fuel the Diagnosis Journey

Since there are approximately 50 MILLION Americans affected by autoimmune diseases (Source: American Autoimmune Related Diseases Association – AARDA) and oftentimes these diseases are not diagnosed by the patient’s internist or primary care physician, these patients are eventually properly diagnosed by initiating a Diagnosis Journey usually beginning with referrals to disease specialists based on word-of-mouth recommendations from friends who have some experience with similar health problems or symptoms.  But just as demonstrated above with the patient’s experience with a primary care physician, inaccurate information can make the Diagnosis Journey longer and more costly.  Therefore, in addition to the possibly painful and lethal symptoms of an undetected autoimmune or rare disease, the patient is saddled with the  added burden of efficiently processing a great deal of information from different sources for the purpose of making an informed decision as to the most prolific Diagnosis Journey.  

Real Life Limitations and the Costs of a Diagnosis Journey

The speed with which a patient gets properly diagnosed with an autoimmune or rare disease primarily depends upon the pervasive or serious nature of the current detectable symptoms.  Unless they are debilitating, these symptoms logically affect the patient’s determination and motivation to seek proper treatment.  But access to appropriate specialty physicians, a patient’s financial means and having the available time to initiate the pursuit of a diagnosis are also determinative of the difficulty, duration and “cost” of the Patient Diagnosis Journey.  Moreover, the “cost” of the Patient Diagnosis Journey isn’t only financial as overwhelming feelings of frustration, loneliness and hopelessness can easily be triggered after being doubted and rejected by educated health care professionals who due to a lack of scientific evidence or medical precedent conclude “it’s all in your mind.” The effect of doctors doubting or rejecting legitimate Diagnosis Journey patient symptoms as indicative of an autoimmune or rare disease can also influence the most supportive of close friends and loving family members. The resulting feelings of frustration, loneliness and hopelessness could have severe and possibly long-term psychological effects such as depression and anxiety, each of which can become primary medical problems in addition to the underlying autoimmune or rare disease.  

Significance of the “Journey”

In my next Blog Post I’m sharing my 1984/1985 Diagnosis Journey which led me to Crohn’s Disease so that people facing similar doubters as the ones I encountered will better understand how the “Journey” is just as important as the “Destination” [or “Diagnosis”] when seeking a correct diagnosis and treatment for an illness whose palpable and often debilitating symptoms no one seems to acknowledge except them.  While my Diagnosis Journey lasted only 1-2 years, it involved so many twists and turns and bizarre recurring painful symptoms that I spent much of the time curled up in the fetal position on bathroom floors trying to fend off the fright of abdominal cramps which were as intense as labor pains. 

Mine was a demeaning and embarrassing experience yet with the support of others I learned a great deal about myself and developed the discipline to always remain focused on the “Journey” because I was repeatedly made to believe by seemingly credible health care professionals that there may never be a “Destination” and I just couldn’t, and wouldn’t, accept that. 

The confidence I developed in listening to my body during that grueling Diagnosis Journey has served me well both in life and in dealing with what has unfortunately turned out to be a 30-year case of Severe Crohn’s Disease.  Had I never obtained a diagnosis or reached my “Destination,” at least I would have known I did all I could to help myself.  Ironically, that determination, confidence and self-reliance are the patient “tools” I most rely upon when my Crohn’s Disease tests my resolve and will to live. 

Sadly, failing to obtain a diagnosis is a realistic outcome of a Diagnosis Journey because sometimes the most discernible and unbearable patient symptoms fail to warrant a formal diagnosis as not every group of symptoms is classified as a disease or the diagnosis for a certain combination of symptoms is so rare that it becomes elusive and then meaningless since no significant research is performed to help develop effective treatments.  This is all the more reason to ALWAYS focus on the Journey of a Diagnosis Journey and not on its Destination, i.e., a formal Diagnosis, because the life lessons of the Journey could provide the strength and knowledge required to live a happy and fulfilling life despite such challenging symptoms, whether diagnosed or not.     

***If you have an interesting, instructive or inspirational Diagnosis Journey story, PLEASE leave a Comment and share it so others can benefit from itThe more we share these “Diagnosis Journey” stories the easier it will be for others to pursue answers and treatments for their ailments.

5 responses to “Autoimmune & Rare Disease “Diagnosis Journey”

  1. I was 48 before being diagnosed with Ehlers-Danlos Syndrome, despite lifelong symptoms. And, yes, frequently accused of paying too much attention to my symptoms. Turns out, I wasn’t paying enough attention.

    In my 30s, I was hospitalized repeatedly with atrial fibrillation before doctors thought to look for hyperthyroidism (atrial fib is a classic sign of hyperthyroidism and rare in a woman in her mid-30s). Diagnosed with Graves’ disease, I was subjected to two radioactive iodine treatments. I had to move heaven and earth to convince the endocrinologist that my thyroid was still there and intermittently active, throwing the TSH level, which depends on a “stable” thyroid status, into disarray.

    Ultimately, I prevailed, but I lost a decade of my life to insufficient thyroid replacement, despite objective laboratory evidence that my T3 was well outside the normal range (low). And, yes, the psychological trauma that occurs when your reality is repeatedly questioned and devalued.

    You can read about my journey at

  2. Marilyn Dixon Hill

    Yes I agree with this article. For me the acute onset of pain, ascending paralysis, weakness and cardiac arrythmias was terrifying. I am an RN which made my journey all the more terrifying. It took the hospital four days to get a neurologist but not before they tried to discharge me home as I began to have trouble breathing. Thank God for 2 of my adult children a senior level manager in a fortune 500 co. And a firefighter capt who were present at the time who advocated for me and backed that idiot out of the room. If successful they would have sent me home to suffocate and die in my sleep it would have been a dx of “natural causes” for this 57 yr old RN since I doubt the do spinal taps on corpses. The dx: Guillian Barre. RARE SIDE EFFECT from a flu shot I received 7 days earlier. ” But for the grace of God I nearly died.

  3. Hola Michael, gracias por haber hecho este post, realmente creo que debo escribir esto en español pues seguramente hay muchos de tus seguidores que tienen acceso a esta lengua y pueden transmitir a otros.

    Definitivamente el viaje por el que debemos de pasar todos los que “experimentamos síntomas” con una lógica distinta a las enfermedades conocidas es simplemente muy difícil de describir. En mi historia personal he pasado por múltiples diagnósticos, hoy después de 4 años se que presento “síndrome de estrés post traumático” con una espondilitis anquilosante latente y que todo siempre ha confundido a los doctores para decir que lo que me pasa es “fibromialgia”. Al final del día en mi diagnóstico no hay mucha diferencia en el tratamiento más sin embargo era fundamental conocer la raíz de la enfermedad y a partir de eso hoy en día seguir con la búsqueda de la mejor estrategia para vivir lo mejor posible.

    Mis síntomas son reales, mi cuerpo vive muchos desajustes de manera constante y aunque parecería que todo es “estrés” parece que ni el cuerpo ni la mente y menos el espíritu lo experimentan así. Quizás lo más difícil a lo que me he tenido que enfrentar es a la presencia de “sintomatilogias psicológicas” que entonces parecería que tienen menos importancia que lo fisiológico pues lo más sencillo es decir que son un invento del paciente.

    Los médicos parecen no estar preparados como bien dices para atender enfermedades que requieren no solo píldoras sino una atención integral que le de sentido al nuevo estilo de vida al que deberás enfrentarte y que como bien dices, al menor tiempo posible es mejor… En México este tipo de enfermedades no son cubiertas por los seguros de gastos médicos, para mi fortuna he podido hacerme cargo, sin embargo como lo cuentas, los gastos emocionales y de tiempo son enormes y eso es difícil que en algún momento pudiera costearlo alguien que no tiene apoyo de un buen círculo de soporte.

    Gracias a Dios yo cuento con personas que nunca me han dejado sola, que me aman y han acompañado cada uno de mis pasos, que jamás se han rendido y gracias a eso hoy tengo un diagnóstico real y un tratamiento en el que tenemos mucha fe… Estoy segura que muchas cosas buenas saldrán de esto aún cuando no sea el tiempo más corto.. Lo que muchas veces uno más desearía.

    Aprender a escuchar tu cuerpo, reconocerte como alguien sumamente valioso a pesar de la experiencia de la enfermedad y la voluntad para no rendirse son esenciales… Creo que el vivir “día por día” ayuda muchisimo así como también saber que todos los días hay que hacer más esfuerzos que quienes están sanos pero que eso también le da un sentido muy bueno a la propia vida. Ahora el disfrute es con mayor intensidad, ahora agradeces todos tus momentos buenos y eres capaz de empalizar con el dolor y la enfermedad en otros… Acompañar a alguien que también necesita de tu mano.

    Quizás la vida tiene más sorpresas de las que parece tener… Este viaje también me ha enseñado que la fragilidad de mi vida ha sido mi mayor fortaleza pues en mi interior es donde he encontrado el mejor consuelo, las más grandes fuerzas y sueños.. La energía para seguir día a día y buscar bailar y fluir con la enfermedad crónica.

    Gracias Michael!! Te quiero!

  4. What I have had to wrap my head around with my naturpath is not receiving a “diagnosis” of a named disease. In the “Western” world with always want the “why” and a “named disease” when half the time our doctor doesn’t really know the cause. In natural medicine they treat the imbalance of the whole. I remember going to the doctor years ago complaining of extreme fatigue. The doctor’s response, “Oh well, you’re a single working mom.” Boy, that helped a lot 🙁 Looking back I know see that I’ve been unhealthy for a long time. Thanks to my naturpath, herbs, and acupuncture I’m correcting that.

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