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Posted on 20. March 2014


By Yoni Maisel

It's the catch-22 of rare diseases: By their very nature, these disorders that are so badly in need of treatment are so darned hard to detect. Consult any rare disease organization from the National Organization of Rare Disorders to EURODIS (Rare Diseases Europe) and the National Institutes of Health, and you will see a very disheartening statistic: The time it typically takes from the onset of a rare disease until actual diagnosis takes place averages seven to 10 years.

The typical rare disease patient usually passes through the hands of many physicians and specialists before a proactive and "out-of-the-box" thinker finally says to him or herself: "Something is really wrong here; perhaps deeper investigation is required." It is the nature of the beast with disorders and diseases that affect only one patient out of every 50,000, 250,000 or even a million individuals. Not every doctor knows about them, not every med-school lecture has mentioned them, and not every medical database even contains them.

That seven- to 10-year delay in diagnosis? I have spoken to many patients who have experienced it. From those with common variable immunodeficiency (CVID) and other primary immunodeficiency disorders, to those with muscular dystrophy, multiple sclerosis, Behçet disease, Lynch syndrome and other myriad of extremely rare disorders with extremely unusual names. One shared commonality of those with these conditions is that painful word that they have heard from others leading up to diagnosis: hypochondriac.

Whether chronic pain, frequent unexplained illnesses, trouble with motor coordination, sick days from work and beyond - every pre-diagnosed rare disease patient remembers the doubts of others: "Perhaps it's all just in your head?"

In 2005, I was diagnosed with CVID. In retrospect, according to my immunologists, the disease went undiagnosed for at least a decade prior. During that time, I had one girlfriend in particular who developed what she thought was a pretty cute nickname for me: "hypo" - obviously short for hypochondriac. Whether with repeated pneumonia, high fevers or during any other in a series of endless illnesses, I would hear her utter that horrible word. So much so that I, myself, began to wonder if it was all in my head. From those at work, to friends and even a family member, doubts ranged from exaggeration to downright faking.

It's part of the reason why so many who are finally diagnosed with a rare disease breathe a sigh of relief at the time of diagnosis; it is validation that something quite wrong was the matter the entire time. It's not a case of saying to others "Nah-nah, I was right and you were wrong!" Rather, it's a sigh of relief that "all that I have been going through was not just in my head! It was real."

And that sigh of relief? It's universally accompanied by an intense feeling of gratitude toward that special doctor or doctors who finally connected the pieces of the puzzle and solved the mystery of what has been ailing you.


Comments (7) -

Ramona M.
4:39 PM on Thursday, March 20, 2014

Thank you, thank you!! My ex husband drug me through the mud in our divorce because of my "illnesses" and now that our daughter and granddaughter have cvid he simply has nothing to say. No one knows the bell the we go through, I recently found out I was given IM Ig quarterly from 4 months old until 17 yrs. old, I remember the shots just didn't know what it was, I have been diagnosed since 2008 and just now was told about that, it was "the only way to keep me out of the hospital"?? Well said as always Yoni Smile

Nancy Ross
5:06 PM on Thursday, March 20, 2014

I was diagnosed with CVID at age 58.  Vindication is the word that comes to my mind.  I went to so many doctors and specialists.  Finally, I had a primary care doctor who had seen me with recurring bronchitis a few times and she tested my immune system, referred me to an Immunologist and I have been getting 40 grams of IGG every month since.   It has made such a difference in my life. I'm no longer sick all the time, my gums don't bleed all the time, my nails are stronger.  I only wish I'd been diagnosed at an earlier age.  I worked with a woman who had a serious illness called Jobs Syndrome, from which she eventually died.  I know she thought I was a hypochondriac, but it turned out I was right, I did have a serious illness, but I never got to tell her.

12:38 PM on Saturday, March 22, 2014

I was also not properly diagnosed until I was in my 50's.  There were years and years of mysterious illnesses, hospitalizations and stress.  That terrible 'H' word was either implied or actually used on many occasions, especially as the years piled up with no explanations.  Like many others I'm sure, my diagnosis felt like a triumph.  I was gratified and optimistic about my future.                                                                         In the years since, I have learned that there is still enough mystery and lack of understanding of this disorder to exhaust everyone.  There are still skeptics who seem to imply that I am either the cause of most of my problems or I am simply over-reacting to my maladies in spite of the fact that I now have been diagnosed with 6 serious autoimmune disorders and continue to struggle to maintain a life.  I believe that people just get tired of hearing it and dealing with it, so it's easier to just blame the 'victim'.  Who can blame anyone really..?  Hell, I'm sick of it myself.  It's such old news and takes a lot of time and research just to keep up with it all.                                                                         I am still so thankful for my diagnosis and for the treatment that has improved my life.  Thank God for the day someone finally validated me.  What a great day, but I think I might have been just a little naive in thinking that no one would ever doubt me again or quietly imply that I might be faking, even just a little.

12:49 PM on Saturday, March 22, 2014

Although nobody called me a hypochondriac to my face, perhaps some were thinking it. However, my husband knew something was wrong and pressed doctors for answers, eventually leading to my referral to an immunologist who diagnosed CVID. What a joy to finally have a name to what was going on and a treatment plan. Now, I do my best to educate family and friends what CVID means, but many don't get it because I look fine. But I'll keep trying.

2:30 PM on Saturday, March 22, 2014

Hello, Fortunately, I have a very supportive husband that supports me through IVIg and all the doctor visits. Also, his family. I cannot say the same for my own family; I've been told I should pray more and so on. Great article and blog!

Suzanne Colville
8:19 PM on Thursday, April 03, 2014

I've been ill since birth as a 4 lb. premie who was sent home to die.  Constant pneumonias, bronchitis, URI's, weekly doctor visits and abx.  This was my lifestyle and normal for my entire life.  Hypochondriac was mentioned, Munchasen's syndrome, mental illness, drama queen, etc.  My own children thought I exagerated things, my brother (a pastor) felt that I could work at "something" after I went on total disability.  Currently, I have no support from family or friends.  My CVID dx didn't occur until I was 61 years old, back in 2009.  I've been on IVIG for five years now and still need 500 mg. of azithromycin daily to stay uninfected, I avoid crowds so church, malls, movie theatres, g'kids birthday parties, holiday gatherings are not attended and I still get sick.  It's a very lonely way to live one's life, but I'm still here and hanging in.  The IDF has been a Godsend in helping me to meet others like me, who keep in touch through emails and phone calls.  Without their support, I just don't know where I'd be at this time.  Thanks to all who do understand and reach out to help.

Nynah Mason
6:38 PM on Friday, April 04, 2014

    I've met some of the folks who've contributed to this thread, we are sisters and brothers joined by an uncommon diagnosis  Our lives have many of the same stories - different faces and places but lives filled with misdiagnosis, missed opportunities, missed diagnosis, misunderstanding, missed loves, missed family...we've missed so much.
    And yet the diagnosis when it finally was made came with both sorrow and relief.  Sorrow knowing "normal" was not possible; relief at vindication, understanding and treatment that would
improve our quality of life.  It would also mean doctors had a different starting point when
looking for another occult ailment, understanding that infection was not necessarily
accompanied by fever or the other expected symptoms.  A primary care physician who declines an offer to provide educational material and is reluctant to understand that the patient knows their body's s/s can be replaced before they do the "blame the patient" routine or make a Munchausen's accusation.
     There are still people who choose not to understand and  prefer ignorance or an opportunity to feel superior in their health - they are beyond our ability to teach. There are estranged friends,
family, professional colleagues, casual aquaintences and a few medical professionals. Life goes on and while we are responsible for some things many are beyond our control - I never aspired tohave a chronic illness though some folks don't understand positive thinking has no effect on microbes. The microbes are often in charge.
     I recall sitting on the end of the exam table thinking, "Happy 64th birthday - you have an incurable illness." But the flip side is it doesn't have me...most of the time. It may be delusional but I'm ponderig the possibility of another cross country trip but this time in the slow lane.  I still have a book I want to finish. Love & Blessings, 9

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