Why Is It Important Your Rare Disease Has A Name? ….It Gives You Validation!

We all know how important it is to be validated.

For those of us with rare diseases, or any undiagnosed chronic illness, being validated often means having a specific name for our diseases.

Sometimes though there are diseases, recognised by the medical profession, that simply don’t have names. They are often called “idiopathic” as they fall into a league of their own. They can be caused by a mutant gene or be a combination of a few diseases, making it difficult for a doctor or specialist to categorically say its such and such disease. It’s idiopathic because it is literally a “disease of its own kind”.

In these extreme rare situations, it’s really important to recognise the patient is completely validated. Their symptoms, blood test results, scans etc, all show evidence of a severe disease process ,often progression,  and there is no question their disease at least falls into a diagnostic category.

I fall into this situation and while I would obviously prefer not to have such a horrific encyclopaedia of tangible disease evidence, it has helped with my chronic illness journey. I have always been validated and felt validated by the medical profession, friends and family.

One of my allied health carers said to me this week, “Sam, it must be so hard having a rare disease without a specific disease name”.

My response was easy….

” No not at all. I feel completely validated and fully diagnosed. My broken pathological femur xray alone is absolute evidence of my disease, along with my multiple fractures throughout my body, my “art gallery” of xrays, MRIs, bone scans all showing bone disease activity and my low bone turnover blood tests and my high bone density scans. My body screams rare bone disease at every corner”

The Day My Femur Pathologically Broke As I Walked To My Bedroom Door

Some of my doctors have even used my case for their medical conference presentations.

So for me, just knowing it’s an idiopathic rare bone disease, is more than enough validation. In fact, in my case, it has always been enough to be accepted by Government agencies, Insurance companies etc.

For Many A Name is Essential

I am so aware many of my readers are in a different place to me when it comes to requiring a specific disease name, as symptoms and test results are not as clear cut. My heart goes out to you as I know your experience with the medical profession can be, and has been, less than supportive and some stories are just horrific.

I recently learned about Munchausen Syndrome. It’s a diagnosis many searching for answers, regarding their chronic illness, are given if no easy answer presents.

While it may be an appropriate diagnosis for a select few, more often than not these patients are validated in the future with specific diseases, as their test results begin to show positive results, or correct investigational tests are actually conducted by doctors who do believe their patient is complex.

In the meantime often serious damage has been done to the patient who has been made to feel like a hypochondriac.

It’s really important to make the distinction between having a diagnosed Idiopathic disease, like I have, and not being given a diagnosis at all. I often hear members in my forum feeling disappointed and invalidated if they are given an Idiopathic diagnosis. You are validated. We just can’t always get a specific and known disease name. You are definitely not being given a “Munchausen” diagnosis.

Munchausen syndrome is a factitious disorder, a mental disorder in which a person repeatedly and deliberately acts as if they have a physical or mental illness when they are not really sick. Munchausen syndrome is considered a mental illness because it is associated with severe emotional difficulties.

Munchausen syndrome, named for Baron von Munchausen, an 18th century German officer who was known for embellishing the stories of his life and experiences, is the most severe type of factitious disorder. Most of the symptoms in people with Munchausen syndrome are related to physical illness — symptoms such as chest pain, stomach problems, or fever — rather than those of a mental disorder.

http://www.webmd.com

If you have been told you have an Idiopathic disease, the only difficulty is generally it’s hard to treat as there are no previous cases to refer to. Trialling medications can be dangerous. It can be safer not to attempt any kind of treatment given the complexity and often unknown cause of the disease. A watch and wait approach is often adopted.

My medical team are still trying to investigate my case. They want to try and slow the progression of my disease, if possible. We also know the type of disease I have and the pathological pattern it’s following. On some scans it has a malignant pattern involving my bone marrow. It doesn’t mean it’s cancer but it has the same components on MRIs. It’s why I occasionally have a Hematologist/Oncologist on my team.

A New Investigation – Hypophosphatasia

You may remember while I was in Hospital late last year, my Drs organised a bone biopsy from my hip to be sent to a world renowned bone Specialist based in Sydney. He specialises in metabolic bone diseases.

The week before Christmas I finally got the result…..severe bone disease with low bone turnover but unexpectedly he said the bones were soft, not hard.

They have always been hard on none density scans and it’s how my Surgeons have found them when they have been operating on my fractures. Also when you have low bone turnover, the bone disease generally does have hard bone not soft bone.

A new quandary presented to my medical team.

This led my Endocrinologist to ask me to have a fresh Bone Density Scan, which I managed to do 2 weeks ago. She wanted these results to be able to discuss my case further with the Professor analyzing my bone biopsy.

The Bone Density Scan still showed high bone density!

Yesterday I received an email from my Endocrinologist to say she’s been in touch with the bone biopsy specialist. He has suggested we exclude a disease called Hypophosphatasia. Testing involves blood / urine tests so its not difficult. I have to start a vitamin C supplement for 1 week prior to having the tests done.

The test has all been arranged for me at home, so thankfully no need to try and figure out how to travel given I am still severely disabled from my acute disease episode last September.

Hypophosphatasia is a rare complex disease and much of my disease progression so far fits the description. However my symptoms still fit other diseases too. Hypophosphatasia disease needs to be excluded so we can try and treat me with Bisphosphonate medication. We can’t try without excluding as these meds would apparently make hypophosphatasia worse.

A diagnosis of Hypophosphatasia wouldn’t change my circumstances or my treatment. There is still no cure or treatment.

All we would have is a specific disease name rather than an Idiopathic “rare bone disease” caused by a mutant gene diagnosis.

What’s in a name?

So much for so many searching for and deserving of a diagnosis, even an idiopathic diagnosis.

For me, I’ll be just fine with my Idiopathic rare disease diagnosis or a specific rare disease name. I’m validated either way and I recognise such validation is an amazing gift.

World Rare Disease Day

Monday February 28th is world Rare Disease Day.

It’s the opportunity to raise awareness of known rare diseases, as well as educate anyone prepared to listen how hard it can be to arrive at a diagnosis and receive necessary validation.

An estimated two million Australians live with a rare disease There is so much more to rare disease than small numbers. Here is a snapshot of the facts about rare disease:

https://www.rarediseasedayaustralia.com.au/what-is-a-rare-disease/
  • The most widely accepted definition is that a rare disease is one that affects less than five in 10,000 people. 
  • While estimates of the number of rare diseases may vary between countries and studies, due to differing definitions and challenges with data collection, it is prominently cited that there are more than 7,000 different rare diseases.
  • Approximately 80 per cent of rare diseases are of genetic origin.
  • Approximately eight per cent of Australians live with a rare disease. Extrapolated to an Australian population of over 25 million people, this equates to around two million Australians. “
Note: the information above is based on Commonwealth of Australia (Department of Health) material – the National Strategic Action Plan for Rare Diseases (page 9).”

There is so much work required globally to ensure a prompt and correct diagnosis is made for rare disease sufferers. Still so much work required to ensure patients are validated when seeking a diagnosis.

I hope this year on Rare Disease Day we will make a difference. I hope you will make a small difference by taking the time to validate a loved one, a friend, searching for answers.

Thank you

Sam xx

Coming Soon….My book “My Medical Musings”, is being published by Imaginewe Publishers. Pre-release sale will be available in March 2022

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4 thoughts on “Why Is It Important Your Rare Disease Has A Name? ….It Gives You Validation!

  1. I was Dx with a rare (1 case per million at the time) disease in 1998. Luckily for patients it was discovered and named in 1968. It is called Macaulay’s Disease or Lymphomatoid Papulosis. That’s a mouthful! It is also known as LyP. LyP is chronic but it isn’t lethal.

    Liked by 1 person

    1. It’s amazing how many diseases seemed to be discovered in the mid to late 60s. Some real ground breaking work was being done. I’m glad you received a definite diagnosis Nikki. I hope you are able to manage it ok xx

      Like

  2. I take for granted that I know what I have. Even when I do not know for certain, it is a fairly easy guess. I think naming it gives me agency to direct it and a shortcut to explain it. I cannot imagine not knowing. I feel for you and cannot imagine not knowing.

    Liked by 1 person

    1. I do know Rick so I’m ok. It’s definitely an Idiopathic rare bone disease. My heart absolutely goes out to those who have not being diagnosed at all but continue to suffer debilitating symptoms day in and day out. 😢

      Like

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