Day 29, Cushing’s Awareness Challenge 2016

People sometimes ask me how I found out I had Cushing’s Disease.  Theoretically, it was easy.  In practice, it was very difficult.

Ladies Home Journal, 1983In 1983 I came across a little article in the Ladies Home Journal which said “If you have these symptoms…”

I found the row with my symptoms and the answer read “…ask your doctor about Cushing’s”.

After that article, I started reading everything I could on Cushing’s, I bought books that mentioned Cushing’s. I asked and asked my doctors for many years and all of them said that I couldn’t have it.  It was too rare.  I was rejected each time.

Due to all my reading at the library, I was sure I had Cushing’s but no one would believe me. My doctors would say that Cushing’s Disease is too rare, that I was making this up and that I couldn’t have it.

In med school, student doctors are told “When you hear hoofbeats, think horses, not zebras“.

According to Wikipedia: “Zebra is a medical slang term for a surprising diagnosis. Although rare diseases are, in general, surprising when they are encountered, other diseases can be surprising in a particular person and time, and so “zebra” is the broader concept.

The term derives from the aphorism “When you hear hoofbeats behind you, don’t expect to see a zebra”, which was coined in a slightly modified form in the late 1940s by Dr. Theodore Woodward, a former professor at the University of Maryland School of Medicine in Baltimore.  Since horses are the most commonly encountered hoofed animal and zebras are very rare, logically you could confidently guess that the animal making the hoofbeats is probably a horse. By 1960, the aphorism was widely known in medical circles.”

So, doctors typically go for the easily diagnosed, common diseases.  Just because something is rare doesn’t mean that no one gets it.  We shouldn’t be dismissed because we’re too hard to diagnose.

When I was finally diagnosed in 1987, 4 years later, it was only because I started bleeding under the skin. My husband made circles around the outside perimeter each hour with a marker so my leg looked like a cut log with rings.

When I went to my Internist the next day he was shocked at the size of the rings. He now thought I had a blood disorder so he sent me to a Hematologist/Oncologist.

Fortunately, that new doctor ran a twenty-four hour urine test and really looked at me and listened to me.  Both he and his partner recognized that I had Cushing’s but, of course, couldn’t do anything further with me.  They packed me off to an endo where the process started again.

My final diagnosis was in October, 1987.  Quite a long time to simply  “…ask your doctor about Cushing’s”.

Looking back, I can see Cushing’s symptoms much earlier than 1983.  But, that ‘s for a different post.

 

Day 4, Cushing’s Awareness Challenge 2016

This is one of the suggestions from the Cushing’s Awareness Challenge post:

“Give yourself, your condition, or your health focus a mascot. Is it a real person? Fictional? Mythical being? Describe them. Bonus points if you provide a visual!”

 

Our “Official mascot” is the zebra.

Our mascot

Our mascot

In med school, student doctors are told “When you hear hoofbeats, think horses, not zebras“.

According to Wikipedia: “Zebra is a medical slang term for a surprising diagnosis. Although rare diseases are, in general, surprising when they are encountered, other diseases can be surprising in a particular person and time, and so “zebra” is the broader concept.

The term derives from the aphorism ‘When you hear hoofbeats behind you, don’t expect to see a zebra’, which was coined in a slightly modified form in the late 1940s by Dr. Theodore Woodward, a former professor at the University of Maryland School of Medicine in Baltimore.  Since horses are the most commonly encountered hoofed animal and zebras are very rare, logically you could confidently guess that the animal making the hoofbeats is probably a horse.

zebra-mug

A zebra cup my DH bought me 🙂

By 1960, the aphorism was widely known in medical circles.”

Why? Because those of us who DO have a rare disorder know from personal experience what it feels like to be dismissed by a doctor or in many cases, multiple doctors. Many physicians have completely lost the ability to even imagine that zebras may exist!  Cushing’s is too rare – you couldn’t possible have that.  Well… rare means some people get it.  Why couldn’t it be me?

Although one of my signature images has a zebra, many have rainbows or butterflies in them so I guess that I consider those my own personal mascots.

I posted this in 2010 in 40 Days of Thankfulness: Days Twenty-Two through Thirty

I have a special affinity for rainbows. To me, a rainbow is a sign that things are going to be ok.

Years ago, our little family was in Florida. I felt guilty about going because my dad was terminally ill with his second bout of colon cancer. I was worried about him and said a little prayer for him.

I was lying on the beach while DH and our son were in the ocean and I looked up and saw a rainbow. It was a perfectly clear, sunny afternoon. I even called the people out of the water, in case it was something I wanted to see that didn’t really exist. They saw it, too.

Where in the world did that rainbow come from, if it wasn’t a sign that everything would be ok?

Butterflies are something else again.  I like them because I would like to think that my life has evolved like a butterfly’s, from something ugly and unattractive to something a big easier on the eye.

My Cushie self was the caterpillar, post-op is more butterfly-ish, if not in looks, in good deeds.

From July, 2008

For as long as I can remember, I’ve loved butterflies for their beauty and what they stood for. I’ve always wanted to shed my cocoon and become someone else, someone beautiful, graceful.

One of my first memories as a kid was knocking on the back door of my house and when my mom answered, I’d pretend to somehow be an orphan, looking for some kind person to take me in. And I would try to be that different child, with new habits, in the hopes that my parents would somehow think better of me, love me more as this poor homeless kid than they did as their own.

The butterfly was trying to emerge but it never got too far. Somehow, I would slip into my original self and be a bother to my parents.

Hope springs eternal, though!

Day Thirteen, Cushing’s Awareness Challenge 2015

This is one of the suggestions from the Cushing’s Awareness Challenge post:

“Give yourself, your condition, or your health focus a mascot. Is it a real person? Fictional? Mythical being? Describe them. Bonus points if you provide a visual!”

Our “Official mascot” is the zebra.

Our Cushie mascot

In med school, student doctors are told “When you hear hoofbeats, think horses, not zebras“.

According to Wikipedia: “Zebra is a medical slang term for a surprising diagnosis. Although rare diseases are, in general, surprising when they are encountered, other diseases can be surprising in a particular person and time, and so “zebra” is the broader concept.

The term derives from the aphorism ‘When you hear hoofbeats behind you, don’t expect to see a zebra’, which was coined in a slightly modified form in the late 1940s by Dr. Theodore Woodward, a former professor at the University of Maryland School of Medicine in Baltimore.  Since horses are the most commonly encountered hoofed animal and zebras are very rare, logically you could confidently guess that the animal making the hoofbeats is probably a horse.

zebra-mug

A zebra cup my DH bought me 🙂

By 1960, the aphorism was widely known in medical circles.”

Why? Because those of us who DO have a rare disorder know from personal experience what it feels like to be dismissed by a doctor or in many cases, multiple doctors. Many physicians have completely lost the ability to even imagine that zebras may exist!  Cushing’s is too rare – you couldn’t possible have that.  Well… rare means some people get it.  Why couldn’t it be me?

 

 

 

Although one of my signature images has a zebra, many have rainbows or butterflies in them so I guess that I consider those my own personal mascots.

I posted this in 2010 in 40 Days of Thankfulness: Days Twenty-Two through Thirty

I have a special affinity for rainbows. To me, a rainbow is a sign that things are going to be ok.

Years ago, our little family was in Florida. I felt guilty about going because my dad was terminally ill with his second bout of colon cancer. I was worried about him and said a little prayer for him.

I was lying on the beach while DH and our son were in the ocean and I looked up and saw a rainbow. It was a perfectly clear, sunny afternoon. I even called the people out of the water, in case it was something I wanted to see that didn’t really exist. They saw it, too.

Where in the world did that rainbow come from, if it wasn’t a sign that everything would be ok?

Butterflies are something else again.  I like them because I would like to think that my life has evolved like a butterfly’s, from something ugly and unattractive to something a big easier on the eye.

My Cushie self was the caterpillar, post-op is more butterfly-ish, if not in looks, in good deeds.

From July, 2008

For as long as I can remember, I’ve loved butterflies for their beauty and what they stood for. I’ve always wanted to shed my cocoon and become someone else, someone beautiful, graceful.

One of my first memories as a kid was knocking on the back door of my house and when my mom answered, I’d pretend to somehow be an orphan, looking for some kind person to take me in. And I would try to be that different child, with new habits, in the hopes that my parents would somehow think better of me, love me more as this poor homeless kid than they did as their own.

The butterfly was trying to emerge but it never got too far. Somehow, I would slip into my original self and be a bother to my parents.

Hope springs eternal, though!

 

Day 6: Cushing’s Awareness Challenge 2015

People sometimes ask me how I found out I had Cushing’s Disease.  Theoretically, it was easy.  In practice, it was very difficult.

Ladies Home Journal, 1983In 1983 I came across a little article in the Ladies Home Journal which said “If you have these symptoms…”

I found the row with my symptoms and the answer read “…ask your doctor about Cushing’s”.

After that article, I started reading everything I could on Cushing’s, I bought books that mentioned Cushing’s. I asked and asked my doctors for many years and all of them said that I couldn’t have it.  It was too rare.  I was rejected each time.

 

 

Due to all my reading at the library, I was sure I had Cushing’s but no one would believe me. My doctors would say that Cushing’s Disease is too rare, that I was making this up and that I couldn’t have it.

In med school, student doctors are told “When you hear hoofbeats, think horses, not zebras“.

According to Wikipedia: “Zebra is a medical slang term for a surprising diagnosis. Although rare diseases are, in general, surprising when they are encountered, other diseases can be surprising in a particular person and time, and so “zebra” is the broader concept.

The term derives from the aphorism “When you hear hoofbeats behind you, don’t expect to see a zebra”, which was coined in a slightly modified form in the late 1940s by Dr. Theodore Woodward, a former professor at the University of Maryland School of Medicine in Baltimore.  Since horses are the most commonly encountered hoofed animal and zebras are very rare, logically you could confidently guess that the animal making the hoofbeats is probably a horse. By 1960, the aphorism was widely known in medical circles.”

So doctors typically go for the easily diagnosed, common diseases.  Just because something is rare doesn’t mean that no one gets it.  We shouldn’t be dismissed because we’re too hard to diagnose.

When I was finally diagnosed in 1987, 4 years later, it was only because I started bleeding under the skin. My husband made circles around the outside perimeter each hour with a marker so my leg looked like a cut log with rings.

When I went to my Internist the next day he was shocked at the size of the rings. He now thought I had a blood disorder so he sent me to a Hematologist/Oncologist.

Fortunately, he ran a twenty-four hour urine test and really looked at me and listened to me.  Both he and his partner recognized that I had Cushing’s but, of course, couldn’t do anything further with me.  They packed me off to an endo where the process started again.

My final diagnosis was in October, 1987.  Quite a long time to simply  “…ask your doctor about Cushing’s”.

Looking back, I can see Cushing’s symptoms much earlier than 1983.  But, that ‘s for a different post.

 

The Rare Disease Search Engine That Outperforms Google

A powerful new search engine designed to help diagnose rare diseases could prove a boon for both medics and the public.

In the late 1940s, a professor at the University of Maryland School of Medicine coined an unusual phrase to describe unexpected diagnoses. “When you hear hoofbeats behind you, don’t expect to see a zebra,” he said. The phrase stuck and today, medics commonly use the term “zebra” to describe a rare disease, usually defined as one that occurs in less than 1 in 2000 of the population.

Rare diseases are inherently hard to diagnose. According to the European Organisation for Rare Disease, 25 per cent of diagnoses are delayed by between 5 and 30 years.

So it’s no surprise that medics are looking for more effective ways to do the job. An increasingly common aid in this process is the search engine, typically Google.  This forms part of an iterative process in which a medic enter symptoms into a search engine, examines lists of potential diseases and then looks for further evidence of symptoms in the patient.

The problem, of course, is that  common-or-garden search engines are not optimised for this process. Google, for example, considers pages important if they are linked to by other important pages, the basis of its famous PageRank algorithm. However, rare diseases by definition are unlikely to have a high profile on the web. What’s more, searches are likely to be plagued with returns from all sorts of irrelevant sources.

Today, Radu Dragusin at the Technical University of Denmark and a few pals unveil an alternative. These guys have set up a bespoke search engine dedicated to the diagnosis of rare diseases called FindZebra, a name based on the common medical slang for a rare disease. After comparing the results from this engine against the same searches on Google, they show that it is significantly better at returning relevant results.

The magic sauce in FindZebra is the index it uses to hunt for results. These guys have created this index by crawling a specially selected set of curated  databases on rare diseases. These include the Online Mendelian Inheritance in Man database, the Genetic and Rare Diseases Information Center and Orphanet

They then use the open source information retrieval tool Indri  to search this index via a website with a conventional search engine interface. The result is FindZebra.

Finally, they compared the results of  searches on FindZebra against the same search on Google applied to the same limited dataset, a feature that is possible with advanced Google searches.  Dragusin and co say that the Google results are significantly worse than their own.

For example, on FindZebra the search query “Boy, normal birth, deformity of both big toes (missing joint), quick development of bone tumor near spine and osteogenesis at biopsy” returns the correct diagnosis “Fibrodysplasia ossificans progressiva” as the first result. However, this diagnosis does not appear at all in the results from any type of Google search.

This indicates that the PageRank algorithm, or at least the way Google has tweaked it, is not suited to this kind of search. “Our finding, that FindZebra outperforms Google overall for this task and especially when restricted to the sites of our collection (Google Restricted), suggests that Google ranking algorithm is suboptimal for the task at hand,” they conclude.

Although still a research project, Dragusin and co have made their rare disease search engine publicly available at www.findzebra.com. This could clearly become a valuable tool for the medical community.

What is less clear, however, is how this tool will be used by the general public. The site comes with the forlorn message: “Warning! FindZebra is a research project and it is to be used only by medical professionals” .

FindZebra could obviously be a hypochondriac’s charter. On the other hand, that’s true of any medical dictionary.

The informed public are increasingly visiting their doctors armed with detailed information downloaded form the internet.  Any move to improve the quality of this information must surely be of significant value.

Ref: arxiv.org/abs/1303.3229: FindZebra: A Search Engine For Rare Diseases

From TechnologyReview.com

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