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In Need of Diagnosis: Help for Challenging Cases

Posted by | 3:40pm on Monday, November 4, 2013

We have a medical system that can sometimes hinder diagnosis 

As part of our series on diagnosis, I recently had the opportunity to interview Rebecca Hollingsworth, Administrator of In Need of Diagnosis, Inc. (INOD) about her organization’s approach to diagnosis and its advocacy efforts.

Where it all began

In Need of Diagnosis, Inc. was founded by Marianne Genetti in 2006. Genetti, an undiagnosed patient with a rare disorder herself, created this non-profit to help people in similar circumstances following a chance meeting with a physician at a National Organization for Rare Disorders conference. The main purpose of the volunteer-based organization is to serve as a resource center for people with diseases that are yet to be accurately diagnosed and to promote changes in the medical delivery system that will help to increase both accuracy and timeliness of diagnosis.

Who is being helped?

INOD receives hundreds of requests for assistance each year with over five hundred in the first quarter of this year alone. “When we receive a request, we acknowledge it right away but it typically takes sixteen weeks for a response.” Part of the reason for the four month timeline from request to response is that the request volume exceeds volunteer bandwidth. Another reason is that the responses are researched and well thought through. It is very important the responses be as complete and personalized as possible. “People who reach out to us have three commonalities – one: they have been labeled a hypochondriac, two: they have been linked to a mental health issue and three: they are all very frustrated and on the verge of giving up.” A response to a request might include referring the individual to a specialized physician in their area or matching the person up with a clinical trial or a partner organization.

According to Hollingsworth, “Social media has been a big (positive) change. There’s more emphasis on social now so we have a wider reach.” INOD’s reach is global for sure. “Out of over five hundred total requests in first quarter, eighty-five were international requests — thirty-four from the U.K., twenty-seven from Asia, twenty one from Canada and three from the Middle East.”

Good data is key

Because INOD acts as a resource center, it has a vast network of physicians and partner organizations to draw from. But good data is also a key factor. An exciting undertaking by INOD is the development of a signs and symptoms database searchable by symptom, age and zip code. “The database will have seven years’ worth of data and will be the first of its kind to include environmental factors—information we are collecting from the United States Environmental Protection Agency (EPA).” Hollingsworth hopes to have the database complete by next summer and would like for her database to be the start of something big such as a national registry of undiagnosed diseases.

“There is no registry that helps people get diagnosed and we sorely need one”, Hollingsworth says. In April of this year, INOD co-sponsored H.R. 1591: CAL Undiagnosed Diseases Research and Collaboration Network Act of 2013 a bill that, if passed into law, would require the Secretary of Health and Human Services (HHS) to establish and maintain an undiagnosed diseases registry. The bill was created with input from the National Institutes of Health (NIH) and the Center for Disease Control (CDC). The registry would help facilitate early recognition, prevention, treatment, cure and control of rare diseases.

INOD sees the need for creating other databases too. Examples include a substances database that contains the signs and symptoms associated with the use and misuse of foods, herbs, and medications. Another is the comparison database that would contain information collected from previously diagnosed individuals. The aim is for the undiagnosed individual to be provided with information about which disorders had signs and symptoms similar to their own, potentially narrowing their search. They could then look back and see what path the diagnosed person took and use that information to move themselves forward.

Advocating for systemic change

INOD takes a holistic approach to diagnosis working with functional medicine practitioners and The Institute for Functional Medicine. They have an advisory board of medical doctors and Doctors of Osteopathic Medicine (DO) and partner with organizations like Syndromes Without A Name (SWAN) and the National Institutes of Health.

We have a medical system that can sometimes hinder diagnosis. For example, there is no such thing as a doctor who specializes in diagnosis. It’s still a bit of guesswork that frequently leads to misdiagnosis and impacts healthcare, quality of life, and insurance premiums.” Another example she cites is the lack of a diagnosis code with the meaning “diagnosis unknown”. Doctors are forced to assign an inaccurate code which can perpetuate diagnosing problems down the line. INOD would like to change these things.

For more information

At the time of her death earlier this year, Marianne Gianetti was still awaiting diagnosis but her dream of helping others like herself lives on. Are you pursuing a diagnosis for yourself or a loved one? For additional information, or to lend support, please contact Rebecca Hollingsworth at 407-894-9190 or visit www.inod.org, click on “Need Help” and submit the help form.

What do you think? What changes in the medical system might help make the path to diagnosis shorter?

Editor’s note: We just received word that INOD has been chosen as one of the top 2013 non-profits. This is the second year in a row that they have received this honor.

Photo courtesy of LaPrimaDonna on Flickr.

About Stephanie McDonald

As Assistant to the President, Stephanie interfaces with all the departments at Siren. She has been with Siren for over five years and has a background in marketing, logistics and business development. Stephanie has an MBA from the University of Illinois.

View other posts from Stephanie

  • http://twitter.com/Neil_Rubenstein/status/397464433720430592/ Neil Rubenstein (@Neil_Rubenstein)

    Read about “In Need of Diagnosis: Help 4 Challenging Cases” on Siren Song: http://t.co/mBRTrwg5C5 #RareDisease #RarePOV via @SirenInteract

  • http://www.inod.org Rebecca Hollingsworth

    Thank you much for assisting in getting the word out about INOD. So happy with the article. I will share feedback that I get and of course keeo you informed as to the continued sucess of INOD! Thank you!

  • http://twitter.com/EMiaouli/status/397504725853437952/ @EMiaouli

    Η αμερικανική Μ.Κ.Ο. INOD βοηθάει ασθενείς που ψάχνουν για διάγνωση / In Need of Diagnosis #rarediseases: http://t.co/enxbSpxC4I

  • http://twitter.com/spanioi/status/397524011464531968/ @spanioi

    RT @RareDiseasesGr: Η αμερικανική Μ.Κ.Ο. INOD βοηθάει ασθενείς που ψάχνουν για διάγνωση / In Need of Diagnosis #rarediseases: http://t.co/…

  • http://twitter.com/Primary_Immune/status/397641022118715392/ @Primary_Immune

    “In Need of #raredisease Diagnosis: Help for Challenging Cases” on Siren Song: http://t.co/tsKxcTw4HD

  • http://twitter.com/RareDiseases/status/398177818611576832/ @RareDiseases

    @INODorg great piece about helping #raredisease patients in the most important step–diagnosis http://t.co/4HDu4chPkc

  • Nedra Edwards

    I have an undiagnosed condition and im in so much pain and unable to work please help me 419 261 8769, it feels like my organs are fighting me from inside, they are jerking around and my abdomen distended look like im 8mos pregnant. My life is ruined, unless I can find answers.

  • Nedra Edwards

    They just dont seem to know whats wrong with me, follow me on Twitter, medical bullying victim

  • Nedra Edwards

    Its so “rare” no one knows anything??? Yet there is a plethora of info on abdominal and prolonged pregnancy, its just mine is a combination of both, yet docs say they dont see what I feel kicking me every day, and what me, my daughter saw and tech denied seeing. I been fighting for answers every since, finding more women experiencing the same symptoms, ck out cryptic pregnancy

  • Nedra Edwards

    Im tryn to blow the whistle on my docs, but no one wants to give credibility to my patient advocacy efforts, I rented my own ultrasound machine and fetal doppler, cfdna test was positive for boy…my health is failing. ..I cant get my medical records for the abdominal mesh that has desentigrated in my abdomen…if someone dont help me they will continue to get away with this, many other women are suffering the same fate

  • Nedra Edwards

    What they are comitting is insurance fraud, mis diagnosis or no diagnosis and no treatment, they give no weight to their own science, just because the traditional pregnancy test was negative the klienbauerbetke test was positive for fetal DNA, my docs said it was just for entertainment, but I dont have 300 for entertainment and Nimble Diagnostics is a reputable company, I cked the problem is I didnt need a script so its no good????

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