By using this site, you agree to the Privacy Policy and Terms of Use.
Accept
Health Works CollectiveHealth Works CollectiveHealth Works Collective
  • Health
    • Mental Health
    Health
    Healthcare organizations are operating on slimmer profit margins than ever. One report in August showed that they are even lower than the beginning of the…
    Show More
    Top News
    grief
    Coping With Depression from Loss After a Preventable Accident
    November 14, 2024
    medical research
    The Key to Medical Progress in Clinical Trials
    March 13, 2025
    HIPPA compliance
    How Medical Office Staff Can Make Your Practice HIPAA Compliant
    October 29, 2021
    Latest News
    7 Most Common Healthcare Accreditation Programs: Which Should You Use?
    August 20, 2025
    Hospital Pest Control and the Fight Against Superbugs
    August 20, 2025
    Hygiene Beyond The Clinic: Attention To Overlooked Non-Clinical Spaces
    August 13, 2025
    5 Steps to a Promising Career as a Healthcare Administrator
    August 3, 2025
  • Policy and Law
    • Global Healthcare
    • Medical Ethics
    Policy and Law
    Get the latest updates about Insurance policies and Laws in the Healthcare industry for different geographical locations.
    Show More
    Top News
    Image
    Emergency Room – Don’t Use It For Primary Care!
    March 19, 2013
    Encouraging Medicare News From Senate Republicans
    March 17, 2012
    chronic disease
    Lifestyles Cause Most Serious Disease and Deaths
    May 25, 2013
    Latest News
    How Social Security Disability Shapes Access to Care and Everyday Health
    August 22, 2025
    How a DUI Lawyer Can Help When Your Future Health Feels Uncertain
    August 22, 2025
    How One Fall Can Lead to a Long Road of Medical Complications
    August 22, 2025
    How IT and Marketing Teams Can Collaborate to Protect Patient Trust
    July 17, 2025
  • Medical Innovations
  • News
  • Wellness
  • Tech
Search
© 2023 HealthWorks Collective. All Rights Reserved.
Reading: New Resources That Will Help Speed Diagnosis of Rare Diseases
Share
Notification Show More
Font ResizerAa
Health Works CollectiveHealth Works Collective
Font ResizerAa
Search
Follow US
  • About
  • Contact
  • Privacy
© 2023 HealthWorks Collective. All Rights Reserved.
Health Works Collective > Diagnostics > New Resources That Will Help Speed Diagnosis of Rare Diseases
DiagnosticsSpecialties

New Resources That Will Help Speed Diagnosis of Rare Diseases

Pam Todd
Pam Todd
Share
8 Min Read
rare diseases
SHARE

rare diseasesThe rare community has made huge strides in the 30 years that have elapsed since the Orphan Drug Act was passed. There are more new treatments and there is more investment in research and more awareness of rare diseases than ever before.

rare diseasesThe rare community has made huge strides in the 30 years that have elapsed since the Orphan Drug Act was passed. There are more new treatments and there is more investment in research and more awareness of rare diseases than ever before. But what about diagnosis?  Are we getting better at diagnosing rare diseases?  The answer is yes and no.

“Obviously there are a lot of newer and better tools to determine the genetic causes of diseases,” says Mary Dunkle, Vice President of Communications for the National Organization for Rare Disorders.  “But if you look at the numbers as far as how long it takes to get a diagnosis, the numbers are more dire than the ones published early on – which leads me to believe we are finding out what we don’t know. Diagnosis is one of the most common reasons people contact us.”

Statistics on Diagnosis: Then and Now

More Read

Quarantine Weight Gain: Should You Worry About It?
Why Primary Care Physicians Are the Next Phase in CCRC Care
New Solutions To Help Solve Juvenile Rheumatoid Arthritis
New Breakthroughs in Gene Therapy are Changing Medicine
What Is Scoliosis? 4 Ways To Treat It

The first study was done in 1989 by the National Commission on Orphan Diseases. Among their findings was this disturbing fact: for nearly 1/3 of patients it took up to 5 years to receive an accurate diagnosis after the onset of symptoms, and 15% of the population waited 6 or more years to be accurately diagnosed.

“NORD did a much smaller study in 2003 that addressed some of the same problems. For 36%, it took one year or longer, for 14% it took 6 years or longer,” Dunkle noted. “The Global Genes and Shire study suggested even longer diagnosis delay. To prepare for this interview, I posted this question on our Facebook page: How long did it take you or your loved one to get a diagnosis? I analyzed the first 174 responses and here is what I came up with. It took 12 percent of these people 3-5 years to get a diagnosis, 20% were diagnosed in 5-10  years, 20% in 10 years or longer. But also, many of them took significantly longer – 35 or even 40 years.”

Why is Diagnosis Such a Hard Problem to Solve?

One of the comments Dunkle received in response to her question on Facebook sums up what it is like to search for a diagnosis: “Five years, many tears, and tons of money.”

Perhaps most heartbreaking of all are the cases that never receive a diagnosis, even after an exhaustive search and consultations with the best specialists in the country. The National Human Genome Research Institute advises parents who are racing the clock, trying to get a diagnosis for their child: “A diagnosis can take as many as five years, and occasionally may never happen, especially with rare conditions.  In addition some experts say that 30% to 40% of special needs children do not have an exact diagnosis.”

Many patients go through multiple misdiagnoses. Rare diagnoses far too often elude physicians who are trained not to think zebra. “There are 7000 of these diseases and it’s not reasonable to expect pediatricians and family physicians to have all of them top of mind,” Dunkle says. “The symptoms are vague and confusing and often look like other diseases; the problems are multi-system. And even physicians who are dedicated are constrained today in how much time they are able to spend with patients.   People ask us, ‘Do you know of a doctor that will take a personal interest in my disease and not rest until he or she gets to the bottom of it?’  But the way our healthcare system is set up it makes that difficult.”

New Developments in Diagnosis of Rare Diseases

The good news is that people are aware of the problem and are working together to solve it. “The NIH Undiagnosed Disease Program was established 5 years ago. Before that we had no place to refer people,” Dunkle says.  “They are preparing to expand that program in the Spring and will be announcing a network of  sites at teaching hospitals around the country. That’s really a wonderful thing!  The first year they only had funding for 200 people. I think NORD alone referred that many.”

Another exciting new development is NORD’s new website that houses physicians’ guides to help healthcare professionals diagnose rare diseases. “We launched it a year ago, but we’re just starting to promote it,” Dunkle says. “We have a dozen guides and several more in development. We recruit authors who are experts on rare diseases, so they are doctors writing to doctors. We have had visitors from more than 130 countries. We’re planning more interaction so physicians can communicate with experts about problems that come out.”

“We had quietly posted the first few guides. But this summer we added one on infantile spasms. We felt strongly about it and were eager to get it out.  There is treatment but the disease is easy to overlook.  Timely diagnosis and treatment will make a huge difference.”

The infantile spasms guide was made possible by a 14-year-old boy, Jacob Maren, who had this seizure disorder in his first year of life and wanted to do something to increase awareness. He raised the money by giving musical concerts. Pfizer provided sponsorship for the Gaucher guide and Genzyme provided an educational grant for the Pompe guide.

“As soon as press releases went out we began to get calls and emails.  It’s exciting, especially when we hear from physicians that they found the guides helpful!” Dunkle added.

Other Resources to Help Diagnose Rare Diseases
In this series of posts, we’ll be taking an in-depth look at others who are working to speed diagnosis of rare diseases. What do you think the challenges are?  Who do you think is doing a good job of addressing them?  What else do you think needs to be done on the diagnosis front?  We’d love to hear your views and comments!

Photo courtesy of City of Albuquerque Open Space on Flickr

TAGGED:rare diseases
Share This Article
Facebook Copy Link Print
Share

Stay Connected

1.5kFollowersLike
4.5kFollowersFollow
2.8kFollowersPin
136kSubscribersSubscribe

Latest News

engineer fitting prosthetic arm
How Social Security Disability Shapes Access to Care and Everyday Health
Health care
August 20, 2025
a woman explaining the document
How a DUI Lawyer Can Help When Your Future Health Feels Uncertain
Public Health
August 20, 2025
physiotherapist at work
How One Fall Can Lead to a Long Road of Medical Complications
Health care
August 20, 2025
Common Healthcare Accreditation Programs
7 Most Common Healthcare Accreditation Programs: Which Should You Use?
Health News
August 20, 2025

You Might also Like

colonoscopy screening
Policy & LawPublic HealthSpecialties

A Ludicrous Colonoscopy Rule and the ACA

October 16, 2013
Specialties

Understanding and Treating Female Hair Loss

May 14, 2018
Importance of Preventative Dental Care
Dental health

The Importance of Preventative Dental Care in Reducing Health Risks

September 16, 2024
national-cancer-institute-701-FJcjLAQ-unsplash
Eye CareSpecialties

FAQs To Empower You with Information About LASIK Eye Surgery

December 18, 2020
Subscribe
Subscribe to our newsletter to get our newest articles instantly!
Follow US
© 2008-2025 HealthWorks Collective. All Rights Reserved.
  • About
  • Contact
  • Privacy
Welcome Back!

Sign in to your account

Username or Email Address
Password

Lost your password?