Posted by Pamela Todd | 1:21 pm on Tuesday December 03, 2013 |
Heather Long believes that far more cases would be diagnosed if there was a better system of communication in place
Most rare disease patients spend a good portion of their lives coping with a condition that is either undiagnosed or misdiagnosed. Some of them die of a disease that has yet to be named. Heather Long’s son, Cal, was one of them. After years of searching for answers, she lost her son at the age of 5 to a disease that had never been diagnosed. Since then, she has made it her life’s work to help others caught in this heartbreaking situation.
In 2008, Heather Long founded an organization called U. R. Our Hope, with Mary Elizabeth Parker, PT, PhD, PCS, NCS, a healthcare professional and professor at Texas State University. It is 1 of the few organizations that support undiagnosed patients. In Need of Diagnosis and Syndromes Without a Name also help undiagnosed patients, but U.R. Our Hope is the only 1 that supports both children and adults. Read More
Posted by Anonymous | 12:23 pm on Wednesday November 27, 2013 |
Don’t tell me it’s going to be alright
I am a somewhat happy mother of 2 beautiful children, whom I love most days. I am happily married, again on most days. When I was 7-months pregnant with my second child, I learned that my first child has a rare genetic disease called CACH/VWM, which is a leukodystrophy. There is no cure or treatment. When diagnosed, my child was given 2 years to live. That was 5 years ago.
I have decided to remain anonymous for personal reasons. Mainly, because I worry about my daughter finding out she has a terminal illness. And also, I don’t want to be labelled as a mother with a dying child. I am like anyone else, a mother. As National Caregivers Month draws to a close, I wanted to share my thoughts on what to say—and what not to say—to people who are caring for a child with a life-threatening illness. Read More
Posted by Pamela Todd | 10:34 am on Friday November 22, 2013 |
Diagnosis is different than just search
If you are trying to diagnose a rare disease, plugging symptoms into Google will probably not be very helpful. In fact Google’s algorithm is actually biased against rare diseases. Because pages are weighted based on the number of times they are linked to by other heavily weighted pages, the diseases most likely to show up on search results pages are the diseases that are most common.
Wouldn’t it be great if there was a search engine just for rare diseases? There is. It’s called FindZebra.com The project grew out of a collaboration with the University Hospital in Copenhagen, Denmark, and was designed as an alternative to PubMed and Google searches which are too broad to be helpful in the specialized world of rare diseases. We did a blog post on the search engine when it launched last March. As part of our series on diagnosis, we called Ole Winther, PhD, an associate professor of DTU Informatics at the Technical University of Denmark and one of the founders of FindZebra, to get an update and see what new initiatives they’re planning. Read More
Posted by Pamela Todd | 2:29 pm on Friday November 15, 2013 |
Caregivers must act as researchers, care coordinators, and advocates
If you want to know the heights of love, compassion, determination, and self-sacrifice that people can rise to, just sit down and talk to someone who is caring for a rare disease patient for 30 minutes or so. It will be enough to combat any cynicism you feel about the state of the world and humanity.
In the 8 years I’ve spent working with rare disorder communities, I’ve met many inspiring caregivers. The most recent example is Lisa Moreno-Dickinson. We interviewed her about Stop CAID Now, the organization she founded to find a cure for childhood autoinflammatory diseases. There are also many stories to be found in our book, Uncommon Challenges, Shared Journeys: Stories of Love, Hope, and Community by Rare Disease Caregivers, a collection of stories written by empowered rare disease caregivers who are shaping the future of healthcare for rare diseases and orphan drugs. Read More
Posted by Pamela Todd | 1:56 pm on Tuesday November 12, 2013 |
I wanted to hold him out and say, ‘Somebody, please, just help him.’
Lisa Moreno-Dickinson may not have made Forbes’ list of the world’s most powerful people this year. But that is not going to stop her from changing the world for children who suffer unbearable pain from childhood autoinflammatory diseases (CAID). Nothing can stop her—at least not for long.
Moreno-Dickinson formed Stop CAID Now several years ago to educate, build awareness, and fund research. Since then she has: forged a partnership with Cleveland Clinic to create the first evaluation center for CAID; helped get a CME created; founded StopCAIDnowInternational; started an anti-bullying campaign; wrote a children’s book called The Hero in Me; sent “hero awards” all over the world to children with CAID; and created a perfume fragrance, La Fin Du CAID, to support research. Read More
Posted by Justin McLeod | 9:24 am on Friday November 01, 2013 |
When there is no therapy for a disease and very little is even known about the disease itself, it is often the parents or caregivers who lead the charge
When a rare disease project gets mainstream attention, it’s a big deal. Exposure to a wider audience can make a huge difference for patients, caregivers, and all other members of a given disease community. So we were excited to see that Life According to Sam, the documentary that made such an impression at the Sundance Film Festival, is now showing on HBO
Life According to Sam is a documentary film that tells the story of Sam Berns, a 16-year-old afflicted by progeria, an extremely rare condition that causes young people to prematurely experience the symptoms of old age. Read More
Posted by Pamela Todd | 4:53 pm on Tuesday October 08, 2013 |
They know that they have lost their son. What they don’t know is why.
One of the most moving moments (and there were many of them) at Global Genes’ recent patient advocacy summit was when Heather Long, founder of the Texas-based nonprofit U. R. Our Hope, rose to tell the audience why she felt that diagnosis was such a critical issue for the rare disease community. Long and her husband, Cody, have three children; two daughters and a son who passed away in 2006 at the age of 5. They know that they have lost their son. What they don’t know is why. Doctors told the Longs that Cal probably had a very rare metabolic disease, but they were unable to diagnose it. Read More
Posted by Pamela Todd | 4:46 pm on Monday September 16, 2013 |
what are the top 5 things people can do to prepare?
During a recent phone call arranged by the National Organization for Rare Disorders (NORD) to help members prepare for healthcare reform, Secretary of Health and Human Services Kathleen Sebelius told a story that any rare disease patient or caregiver can relate to.
It was about a nurse,whose name is Cathy Stoddart. Her son was born with heart defects that required multiple extensive surgeries. Stoddart and her husband both worked and had insurance coverage, but each surgery resulted in thousands of dollars of out-of-pocket costs. To save their son’s life, they used credit cards to pay the bills, which ultimately drove them into bankruptcy. Today their son is alive and well and going to nursing school, but the Stoddarts’ credit history was damaged in a way that people in rare disease communities will be able to avoid in the future, thanks to healthcare reform. Read More
Posted by Wendy White | 2:39 pm on Friday September 13, 2013 |
Be relevant, be credible, be useful, and create something that people find interesting and compelling enough to share”.
Movement marketing is a great way to empower patients by rallying them around a cause and motivating them to take action. It’s on the rise, partially because the impact of social media makes movements more powerful and broader in reach. But movement marketing is also gaining traction because it benefits everyone involved.
According to an Interpublic Group, Emerging Media Lab Survey from 2010, 92% of consumers said they have a more positive image of a product/company when it supports a cause and 87% of consumers (when price and quality are equal) are more likely to choose a brand associated with a cause.
If you want to learn how to be successful in movement marketing, take a look at rare disease communities. As usual, they are leading the way. Read More
Posted by Pamela Todd | 4:41 pm on Friday August 02, 2013 |
Genetic disorders sometimes occur in geographic clusters
U.S. Senator Tom Udall of New Mexico has introduced a bill that could be a bellwether for rare disease communities.
The bill, proposed by New Mexico’s congressional delegation is designed to support research on cerebral cavernous malformation (CCM), a genetic disease caused by abnormal blood vessels that form clusters (angiomas) in the brain, resulting in seizure, stroke and death.
Why is this disease so important to lawmakers in New Mexico? Read More