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 Wendy White | 10:36 am on Tuesday November 26, 2013 |
It’s time for pharma companies to reach out to caregivers
When my daughter Casey was born with nail-patella syndrome (NPS), the orthopedic surgeon said she would never climb stairs.
What is a parent to do when confronted with information like this? How do you cope when you’re told that your child has a debilitating condition that will affect them for their whole life? This was a watershed in my life; I was already the mother of 2 boys, but Casey’s diagnosis marked the beginning of my career as a caregiver. 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 Neil Rubenstein | 2:20 pm on Wednesday November 20, 2013 |
I knew I would have to become more educated if I was going to be a better, stronger caregiver and advocate
When you hear the word caregiver, do you think of a man or woman? Interestingly, the definition of caregiver doesn’t reference gender in any way even though the primary caregiver is more often than not a woman.
Caregiver: A family member or paid helper who regularly looks after a child or a sick, elderly, or disabled person.
I learned at a relatively young age, however, that caregiving and advocacy were important for men as well as women. Soon after my wife and I started dating (while in our 20s), I learned that she had a genetic disorder called neurofibromatosis (NF). She had the physical manifestations common with NF1 such as café au lait spots or flat, light brown spots on her body (6 or more is a strong indication of NF1); plus, she had a couple of tumors—visible, pea-size ones as well as some non-visible ones in various parts of her body. She was also on the shorter side which could have just been hereditary but is common with NF as well.
Within a couple weeks of dating, I made my first trip to the hospital with her to discover she suffered from severe, debilitating migraines. These also could be hereditary but we strongly believe that her NF causes hers to be much worse than anybody else in her family. The nurses and doctors ran through a battery of questions which culminated into tests to rule out meningitis. Over time, this more often than not led to the suggestion of doing a spinal tap. I was in over my head at this point, but I knew with some certainty that she didn’t have meningitis. This first hospital visit left me with a lot of questions. 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 Doug Yamate | 11:56 am on Wednesday November 06, 2013 |
It’s truly an inspiration to see a young man turn a tragic moment into a youth movement toward adherence
You’ve heard the saying, “Laughter is the best medicine.” And in fact, laughter does have its emotional and physical health benefits. But what about laughter, or comedy, as a means to engage and educate those affected by a rare, genetic disorder? This was the vision of Patrick James Lynch, a severe hemophiliac and actor/writer/producer—and he made it happen.
Lynch and his brother were both born with severe hemophilia, a bleeding disorder that primarily affects males. While away at college, Lynch’s brother suffered a fatal bleed. A lax approach to his treatment regimen was discovered to be a contributing factor. From this devastating tragedy, Lynch found a calling—to use his personal experiences, acting talents, and entertainment industry connections to reach and educate young hemophiliacs on the importance of being adherent and proactive in their care. Read More
Posted by Stephanie McDonald | 3:40 pm on Monday November 04, 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. 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