Living with "Rare"

 Living with "Rare"

A blog devoted to navigating and analyzing life with 
Rare and Complex Disorders.



Anti-disability Awareness? When research into disabilities might actually hurt disabled people.

by RNE submissions on 09/13/16

It can be hard to focus the medical system's attention on quality of life for patients (over black and white medical outcomes), but sometimes in the zeal to explore patient perceptions of poor medical quality of life, researchers inadvertently stigmatize and devalue entire groups of disabled Americans.

A recent survey by Rubin, et. al, published in JAMA Internal Medicine showed that many able-bodied adults surveyed about medical disabilities showed participants view several medical states, such as incontinence, as "worse than death".  While on the outset this seems like helpful insight into patient views on quality of life, the ways in which researchers frame questions can actually be harmful to chronically ill and disabled patients. For example, just because a survey shows currently able-bodied adults *fear* certain disabilities would be "worse than death", does not mean they would *actually* perceive their lives as torturous, should they become disabled. There is a difference between what people think it would be like to live with a disability, versus what it is actually like to live with one. This study tells America that many adults feel horror at the idea of acquiring a disability such as "becoming incontinent," without actually exploring whether or not it IS horrible to be incontinent.

Why is this a problem? It is a problem in that focusing on the perception of disability  and chronic illness can harm the care of actual disabled and chronically ill people. In reality, many disabled and ill Americans live fulfilling and productive lives, and it is a form of anti-awareness to highlight how awful/scary/devastating "abled" people view the idea of becoming "disabled" or "ill." Ignoring the many ways in which disabled and chronically ill people love and enjoy their lives creates a negative perception of them as a group, and of what they can offer to society.

Following the example of incontinence: all over this country, children and adults live their lives in the midst of catheters, ostomies, and diapers, without despair. "Worse than death" is definitely not how they would describe their daily experiences with incontinence. Unfortunately, the reality of how actual incontinence is handled is much less recognized and understood than how scary and undignified the idea of incontinence seems.

Disability and illness most often are not in and of themselves worse than death. Accommodations and compassionate care can bridge the gap for many people with disabilities to function in normal living patterns, with normal aspirations and contributions to our world. This reality needs more time and space in research and medical teaching. If anything, the current study highlights how very far we still have to go in disability advocacy.

JAMA Study: http://archinte.jamanetwork.com/article.aspx?articleid=2540535

Is the Battle for Medical Care "Real", or Simply Perceived as Real?

by RNE submissions on 08/11/16

In his article "Why Doctors Should Stop Speaking the Language of War" (Forbes, 7/21/2016) Robert Pearl, MD writes that doctors should stop using war-based language to describe the process of providing medical care as this creates an oppositional atmosphere, and the perceived hostility between parties such as physicians and patients prevents cooperation and improvement in the medical system. "Meaningful, positive change can’t happen until people work together.." he writes, "...even when they represent different perspectives".

Pearl was distressed after hearing such phrases as “in the trenches”, and “on the front line” from doctors describing their professional experiences, as these militarized images paint physicians as victims of an unfair and damaging system, rather than as agents of change. He writes: “If our nation is going to address the healthcare needs of 300 million Americans—and at the same time improve the professional lives of doctors—cooperation of the highest order will be essential. Rather than describe ourselves as combatants, patients, physicians and administrators alike will need to forge partnerships for the greater good of all.”

It is true that language creates our perceptions and directs our thoughts. "War" language does create a mentality of "Us vs Them", and Pearl is correct that such perceptions are not conducive to increasing cooperation between different players in the American medical system. Such cooperation is definitely needed, and our nation can benefit from even small steps in that direction.

However, I believe where Pearl errs is in his assumption that the “war” physicians describe is perceived, and not actual. The war in healthcare isn't all in the language. Participants in our medical system regularly report actual and prolonged fighting with insurance companies, with government agencies and other regulators, with pharmaceutical companies and research groups, and (often) between physicians and patients, in the process of creating care.

From a patient advocate’s perspective, these battles are significant, and very real. The levels of stress patients and families report after years of medical fighting is akin to wartime PTSD precisely because it truly is a serious battle that takes a heavy toll on the unfortunate combatants.

I think Pearl is correct that medical providers need to demilitarize our medical vocabulary, but more importantly, we need to demilitarize our medical system. As long as the process of creating care takes place in trenchant and stressful battles between patients and providers, providers and regulators, regulators and industry, and others, medical care will continue to feel warlike and polarized, because it truly is warlike and polarized.

What do you think?


Link to the original story:  http://www.forbes.com/sites/robertpearl/2016/07/21/why-doctors-should-stop-speaking-the-language-of-war/3/#6a9f91157d20

Fatal Stress: Side-effects of a Broken System

by RNE submissions on 08/08/16

The family of a Pennsylvanian two-year old who received a heart transplant at 6 days old, was found dead in a murder suicide over the weekend.


The girl's family made national news recounting an ongoing struggle against specialty pharmacies and medical insurance to get their daughter's anti-rejection medications covered. 

The family was also well-known for a blog, in which the girl's mother described on-going PTSD her family lived with in the wake of her daughter's heart transplant, and the endless battle to keep their child alive.


Although we don't currently know the exact reasons this family was murdered, what the patient and advocacy community does know, is that living life with a family member who has severe health needs creates incredible stress and tension in both family life, and also in family relationships. Whether it is caring for a family member with severe mental health problems, out-of-control developmental/behavioral issues, controversial medical diagnoses, chronic complications of a more common disorder, or one of the six-to-seven-thousand rare diseases afflicting Americans, caring for family members with severe illness creates serious, and in some cases life-threatening, levels of caregiver stress.


When families and caregivers must fight every hour, every day, all month, all year, to get medical supplies, medications, doctor appointments, proper medical care, health insurance, state programs, IEPs and specialized education, nursing care, and more.... it can destroy them. 


In other words: People break

Do we remember that?


When a child's life and a family's life are constantly on the verge of ending, people break. 


When caregivers are torn between fighting with medical providers to achieve enough care, and worrying these same providers might decide the caregiver wants "too much" care (leading to possible accusations of Medical Abuse and DCF calls), people break.


When a special-needs child cannot get an education in the public schools, yet parents don't have the training or resources to educate them at home, people break. 


When an ill or special-needs child is violent and out of control, and the only choices are live with it, or exile the child to an institution, people break. 


When families are forced to provide 24/7 ICU-level care for ill children at home, with no sleep and no help, people break. 


When a family's medical insurance company will not pay for life-sustaining care, and caregivers fight and fight and fight, only to lose again and again, people break.


Marriages break, finances break, families break, and sanity breaks.


Our medical system breaks people. 


When are we as a country going to do something about this?



Click here to read the original story: http://www.nbcphiladelphia.com/news/local/Dead-Murder-Suicide-Berks-County-389398512.html?_osource=nbcnews_fb

A lifelong Connecticut resident, Joanna Mechlinski is a former newspaper reporter who now works in education. She was diagnosed with lupus, fibromyalgia and polymyositis in her early twenties. In addition to helping spread rare and chronic illness awareness, Joanna is also passionate about animal advocacy, reading, writing, and road trips.

 Mary-Frances Garber is a licensed genetic counselor, providing supportive counseling for families in search of a diagnosis, a listening ear for those receiving a new diagnosis and decision-making counseling for individuals or couples facing choices regarding having another child . She also is available for bereavement counseling. Patients are seen in a private office setting in Needham, Massachusetts.
Listening, Reflecting, HealingSupportive Genetic Counseling 
Find more info here.
Meet our blog writers!
Jenna Anne
  I write to you as a wife and mother of 4 children. Three daughters and a medically complex son. I live in New England and have a love of fiber arts, music, and most importantly advocating for my children. My background is in Early Childhood Education and Music Education, I have no medical background aside from what I have had to learn on this medical journey. My writing is not statistic based, it’s not guidelines or resources but rather I bring a perspective from the human experience. Often in this world of medical complexity we focus specifically on the patient and the diagnosis and treatments, my writings offer the community a different perspective on how the day to day events are affected by medical interventions. The impact it has on siblings and family. The perseverance it takes to keep a wholesome family continuously adapting and thriving amidst all the challenges of medical complexity. My writings are often raw and unapologetic and speak to the human experience behind the policy, coding and diagnostics of modern medicine.  

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