Living with "Rare"

 Living with "Rare"

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

Rare Disease Day

by RNE submissions on 01/31/18

By Joanna Mechlinski

February marks a special anniversary for the rare disease community – it’s a decade since the first Rare Disease Day was celebrated. Held annually on the last day of February, the event kickoff was especially significant in 2008, as that was a leap year – a relatively rare occurrence.

This year’s observance will take place on February 28, but it won’t be any less monumental. Special events will be held in communities all over the world, including guest speakers, benefits and virtual events. The National Organization for Rare Disorders (NORD) launched the 7,000 Mile Rare Movement on February 1, challenging Americans to collectively walk, run or bike 7,000 miles throughout the month – in honor of the 7,000 rare diseases that some 30 million Americans and 300 million people worldwide are living with. All activities focus upon this year’s theme – a continuation from 2017 – of research. To date, there are some 300 million people worldwide living with one or more of someover 6,000 rare diseases. There is often little or no medication or treatments for their conditions, so patients and their families must often advocate for their own needs. This not only includes trying to convince researchers to embark on new studies, but also providing information for their specific disease organizations’ patient databases.

During the weeks leading up, those in the rare disease community are encouraged to help promote awareness – both for the general public and for lawmakers . Another major component of the campaign is to help patients and caregivers remember they are not alone. The internet plays a large part, with Twitter hashtags such as #ShowYourRare#MyRare, #RareDiseases and #RareDiseaseDay helping join the community as members share their personal experiences. #ShowYourRare is the inspiration behind this year’s poster and logo, as patients are encouraged to paint their faces with the rare disease logo and post selfies on their social media. 

To see what Rare New England is doing to commemorate Rare Disease Day, go to

For more information about Rare Disease Day in general or to find local events, go to or to “rarediseaseday” on both Twitter and Facebook.

Caring for the Caregiver

by RNE submissions on 01/07/18

By Joanna Mechlinski

January 2018

When a loved one lives with a rare disease, it's easy to get caught up in his or her needs. After all, a person living with a serious disease or disorder may require countless hours for doctor's or hospital visits, medication or treatments, and assistance with day-to-day tasks from household chores to personal hygiene. The caregiver may also become involved with advocacy for the patient's needs or recognition of the disease itself, be it among policymakers or insurance companies. Your family member or friend's needs may become all-encompassing, both physically and mentally. That's why, with the start of a new year, it's important for caregivers to resolve to focus on themselves, too.

According to the National Alliance for Caregiving, some 30 million Americans live with a rare disease or condition. Many receive unpaid care from family or friends – often as many as 20 hours per week, in addition to their outside jobs. These caregivers are tasked with not only the person's physical needs but also emotional, as there may be difficulty with finances, in obtaining medication or adequate medical care. For some, their disease's symptoms may be unpredictable and the longterm outcome may be uncertain.

The Caregiver Action Network stresses the importance of accepting help from others. In giving yourself time away, you will maintain your physical and emotional wellbeing, so that you will ultimately be better able to care for your loved one. Don't be afraid to reach out to others, even for a few hours or a specific task. Seeking respite is not a sign of weakness! In addition, CAN emphasizes networking with other caregivers. Not only is it a chance to vent and share ideas with others who have similar challenges, it's important to remember that there are many others just like you.

To connect with others and find more tips on caregiving, you can Google disease-specific organizations or check out sites like National Organization for Rare Disorders (NORD) at, Caregiver Action Network (CAN) at or

Orphan Drug Tax Credit

by RNE submissions on 12/04/17

By Joanna Mechlinski

You’re a person living with a rare disease or disorder, chronic and potentially life-threatening. You desperately need medication to maintain your quality of life. But perhaps your disease is so rare that there is little incentive for a pharmaceutical company – which is, after all, for-profit – to invest the time and money into developing a drug.

That’s where the Orphan Drug Tax Credit comes in. Since 1983, the U.S. has offered pharmaceutical companies reimbursement on 50% of clinical testing costs, giving pharmaceutical companies an incentive to experiment with new medications for rare diseases, which are defined in the U.S. as any that affect fewer than 200,000 people. (In Europe, it is one that affects fewer than 1 in 2000 people.) In the years since the credit’s inception, the Food & Drug Administration (FDA) has approved nearly 600 orphan drugs. Comparatively, between 1973 and 1983, only 10 drugs were approved.

There are an estimated 7,000 rare diseases – often called “orphans” due to pharmaceutical companies’ reluctance to adopt them - affecting 25-30 million Americans.

In early November, House Republicans proposed eliminating this credit. After considerable negotiation, it was decided to keep the credit but lower it to 27.5%. What’s more, a past provision that had been scrapped – giving the credit to a company that repurposed an existing drug as an orphan – was restored.

According to an October report by health research company QuintilesIMS and the National Organization for Rare Disorders (NORD), orphan drugs comprised 7.9 percent of the total U.S. drug sales in 2016. While that percentage doesn’t seem like a lot, it is when one considers that Quintiles estimates Americans will spend $580-610 billion on prescription medications by 2021 (the United States constitutes some 40 percent of the global pharmaceutical industry). Patients’ spending increased 5.8 percent between 2015 and 2016 alone.

At this moment, it’s still unclear what the future will hold for the Orphan Drug Tax Credit. Thus, it’s important to join the fight while we still can. Contact Congress to share your story, or contact a patient organization for your disease or disorder – over 200 have expressed their support for maintaining the credit. Each of us may just be one person, but together, we can influence our future.

November 9th is Genetic Counselor Awareness Day.

by RNE submissions on 11/09/17

Mary-Frances Garber, MS, CGC
Licensed Genetic Counselor

Genetic Counselors are partners in your genetic health care.  For those of you living with rare conditions, or curious about your genetic family history, you can reach out to find a genetic counselor at

Genetic Counselors are trained in the field of genetic medicine, while at the same time focusing on your emotional wellbeing.  Genetic counselors are equipped to help you understand the genetics of the condition in your family, while traveling with you on the emotional journey.

Considerations in Genetic Testing

by RNE submissions on 11/04/17

By Joanna Mechlinski

Genetic testing is a type of medical test that can determine the presence, absence or changes in genes, chromosomes and proteins. To date, there are over 1,000 different genetic tests in use – including prenatal and newborn testing.

At first glance, being able to find out if a baby will be born with a certain illness or disability seems like a wonderful thing. No one will be blindsided; families will be prepared for all eventualities to the best of their ability. If available, the family may start treatment immediately in order to give the child the best prognosis.

Genetic testing may also indicate if a person is a carrier for a serious disease or condition – that is, if the person may not have any health issues themselves, but possibly risk having a child that will.

However, problems also lies within the knowing. Genetic testing in its current incarnation isn’t a precise thing. We cannot always determine, for example, the severity of the person’s illness , whether it will progress over the person’s lifetime – or if the person will even show any symptoms at all. It also gives potential parents the option to use in-vitro fertilization – cells can be taken from embryos grown in a petri dish and tested.

But how many parents might take the knowledge and decide not to proceed with the birth? Some might simply be frightened or overwhelmed by what they don’t know or understand; others may not want a child that isn’t “perfect.”

That, of course, leads to huge moral quandaries. Who among us doesn’t have some sort of challenge in life, whether it’s physical, emotional or otherwise? What’s more, who among us has the right to judge which challenges are “acceptable” and which are not? Who gets to decide if someone isn’t “worthy” of life? And in the case of the embryos, what happens to embryos which may be discarded? This leads to the often gray and often controversial issue of just when life begins. All of these scenarios lead to the proverbial “playing God”.

Like many things in life, genetic testing is full of pros and cons. It’s ultimately up to the individual – or couple – to decide whether this avenue is the right one for them.

Never Underestimate the Power of Your Voice!!

by RNE submissions on 10/05/17

By Joanna Mechlinski

Unless you've been living under the proverbial rock, you'll have noticed there's a lot in the news about healthcare lately. Politicians argue daily about this or that plan; the average citizens simply worry about their needs being met. What happens if you have a serious condition and can't get the doctors or medications you need to survive? Living with chronic illness is scary enough without adding monetary fears to the mix.

Unfortunately, a lot of healthcare cuts are made without looking at real people. Someone at the top is tasked with saving money; he or she then looks at the big picture. Chances are, they have never had to struggle with serious illness, either personally or with a loved one. Thus it's much easier to look at things theoretically – at how they “should” be. Yet as we all know, things rarely work out the way we think they might. Life is simply full of too many obstacles and variables. Medications that “should” work for a particular illness sometimes do not; other times, unexpected secondary complications may develop. An insurance company guideline that sounds good on paper may not make as much sense in practice.

For this reason, it's crucial that we all share our stories. We need to put faces to rare diseases. We need to show the world just what a real person has to go through – not just the symptoms of the disease itself, but also with bureaucracy in the fight for basic existence. It’s just not right.

If calling or writing letters to politicians sounds too daunting, there’s still a lot you can do. Social media is a wonderful tool for spreading awareness – you can join existing campaigns, or start your own. Even posting pictures or facts with the appropriate hashtags can be a huge help. We’ve seen proof via viral campaigns like the ice bucket challenge, raising awareness for ALS, that social media can truly have an impact.

What’s the point? you may wonder. What do the Powers That Be really care about one little person…if my voice even makes it to them?

There’s a great quote by the Japanese writer Ryunosuke Satoro: “Individually we are one drop. Together we are an ocean.” There is really no other way to put it. Each of us may feel insignificant in the fight against something so enormous as healthcare reform; but put all our voices together and we’re a force to be reckoned with.

Stolen Handicapped Placards and Projects to End the Crime.

by RNE submissions on 09/01/17

By Joanna Mechlinski

On a recent trip to the supermarket, I happened to park my car outside a vehicle with wide open windows. As I walked past it, I noticed a handicapped hangtag lying on the seat in full view. Were I so inclined, I could have put my arm right into the car and taken the hangtag with virtually no effort.
Many people who utilize handicapped parking do so grudgingly. They want to be just like everyone else, in navigating the outside world as in all things. It’s only when they find themselves at a point where they can no longer walk easily across a parking lot or busy downtown area that they finally admit they need a little help. So it’s a bit difficult for most to imagine that there are able-bodied people out there who
would take their hangtag in a heartbeat.

The most obvious perk, of course, is parking closer to your destination. But another benefit is that with a
handicapped placard, drivers are exempt from paying the parking meter. As many individuals with chronic illness or disability are unable to work and thus on limited income, this makes sense. In addition, some meters are inaccessible to people who use wheelchairs.

Washington DC began a new approach earlier this year, tackling handicapped parking abuse by having all vehicles pay. This, city officials said, would eliminate much of the motive for able-bodied individuals “borrowing” the hangtags of family or friends, or even outright stealing them. However, some argue
that this also may restrict access to downtown for those with legitimate limitations, as they are now being forced to pay for parking from limited disability income. What’s more, that may be a violation of the Americans with Disabilities Act.

In recent years, many U.S. cities and states have attempted to curb handicapped parking abuse. New Mexico, Massachusetts and South Carolina, among other states, require hangtags to display the owner’s photo. Other areas include barcodes on their tags, making it easier to track the original owner.              In June 2014, Baltimore launched ProjectSPACE – similar to Washington DC’s plan - to tackle the problem in their area. City leaders told CBS Baltimore than an estimated 2,000 handicapped placards were stolen annually in their area. After the implementation of Phase I, the number dropped to only a
few per month. This past spring, the city implemented Phase IV, reaching out to yet another part of the city.

So perhaps you’ve noticed someone parking illegally in a handicapped spot; perhaps you even know someone who “borrows” another person’s tag on a regular basis. What can you do? You can report it to the police or DMV, of course. You can also notify, which seeks to publicize and shame offenders. Founded in 2007, the site also notes problem areas, sharing the information with city
officials for potential action. It also offers information to individuals about their rights under ADA.

Adjusting to a Rare Disease Diagnosis

by RNE submissions on 08/16/17

Written by Mary-Frances Garber, MS, CGC

Perhaps you are just learning that you or your child has a rare disease; you may feel shocked, sad, scared, angry, overwhelmed or all of the above.  It is not uncommon to experience a range of emotions after receiving a genetic diagnosis. Sometimes, even guilt is an emotion that is experienced, as a rare disease can be inherited.  It is important to remember that our genes and the mutations that we carry are not determined by anything we do or fail to do.  These mutations for the most part are random and spontaneous.

Having been a genetic counselor for over two decades, I understand what receiving a genetic diagnosis can be like for a family.  I never want my patients to feel alone or not supported.  As a genetic counselor, I now focus on providing a listening ear through supportive genetic counseling.

Living with an unpredictable genetic condition takes patience, perseverance, and courage.  Parents sometimes speak about the “new normal”, referring to their life after the diagnosis.  It is not uncommon to wish you could go back, to the old normal, before the diagnosis.  By becoming educated about the condition, talking with others in a similar situation and with proper emotional support you can and will adjust.  Adjustment takes time, allow yourself this time.

Sometimes when you feel you have adjusted and life is going along just fine, a new health issue presents itself and the cycle begins again.  Take time, give yourself time to talk about your worries, your exhaustion, address your need for support.  Many of you are becoming experts regarding the rare disease diagnosis in your family, some of you are just learning.  Others of you have become patient advocates, fundraisers and cheerleaders, but, remember to take time out to express your feelings.  You deserve it.

Lastly, fear of the future is understandable.  Try to stay in the present, remembering that your medical team will be there for you when challenges arise. 

Below are a few helpful hints for you to consider:

1.      Use RARE New England as a community and supportive environment

2.      Journal when you need to get your feelings out and there is no one available

3.      Talk with others who have a similar condition about their life experience

4.      Find a professional counselor if you need extra support


Mary-Frances Garber is a board certified, licensed genetic counselor who earned her B.S. in Molecular Genetics from the University of Rochester and her M.S. in Human Genetics from Sarah Lawrence College. Having worked for 11 years in a high-risk obstetrical setting in the Antenatal Diagnostic Center at Brigham and Women's Hospital, she gained extensive counseling experience. She has worked with many families having various genetic, chromosomal or developmental conditions. She is now in private practice focusing on patients with concerns surrounding compromised pregnancy outcomes, a recent diagnosis of a birth defect or genetic condition, and those in the process of obtaining a diagnosis for their child.

Mary-Frances Garber, MS, CGC
   Licensed Genetic Counselor


    Listening, Reflecting, Healing
     Supportive Genetic Counseling
    Needham, Massachusetts 


by RNE submissions on 08/02/17

Written by,

Joanna Mechlinski

Despite all the bad things in the world that we hear about each day, one thing still seems pretty clear. Most individual people truly do want to say and do the right things. However, even with the best of intentions, it’s far too easy to hurt someone’s feelings, often without realizing it.

Ableism is discrimination or prejudice toward people with physical, mental or developmental disabilities. It can take more obvious forms, such as an employer not wanting to hire a qualified person simply because of a chronic illness or disability. But in many cases, ableism is very subtle, especially in speech. Many words are such an ingrained part of our language that we never even think about what they truly imply. Chances are, the person making a comment has no idea that what they’re saying is hurtful.

Certainly, by 2017, most people understand why they shouldn’t use the word “retarded” or “cripple”. But how many demonstrate the same caution with “crazy” or “insane”? Those two words are often tossed around to describe someone acting in a way the speaker finds unusual. Yet to a listener with mental illness, they might be extremely demeaning. The same holds true for words such as “spaz” (belittling a person with spastic limbs) or “lame” (making light of a person with mobility issues).

Other terms refer to stereotypes or reflect attitudes that may not necessarily be true. For example, in the past it was often said that a person was “wheelchair bound.” But as individuals who use wheelchairs tend to view them as a means of independence, not confinement, it is considered better to say “uses a wheelchair.”

There are some who are reading this and inwardly sighing, wondering what the big deal is. It’s only words, right? Why are people being so sensitive? But as we’ve all experienced at some point in our lives, words do carry enormous power. A physical assault will fade within days or weeks; but those on the receiving end of a callous remark may feel its pain years later. Why risk hurting another person unnecessarily? Language is  so rich and constantly evolving! There are a myriad of words to be used in any given situation. If there’s any question at all, just substitute another word.

Most importantly, remember that we are all individuals. Where one person takes offense or express a specific preference, another may not mind either way.  If you have any doubts about what is appropriate or acceptable, just ask! Most people will appreciate the inquiry, as it highlights a genuine concern about the individual and a desire to make things right.

A Review of IEPs and 504 Plans

by RNE submissions on 07/03/17

by Joanna Mechlinski

While having to live with a rare disease is difficult at any age, there are special challenges when you’re a child. Most kids will moan about various aspects of school, but rarely is there any real question about their ability to get through them. Unfortunately, that's not always the case for children who are living with a rare disease, which may impact them physically and/or mentally.

Thankfully, there are IEPs and 504 plans to help students navigate the educational system as smoothly as possible.

An IEP – or Individualized Educational Plan – is a document developed for each public school child determined to have a disability. The IEP details the student’s individual learning style and how the student best demonstrates what has been learned. The overall goal is for the student to remain involved in regular academics and school activities as much as possible, with special assistance only provided when absolutely necessary. A team (which includes both school staff and parents) develops goals for the student, revisiting them annually to assess whether they need to be adjusted.

Some common accommodations can include extended time on tests and assignments, preferential seating in the classroom, adapted textbooks or materials, assistive technology (such as a voice-output for communication or a Braille reader), a one-on-one aide, specialized transportation or modified meals.

A 504 plan – or Section 504 of the Rehabilitation Act of 1973 -  is for students with physical or emotional disabilities which impact their ability to conduct major life tasks in areas such as vision, hearing or walking. Goals are not usually set.

Although both an IEP and 504 plan may seem similar at first glance, the latter protects many students that the former does not identify as having a disability, as its definition is broader. It also extends to life outside the school day, e.g. extracurricular activities.

Of course, resources may vary throughout the country. Each state has a Parent Training and Information Center which can help parents learn about specific services and policies in their area; the Center for Parent Information and Resources (CPIR) oversees them all. To find your state’s center, go to

Feeling confused and overwhelmed by all the jargon and details? You might want to check out the New England Genetics Collaborative (NEGC)'s Genetics Education Materials for School Success (GEMSS). The goal of this group of specialists is to promote awareness and education about genetic conditions. Their site includes a great breakdown comparison of IEPs and 504 plans, as well as individualized family service plans (IFSPs), which are used for children under age three., here:

Another wonderful resource for parents is Global Genes' “Advocating for Child with a Rare Disease at Their School” toolkit. This nonprofit patient advocacy organization produces a wide variety of resources detailing the many aspects of living with a rare disease, from childhood to adulthood. To get started, go here:

If you believe adaptations or modifications might help your child be more successful in school, please don't hesitate in speaking to school staff or your pediatrician! All of these professionals are on the same team – making sure your child makes the most of his or her school years.

Chronic Illness and Energy Limits: Helping others understand

by RNE submissions on 06/02/17

Chronic Illness and Energy Limits: Helping others understand

By Joanna Mechlinski

                                               June 1, 2017

The average person doesn’t usually think about the amount of energy it takes to do basic things. Essential tasks such as taking a shower, preparing a meal or running an errand are so ingrained in our everyday lives that we simply do them, like breathing.

Yet when a person lives with a chronic illness, no longer can anything we taken for granted. Due to ever-present pain and exhaustion, the amount of energy you have each day is limited. Some days, thanks to flare ups – or overextending yourself the day before - that precious amount can be curbed even further. Suddenly all the things you once did easily require a great deal of planning and thought. What if you simply run out of energy before you’ve completed everything that needs doing? If you can’t delegate, then you need to prioritize.

How on earth do you make a healthy person understand this unusual way of life? Sure, you can try to explain how you feel and the kinds of choices you are forced to make each day. But while your audience may nod, saying they understand – and maybe even truly believe they understand – the truth is that no one does, not unless they live that way themselves. But what kind of metaphor can convey your reality?

The “spoon theory” was born in 2003, when Christine Miserandino wrote an essay for her website  She recalled trying to explain life with lupus to a friend. As the two were sitting in a diner, Miserandino was inspired to use spoons in an impromptu metaphor. She held out twelve spoons, explaining to her friend that each one represented a unit of energy. Each daily task required at least one spoon, if not two or more. Once the daily allotment of silverware was used, that was it. There is no magical “store” to pick up additional spoons. And if you attempt to “borrow” spoons from the next day, that means you will be that many short come tomorrow for the next round of tasks.

By putting the situation in a simple yet more tangible example, Miserandino was able to make her friend better understand the challenges of those living with chronic illness. Suddenly the array of spoons in her hands – more than any one person would typically need for the usual purpose – seemed stark and limited. Now it was more clear why a person living with chronic illness might have to take a nap in the middle of the day or turn down a social outing. Yes, even fun things like meeting a friend for lunch or going to see a movie use up spoons! There's the stress – both physical and mental – of actually traveling to the location. Then, depending upon the particular person, there can be the stress of navigating through crowds, sitting amidst noise, climbing stairs, having to sit for too long and a myriad of other things that the average healthy person wouldn't even think about. Unfortunately, a “spoonie” doesn't have that luxury.

But ironically enough, it isn't just the healthy who can benefit from the spoon theory. We who are living with finite energy can be aided by this very simple and tangible reminder not to try overextending ourselves, that our resources are more limited than we might want or need them to be. Even those of us who have been living in this mindset for years – or perhaps all our lives – can forget when things need getting done.

With all this in mind, you'll never look at a spoon in the same way again, will you?

Label Me as a Person, Foremost and Always

by RNE submissions on 05/02/17

By Joanna Mechlinski

Those of us with a chronic illness or disabilities are essentially just like everyone else.

That should go without saying in 2017. But sadly, there are many people who still do need educating.

This is the reason that many have pushed for changes in language that describes chronic illness or disability. Many of the differences may appear subtle but are truly significant. When speaking about a person with mobility impairment, for example, many are accustomed to describing him or her as a “handicapped person.” Today, however, the emphasis is on the person first…a disability is what someone has, not is. Furthermore, it's simply one of the many things that make up his or her life. People living with a chronic illness or disability have hopes and dreams, pet peeves, a particular sense of humor, talents and things they aren't so good at. Guess what? That's basically the definition of every human being who's ever lived.

It’s suggested that a better way of speaking is “person who uses a wheelchair” You should also refrain from outdated terminology such as “wheelchair-bound,” as wheelchair users tend to view their chairs as a vehicle for independence, not confinement.

Don’t paint someone with a chronic illness or a disability as a victim. People use canes or have lupus; they aren’t “stricken” or “afflicted” by them.

On the other hand, don’t lavish praise on someone simply because he or she completed a normal everyday task. Individuals with chronic illness or disabilities aren’t “inspirational” or “heroic,” just doing their best to live ordinary lives like everyone else. To describe that as anything else often comes across as patronizing or condescending.

This is the time of year for high school proms; and with that, the inevitable media coverage about someone asking a student with a chronic illness or disability to be his or her date. No one would even dream of writing an article about a prom-goer raised by a single mother or attending the school because of a financial aid scholarship. So why is it suddenly newsworthy when someone has Down's syndrome or uses a wheelchair?

No doubt some of you reading this are rolling your eyes and mentally sighing by now. “What's the difference?” you're wondering. “It's only words.” Yes, that's true to an extent. But as you might also realize, “only” words carry a huge power. Depending on how they are used, words can influence society's entire perception of a person or thing. Right or wrong, once certain words become commonplace, they begin to have a life of their own.

Furthermore, language in general is constantly evolving. Our world, our needs and our mindsets are always changing, so the words that we use as tools to describe them do as well. As a journalist, I have always been fascinated by linguistics. I love to read about the origins of particular words, to research the literal meanings of well-worn idioms, and to hunt for new words that more precisely fit the ideas I'm trying to convey. Why should words that pertain to illness and disability be any different?

Bottom line, everyone is an individual with different thoughts and life experiences. Just because an organization says that a particular word or phrase is best doesn’t mean that every person agrees. For instance, the phrase “differently-abled” popped up in the 1980s. The idea was to focus upon the positive rather than the negative that the person is able to do most of the things that the average person in their society does, but perhaps goes about it a little differently. Personally, I have never used the phrase. To me, it's overly euphemistic. It also seems to imply that because of living with chronic illness, I might have been gifted some sort of extraordinary ability the typical person doesn't have, such as flight or x-ray vision.

If you have any doubts or questions, simply ask the person what he or she prefers. You might feel shy or awkward about bringing up the subject; but just remember that avoiding it doesn’t mean it doesn’t exist. It’s always best to get things out in the open and talk about them. Most individuals will be glad you are making an effort! Treating one another with respect is really what it's all about.

Glimpse into the Life of Living with a Rare Disease

by RNE submissions on 03/31/17

 By Joanna Mechlinski


Having a rare disease is hard work. There’s the obvious burden of the actual symptoms, of course. But there’s also the unexpected angle of becoming an unofficial ambassador for your disease. When I was first diagnosed with polymyositis, an autoimmune disease that causes atrophy of the proximal muscles, I had never heard of it myself. Given the fact that it only affects about 1 out of 100,000, that was hardly surprising. So it stood to reason that my family and friends hadn’t, either. But of course, unlike them, it was something I was forced to learn about, and in a hurry.

That’s why it’s so important to use all the internet resources available to us. As I have said to numerous friends, if I had to have a life-altering illness, I am so very thankful that it’s during the 21st century. Not only do you have easy access to all sorts of medical information, from hospitals to prescription side effects, but you can also connect with other people in similar situations. Even fifty years ago, the odds of meeting more than a couple of those “1 out of 100,000” others diagnosed with polymyositis would have been slim. But today, thanks to social media, blogs, forums and more, you can share information with people around the world.

A small wave of anxiety washes over me whenever I step foot out of my own home. Even if it’s a beautiful sunny day to the rest of the world, my personal landscape is covered with invisible snow piles and sheets of ice. Normally, it would take just a few moments to walk from my front door to the car, but with the added obstacles it takes considerably longer. Gingerly, I keep placing one foot in front of the other; taking one careful step at a time, praying all the while that I won’t stumble.  If I do fall, I lack the muscle strength to right myself unassisted.

Very few people could truly understand what it’s like to live this way, every day, for decades. Even more disheartening, I look perfectly average at a glance. As many people with various rare diseases know all too well, it’s truly frustrating to make others fully comprehend your struggles when they are largely invisible to them. For some reason, if you walk with a cane or use a wheelchair, society at large seems to accept the fact that you might need some help. But if it’s hidden inside? Then you’re fine, of course; or, at best, you might have a few struggles, but certainly you’re exaggerating their extent.

Sure, I get upset whenever I encounter this sort of thing. Who wouldn't? But again, that's where I turn to the internet. I can vent with my rare disease friends, I can search the news to see if any new developments are in the works. And - the most important part of the cyber world to me - is that anyone can help spread awareness. Just because there aren't many Google hits about your particular rare disease doesn't mean it has to stay that way! Your voice is so important and necessary in helping educate others. Tell your story...all of us have a story that is worth telling. Who knows? Maybe some small detail you share will resound deep within another person's soul, giving them the emotional support they need to keep moving forward. Or maybe it will be the one clue that helps a doctor or researcher finally put the pieces together to develop a life-altering new treatment or medication.

Above all, take heart in the endless possibilities the internet holds and represents for rare disease.

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:

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:

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:

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 
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