Monday, November 17, 2014

Storytelling Tip - November 17

"A good rare disease story is both personal and educational. It explains the disease enough and in a way that the general public can understand. It does not necessarily gloss over the facts and couch everything in terms of hope. It is honest. It is personal."

-Sarah E. Kucharski @AfternoonNapper, writer & founder of FMD Chat - Fibromuscular Dysplasia Support

Follow today's edition of the Running on Stories series at the RARE Daily by Global Genes: Flashing “Share Your Story” Is Not Enough

Monday, October 27, 2014

RARE Daily Launch

Global Genes launches RARE Daily, a new online news magazine for the rare disease community. Hear more about it directly from the editor, Ilana Jacqueline or watch the preview video.   

Monday, September 22, 2014

Video Stories Speak to FDA

At the recent RARE Patient Advocacy Summit, a parent from the Duchenne muscular dystrophy community, Christine McSherry (@fundDuchenne), stood up and offered a valuable tip on taking home video, on your iPhone for example, to document your personal experiences with a drug, in order to be able to effectively share your perspective with the FDA (Food and Drug Administration), who review new drugs for the United States market. She made the compelling case:
"Be nimble, be novel and be innovative, and think about what's really important to you and how you capture that and think of it before. Don't make our mistake of not taking the video before because we have the technology right here at our hands but we don't always necessarily use it the way that we should."
-Day 2 livestream coverage, story at 02:09:16

For those unable to attend the event in person, Global Genes has now made the two day summit videos available online.

Checkout the animation Living with Duchenne Muscular Dystrophy, by the Takin' Charge Project in the United Kingdom, packed with great advise for young people living with Duchenne from boys with Duchenne.

Thursday, September 4, 2014

Back to School for Storytelling

-post by Emma Rooney 
Stories may be universal but being a storyteller may not come naturally. While we all have stories to share, it can be a pretty intimidating process to put our stories out-there. The availability of new technologies and new forms of media open up storytelling, but with this, comes the assumption that you should already be able and motivated to tell your own story, completely unsupported. It's supposed to be easy, and everywhere you turn you are being asked to freely share your story. I recently stayed at a hotel, that placed a postcard at my bedside table, with the kind request that I share with them a "unique story" of my travel experiences. While this may seem like a cute boutique proposal, intended to add meaning to my stay, I needed to turn over the card to prevent the ensuing nightmares. My anxiety only increases when I'm asked to contribute a story to a cause I actually care about, like raising rare disease awareness. Perhaps I'm not the only one that likes the idea of storytelling but is frightened of the actual doing. I wish that organizations requesting stories would take this into account when soliciting. Stories matter but storytellers need support! Being asked to share is not always enough to get the creative juices flowing or the necessary confidence piping.

Luckily there are a growing number of relevant resources and supports out there. The Centre for Digital Storytelling is a great place to start, especially if you're interested in going beyond pen and paper. Once I decided I would create my own digital story, I watched many of their story examples for inspiration and to try to work out what a digital story actually is (what I should be doing). They also offer an interesting array of workshops, including online options, and a collection of resources for sale. Yesterday I felt  fortunate to join a short, free webinar, "The Role of Narrative in Public Health”. The hour long session didn't allow me to unpack all my worries but certainly there were a number of helpful starting points, including considerations around balancing process (the making challenge) and media products (what everyone's asking for). Most reassuring was the importance placed on ethical practice, especially essential when dealing with health stories. The Center's ideas on this topic are publicly available online and while the emphasis here is on conducting storytelling workshops, it may still be helpful thinking for health groups wanting to use more stories.

Also don't miss out on the currently running Storymakers 2014, from TechSoup. Yes, they're also looking for your stories with a storymakers challenge, but they're offering cash prizes for winning submissions and a generous lineup of events, including today's Global Tweet-chat at #Storymakers2014. If you missed the first two free webinars on storytelling, with great examples and practical advice shared, you can still access all the information on the achieve:
The super-short video webinar would be a great offering for anyone from the Gaucher rare disease community interested in entering the National Gaucher Foundation video contest but unsure where to start. The submission deadline has been extended to September 15th. Videos are intended to support efforts of the upcoming Gaucher Awareness Month in October. 

Visit our links page for more storytelling tool suggestions and check-out the My Normal story making handouts.                                     

Wednesday, July 16, 2014

say how you feel

-post by Emma Rooney
I was first introduced to Canadian poet Shane Koyczan, along with a worldwide audience, via the 2010 Vancouver Olympics. On the sham show stage that is the opening ceremonies, it took a slam poet to speak truth to the spectacle, raising a different patriotic flag with We Are More, an anthem the seemingly unpatriotic can stand for.

Of course Shane has continued to transform common feelings into spectacular poetry, broadcasting a forgotten medium into renewed relevance. For the rare disease community, his poem, Instructions For a Bad Day, I suspect will touch an open ear. His response to the sick person's most dreaded question (how are you?) is an endorsement to "be loud and make noise." He beacons:
"Be forthright. Despite your instinct to say 'it's alright, I'm okay' - be honest. Say how you feel without fear or guilt, without remorse or complexity." 

What other invitation do we need to tell our stories, in spite of the days when it's easier to provide the expected, "I'm fine"?

You can visit Shane's website for further instruction, including his medicine, "If your heart is broken, make art with the pieces." You will also find another video version of Instructions For a Bad Day, made by high school students, and Shane talking about this and other life giving projects. 

Friday, July 4, 2014

A Medical Story from Missing Memories

Do our memories need to be intact to tell a medical memoir? 
What does it mean to investigate and report on one's own health story?

These are questions for consideration when the book author begins her public talk by first warning the audience not to trust anything she's about to say, for she holds almost nil memories of the episode in her life she will speak of. Perhaps it's good fortune that this particular writer is a journalist by trade, bringing the necessary skills to research a medical case of chaos, mental derangement and multiple miss-diagnoses. Despite the case being her own, there is a certain level of detachment, from having had to rely almost entirely on interviews with those who cared for her, medical records, and hospital video footage from time spent on the epilepsy floor, to build her personal story.

With a beam of inspiration to writers and potential writers who have untold medical stories, the author beautifully describes how this unique writing process contributed to her recovery from anti-NMDA receptor encephalitis:
“Going through it, I think re-living it, well living it, really living it for the first time, and understanding it, understanding the science, that for me was so empowering…all of a sudden I had ownership over this thing that happened to me and  putting it down on paper it became my story.”

The journalist and author is Susannah Cahalan, talking at the Narrative Medicine Rounds*, from Columbia University Medical Center, about her book, Brain on Fire: My Month of Madness. From listening to the freely available podcast, you'll certainly learn about anti-NMDA receptor encephalitis, a disease that was only very recently officially categorized and named, but the talk also has much to do about writing and storytelling. Cahalan's own website also provides readers a place to share their own stories.
-post by Emma Rooney

*The Narrative Medicine Rounds are made available free of charge on iTunes U.     

Thursday, June 19, 2014

Case for More Storytelling

A convincing case for storytelling from Our Better World, an exciting storytelling showcase initiative of the Singapore International Foundation.

Thursday, June 12, 2014

ECRD Attendance Opens Door to Narrative Medicine

My ECRD Berlin 2014 Word Cloud
Sponsored by the National Gaucher Foundation of Canada, I had the recent opportunity of attending the large European Conference on Rare Diseases, held in Berlin this time. One of the reasons I was attracted to the conference was because it was broader than my regular Gaucher disease interactions, in the North American context, even broader still than the lysosomal storage disorders umbrella I was accustomed to, yet somehow, I initially felt alone in the big room with 700 attendees. It took meeting members of the European Gaucher Alliance, during a poster session, to settle-in to the European landscape I was so eager to join. Meeting others with a shared medical experience facilitates getting comfortable in a new environment and quickly leads to rapid story swapping, where the head nods are sincere and you don’t have to keep stopping to explain yourself. I later realized, that it was my first time meeting in person other people living with Gaucher outside of Canada and the USA.

Of course this wasn’t just about Gaucher, and having a place to present my poster, “Storytelling for Health”, made it possible to connect with many people who expressed a genuine interest in the role of stories, beyond the typical lip service given to the need for patient voice. I was actually left with the strong conference impression, that in Europe, the patient community is in fact at the front and centre of the rare diseases movement, which is surprisingly not always the case. The opening plenary session presented a number of individual patient video stories to illustrate the key conference themes that would be discussed. There was also not just strong attendance from patient organizations, including patients and caregivers, but also many speakers from the patient community, with a variety of relevant workshop topics to select from, versus the typical single non-scientific option (lack of option). Slides from all the presentations have now been made available on the conference website. This is an incredible offering for those who were unable to attend or, if like me, you found sessions of great interest to be overlapping in the scheduling. Many of the posters presented are also accessible online.

With so much post conference information available on the Internet these days, I sometimes wonder if it’s worthwhile to actually attend conferences. From my perspective, I might never have found the narrative medicine field of study if I hadn’t been there, looking-out for such a thing. With my keen and vested interest in storytelling, I’m a bit embarrassed to admit that I knew nothing about this topic beforehand. Sometimes even Goggle isn’t enough to point us in the right direction and we need human guides instead. My guides to this new world came from the poster presenters who made specific mention of narrative medicine and offered inspiring real-world examples of this work within the rare disease community:
•    From Life Stories to the Healthcare System: Narrative Medicine and Rare Diseases 
•    Pegasus, a winged horse carries hopes for rare diseases 
•    The Videotale ’Con Gli Occhi Tuoi’ (Through Your Eyes): An Alternative Method of Communication in Rare Diseases 

Beyond a hunger to learn everything I can about narrative medicine, I also left the conference with a now treasured copy of the illustrated storybook, Mauricio of Uruguay, and with it, the fruitful introduction to the life, art and illness narrative of artist Mauricio Saravia. Don’t miss the incredible story of the boy who had to have the weeds inside his body pruned.
I’ll also add that, from awareness gained by conference attendance, I've signed up and started the online  European Patient Ambassador Program. This free educational program is great training for strengthening your voice as an informed patient advocate.

Many thanks to the National Gaucher Foundation of Canada for making this venture possible. 
-post by Emma Rooney 

Tuesday, May 20, 2014

what stories would you pick?

At teatime My Mom used to sit me on her lap and read me stories in the big bed. My favorite line from our Richard Scarry storybook was, “ele with the l-o-n-g nose”. I can only imagine this reciting was accompanied by tracing of the elephant’s special nose with my finger. Despite having been too tiny to remember this episode, My Mom has told me enough times of our reading ritual that it’s been transformed into a fond childhood memory, and with it, many positive associations with storytelling have held strong throughout my life.

I was reminded yet again of the power of stories while watching the beautifully made, You Only Die Once: Kate Granger’s story, promoted as part of last week’s Dying Matters Awareness Week, in the UK. I was particularly moved hearing Kate explain how, along with her candles and music, she’s also picked out the books she'd like her Mom to read to her when the time comes for her to die. Kate is a prolific tweeter (@GrangerKate), blogger, writer, doctor and also a patient with an incurable rare cancer. She started the think shifting campaign #hellomynameis that advocates for patients to be seen as people and encourages healthcare workers to take the time to introduce themselves to their patients as a normal standard in the delivery of care.

Storytelling for health means something far greater to me than just a complementary approach to “traditional medicine”, but yet, discovering just this month that there is an actual academic field and clinical practice called Narrative Medicine came as an affirming surprise. I hope this new awakening will empower my voice as a storyteller as I uncover more about the emerging (ancient) field. I recently edited my twitter profile (@blumencasey) with my education wish: Want to learn Narrative Medicine now.
-post by Emma Rooney 


If you'd also like to learn about Narrative Medicine, Dr. Rita Charon (Columbia University) provides a powerful introduction with her TED Talk, Honoring the stories of illness. I'll be sure to continue sharing as I discover more about this important topic.

Tuesday, May 13, 2014

Running on Stories with Roses

-post by Emma Rooney

I carried a single dried rose petal while recently competing in my first ultra-marathon. The pink petal, that came along for the ride, had arrived tucked into an envelope with a book of poetry, titled Parkinson’s, Shaken not Stirred, from a writer living in Israel. The petal in my pocket reminded me of its sender, and with this, to remain joyful, to steady my breathing and to keep going when the going got tough, over the 53.9km hilly path.
I’ve been into running for some time, but less than one year ago I had yet to run my first marathon and I had never even heard of ultra-marathons (running races beyond the marathon distance of 42.1km). Then last
October, during Gaucher Awareness Month, I happily made it to the finish line of my first full marathon. Soon afterwards, I surprised (scared) my husband by announcing that I was training for a 100km night ultra, to take place in our area at the start of summer. Not only was I training but I had in fact already registered, even without knowing if I’d be able to do it (run that far and long). Despite some legitimate concerns from those around me, that I may be overdoing it, I’ve stayed committed to at least trying to accomplish this distance goal, while focusing on remaining healthy and safe preparing.

It was the experience of being a "patient partner", with the 2014 Genzyme Boston Marathon Team, Running for Rare Diseases, that brought new resolve to my training commitment. From having the unique experience of a running partner, Andrew Scholte, a Genzyme scientist, run a marathon for me, I decide to run my upcoming ultramarathon for someone else living with a rare disease, Elaine Benton, and continue to carry close the rose petals sent from her garden.

Despite our 20 year age difference, Elaine and I have many common interests, including cooking, gardening and writing. We also both live with Gaucher disease, but it’s likely, in this case, that our age difference is a contributing factor in our differing disease progression. Elaine had to wait that much longer for access to treatment to arrive. While the privilege of being able to run with the wind brings me strength, it is not a possibility for Elaine and her Gaucher bones. Even without the age factor, the experiences amongst people living with type 1 Gaucher disease are known to be extremely diverse.

Along with Gaucher, Elaine lives with Parkinson’s, a disease that in more recent years is receiving greater attention within the Gaucher community and research focus. While Parkinson’s only impacts a very small portion of those with Gaucher, and some carriers as well, there appears to be an unfortunate link emerging (as if one chronic condition were not enough). Until starting to follow Elaine’s writing, through her blog, weekly Huffington Post column and book of poetry, I must confess that the connection between Gaucher and Parkinson’s was not a relationship I cared to dwell on.

That was before the day a Google Alert led me to Elaine Benton’s story, she wrote:
I was born with Gaucher disease, a genetic disorder unknowingly passed on from my parents; a birthright I could have well done without. Some inherit the family estate, jewelry or a fortune, but my inheritance wasn’t something written in a last will and testament and handed to me in an envelope; it was unintentionally concealed in my DNA.
I felt an immediate connection reading this piece on Gaucher Awareness Month and proceeded to reach out to Elaine with a request for a story for the My Normal project. Almost instantly Elaine responded and thus began our “rosy exchange”. Not only did I learn Elaine’s childhood story of growing up in England with Gaucher, I also received a beautiful photograph of Elaine with a bouquet of roses. The accompanying message read:
I visited your [My Normal] site and listened to your story which I found very similar to my own, although I am much older than you…As for pink roses, when I gave birth to our only daughter (who is thankfully just a carrier) my husband brought to the hospital a basket of pink roses for me.
I was touched by the connection our correspondence unveiled. Elaine had watched my digital story, Emma’s Garden and understood intimately the part in my story where:
Straight away my mom and I were surrounded by flowers in the hospital. The first to arrive, even before word had spread about my birth, was a beautiful bunch of pink roses.
Elaine went on to write:
I recently had my 50th birthday, and [my husband] surprised me by giving me the biggest bouquet I have ever seen – 50 pink roses! So it appears we share much in common – but mostly Gaucher!”.

For me it happens that:
Every year on my birthday a bunch of flowers arrive to remind me of the love that surrounds me, starting from the day I was born.

A single inbox message fed the exchange of stories that carries me along a pink petal path. May my preparation journey to 100km continue to be strewn with flowers and friendship. I am training to run the distance for myself, for Elaine, for Gaucher and for rare diseases. #WeRunTogether


I will be taking part in the Ulmer Laufnacht (Ulm Night Run) starting at 11pm, on Friday, June 20th, in Germany. I expect to take about 13 hours to run the 100km course distance. I hope the run will raise positive rare disease awareness, especially of Gaucher disease and the Parkinson’s link. You are invited to send your good vibes, in support of this one petal drop effort, towards the Global Rare Diseases Movement.

Get the post-race update and find out why your support matters.

Wednesday, May 7, 2014

ECRD Poster Presentation

Come check out our "Storytelling for Health" poster at the European Conference on Rare Diseases & Orphan Products (ECRD 2014). We'll be presenting as part of conference theme 2 (Knowledge Generation & Dissemination) during Friday's poster session (May 9th).

The next step after the conference will be the preparation of a larger storytelling toolkit. To broaden our input for the toolkit, from storytellers in the rare disease community, we have reopened our storytelling survey for the duration of the conference. Thank you to all the incredible storytellers who have already taken part in the survey! 

Thank you to SPIESZDESIGN for generously donating the creative design.

Link to download, print (8.5 x 11 inches) or share

    10 Ideas for Getting Started on Your Story

    Considerations for Organizations Seeking Real-Life Stories 

Tuesday, April 22, 2014

Gaucher Video Contest

In celebration of its 30th Anniversary, the National Gaucher Foundation, Inc., in the United State, is promoting a video contest that allows entrants to tell their unique Gaucher story and get the chance to win prizes and have their video showcased to a national audience. The contest closes August 29th, 2014 and full details (including contest guidelines) are available on the Foundation's website.

To promote the contest, Rosina Papantonio, Marketing Director at the NGF, agreed to be interviewed by Emma on video making, storytelling and other things. If you're thinking about entering the contest, Rosina offers some great tips to consider, sharing her own experience of promoting awareness of Gaucher disease and cancer through video.

Question 1- Why did you decide to make the Apples, Oranges, Cancer and Gaucher video?

In 2011, we were not sure that I would actually make it out of the condition in which I found myself.  I had small lymphocyte cancer (SLL) and  small lymphocyte leukemia (CLL).  Then a much more serious cancer was diagnosed 3 1/2 months later with a much worse cancer called diffuse large B cell Lymphoma.  The doctor missed it and as God would have it - it was picked up by Shands teaching hospital in FL.   However, I was not receiving the treatment that I needed to combat such an insidious cancer.  The good part is that I did wind up at Emory University Hospital in GA.  That is why I am here today.

At some point, I decided that I wanted to make a difference in the life of others who had cancer and those who had Gaucher disease and knew that I would be the perfect person to produce a video, based on my Gaucher background and my personal cancer experiences and the fact that I am in marketing.  I wanted people to understand there are few warning signs about cancer, but that Gaucher disease had many warning signs and there was treatment.  I wanted to present something hopeful, but real in case I never got another chance.

Question 2- How are story videos a useful tool for the Gaucher community?

When people see real people talking about their real experiences with anything, others are more apt to trust them and feel a kinship with them. As we know, those with Gaucher disease and those who have it in their family run the gamut of emotions.  Between pain, happiness, sorrow, loss of a child, extreme changes in their lives, having treatment for their entire life and on and on.  Those not involved with Gaucher disease would be astounded to learn not only how Gaucher can affect the body, but the very serious comorbidity issues as well.  To see and hear people speak from these experiences is a very powerful and visceral experience for many.  It moves people in an entirely different way than hearing about the disease through a doctor or institution. 

Question 3- What's been the experience for you when you discover a new video about Gaucher and how do you share it?   

Among many other uses like meetings and conferences, there are a few ways we share.  New videos go right into our media library and we rotate and feature them on our homepage and I use them in our internet banners and SEM ads.  It is remarkable how much better Gaucher ad responses are when you give the public a real life person or people in the form of a video.  It is the difference between a yawn and a gasp.

Education is of paramount importance, so however we have to get to people, we will use any of the marketing devices, systems, forums and platforms at our disposal.  If you have Gaucher and you do not know it, how can you be helped?  In 1984, without treatment, what could anyone do or say to help save people with Gaucher?  Today, because we have treatment, we can help people, but without education how would anyone know 1) that Gaucher exists and 2) that there is a treatment for Types 1 & 3.  Bottom line is all of the people involved with marketing and treating Gaucher help to save lives.  That was barely possible in 1984 - before Genzyme's Ceredase came on the market.

Question 4- As someone who has made a video, what's one tip you would share with others looking to get started on their own health story video?  

Touch people's hearts.  Be real and show your heart and your emotion. Your intellect will rule as to what you should say as it relates to factual information, but no one can take away from you your own experiences, how you were affected and how it helped or hurt you.  Nothing takes the place of your own humor about your disease and your own philosophies about your diseases(s). If God spoke to you while you were walking one day, that would be remarkable and uplifting.  It does happen to people.  Wouldn't you like to know someone to whom that happened and wouldn't it be comforting?  Wouldn't you like to share that with someone who was in their darkest hour?  People can help others through sharing, comforting, caring and touching their lives.  Sometimes, in the smallest way.  You, Emma, never may know all of the lives you have touched.  I am in some ways, a recipient myself.  Because you touch me, I want to help you.

Be sure to check-out the NGF Video Contest. Contest closes August 29th, 2014.

Friday, April 18, 2014

Storyteller's Survey

A recent newspaper headline,
has left me pondering lately, late into the night, many questions regarding the role and value of storytelling in the rare disease community. As someone who considers myself to be a storyteller, the topic isn't a new theme of my thoughts but the longing to get outside my own head and hear what others in the community have to say has grown ever more hungry. 

Perhaps you too have noticed the requests for "real stories" in the rare disease community grow exponentially lately? There seems to be many new online platforms developed by different groups, including My Normal, to facilitate story sharing in the current rare disease environment. Even without any prompting, many of us are already taking advantage of social media tools to put our stories out there, for a variety of reasons and interests.   

The growing opportunities for storytelling are definitely an exciting development in knowledge generation & dissemination for the rare disease community but perhaps a tad overwhelming simultaneously. There feels like there's also a space opening up for talking about the changing role of storytelling in the rare disease sector and undoubtedly a plethora of perspectives to bring to the table about what's happening.

Inspired by the menacing headline, I decided to pull together a survey with the plan to try to capture some of the perspectives, with the intention of sharing the information in a way that supports the future of storytelling in the rare disease community.   
Persons Living with a Rare Disease
Patient Organizations
Healthcare Professionals
Pharmaceutical Industry
Media Consultants
Other (please specify) 

Please consider taking part if you've participated in the creation or sharing of a rare disease story, your own or someone else's, in a personal, public or professional context. You might keep your own blog, have written a book, made a video or given a talk. It doesn't matter how you get the story out there. The more perspectives the richer the outcomes. Click for more information and to take part.

The survey deadline has been extended until Sunday, May 18th. Some of the results will be presented by poster at the upcoming European Conference on Rare Diseases & Orphan Products in Berlin.  

Monday, April 7, 2014

Writer Ann Yurcek on the Power of Stories

For insights on what turns "just a mom" into a writer be sure to read Ann Yurcek's recent article for The Global Genes Project, Our Stories Do Make a Difference: Rebecca with Noonan Syndrome. Yurcek poignantly describes how she came to writing early-on in dealing with her daughter's syndrome:
"I had kept a journal, writing the deepest thoughts and a few of the pieces of those snippets of my writing would be shared. But I was just a mom, not a polished writer– just writing to cope with extraordinary circumstances and challenges." 
She would develop her craft to be able to share her daughter's heroing story and the story of their family many times over, including writing an award winning book and journal article for Health Affairs. Yurcek not only defends the important role of storytelling but also offers encouragement to the storyteller searching for their voice.

Be sure to also check-out other Patient Stories from The Global Genes Project (you can submit as well). They are currently running a unique storytelling contest, the catch (opportunity) is that you have just six words to tell your rare disease story (deadline April 15th).    

Friday, March 28, 2014

My Childhood with Gaucher Disease

I was born in 1963 in England, and had four older brothers. Although I was a large baby when born, weighing in at 9lb 2 oz. as time went by, I got thinner and lost a lot of weight. My mother having already much experience with babies bringing up my four brothers, she knew instinctively, as mothers do, that something was terribly wrong. I found it difficult to eat sometimes, or often didn't want to eat at all. If I fell or knocked myself, as children will, I would end up with large bruises. As the years passed, it was very noticeable at how short I was, my limbs were extremely thin, my skin a very pale colour, but most of all I had a huge tummy.

When I was five years old, by this time, my brothers had also shown signs of ill health and suffered bone pains. As soon as one of my brothers was diagnosed with Gaucher disease, it didn't take long for the doctors to realise that I probably had the same rare disorder, caused by a genetic mutation from both my parents, resulting in a deficiency of a specific enzyme (glucocerebrosidase) in the body. I was taken into hospital where they performed a bone marrow test, using a large needle that punctured my sternum bone, which was the only way of testing for Gaucher disease in those days. I was thankfully anesthetized during this very painful procedure, but remember laying on the hospital bed, just becoming conscious, and overhearing the doctors talking next to me. Their prognosis sounded very dismal, and they agreed that a child in such poor condition with a rare disease which had no known treatment or cure at the time, would probably not survive much past puberty.

I remember hearing this, but not being afraid; it simply explained why my tummy was so large, why I bruised so easily, and had nose bleeds that just wouldn't stop. I once had a nose bleed that lasted six hours and needless to say ended up in hospital due to this episode.

I wasn't allowed to do sports at school for fear of hurting myself. I was a child with no support group, never met another Gaucher patient (apart from my two brothers), no treatment, and no doctors who understood the disease. I felt very isolated and unsure of what my future held. Suffering a chronic rare disease had a marked effect on me, molding me into the person I am today. I was never afraid of dying, and as a child, believing I didn’t have very long to live, this absurdly gave me the ability to enjoy every moment I have, no matter where I am, or what I am doing. I grab life with both hands and make the most of it. I have a strong fighting spirit and my sense of humour remains in tact. I starting writing stories and poems as soon as I could read and write, expressing myself on paper, which I now realise, was therapeutic in a sense.

I had my first major bone crisis in my left knee when I was 11 years old, and was hospitalized for three weeks. The doctors didn't know what was wrong, for nothing showed up on an X-ray and yet they could see I was in excruciating pain, and couldn't even stand up let alone walk. I was given Aspirin for the pain, which was as effective as giving me chocolates, for this did nothing to relieve the pain. I had many bone crisis after that and eventually at the age of 14 I had my enlarged spleen removed.

I grew up, finished school, started working, and married a wonderful man. I became pregnant and after a normal uneventful pregnancy, I gave birth to a healthy baby. I am now 50 years old; I guess those doctors who gave such a poor prognosis back in 1968 were very wrong.

Twenty two years ago, I met a professor who specializes in Gaucher disease and it was an unforgettable moment. Just seeing the small simple sign that said ‘Gaucher Clinic’ was an extraordinary feeling. For the first time in my life, I sat before someone who knew about Gaucher disease. I started enzyme replacement therapy by infusions, initially at the hospital, but thankfully, ‘home treatment’ was eventually put in place improving my quality of life, by not spending countless hours in hospital on a regular basis.

As if suffering a rare chronic disease was not enough, at the age of 44, I was diagnosed with Parkinson’s disease. My life became very difficult indeed now struggling with two diseases. Turning to my writing again, in 2011 I wrote a collection of poems which was made into a book called "Parkinson's, shaken, not stirred" about living with Gaucher and Parkinson's.

What started as merely a few poems, spiraled into an entire project, resulting in me writing a daily blog which is read in over 70 countries around the world aimed at sufferers and caregivers,  letting them know they’re not alone in their struggles, writing once a week for The Huffington Post about living with chronic disease and the occasional public speaking engagement. I have become an advocate for Gaucher and Parkinson's; my aim to bring greater awareness.

I am very fortunate to have a supportive husband and family around me, and couldn’t wish for better medical care. So despite adversity, I have a lot to be thankful for.

-Elaine Benton, living in Israel

Favorite Photos

These are some of my favorite photos prior to diagnosis. In retrospect, I had some slight symptoms of Gaucher even then, such as an enlarged spleen and nosebleeds. But mostly, these photos are of a time before we could even conceive of something like a life-changing disorder. My favorite is the family photo from my grandparents' fiftieth wedding anniversary. The photo on the driveway is with one of my favorite people, my grandfather, the only member of his family to survive the Holocaust. And then there is the photo of my dad and my sister and me. We got into Dad's cigars.  
-Wayne Rosenfield, United States

He is…

When I am away from him I feel sad for him. I feel angry that he has to go through life faced with such an overwhelming challenge. I feel scared of the unknown.
I can read a lot of literature about Gaucher disease but I feel I can never truly understand it. I can't comprehend how my beautiful nephew has it. It feels mysterious to me.
When I am with him I see my imaginative, caring, generous, intelligent, courageous, mindful and mature nephew. He is not sad. He is living his life as any child would.
He is strength
He is love
He is positivity
He is a reminder of the beauty in life
He is my amazing nephew and when I am with him he is not Gaucher. That is part of him but he does not allow it to be who he is!
He is not afraid.
He is a fighter
He is my everything!
-Poem from Cody’s Aunt Michelle
Calgary, Canada

The Way I See it

Interview with Cody from Calgary, Canada 

Interview conducted by Cody's Mom, Anita

1.     What is Gaucher disease?
It’s a disease where you have to get a treatment of enzyme that breaks down fats, and it can make me tired if I don’t get my treatment.

2.     Do you think you are different because you have Gaucher disease?
Yes, it’s a rare disease, not many people have it. And in my school I think I am the only one that has it.

3.     Is there anything you can’t do because you have Gaucher disease?
Yes, I can’t play football because if I get hit in the chest I would have to go to the hospital.

4.     What is hard about having this disease?

I don’t like that if I have to get a new port put in, I have to miss school and most of all gym! Sometimes I feel tired and I do not like the “pokes”.

5.    Is there anything good about having Gaucher disease?
Yes, I get my treatment and when I get my treatment I get to play video games. I also get to do really fun things at patient meetings. I am different.

6.    What advice would you give to a child who just find out they have Gaucher disease?
STAY CALM and it’s going to be okay. If you like video games, get your treatment as much as you can.

7.     Do you think it’s cool to have Gaucher disease? (Cody wanted to add this question.)
Yes, because not many people have it!!!!!!!!!!!!!! GO-SHAY!!!!

But he does have Gaucher

A Mom's Perspective: getting the diagnosis call

My name is Anita. I am the mom of a 9-year-old boy named Cody who has Gaucher disease. I remember seven and half years ago like it was yesterday. I was pulling the car into our garage. I was on my cell phone. I heard the soothing but firm voice of the doctor on the other end of the line say, We have tested for two diseases. Cody does not have Niemann–Pick disease, but he does have Gaucher disease. My thoughts were, What is that? Is he going to die? What does this mean? I felt numbness, a lump in my throat that didn’t go away for a long time, and guilt. The guilt. This is from me!!! I thought. The doctor continued to say, Thankfully he does have this condition [rather than Niemann–Pick disease], as there is available treatment if needed. Little did I know at that moment that because of the dedication and courage of a handful of individuals, this treatment would eventually become available in Canada. I would be forever grateful to these advocates and love them. Little did I know that I would meet a community of people who inspire me with their stories, who I admire for their acts of courage, and who always make me feel supported. From day one of Cody’s diagnosis, it hasn’t been easy. Countless hospital visits, surgeries, and the difficulty of seeing my child suffer from and endure pain. Wishing every day I could take it all away. But it is our life, and we embrace and get through each day with courage and a smile. I work with children with extreme special needs. Sometimes I just sit back and look at other families going through scenarios I could never imagine. I always think how lucky we are or how much worse it could be. Although Cody’s life may have some limits, I really believe his life is limitless.