Friday, April 18, 2014

Storyteller's Survey

Click here to take 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 will remain open until April 18th and 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, England

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.