power of the written word...

 

Rare Disease Day 2010

february 28

this subject is profoundly important to my way of "seeing". perhaps in many ways is the very fever pitch desire within me to create. it comprises my every day and weaves its way into dreams at night, transforming my litany of loss with a passionate calling to provide a brighter future through education, patient advocacy and ultimately newborn screening.

and to you out there...who take the time to express the sojourns of your heart. who share your struggles, inner most thoughts, hope and dreams, never underestimate the power of your words. 

friday, at a patient meeting, a woman sought me out. as she shared, i was riveted to the moment. my heart stopped. there was no distance between her eyes and mine as we drank each other in, having experienced the same desperate search.  in the middle of a dark night when everyone we loved was sleeping the dreams of a comfortable life, in our complete aloneness, we searched for some thin thread of understanding, hope, direction. our lives were imploding. we felt our bodies failing and no one, in all our months of searching had offered a shred of understanding. she typed in each devastating symptom one by one. finally, it led her to a link where she began reading a patient testimonial. it was as if every word was emblazed on her heart. validated, she found courage and it led her to the right doctors and finally a diagnosis. the only difference in our experience is that all those years before her, the one link i found, was AMDA. the story she found, was my mine. this means more to me than i can possibly convey. the courage it took to publish my journey became a light of salvation for another.  i wrote this many years before a enzyme replacement therapy   became available.  it is an important prelude to my life today, a saga of the still average ten years to diagnosis and the irreparable destruction that ensues in those lost years of waiting. it is why i am determined to take on the compelling need for new born screening, one state at a time.

Who would have imagined ones life so bright with promise, so teaming with possibilities becoming a litany of loss? Where in the end, my greatest achievement would be putting into words the haunting reality of a life devastated by a rare disease?

Once in a blue moon comes a night that takes me out of this broken body. In my night dream I am running. I can feel each capable foot push off the firm believable earth. I can hear the strength of my breathing in reassuring rhythm. I am jubilant in my returned memory of a body whole, firm and radiantly beautiful in its perfect cadence.  

Looking back I can clearly see earmarks of the destruction to follow. I always wondered why, try as I may, I could never keep up with my peers. Why did I feel like I was going to die on those mandatory two mile runs? It was embarrassing to be left in the dust, so far behind. So frustrating to feel my painful efforts crumble while everyone else seemed to glide effortlessly by. 

This was my first taste of the isolation that would follow.  A recurring pattern of countless heartbreaking attempts to participate, contribute and achieve gone awry.  A life meant for living that would deteriorate with a persistent tenacity. Spirited, enthusiastic and in love with life, my most personal endeavors, hopes, dreams, aspirations; nothing would remain unscathed. 

I was in my late thirties when things went horribly wrong. It started with a flu that was devastating.  Taken to a local doctor we went through all the normal tests: strep throat, bronchitis, mononucleosis. When he announced they were all negative I couldn't help but cry, "I know something is terribly wrong....please do not make me leave without helping me." I was the fortunate one.  How many countless others are turned away by doctors who do not recognize or believe their symptoms? This doctor felt my utter concern and took me seriously. He came back with a handful of blood tests. One revealed an extremely elevated CPK.  So the saga of being recommended and passed from one specialist to another began. 

It was a nearly three year process as my body continued on its downward spiral. Finally at the Mayo Clinic all the pieces of my cruel puzzle came together. There in 1998, it was finally confirmed by muscle biopsy that I am a person with adult-onset Pompe's Disease.  The specialist delivered my diagnosis with brazen regard. He announced that "I should go home, do everything I had ever hoped to and get my estate in order."  I asked for advice on diet and exercise. There were bad days and better days, surely there must be something I was doing that affected me in a positive way. 

He laughed and said I could never eat enough protein in a day to turn back the devastating effects of this disease and under no circumstances should I exercise. He assured me that "good and bad days" were all in my head.  His final and most demoralizing remarks were "don't ever hope for a treatment or even research. What you have is referred to as an orphan disease, effecting far too few people to ever make a profit for a drug company".  I had just become the recipient of a fatal disease and one of far too many people who are given unreliable information, turned away without direction, support, or even hope.

Demoralized I NEVER returned to see him again, I also did not heed any of his advice. What I did do was hunt relentlessly for answers. I will never forget, after months of searching, the night I found the Acid Maltase Deficiency Association website.  Sitting in silence, tears streaming down my face, finally there were answers. Here was a great organization dedicated to educating and supporting those with glycogen storage diseases. I read EVERYTHING, patients’ stories, research articles, the history of glycogen storage diseases. I found an article on diet and exercise by Dr. Slonim. Immediately I called and made arrangements to fly to N.Y. to see what he could offer. 

I also discovered most of what the" specialist"  told me was untrue. Exercise and diet do play significant roles in protecting my quality of life. In 1932 a Dutch pathologist, J.C. Pompe, discovered what would be named Pompe’s disease, beginning research "I should never hope for!" That there was a treatment being tested to serve as an enzyme replacement therapy that showed promising life guarding capabilities.  For the first time I heard of a company named Genzyme that believes investing in people with orphan diseases is a worthwhile pursuit.

Life moves forward like a giant graceful wheel through the seasons. Friends and family move closer to achievements and life dreams. In growing isolation my journey took me disturbingly closer to more loss where parts of me died in increments everyday.

Think of birds.....land birds, tree dwellers, I feel much like them.  My territory is clearly defined. I dwell in a world that resides exclusively above my waist and as high as my arms can reach.  If I drop something...it is out of my world. If it is above my head...there's no getting on a chair or ladder to reach for it. If I fall I cannot get up. 

Once, my interests and enthusiasm took me in a myriad of meaningful directions.  For years I worked on a cruise ship and traveled the world. I snorkeled exotic reefs, biked and hiked rugged hillsides of fern embraced forests, visited heritage sites, museums, and studied important folk art traditions and cultures. I shared a weaving studio and wove incredible rugs from a lost tradition. My textiles hung in the American Craft Museum of New York. My art traveled in gallery shows as far away as the Netherlands. Now I struggle to navigate a world that revolves around my bed, bathroom, kitchen, and only what resides above my waist. 

It's all just so many words. The fatigue, the pain so intense I can barely walk. My deepest struggle is having such a vital, passionate desire to live a life well lived. My optimism and desires are just as alive and intact as when I was healthy. The frustrations lie in having all the momentum and inspiration a heart can hold, and a body that cannot possibly deliver. More and more I am forced to reinvent myself. Let go as gracefully as possible to the ever growing list of what I now cannot do. Try and focus on what is still possible and be grateful for it. 

My life seems like a sorry collection of little deaths. As others count their achievements and make plans for the future I struggle to navigate through life one day at a time. So many friends lost in the disparity between their pursuit of a healthy lifestyle and my mounting disabilities.

With a viable enzyme replacement therapy so close on our horizon, I know more than ever the importance of early diagnosis. The desperate need for increased awareness in the medical community to recognize those with rare disorders. The importance of accurate, proactive, life enhancing regimes offered to those affected with these destructive diseases, and insurance companies willing to provide them. The sharing of hope. Hope that no more people will be turned away because of a health provider's disbelief of their symptoms. A viable test to reduce the average ten years to diagnosis. Assurance that no more people will be turned away without hope or direction because of orphan disease status.  

One thing is certain; we are all inextricably bound to one another.  Developing cures for any disease opens the door to understanding new treatments that will benefit countless others.......

In the belief that knowledge and understanding will make a brighter future for those yet to come I offer my story. Rebecca Brooks, once fiercely independent, wildly passionate, someone willing to live life straight from the heart, I sit before you in all my fragility. Stripped of a healthy life rich in possibilities I offer you this. All my suffering multiplied by all my losses can be my swan-song, if it can help pave the way to a brighter future for all those yet to come. 

Comments

[elizabeth bunsen]

thank you
sweet friend
for your blazing heart
and the trails
that you are so bravely
blazing for others
that our paths have now crossed
has forever altered
my way of "seeing"
for this and more
I am ever so grateful...

xox - eb.

[Meri]

You are still wildly passionate, my dear, dear friend. I love you and your brave heart.

[elizabeth]

Thank you for this amazing post -- for your testament -- your witness.

[Maija Lepore]

You move me. You amaze me. I adore you Rebecca! You are so vital and passionate in my eyes!!

[deb taylor]

Rebecca, you are brave, wild, full of grace, passionate, and the true definition of HOPE. Thank you for spilling open your heart to us all. We needed this flood. I am immersed in you.

[wini]

Dear Rebecca, you are so brave to have been through so much suffering, and to share so honestly in your post. I was very moved. Your wonderful spirit, strength, passion and personality shine so brightly!! I'm so glad I met you online. You are a real inspiration! :)

[Stephanie]

Rebecca, what you offer others of yourself here is indispensable. Just as the women you met who searched and searched and FOUND you, others will find HOPE here.

We are all indeed blessed to have crossed paths with you.
x...x
steph

[rochambeau]

Dear Rebecca,
Coazon aflame~
Thank you for your words, your courage, your grace. You are a Survivor!! and YOU will reside in my prayers.
My mom also has a rare disease. Also a dr. that said horrible things once to her that were NOT true. She is like you......intelligent and a fighter!

Thank you for helping others through your words.
Love,
Constance

[Lee Anne]

Rebecca, you are an amazing woman...full of life...I am blessed to know you( even if only in cyber space) and Thank you for sharing your story.... beautiful soul.

[bethany]

wow.
this took my breath away.
you write like flames, like crashing waves, like pelting rain. i felt every word.
this is so raw and beautiful.
your life is incredible to me.
i feel ashamed that i have such trouble living and moving when my body is healthy.
you are like a glorious bird to me, circling around, showing me what life could be, should be.
i am so amazed at your strength and preserverance. That damn first doctor, orphan disease. ugh.
look at you now. i want him to look at you now. of course food and moving matters, of course you matter.
you astound me.

love love love
and awe.

[abi monroe]

Oh my gosh. I am speechless as I sit here and worry about stupid trivia.

I think you should write a book.

[Leslie]

I've been reading your posts tonight about your illness. I don't know why I didn't see them before - perhaps I wasn't meant to read them before now. Rebecca, your light shines, so brilliantly. You inspire me.

[Leslie]

Okay, I had to come back and read this again. Genzyme rang a bell, and I looked it up to find they also make "Seprafilm," an adhesion preventative. I actually had one of the surgeons who works with Genzyme operate on my adhesions twice in the past 4 years. Unfortunately, the operations were not successful. But Genzyme is still working on new products, including a gel that can be used to prevent intestinal adhesions, which is what I have. It may be too late for me, as I have lost so much intestine that more surgery is contra-indicated unless it's lifesaving.

Obviously, I relate to so much of what you write about your illness. The pain, the extreme lifestyle changes. My changes are different than yours, yet we have much in common. I particularly relate to this:

"My deepest struggle is having such a vital, passionate desire to live a life well lived. My optimism and desires are just as alive and intact as when I was healthy. The frustrations lie in having all the momentum and inspiration a heart can hold, and a body that cannot possibly deliver. More and more I am forced to reinvent myself. Let go as gracefully as possible to the ever growing list of what I now cannot do. Try and focus on what is still possible and be grateful for it.

My life seems like a sorry collection of little deaths. As others count their achievements and make plans for the future I struggle to navigate through life one day at a time. So many friends lost in the disparity between their pursuit of a healthy lifestyle and my mounting disabilities."

And yet I am finding new joys and new friends through this world of blogging, including wonderful you.

I read in a later post that you are having the new enzyme therapy. Has it helped to stop the progression of your disease? I hope and pray it has. And whatever path you and I walk, may we walk in grace.