Running The Boston Marathon — Together

Running for Rare pairs up runners and rare disease community members to raise rare disease awareness and raise funds for the the National Organization for Rare Disorders, Inc. (NORD) and National Institutes of Health (NIH) Undiagnosed Diseases Program. 

As a fibromuscular dysplasia patient, I have been fortunate to be a patient partner for two years now — first with Jessi Colund in 2015 and now with Martha Staples. I am humbled to be a source of inspiration for these women who have put in mile after mile and will be at the starting line for the 120th Boston Marathon bright and early on April 18, 2016.  

I am not a runner. I never have been, and I don't anticipate I ever will be. A physiatrist friend of mine is recommending I start a program of "vigorous walking" for five minutes a day for four to seven days and then doubling that to 10 minutes a day. He wants my heart rate up. I told him that unloading my groceries gets my heart rate up. It's a matter of stubborn chicken and stubborn egg. If I exercised more, perhaps I wouldn't tire so easily, but I tire so easily, so I don't want to exercise more. A.K.A. — it's hard, I don't want to do it, please wave a magic wand. When I invent the magic wand, I'll be sure to let you know. 

Martha and I have been getting to know one another through email, Facebook, and phone calls, and we wanted to share a bit about ourselves and our partnership with those who may also be runners or rare disease patients. 

Name: Martha Stapels

Age: 39

Job: Principal Scientist (Chemist who analyzes proteins)

Years Running: 4 years in grad school, 10 year hiatus, 4 years since, so 8 years total

Years with Running for Rare: 2 years

Longest Run to Date: 28 Miles!!!

Marathons Already Completed: 5 (Portland, OR 2002, Baystate 2014, Boston 2015, Grandma’s 2015, and Marine Corps 2015)

Why Are You Running: To raise money and awareness about rare diseases and to inspire my kids to dare to try hard things.

1) Tell me about a time when you wanted to give up — but didn't — and what it was that drove you onward.

There is always a point in a long run that I want to give up. I try to think about strong runners who inspire me, my kids, my friends, my family, my patient partner, my running coach. Honestly, doing scientific research is very similar to running a marathon. It’s a long slow process and more often than not, things don’t work the first time. Being part of a team helps, and trying to move things forward every day is the only way to make progress. Thinking of who you’re working (or running) for really helps when you want to give up.

2) What is your personal motto?

Courage without fear

3) For what in your life are you most grateful?

I have two beautiful, smart, amazing, healthy, funny kids.

4) What are three songs that make you feel good no matter what?

Indigo Girls, "Closer to Fine"

Missy Elliot, "Get Yur Freak On"

Katrina & the Waves, "Walking on Sunshine"

5) Assume have have unlimited resources and no limitations of any kind (time, money, distance, companionship, family/child care, etc). What would you most like to do?

Travel and run all over the world. Experience all of the beautiful beaches. Take my kids to see amazing waterfalls.

Name: Sarah E. Kucharski

Age: 35

Job: Coordinator of ePatient Programs at Stanford Medicine X; independent consultant

Years Running: 0

Years with Running for Rare: 2 years

Longest Run to Date: I ran the mile back in grade school for the Presidential Fitness Test.

Marathons Already Completed: 0

Why Are You a R4R Patient Partner: The physical and mental fortitude it takes to run just amazes me. I admire runners' drive to carry on past the pain. Such ability is something I hear echoed in the rare disease community, as so many patients have no cure and no treatment but persevere.

1) Tell me about a time when you wanted to give up — but didn't — and what it was that drove you onward.

After I had a stroke at age 27 and was working part-time, I decided to go to grad school. My program required one science course. The course offered at the time was online and about biorhythms. The professor was out for the semester and had left teaching to an assistant. I'm a good student. When I — and a majority of other students — failed the first few assignments, it was clear that something was amiss, but to make matters worse we only received our failing grades after the course's drop date. Even though offered an exception to the drop date, I was in a bind. Another science offering for the program wouldn't be until two semesters away and thus delay my graduation. I used my frustration and anger as a catalyst. I studied, learned how to speak the language the TA wanted, helped other students as much as possible, and learned from others. I resented that the material in and of itself wasn't that hard and that the TA wasn't grading on whether students understood the material — just whether they could regurgitate what they had been told. In the end, I passed the class with an A, and followed up with administration to improve the course and the program overall for future students. 

2) What is your personal motto?

"Many times in your life you may feel that you are failing, but ultimately you will express yourself, and that expression will justify your life." — from Irvine Stone's Lust for Life

3) For what in your life are you most grateful?

I absolutely treasure my parents. They are my advisors, my confidants, my friends. I admire them for their values and the strength and courage they have shown in being MY parents. While being such incredible supporters, they also have allowed themselves to be emotionally vulnerable, which has helped us get to know one another as individuals. 

4) What are three songs that make you feel good no matter what?

Tom Petty & The Heartbreakers, "I Won't Back Down"

Chemical Brothers, "The Test"

London Grammar, "Hey Now" (Arty Remix)

5) Assume have have unlimited resources and no limitations of any kind (time, money, distance, companionship, family/child care, etc). What would you most like to do?

I've been working on a bucket list for several years. I've been fortunate to check off many things on that list, while some have been scratched off for other reasons and new things added. The top three things on that list are 1) pet a tiger 2) get more than a magazine article published — preferably a book 3) write a book. 

Help me recognize Martha's dedication and efforts to make a difference in the rare disease community by making a donation to her fundraising page, available via Crowdrise.com at http://bit.ly/1TbgUbE.

Bucket List Redux

It's been sixteen months since I began putting together my bucket list. It's a list that I harbor in the back of my mind, sometimes as a source of inspiration, sometimes as a nagging burden, as I ask myself, "What am I doing today to cross something off my list?"

All too often the answer comes back as, "Nothing." I can't help but feel that I am dawdling, that I've grown complacent in my sense of time and purpose. However, looking back on my list, there are so many things that I have done within the sixteen months since first putting the list together that I never would have thought to put on the list—but in retrospect could have, had I known they were even possible.

I am reminded of Errol Morris' New York Time's column, "The Anosognosic’s Dilemma: Something’s Wrong but You’ll Never Know What It Is," which references Donald Rumsfeld's rather infamous quote from a 2002 NATO press conference, “There are known unknowns. That is to say, there are things we now know we don’t know. But there are also unknown unknowns. These are the things we do not know we don’t know.” Give Rumsfeld all the grief you will, his statement is factual, astute, and characterized by the type of self-aware honesty that too few of us hold—there are things we know, there are things that we know we don't know, and there are things that are so far outside our frame of reference that we don't even know that we don't know them.

Sixteen months ago, I was a writer who also had an extensive history as a patient. I knew I had some knowledge to share. I knew I wanted to help others navigate the patient experience. I didn't know what an ePatient was, let alone that I was one. I didn't know that there was an entire world of social media dedicated to healthcare. I didn't know that my ideas, my opinions, my words would take me 5,596.5 miles from Palo Alto to Paris, to HealthCamp DC the Kaiser Permanente Center for Total Health in Washington, D.C., to Kansas City, M.O. and Cerner's riverside educational facility for Regina Holliday's Partnership With Patients Summit. I didn't know I would find others who care deeply about talking about advance planning and facing our fears of death with a whole heart and an open heart. I didn't know I would meet people who would be more than mentors—but friends. I didn't know that what would be the most significant part of my life's work had yet to reveal itself.

In retrospect, my bucket list thereby seems naive. What should I make of the fact that I have accomplished so many great things that were not on the list and yet many of things that are on the list still need to be done—while others need be removed for they are no longer something I desire? Indeed the list is of my own creation, and I am the only one to whom I am beholden. Yet I can not help but think that we can not successfully force our hearts to be linear creatures. We must balance that which we (think we) know that we want with that which we do not yet know that we want. We must live with passion and pursue happiness in a way that gives meaning to our life.

The Bucket List Redux

1. Pet a tiger

2. Get more than a magazine article published — preferably a book

3. Write a book

4. Take Travis to London

5. Go horseback riding in Big Sky country

6. Visit Scandinavia — horseback ride through Sweden and Copenhagen, Denmark

7. Visit Athens, Greece

8. Have a ROCKIN’ wedding anniversary/recommitment — 2013

9. Learn to Latin dance — and do it well

10. Learn how to make really awesome Asian dumplings

11. Eat fresh lobster in Maine

12. Effectively tell someone off/stand up for someone in public and in the moment

13. Drive the entire length of the Blue Ridge Parkway

14. Snorkel at Stingray City in Grand Caymans

15. Cruise in and explore the Caribbean — 2013

16. Go to the National Cherry Festival in Traverse City, Michigan (July)

17. Go to Whiting, Indiana’s Pierogi Festival (July) — 2013

18. Have an extreme spa day – 2+ hour massage, mani, pedi, facial, body scrub

19. Pay for something random for a random deserving person

20. Learn to play the hammered dulcimer

21. Wear an expensive beaded dress for a fancy dinner date and evening out

22. Raise awareness of whatever disease I am finally diagnosed with — DONE/DOING

23. Participate in research to help with the diagnosis of my disease — DONE/DOING

24. Help teach other patients to be proactive and involved in their healthcare — DONE/DOING

25. Ensure our financial security by living debt-free and investing well

26. Finish my master’s degree at UNC-Greensboro — DONE

27. STRICKEN FROM LIST

28. Be the subject of/inspiration for a piece of artwork — DONE

29. Landscape the backyard to be more of a place for ourselves and guests to enjoy

30. See the Grand Canyon — DONE

31. Develop a running list of National Parks visited and continue to add to that list including Yosemite, Yellowstone, Bryce Canyon, Zion, Arches

32. See Beck in concert

... more to come!

A Book From a Bucket

When one makes a bucket list does he or she put the items on that list in the proverbial bucket once they have been accomplished or take them out? Does the list exist purely independently of the bucket? Or is the list written on the bucket, each item diligently crossed out with a stringent smelling, black permanent marker, and that bucket, once satisfactorily blackened, then kicked into the afterlife oblivion?

I first began writing my bucket list in June following yet another round of surgery. My stomach had ruptured seemingly on its own, which caused the doctors to be concerned that the event was the latest symptom in my troubled vascular history. I decided it was time to meet with a doctor who specializes in the disease it seems most likely that I have but have not yet been officially diagnosed with — fibromuscular dysplasia. My appointment is on Aug. 3.

Since writing the first 30-item bucket list, I have added six more tasks to accomplish; however, I admit that four of those six items were put the list simply so that I could say that I've already done them: Make my parents proud; Be in love and loved by a man who brings out the best in me; Be passionate about something and share that joy with someone else; Be true to myself. And while I am no closer to doing the number one thing on my list — pet a tiger — I have made a decision to bring me closer to items number two - get more than a magazine article published, preferably a book - and three - write a book.

By January 2012 I will have accomplished item 26 on the list — finish my master's degree — which will free up some time to do other things. With this time, and an official diagnosis, I feel that it will be the time begin work on a book. Doing so will in turn help knock out items 22 — raise awareness of whatever disease I am finally diagnosed with (all signs point to Intimal Fibromuscular Dysplasia), 23 - participate in research to help with the diagnosis of my disease, and 24 - help teach other patients how to be good patients who are proactive and involved in their healthcare. Consequently, I have begun a search for subjects to interview.

I am seeking:

Doctors or nurses willing to go on record about their experiences with patient care.

People who have been patients within a hospital setting or been seen by several doctors for one condition and are willing to go on record about their experiences.

People who have been patients within a hospital setting or been seen by several doctors for one condition and are willing to go on record about their experiences - AND - can get their doctors to talk about their case.

If you or someone you know fits into one of these categories, please contact me. Not all those who respond will be interviewed and not all of those interviewed will be included. My focus is narrow, though my hope abounds.

The Bucket List

Next month I will turn 31. My hope is for the gift of a diagnosis.

Upon experiencing a stomach rupture from unclear causes on April 24, I was jolted out of the comfortable lull into which my family and myself had settled in terms of my health. Things had been quiet, perhaps too much so, and it is patently easy for one to forget the seriousness of one's medical condition when not actively in crisis. I myself have near daily reminders be they the fact that I am still (and for all appearances always will be) deprived of the sensations of pain and temperature on my right side; the nystagmus in my left eye that affects my vision and often leads me to close it so that I may better focus; the tremendous bypass scar across my mid-section that traces my ribcage; the adjacent scar from my kidney removal; the random aches and pains and twinges and generalized weakness that begin each day; and now the 11-inch scar that splits my abdomen, curving around the right side of my belly button, which is new enough to still itch and pull each time I stand up. Please note that I do not view these statements as complaints. These are simply statements of fact. They are characterizations of my body, which increasingly seems to have a life of its own independent of my soul. My body does what it wants to, regardless of my intentions for it. It and I have spoken repeatedly about the matter, and while I believe its heart is in the right place (the doctors at least have never given us any reasons to doubt that), it just never can seem to get – and keep — its act together.

The rundown is as follows:

gallbladder removed - 1995
double jaw relocation due to TMJ - 1997
depression and anxiety diagnosis - 1998
unexplained high blood pressure begins - 2001
renal artery stenosis and celiac and mesenteric artery occlusion found - 2004
triple bypass for renal, celiac, and meseneric arteries performed - 2005
hardware from jaw relocation surgery removed due to infection - 2007
transient ischemic attack/stroke - 2008
bypass fails - 2008
left kidney removed due to loss of blood flow and subsequent failure - 2009
discovery of and coiling of three of four brain aneurysms - 2009
stomach rupture (unknown cause) with emergency exploratory surgery - 2011

* list discludes additional diagnostic procedures including CT, MRA/MRI, arteriograms, renin sampling, renal duplex sonograms, barium swallow, endoscopy, and buckets of blood taken for testing

Despite this rather extensive medical history and care from highly-qualified doctors, I have remained undiagnosed. There were theories. One from 2005 pointed to Takayatsu's Arteritis, an autoimmune type, progressive, and incurable vascular disease. Pathological examination of a sample of my artery taken during bypass surgery negated this theory, as no signs of inflammation — a hallmark of the disease - were found. As the years progressed the best we could get was "something like fibromuscular dysplasia." In short, the disease was first discovered in 1938; however, not much has been learned about it since. It is a vascular disease that most commonly affects the renal arteries, and in its primary form, the affected artery is characterized by a string of beads appearance. The result is a reduction in blood flow that, depending on severity, can result in organ failure. The second most common artery affected is the carotid artery, which supplies the brain with blood. No one knows what causes fibromuscular dysplasia (FMD for short). There is no cure, and there is no specific treatment — rather there is management of symptoms, which tend to occur seemingly randomly and include high blood pressure, kidney failure, ringing and/or swooshing in the ears, vertigo, headache, transient ischemic attack, stroke, Horner's syndrome, neck pain, and artery dissection. I have had ten of those eleven symptoms. The eleventh, the artery dissection, is missing only because we do not know exactly what caused my stroke. However, my arteries do not have FMD's signature string of beads appearance, which means that if I do have FMD, it is a rare version of it. The likelihood is that it is the intimal FMD variety. Intimal FMD is characterized by a long, smooth narrowing of the artery.

While in for a routine checkup at Bowman-Gray/Baptist Hospital in Winston-Salem, I discussed with my doctor my recent stomach rupture and how we were unsure of its cause. I brought up that I had been looking into FMD again, how it seemed like such a fit for my case, and how the Cleveland Clinic had a specialized FMD team. The team is one of five in the nation focusing on the disease. My doctor fully endorsed the idea, saying that if I hadn't wanted to pursue treatment there, that she would have wanted to start more testing at Bowman-Gray to see what else we could find out given the stomach rupture. With her blessing (and referral), I have requested an appointment at the Cleveland Clinic and am waiting to hear from schedulers as to when I can be seen. As an added bonus, my doctor at Bowman-Gray sent me home with a stack of medical records and surgical narratives to have on hand. I am a person who functions much better when I have detailed information no matter what the situation, and to be given in-depth information to read about myself was a thrill. I pored over the records and absorbed as much as I could, of course having to look up several medical terms. Two phrases of particular interest were rather amusing in their honesty: "findings are considered not specifically diagnostic" and "difficult to explain." That's the thing about FMD. It is hard to diagnose and it is difficult to explain since doctors know so little. By going to the Cleveland Clinic, I will be in the care of the few doctors who know the most of what there is to know about FMD and will finally feel like less of a medical and more of a diagnosed patient who can possibly serve as a research link to help discover more about the disease. The research these doctors are doing is in my Bowman-Gray doctor's own words "cutting-edge." It is an incredibly exciting time in life as a patient.

However, what you may have already read between the lines is that the effects of FMD can be quite serious. FMD in and of itself will not lead to death, though strokes, artery dissection, and organ failure very well can. The median age for FMD patients was last reported at 50. A median is not an average. It is a middle number, and well, it's the middle number between 0 and 100. I could live to be annoyingly old — or not. Such diseases often prompt a lot of dwelling on the "or not" part of living. The simple fact of that matter, which is also something we tend to forget, is that any one of us has the opportunity to become "or not" at every moment of every day. We could slip in the shower. We could be in a car accident. We could have a heart attack. We could be mauled by a wild animal. We could choke on a pretzel. We are very fragile creatures overall. I have long had a pragmatic view of my condition and have tried my best to continue on with my adventures passionately and fearlessly — after the stroke caused me to lose my job, I used my new found free time to enroll in graduate school, which was a challenge for my brain and my body but fed my soul. My studies have ensured that I will never stop learning and allowed me to fulfill a life-long dream of becoming an English teacher. My students fill my heart with joy. I also have reached the point in my writing career that I have risen to be managing editor for a nationally published magazine, a job that allows me to exercise my creative, people, and business skills and gives me a tangible product to show for my efforts. On a more personal level, I am married to a wonderful, patient, stoic man with whom I will celebrate my fifth anniversary in October. We have carved out a life of loving family members, furry four-legged children, a cozy home, and a unfailing dedication to one another.

As of yet, I have no regrets... and I want to keep it that way, which is why, at my husband's urging, I have begun work on a bucket list. My goal is to identify 100 things that I truly want to do before joining the "or nots," whenever that may be. Some of the items on the list are for myself and my husband or other family members. Some of the items are purely for myself. Some items may be placed on the list solely so that I may cross them off as there are things I have already accomplished that are worth recognizing such as having made my parents proud, lived on my own, changed a flat tire by myself, and stood up for myself. The point is that the list is a work in progress, much like myself.

1. Pet a tiger

2. Get more than a magazine article published — preferably a book

3. Write a book

4. Take Travis to London

5. Go horseback riding in Big Sky country.

6. Visit Scandinavia — horseback ride through Sweden and Copenhagen, Denmark

7. Visit Athens, Greece

8. Have a ROCKIN’ wedding anniversary/recommitment

9. Learn to Latin dance — and do it well

10. Learn how to make really awesome Asian dumplings

11. Eat fresh lobster in Maine

12. Effectively tell someone off/stand up for someone in public and in the moment

13. Drive the entire length of the Blue Ridge Parkway

14. Snorkel at Stingray City in Grand Caymans

15. Cruise in and explore the Caribbean

16. Go to the National Cherry Festival in Traverse City, Michigan (July)

17. Go to Whiting, Indiana’s Pierogi Festival (July)

18. Have an extreme spa day – 2+ hour massage, mani, pedi, facial, body scrub

19. Pay for something random for a random deserving person

20. Learn to play the hammered dulcimer

21. Wear an expensive beaded dress for a fancy dinner date and evening out

22. Raise awareness of whatever disease I am finally diagnosed with

23. Participate in research to help with the diagnosis of my disease

24. Help teach other patients to be proactive and involved in their healthcare

25. Ensure our financial security by living debt-free and investing well

26. Finish my master’s degree at UNC-Greensboro

27. Earn the certificate in Multicultural and Transnational Literatures and
the certificate in Teaching English to Speakers of Other Languages from East Carolina University

28. Be the subject of/inspiration for a piece of artwork

29. Landscape the backyard to be more of a place for ourselves and guests to enjoy

30. See the Grand Canyon and stay at Cliff Dwellers Lodge in Lees Ferry – fly fish, ride a donkey into the canyon, stargaze