Outliving My Mom

This photo is about 30 years old. It’s one of the last ones I have with both of us before her cancer diagnosis. In older photos she wore those awful turbans to cover her nearly bald head.

My mother was diagnosed with myotonic dystrophy (DM) circa 1990 before there was a DNA test available. When my parents told me of this diagnosis they never mentioned it was a genetic condition nor that it was serious. All I knew was that she appeared before medical students at the University of Miami School of Medicine so they could see that one leg calf had less muscle tone than the other. She had more severe health situations than thin calf muscles and had been repeatedly hospitalized.

In 1990 there was minimal information available about DM. As it turned out, so many of her health issues (gallbladder and GI problems, early cataracts, daily fatigue, respiratory problems, etc.) were related to the disorder. In the last few years there have been scientific studies looking at DM and cancer which suggest that people with DM are twice as likely to have certain cancers. My mother smoked her entire adult life, was often depressed, and drank alcohol daily — creating a fertile environment for the lung and brain cancer which caused her death.

We have also learned through scientific research that myotonic dystrophy, in addition to being passed on with 50% probability for each offspring, has a component called anticipation. Essentially this means that the severity of the condition increases with each generation and often with each birth. My parents had another daughter nearly two years after I was born but she lived only three days. Now I know this child had the more severe congenital form of DM.

So tomorrow I turn 56 years old; my mother died 6 weeks before her 56th birthday.

Searching the Internet, shortly after I was diagnosed in the late ’90s, I discovered a table with data showing the average life span for adult-onset DM being between 48-55. My mother fit that data set.

So tomorrow is bittersweet. I like to think that all of my self-care and positive attitude has pivoted me beyond the dire expectations. Yet these past few months have proven to be physically and emotionally challenging. My respiratory issues, and subsequent sleep study, show that I need breathing assistance at night. My energy has a marked decline and I worry that I won’t be able to recapture it.

Birthdays can be difficult for anyone after a certain age but perhaps more so when you have this anticipated early decline…each year represents more loss to come. I’ll be celebrating with a few friends at a karaoke bar and hopefully that will kick my butt into a more glass half full perspective.


Rare Disease and the Need for Research

February 28th is Rare Disease Day. This year’s theme is: Research. How can we support research efforts for our rare disease? We can donate to our patient advocacy organizations that

spearhead research efforts. And we, as rare disease patients, can participate in research studies and clinical trials.

This podcast episode features three individuals. Amy Lynn Ream and Dean Sage both participated in phase 1 clinical trials for a potential treatment for myotonic dystrophy. Hugo Trevino, who has spinal muscle atrophy (SMA), is in his third week of Spinraza infusions and already feeling positive effects.

Hugo recommends for all those with a rare disease, check out this link to see if you’re eligible to participate in any research studies.

If you care for someone with a neuromuscular disease — like myotonic dystrophy, SMA, or the 40+ other rare neuromuscular diseases — please donate to the Muscular Dystrophy Association.

 


Sickness & Grief: Lessons Learned

In the final stretch of fighting the FLU, I decided to explore why my immunity may have been off. It’s a story, a short story, that I hope is thought-provoking for you. 

If you’re interested in learning more about building your immunity, check out this month’s featured book selection in the side bar. For more on respiratory health, make sure you listen to this podcast episode. Check out the latest news about the flu season from the CDC.

If you want a reliable companion while fighting sickness, check out Alexa and the Echo Plus. Okay, Alexa is not a reasonable substitution for a human or pet but she never once complained that I was asking her too many questions.

Not a bad companion when you’re bedridden.


Support Groups: Attend, Launch, or Facilitate

It’s all about support groups! Listen to several support group facilitators talk about their experiences attending and eventually facilitating a support group. Patient advocacy organizations represented include the Muscular Dystrophy Association, Multiple Sclerosis Foundation, and the FSH Society. Support groups organized through MeetUp cover chronic illness and life transitions.

For more information about launching a support group, check out this recent article in Quest magazine.

Feel free to comment here or on our Facebook page. If you facilitate a support group and want to be part of the conversation, contact us.


Passion: Motivation to Move through the Bad Stuff and Experience Joy

Recently I attended an annual patient conference and had a conversation which served as a catalyst for a couple of blog posts and this podcast episode. What advice do you give someone experiencing apathy and a lack of motivation? How do you cultivate a passion which can make it easier to move through the challenges of living with a chronic health condition so you can still experience joy?

There are no easy answers.

Featured in this episode are three people I know who have shared their passion with me. Mindy brings her love of dance to our myotonic dystrophy community.

 

Hazel shares her knowledge and experience with service dogs to those with multiple sclerosis as well as other chronic health conditions. And James helps his co-workers and friends experience the Totality — and other celestial happenings.

To learn more about Mihaly Csikszentmihalyi and the flow concept, here’s a TED Talk, and the books I read: Flow: The Psychology of Optimal Experience  and Creativity: Flow and the Psychology of Discovery and Invention.


Passion

At the recent Patient Advocacy Conference I attended, I spoke with a community member. We’ve previously met but I’ve talked more with his family members. He’s always seemed to be rather shy.

He asked me how I motivate myself. I’ve been asked this before. Many people with myotonic dystrophy experience both overwhelming physical fatigue as well as extreme apathy. The first time I attended the annual patient conference I participated in a panel discussion. Afterwards I had someone approach me with utter disbelief that I had the disease. Even though I appeared to be similar in age to her daughter, I appeared to function like a normal person.

The more you learn about the disease, the more you realize the diversity of symptoms and severity. I’m sure there are many additional factors the research community doesn’t take into account, i.e. my self-care routines are like a full-time job.

But getting back to this young man (age is relative and he’s ~20 years my junior) and his question. There are definitely no simple answers and no silver bullet. Some people have more of a cognitive impact from this disease while others have more physical manifestations with muscle weakness. And what about our other genetics? Maybe I have a more inherent motivation quotient than he does?

But I wanted to be helpful and I appreciated he looked to me for advice. I asked him about depression. Having a progressive chronic disease can definitely cause one to be depressed and lack motivation. I asked him what gives him pleasure and he talked about athleticism. I realized, through our brief conversation, that having a passion is integral to feeling motivated. That was what I was able to come up with…I have a passion and everyone I know who is faring well with a difficult situation also has a passion for something. You’ve got to harness that passion to get you through difficulties.

The passion may be to sing opera, sail a boat, climb a mountain, chair dance, write short stories, or empower others to lead healthier lifestyles. So, how do you find your passion?


Patient Advocacy Organization

According to Wikipedia, a patient advocacy organization is, “an area of specialization in health care concerned with advocacy for patients, survivors, and carers. The patient advocate may be an individual or an organization, often, though not always, concerned with one specific group of disorders.

I’m an active member of two patient advocacy organizations. One of them had their annual patient conference last week in San Francisco. The conference location changes each year to provide opportunities for families to attend that may not have the resources to fly across the country. It was either the 8th or 9th annual conference and I’ve attended nearly all of them. Each year the conference draws more researchers and pharmaceutical company’s involvement but, thankfully, the heart of the conference remains with the patients.

I really don’t like using the word, patients, because it doesn’t necessary define us. And we’re certainly not sufferers or victims. We have a rare, genetic disease and it nearly always impacts several family members. The annual conference is more like a family gathering.

Over the years I’ve developed friendships with many of my myotonic dystrophy carriers and their families. I can really say I know someone almost in every U.S. state with the disease. It’s fascinating to realize that many of these folks I never would have met had it not been for this disease. Some live in more rural areas of the country. Others live in big cities but lead a very different life from mine. Yet at least once each year we gather together, share knowledge, laugh, eat easy-to-chew food, and maybe clink our glass of wine or beer.

Last weekend I came home from the conference exhausted but today I remembered the wonderful feeling of being surrounded by people who each understood why I walk a certain way, why my energy waxes and wanes, as well as why I carry around small servings of soft food.


Do It for Science: End of Life Decision-Making (# 1)

 

Laboratory technician at work.

If you’d like to plan for the future and bring peace of mind to yourself and loved ones, you can engage in end of life decision-making while you’re still of sound mind and body. In this episode, Katharine Hagerman, PhD, at Stanford University talks about biobanks. If you know nothing about biobanks, give a listen and learn.

Find out more about the Stanford Neuromuscular Biobank and National Disease Research Interchange.


Stories of Healing with Essential Oils

This episode features personal stories about how the use of essential oils has helped with a variety of conditions including depression, anxiety, fibromyalgia, fatigue, post-surgical pain and post cancer treatment.

If you’re interested in deepening your exploration of essential oils, please leave me a note here.

For information about Dr. Kris Gast’s medical practice you can visit her radiation oncology website or Beauty through Health website.

To learn more about Lori Melero’s alternative care practice, visit her website.

 


Skydiving, Triathaloning, and Mountain Climbing!

Joe sky dives, Nancy runs, and Rob climbs

Three stories about people taking on physically and emotionally challenging adventures. Joe Akmakjian, who lives with Spinal Muscle Atrophy (SMA), is the first adult MDA National Ambassador. Joe celebrated his 24th birthday by jumping out of a plane with friends. Nancy, after surgery and treatment for ovarian cancer, trained for an AIDS ride and moved on to compete in triathalons. Rob Besecker decided to celebrate his recovery after a series of cardiac surgeries by climbing Mount Everest.