Skip to content
  • About
  • Contact
  • Contribute
  • Book
  • Careers
  • Podcast
  • Recommended
  • Speaking
  • All
  • Physician
  • Practice
  • Policy
  • Finance
  • Conditions
  • .edu
  • Patient
  • Meds
  • Tech
  • Social
  • Video
    • All
    • Physician
    • Practice
    • Policy
    • Finance
    • Conditions
    • .edu
    • Patient
    • Meds
    • Tech
    • Social
    • Video
    • About
    • Contact
    • Contribute
    • Book
    • Careers
    • Podcast
    • Recommended
    • Speaking

A couple’s journey with a rare neurodegenerative disorder

Bruce Rosky
Conditions
January 17, 2023
Share
Tweet
Share

It was in 2012 that I started to realize that my wife Jennifer’s memory lapses were a significant sign to be taken seriously. That insight set us on a four-year journey, during which we engaged four neurologists in our quest for an answer. At last, Dr. Brent Fogel at the David Geffen School of Medicine at UCLA diagnosed Jennifer with adult polyglucosan body disease (APBD), an ultra-rare, neurodegenerative disorder characterized by a deficiency of glycogen branching enzyme, resulting in the accumulation of polyglucosan bodies in muscles, nerves, and various other tissues. The polyglucosan bodies are particularly toxic to neurons, causing progressive central and peripheral nervous system degeneration. This manifests as trouble urinating (neurogenic bladder), stiff and weak legs that impair walking, numbness in the legs, fatigue, and in some cases, cognitive decline.

Hearing this diagnosis felt like a punch in the stomach, especially when Dr. Fogel added, “There is no cure.” This did not fit with the vision Jennifer and I had for our future years together. We were in the prime of our lives, embracing our careers, raising our children, and living an active lifestyle.

At the moment we received the diagnosis, I went into problem-solving mode. To this day, I still look for solutions and think I can solve the problem. At first, the issues were easily managed, but as time passed, the challenges have become greater. We’ve gone from incontinence pads to catheters, walkers to wheelchairs. Each month, new symptoms arise. Now, Jennifer’s temperature is unstable, as is her gastrointestinal system. I hope I can always help my partner with whatever she needs.

About two years ago, earlier than I expected, I retired from my work as an administrator in higher education so I could be more present with Jennifer and also take care of household needs. I spend my time making adjustments around our home to support my wife’s diminishing mobility and cognition, keeping her comfortable, entertained, healthy, and safe, and solving the issues that arise as her symptoms evolve and progress.

My caregiving role has two sides: “The What-Can-I-Do,” or the thinking part, and the “How-Are-We-Feeling,” or the emotional part. Both are equally important. When we’re together, I try not just to do something to get it done, but to be in the moment and aware of where we are and to be mindful, even if it is as simple as just holding Jennifer’s hand. I meet Jennifer where she is on each day. Our clinicians provided no social service resources, so I find support for both sides of caregiving from the APBD Research Foundation’s monthly Caregiver and Family Chats, where I connect with other caregivers. There is not a lot of information one can find anywhere else on APBD. Being a part of this Chat program helps me stay mindful and in the moment.

Jennifer and I maintain a strong partnership. I often refer to APBD as “our illness,” and I refer to my wife as my hero because of her strength through all she has endured and continues to endure. However frustrated she may be, she is very accepting and figures out how to get through it.

When new challenges arise, I meet them with creativity. For example, when our grandson was born in 2021, I helped Jennifer to remember his name by posting pictures of the baby all over the room.

It was only recently, in the last year or so, that I have looked at the long-term, at the trajectory of what APBD is. I am learning that we can only live each day as it comes. I meet Jennifer where she is on each day.

Jennifer and I have enjoyed many years of love and togetherness. I honor our partnership by “living in the now” and appreciating the little things when I care for my wife’s struggles with APBD. I remind Jennifer often, “You are as strong as you are today; and today, this is where we are.”

Bruce Rosky is a patient advocate.

Prev

The importance of a clear contract with your defense counsel in medical malpractice cases

January 17, 2023 Kevin 0
…
Next

Saying goodbye: the tragic impact of COVID-19 on families

January 17, 2023 Kevin 0
…

Tagged as: Neurology

Post navigation

< Previous Post
The importance of a clear contract with your defense counsel in medical malpractice cases
Next Post >
Saying goodbye: the tragic impact of COVID-19 on families

ADVERTISEMENT

ADVERTISEMENT

ADVERTISEMENT

Related Posts

  • My healer, please guide me on this journey

    Michele Luckenbaugh
  • A young mother’s medical school journey

    Choryon Park
  • Cutting the red tape with buprenorphine treatment for opioid use disorder

    Christina Kinnevey, MD
  • The pandemic’s epidemic: opioid use disorder and subpar suboxone access   

    Jonathan Staloff, MD and Claire Simon, MD
  • A patient’s frustrating prior authorization journey

    Leslie G. Bank, PT
  • From physician to holistic healer: my journey on Clubhouse

    Holly MacKenna, MD

More in Conditions

  • Why gambling addiction is America’s next health crisis

    Safina Adatia, MD
  • How robotics are reshaping the future of vascular procedures

    David Fischel
  • How the shingles vaccine could help prevent dementia

    Marc Arginteanu, MD
  • Why removing fluoride from water is a public health disaster

    Steven J. Katz, DDS
  • What the research really says about infrared saunas

    Khushali Jhaveri, MD
  • How the cycle of rage is affecting physicians—and how to break free

    Alexandra M.P. Brito, MD and Jennifer L. Hartwell, MD
  • Most Popular

  • Past Week

    • Why removing fluoride from water is a public health disaster

      Steven J. Katz, DDS | Conditions
    • When did we start treating our lives like trauma?

      Maureen Gibbons, MD | Physician
    • When the diagnosis is personal: What my mother’s Alzheimer’s taught me about healing

      Pearl Jones, MD | Conditions
    • 2 hours to decide my future: How the SOAP residency match traps future doctors

      Nicolette V. S. Sewall, MD, MPH | Education
    • Why physician voices matter in the fight against anti-LGBTQ+ legislation [PODCAST]

      The Podcast by KevinMD | Podcast
    • Why being a physician mom is harder than anyone admits

      Cynthia Chen-Joea, DO, MPH | Physician
  • Past 6 Months

    • Why tracking cognitive load could save doctors and patients

      Hiba Fatima Hamid | Education
    • What the world must learn from the life and death of Hind Rajab

      Saba Qaiser, RN | Conditions
    • The silent toll of ICE raids on U.S. patient care

      Carlin Lockwood | Policy
    • Bureaucracy over care: How the U.S. health care system lost its way

      Kayvan Haddadan, MD | Physician
    • Why we fear being forgotten more than death itself

      Patrick Hudson, MD | Physician
    • Why recovery after illness demands dignity, not suspicion

      Trisza Leann Ray, DO | Physician
  • Recent Posts

    • Why physician voices matter in the fight against anti-LGBTQ+ legislation [PODCAST]

      The Podcast by KevinMD | Podcast
    • The man in seat 11A survived, but why don’t our patients?

      Dr. Vivek Podder | Physician
    • Why gambling addiction is America’s next health crisis

      Safina Adatia, MD | Conditions
    • When did we start treating our lives like trauma?

      Maureen Gibbons, MD | Physician
    • How robotics are reshaping the future of vascular procedures

      David Fischel | Conditions
    • Medicalizing burnout misses the real problem

      Jessie Mahoney, MD | Physician

Subscribe to KevinMD and never miss a story!

Get free updates delivered free to your inbox.


Find jobs at
Careers by KevinMD.com

Search thousands of physician, PA, NP, and CRNA jobs now.

Learn more

Leave a Comment

Founded in 2004 by Kevin Pho, MD, KevinMD.com is the web’s leading platform where physicians, advanced practitioners, nurses, medical students, and patients share their insight and tell their stories.

Social

  • Like on Facebook
  • Follow on Twitter
  • Connect on Linkedin
  • Subscribe on Youtube
  • Instagram

ADVERTISEMENT

ADVERTISEMENT

ADVERTISEMENT

ADVERTISEMENT

  • Most Popular

  • Past Week

    • Why removing fluoride from water is a public health disaster

      Steven J. Katz, DDS | Conditions
    • When did we start treating our lives like trauma?

      Maureen Gibbons, MD | Physician
    • When the diagnosis is personal: What my mother’s Alzheimer’s taught me about healing

      Pearl Jones, MD | Conditions
    • 2 hours to decide my future: How the SOAP residency match traps future doctors

      Nicolette V. S. Sewall, MD, MPH | Education
    • Why physician voices matter in the fight against anti-LGBTQ+ legislation [PODCAST]

      The Podcast by KevinMD | Podcast
    • Why being a physician mom is harder than anyone admits

      Cynthia Chen-Joea, DO, MPH | Physician
  • Past 6 Months

    • Why tracking cognitive load could save doctors and patients

      Hiba Fatima Hamid | Education
    • What the world must learn from the life and death of Hind Rajab

      Saba Qaiser, RN | Conditions
    • The silent toll of ICE raids on U.S. patient care

      Carlin Lockwood | Policy
    • Bureaucracy over care: How the U.S. health care system lost its way

      Kayvan Haddadan, MD | Physician
    • Why we fear being forgotten more than death itself

      Patrick Hudson, MD | Physician
    • Why recovery after illness demands dignity, not suspicion

      Trisza Leann Ray, DO | Physician
  • Recent Posts

    • Why physician voices matter in the fight against anti-LGBTQ+ legislation [PODCAST]

      The Podcast by KevinMD | Podcast
    • The man in seat 11A survived, but why don’t our patients?

      Dr. Vivek Podder | Physician
    • Why gambling addiction is America’s next health crisis

      Safina Adatia, MD | Conditions
    • When did we start treating our lives like trauma?

      Maureen Gibbons, MD | Physician
    • How robotics are reshaping the future of vascular procedures

      David Fischel | Conditions
    • Medicalizing burnout misses the real problem

      Jessie Mahoney, MD | Physician

MedPage Today Professional

An Everyday Health Property Medpage Today
  • Terms of Use | Disclaimer
  • Privacy Policy
  • DMCA Policy
All Content © KevinMD, LLC
Site by Outthink Group

Leave a Comment

Comments are moderated before they are published. Please read the comment policy.

Loading Comments...