Cracking the Code: Discovering Rare Diseases

07/27/23 • 31 min

Conversations of the Heart: Prescriptions for Healing

Millions of people are affected by uncommon, unknown or undiagnosed diseases.
Some appear at birth, others emerge in adulthood. Many are genetic in origin and there is often scant information in the medical literature about them. It can take years to get an accurate diagnosis, which is too late for many patients. There are also few effective treatments much less cures for these diseases.
In this episode, we will meet a woman whose family has been dogged by a mysterious disease for generations, what it took to crack its genetic code and the search for a cure.
Guests: Lisa Miller and Mary Miller Kenney
Dr. Ernesto Ayala, a hematologist and oncologist in the Department of Internal Medicine at Mayo Clinic in Jacksonville, Florida. He specializes in stem cell transplantation.
Kerry Hughes, executive director of Harmony4Hope.
For more information on the great educational and advocacy work on rare diseases: https://harmony4hope.org/
For more information on the groundbreaking work bring on genomic medicine: https://www.mayo.edu/research/centers-programs/center-individualized-medicine
For more information on adult-onset leukoencephalopathy: https://sistershopefoundation.org/

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Previous Episode

Caring and Compassion: Humanizing Medicine

Hospitals have Grand Rounds where residents and medical students present a patient’s case to senior physicians. It’s an important part of medical education.
Now consider how such a gathering might be different if the case was
presented and analyzed not from a medical point of view...but through the
lens of human emotion.
There is such a thing and it’s called Schwartz Rounds.
Our guests: Dr. Beth Lown, Medical Director for the Schwartz Center for Compassionate Healthcare, Boston, MA.
Beba Tata-Mbeng, Manager of Spiritual Care, Mayo Clinic Jacksonville, FL
For more information: https://www.theschwartzcenter.org/

Next Episode

After the Fall: Hope and Healing

Concussions can happen to anyone at anytime and anywhere.
A traumatic brain injury or TBI can be mild to severe. Its effects can be overwhelming and life altering.
In this episode, we will meet a woman in her 70’s whose life turned upside down after a bad fall down a staircase and the medical team who helped her regain her footing.
Guests: Bonnie and Darrell Hutson
Dr. Kelly Collins, physiatrist specializing in rehabilitation medicine with CentraCare/St. Cloud Hospital, St. Cloud, Minnesota.
Tracy Welsh, occupational therapist, CentraCare/St Cloud Hospital
Katie Madsen, speech therapist, CentraCare/St Cloud Hospital
For more information on brain injury: https://www.cdc.gov/traumaticbraininjury/index.html
For more information on CentraCare’s in-hospital rehab unit: https://vs.centracare.com/app/files/public/64489a98-0017-4727-8f50-2e4638f20249/inpatient_rehab_brochure.pdf