Menke's Syndrome: A Family View

Dane Wilson has shared a story about a family he knows from Upstate New York: “The DeFabios are a lovely family living in Ballston Spa, NY. Tina is an English teacher and Dan is a filmmaker. Their son, Lucas, was diagnosed with Menke’s Disease, a chronic and usually fatal illness that affects protein structures of many systems of the body, shortly after he was born. Since then, Dan and Tina have publicly shared their experiences raising their child, including their struggles with his mortality and their own. “You can’t change the diagnosis, but you can change the way you view it,” Dan said. “The only thing we need to do is love him,” Tina said.

Check out this article to learn more."

Photo from the Saratogan 2013

About Menke's Disease: 

Menkes disease (MD) is a rare, inherited, metabolic disorder, with an estimated incidence of 1 in 114000 - 250000 live births [8]. It is characterized by psychomotor deterioration, refractory epilepsy, thin and brittle hypopigmented hair, skin pallor, and hypothermia. There are a few variants of MD, such as a mild variant, neonatal variant, and occipital horn syndrome. Infants with classical MD are usually healthy until 2-3 months of age, when the disease starts to manifest with developmental delay, failure to thrive, intractable seizures and progressive hypotonia with a characteristic cherubic face.  Reference: Dermatology Online Journal

MD is a fascinating problem to medical scientists, but it strikes me that they tell us little about what the life of a child and that of his family is like.  The picture of the DeFabios gives a glimpse.  There is so much more to tell.

Death and Dignity — A Case of Individualized Decision Making

The following is a classic article about "assisted suicide" which appeared 24 years ago in the New England Journal of Medicine.  It is still a "keeper."

Death and Dignity — A Case of Individualized Decision Making

by Timothy E. Quill, M.D.

 N Engl J Med 1991; 324:691-694  Full Text PDF

"Diane was feeling tired and had a rash. A common scenario, though there was something subliminally worrisome that prompted me to check her blood count. Her hematocrit was 22, and the white-cell count was 4.3 with some metamyelocytes and unusual white cells. I wanted it to be viral, trying to deny what was staring me in the face. Perhaps in a repeated count it would disappear. I called Diane and told her it might be more serious than I had initially thought — that the test needed to be repeated and that if she felt worse, we might have to move quickly. When she pressed for the possibilities, I reluctantly opened the door to leukemia. Hearing the word seemed to make it exist. "Oh, shit!" she said. "Don't tell me that." Oh, shit! I thought, I wish I didn't have to."

See also:

Doctor Says He Gave Patient Drug to Help Her Commit Suicide

By Lawrence K. Altman, Special to The New York Times

Published: March 7, 1991

Rochester, March 6— In a rare disclosure, a Rochester doctor has told how he prescribed the barbiturates that a 45-year-old female patient needed to kill herself after she refused treatment for a severe form of leukemia.

Doctor-Assisted Suicide in New York

Lawsuit Seeks to Legalize Doctor-Assisted Suicide for Terminally Ill Patients in New York

by Anemona Hartocollis  Feb. 3, 2015, New Yuork Times

This is a good article that reviews the topic well.  The author makes the point that "aid in dying" is a better term than "doctor-assisted suicide."  It's worth keeping as a reference.   The work of Dr. Timothy Quill is discussed.

A group of doctors and terminally ill patients are asking New York courts to declare that doctor-assisted suicide is legal and not covered by the state’s prohibition on helping people take their own lives.

Under longtime interpretations of state law, a doctor who helps a terminally ill patient die by providing a fatal dose of medication can be prosecuted under the manslaughter statute, which covers anyone who “intentionally causes or aids another person to commit suicide.”

The plaintiffs argue that because doctors are already allowed to help terminally ill patients die in some circumstances, such as when they remove life support, the fact that they cannot hasten death for other terminally ill patients violates the equal protection clause of the State Constitution.

Assisted suicide — advocates prefer the term “aid in dying” — is legal in only a few states, including Montana, Washington, New Mexico, Oregon and Vermont.

 

Sara Myers, one of the patients, has amyotrophic lateral sclerosis, known as Lou Gehrig’s disease. She uses a wheelchair. Her arms are paralyzed, her breathing and talking are compromised, and though she can still swallow, she has to be fed.

Ms. Myers, 60, did not know precisely when she might want help dying. “The line in the sand is constantly moving,” she said in an interview. But she added, “Knowing you have a choice means you don’t have to use it.”

Grieving in the Digital Age

“The social norms for loss and the Internet are clearly still evolving. But Gen Y-ers and millennials have begun projecting their own sensibilities onto rituals and discussions surrounding death. As befits the first generation of digital natives, they are starting blogs, YouTube series and Instagram feeds about grief, loss and even the macabre, bringing the conversation about bereavement and the deceased into a very public forum, sometimes with jarring results.”  NY Times, “An Online Generation Redefines Mourning” (March 14, 2014)

Modern Loss: : Modern Loss is a place to share the unspeakably taboo, unbelievably hilarious, and unexpectedly beautiful terrain of navigating your life after a death. Beginners welcome.

This project grew out of two friends’ separate experiences with sudden loss, and their struggle to find resources that weren’t too clinical, overtly religious, patronizing or, frankly, cheesy.

[This is just the beginning of a new phenomenon - we may add more information to this post periodically]

#Grief

#R.I.P.:Grieving My Dog Offline is a moving essay in the NY Times by a Yale student, Spencer Bokat-Lindell     

When I joined Facebook in 2007, my first profile picture was a photograph of Ginny and me lying next to each other on my living room floor.

To make an R.I.P. post about Ginny was to secure her a spot in the chronicle of my life, to recognize — in words and pictures — that she mattered.

For the rest of the world, it seemed, my grief wasn’t real until it could be screenshot.

Spencer's beautifully written pense gives insight into the mindset of some digital natives and opens up many, many avenues for thought. For me, at least, it was not to be skimmed.

Live, From the Nursing Home!

“Donald Hall, 86, a former poet laureate, probably captured the general mood when he wrote that nursing homes are “old-folks storage bins” and “for-profit-making expiration dormitories.” He wants to die in his farmhouse in New Hampshire.

But I think that sounds pretty lonely. I wouldn’t mind going into a nursing home and not coming out. In due time, thank you. I’m 64.”

Bert Stratton’s fine Op-Ed piece in the February 2, NY Times, “Live, From the Nursing Home” presents the flip-side of nursing homes.  Stratton is a member of a Klezmer group, the Yiddishe Cup, that entertains in nursing homes and other venues.

Stratton and his group at a nursing home

Caveat Mortalis

Let the die-er beware!

Professor Susan Dunn alerted us to an important article in the NY Times.

Ira Byock, one of the most influential hospice physicians in the country, has a thought-provoking Op-Ed piece in the January 31, 2015 issue of the NY Times. See:  “Dying Shouldn’t Be So Brutal.” Here are some excerpts:

… modern medicine has yet to make even one person immortal. Therefore, at some point, more treatment does not equal better care.

Our health care system is well honed to fight disease, but poorly designed to meet the basic safety needs of seriously ill patients and their families. We can do both. We must.

People who are approaching the end of life deserve the security of confident, skillful attention to their physical comfort, emotional well-being and sense of personal dignity. Their families deserve respect, communication and support. Exemplary health systems and healthy communities deliver all of this today. But they are few and far between.

Those of us who have been on a quest to transform care have been standing on a two-legged stool. We’ve demonstrated higher quality and lower costs. Missing is the visible, vocal citizen-consumer demand. Without it, large-scale change will not happen.

Hospice has become an industry with over 4,000 programs nationally, and the quality of care has become uneven. Still invaluable, hospice is no panacea.

It is time to write a Safe Dying Act.