Rare diagnosis: East Naples woman, 58, declines rapidly from Creutzfeldt-Jakob disease

www.facebook.com/cbryant3

www.gofundme.com and type in Stephanie Brown-Bryant for her link.

— Charlie Bryant could tell something was strange back home in Naples.

He was told his mother, Stephanie Brown-Bryant, who recently had turned 58, wasn't keeping his childhood home immaculate any more.

He learned she wasn't in daily contact with his older sister, Ashleigh, who still lives in Naples, or with her own mother who lives around the corner in the Kings Lake community.

"For Mother's Day, I purchased a ticket for her to visit me," Bryant, 24, said.

He was living in Providence, R.I., working in restaurant management, after graduating the year before from Johnson & Wales University.

"She had a blank stare on her face," he said. "She looked like she had aged 25 years since I had seen her in December. That ride home I was blown away."

Little did Bryant know how rapidly his life would spiral into a quest for answers from medical professionals that proved as puzzling as the diagnosis he ultimately received.

A rare and fatal brain disorder, affecting one of every million people worldwide annually.

200 cases in the U.S annually.

CJD cannot be transmitted through the air or casual contact. Some animal studies indicate that contaminated blood may transmit the disease but that hasn’t been shown in humans.

He was told his mother has Creutzfeldt-Jakob disease, CJD, a rare degenerative brain disorder that in all likelihood will end her life in a matter of weeks or months.

That is unimaginable in itself, but her rapid decline from one week to the next is beyond comprehension.

Once a vibrant woman with glistening dark hair that hung down the length of her back, she can no longer speak or walk. She can't bathe herself, let alone brush her hair.

Bryant moved back to Naples to be his mother's caretaker.

He has learned about the shortcomings of the health-care system for a middle-aged woman who is uninsured but how benevolence exists elsewhere.

"He's doing remarkably," said Jacque Luciani, a friend of his mother's who comes to the home often to help. "He's doing things he never expected to do. I don't think anyone is expected to do that for a parent."

He puts on a good face but admits he doesn't always have it together.

"I have my moments when no one is around," he said. "It's stressful."

* * * * *

When his mother first arrived in Providence, Bryant thought she had suffered a stroke. She mixed up his place for her Naples home. She thought she had gone outside for exercise when she hadn't.

He couldn't convince her to see a doctor. When he got her to an emergency room, she talked him into leaving after a five-hour wait before being seen. She returned to the hospital just before Memorial Day weekend.

She had an MRI, a CAT scan and an electroencephalogram, EEG, to record her brain's electrical pattern. She was admitted and doctors did memory tests.

Three major categories. "Sporadic" for no known risk factors; "hereditary" through genetic factors and "acquired" through medical procedures and surgical instruments.

Sporadic CJD accounts for 85 percent of cases. It is believed to occur when normal prion proteins spontaneously transform into abnormal prions and change prions in other cells, clump together and may lead to neuron loss and other brain damage.

Hereditary CJD accounts for 5 percent to 10 percent of cases. It is believed to occur when a mutation occurs in the gene that controls the formation of the normal prion protein. If the prion protein gene is altered in a person’s sperm or egg cells, the mutation can be transmitted to offspring and will be inherited as dominant traits. Several mutations of the prion protein gene have been identified.

Acquired CJD accounts for less than 1 percent of cases. It can occur with transplanted corneas, neurosurgical equipment before routine sterilization standards were developed, and from contaminated human growth hormone prior to 1985.

* * * * *

The appearance of a new form, variant CJD, was identified in Great Britain and France, linked to eating contaminated beef, referred to as the human form of "mad cow" disease.

No cases of variant CJD in the U.S.

When doctors told Bryant they believed she has CJD, he had nothing to go on.

"I was Googling it," he said.

They tested for a certain protein in her brain linked to CJD but said the results would take six to eight weeks. The doctors also said they could do no more. She was discharged to his care. He was overwhelmed.

"They said there was no treatment, no medicine. I like freaked out," he said.

Bryant figured they would stay in Providence but soon realized that wouldn't work.

"Meals took two hours; she ate slowly," he said. "It was around-the-clock for me and she got up and walked around the house in the middle of the night. It was crazy."

In mid-June, the hospital called that his mother had tested positive for a protein tied to CJD. He booked a ticket to Naples.

* * * * *CJD affects about one in every million people annually worldwide, with about 200 cases each year in the United States, according to the National Institutes of Neurological Disorders and Strokes.

There are three major categories of the disease; "sporadic" which accounts for 85 percent of cases and no known risk factors, "hereditary" which involves a family history; and "acquired," where exposure is tied to contaminated surgical instruments or certain medical procedures.

In addition, there's variant CJD that is linked to eating contaminated beef. That gave rise to 175 cases in humans in the United Kingdom and 49 additional human cases elsewhere by the late 1990s, according to the World Health Organization.

That's the human form of "mad cow" disease but the CJD foundation and medical professionals avoid calling it that, said Florence Kranitz, the foundation's president.

There have been no cases of variant CJD in humans in the United States which have originated in the U.S., she said.

In Florida, there's been about 16 deaths from CJD a year, none the variant form, and that's in keeping with the trend of one case per 1 million population, according to the Florida Department of Health.

One case was reported in Collier County last year; the first since 2007 when there was another case, said Deb Millsap, spokeswoman for the local health department.

"One or two cases does not raise red flags because some could be genetic and that is restricted to the family," Kranitz said.

For certain, the disease is horrific; she experienced it firsthand when her husband died 12 years ago from CJD, two months after diagnosis.

"That's not unusual," she said.

Sometimes a diagnosis doesn't happen until a few weeks before a loved one dies.

Everyone has difficulties getting the proper diagnosis, Kranitz said, and confirmation is only after death when brain tissue is examined.

"Neurologists, they don't see it (in their practices) and may have spent 10 minutes studying it in medical school and many don't recognize it," Kranitz said.

"I think sometimes families are completely thrown; it's like being hit by a freight train," Kranitz said. "Families have so little quality time left. We encourage them to just take care of their loved one."

* * * * *

Once he and his mother were back in Naples, Bryant was advised to call Avow Hospice.

Home-health aides from Avow come in five days a week to help with his mother's daily living needs. She gets music therapy and massages.

"One month to three months, there's no clue how long she's had it," he said. "I beat myself up if I'm down enough."

Symptom onset of CJD is typically at age 60. Death typically in a year. Symptoms include problems with muscular coordination; personality changes; impaired memory, judgment and thinking; and impaired vision. It progresses to severe mental impairment, often leads to blindness and inability to move and speak.

His sister, Ashleigh, 27, helps and so does his 89-year-old grandmother, Irene Brown. His parents were divorced but his father, a retired U.S. Air Force veteran, still lives in Naples and comes by.

Home Depot recently replaced the broken air-conditioning system and City Mattress delivered a new mattress for his mother.

She's not in pain but hospice staff suggested symptom management medication. He said ''no.''

"I know she doesn't want it," he said. "She knows my presence. She is comfortable. She doesn't express pain. She shakes her head 'no.'"

Neighbors consistently bring in homemade or take-out food. Bryant struggles sometimes to remember all their names.

"We have no less than 50 people through these doors every day," he said.

He is grateful for the outpouring, from his university and from all who know his family.

"I'm the Facebook generation networking," he said.

Bryant is preparing for a celebration of her life, making several hundred tie-dyed T-shirts, in bright colors, for a beach sunset memorial to her life.

"She was a hippie, a free spirit," he said. "She drove a Corvette."

One recent afternoon, his mother woke slowly after a long nap. His grandmother, Irene Brown, stroked her still-long hair. She sits stiffly in a wheelchair, her fingers curled; her upper body trembling.

"I'm here baby, I'm here," Brown said. "You look great."

She opens her eyes but her blank gaze is upward, seemingly unaware of her home surroundings for the past 28 years.

© 2012 Naples Daily News. All rights reserved. This material may not be published, broadcast, rewritten or redistributed.

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Comments » 13

echoineternity writes:

I am so sorry for what this family is going through. Please pray for them and send positive thoughts and energy their way for peace-filled days ahead.

tampacoco writes:

Many prayers go out to them.

Klaatu writes:

Most Americans are just one illness away from bankruptcy – even those with healthcare insurance.
Yet, 75 percent of the people with a medically-related bankruptcy had health insurance !

At one time or another this will effect you or someone in your Family!
It's outrageous that we don't have a national health care system in the Greatest Country in the World!
Politicians have no incentive to do anything as the taxpayers provide them with Health Care for life!
Yet they do nothing for the taxpayers that provide it for them !

Opinionated writes:

Ditto to all comments so far and God Bless Mark Palmgren, I miss seeing you after work buddy.

randall123 writes:

my prayers go out to the family...Klaatu,you are spot on with your comments.

goldengirl writes:

Kudos to the young brother and sister for being there for their mother, this speaks volumes to their love for her.
God bless this family and help them get through this difficult time....it must be very hard.

MarcoRobert writes:

Charlie, Ashleigh, Mrs. Brown and Stephanie... I know in my own heart and soul that God is a loving God, and that we can never experience more pain than Jesus Christ endured when crucified.

My wish is that everyone and everything Stephanie needs, she gets for the rest of her life, how long that may be.

My prayer for you all is that you come to know and be comforted by the passion of the Cross.

Also, please know that God cries too.

scubatenor writes:

My deepest thoughts to Mrs. Brown-Bryant and the family.

It is also a frightening aspect for all of us in America. This disease has the potential to devastate our country if it indeed permeates our food supply. This disease is also the reason that I cannot give blood in America because I lived in the UK for many years and was possibly exposed to the prions which cause this disease. We should all demand closer scrutiny of our food sources.

FreshFace writes:

Bless you for coming home to help your mom so she's not alone. Rare diseases are so hard to understand and accept. I will be praying for all of you.

tacony19 writes:

My heart goes out to the woman and her children; my mother suffered a brain anuerysm at the age of 62. At the time, my father was in declining health and confined to a wheel chair. My mom was my fathers primary caregiver. I found myself at the age of 42 working full time and being the caregiver to both
parents. While my mom slowly recovered, my dad rapidly declined. I discovered just how alone you are when you find most neighbors, "friends" and even family stop visiting and/or calling. At the time, everyone "advised" me to put both parents into a nursing home, but I refused to give up on them. Sometimes the child becomes the parent, but I thank God for the time I had with my father, and the time I still have with my mom. I'll say a prayer for you and your mom.

HAP writes:

So the point of this story was? Shameful NDN, and Liz Freeman for spewing your liberal views regarding healthcare. That's what this is all about, isn't it. We are pretty sure you will publish more medical stories, prior to the election. We are on to you. Shame on this family for their 15 minutes of what? to expose photo's of someone who has no say in the matter. To hide behind your personal opinion and use a story for your purpose, is fraud, and you are not a real journalist. Every day a different story with the same spin. You all should be fired. Real journalists do not let their personal liberal opinions run rampant in their articles.

sally1860 writes:

HAP, it is you who is despicable. There is absolutely zero mention of anything political anywhere in the article, no requests for donations, nothing.

All newspapers run what are known as "human interest stories," often about people who either are dealing with some unusual challenge, or about people who are offering a new and different solution to problems.

If you dislike the NDN to the extent you seem to, where you see editorializing in the most random articles and photographs, and you dislike human interest stories in particular, then I respectfully (not that you deserve any) suggest that you simply don't read this paper. I'm sure you can find some Tea Party/crazy right-wing hate everything paper out there that won't offend you.

staghorn writes:

in response to sally1860:

HAP, it is you who is despicable. There is absolutely zero mention of anything political anywhere in the article, no requests for donations, nothing.

All newspapers run what are known as "human interest stories," often about people who either are dealing with some unusual challenge, or about people who are offering a new and different solution to problems.

If you dislike the NDN to the extent you seem to, where you see editorializing in the most random articles and photographs, and you dislike human interest stories in particular, then I respectfully (not that you deserve any) suggest that you simply don't read this paper. I'm sure you can find some Tea Party/crazy right-wing hate everything paper out there that won't offend you.

Thank you sally1860 for putting that HAP in her place. If HAP can't find that crazy right-wing hate everything paper, I am certain Ruger and wonderful have plenty they can link HAP with.

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