News articles and stories on coping

These stories are written from family members who are learning to cope with CADASIL.  If you would like to write your story or information about CADASIL for our non-profit organization please e-mail us at info@cadasilfoundation.org.

Thank you for those who wrote about CADASIL so we can help each other learn to cope with this disease. Please if you would liket to submit your story please contact us.

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NEWS STORIES FROM AROUND THE WORLD


WAFTING HEAVENWARD

Personal stories from Hospice of Naples' second annual butterfly release By Melanie Peeples from the BonitaNews.com Wednesday, April 5, 2006  All at once, close to a thousand butterflies take flight in Cambier Park, released into the air by people memorializing their lost loved ones

Hospice of Naples, an organization that helps care for people who are terminally ill and their families, hosted the service Sunday afternoon. Every butterfly has a story. Here is a small handful: Excerpt only for the CADASIL info -please go to  A wife - Josie Rogers was well-loved. "We had a perfect marriage," her husband, Fred says. "We loved one another very deeply."

He met his wife on a blind date in the 1950s. "I don't think she was very struck with me, but I was struck with her." She was beautiful, he says. A ballet dancer who danced at the Royal Albert Hall in London. He was fond of music, and it turned out to be a very good match. They were married for 47 years.  Fred's job transferred them to the U.S. and Josie became an American housewife. She learned how to drive while he was away on a business trip and surprised him by showing up at the airport in their car. And she became a mother. "She went into that with great gusto. She enjoyed being pregnant and thoroughly enjoyed having babies," Fred says. "She was a great mom. We went through all those things that new parents go through. You know, 'Will it bounce if we drop it?' kind of thing."

They had two children, a boy and a girl who grew up American, so Josie and Fred naturalized their own citizenship. Then Josie fell ill. She had a seizure and mini-strokes that doctors said were migraines. For a long time they didn't know what was wrong with her. Then the disease got a name: cadasil. It's a degenerative genetic disorder that ultimately leads to vascular dementia.

Josie lost her ability to swallow and speak in 1999. Doctors inserted a feeding tube and Fred became her caretaker. He found ways to communicate. He'd play her favorite music. Ballet, opera. There was one special piece he'd play: "Scheherazade." It's a powerful, exciting symphonic composition that builds to a terrific crescendo. "You could see her body tense as the music built up. It was great for me to know that she had that kind of comprehension," Fred says.  He'd put her in her wheelchair and, sometimes, on nice days, they'd chase ducks and she'd laugh. "Little things like that. There were things that she could understand."  She couldn't move much on her own, but one day as Fred was lifting her out of the tub after bathing her, she leaned forward and kissed him. "Oh, man, I could have broken up right there," he says.

He knew that while the disease had taken control of her body, his wife was still in there. Somewhere, like a butterfly in a cocoon waiting to be freed. "That's why the butterflies mean so much," he says. "It becomes a symbolism. As you open up these butterfly containers, they're all lethargic and they slowly awaken, and their wings flap a couple times as the sun gets on them, and after a couple of seconds they have the strength to fly away. And that's the freedom. That's the passage of this life into the next. They cast off the shackles of the disease and get back to freedom." © 2005 Bonita Daily News and The Banner. Published in Bonita Springs, Florida, USA by the E.W. Scripps
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From Men's Health Magazine Sept 2005
My Father’s Killer
How my father coped with CADASIL and should I be tested?
Click on this link.
My father’s killer from Men’s Health Magazine

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PROTEST AGAINST GENETIC DISCIMINATION

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'FAMILY TREE' LOSES GENETIC DEFECT by Karen Garloch
 From the Charlotte Observer newspaper and Charlotte.com Posted on Monday June 20^th, 2005 

When Father's Day rolls around next year, David Brinson plans to be celebrating. Until recently, he wondered if he'd ever be a father.

The 40-year-old Charlottean learned three years ago that he has a genetic disorder that causes him to have mini-strokes and migraine headaches. The condition is called CADASIL, short for cerebral arteriopathy, autosomal dominant, subcortical infarcts and leukoencephalopathy. No cure exists.Except for an especially bad episode three years ago, Brinson has controlled his condition by treating the

symptoms. Looking back, he realizes he inherited the condition from his father, who died in his 60s, and that his father inherited it from his own mother, who died in her 80s. Anyone with the condition has a 50-50 chance of passing it to a child. And, Brinson and wife Toni have been told that as it passes through each generation, symptoms can start earlier.  "There's some horror stories online," said David Brinson, who noticed his first symptoms at age 10. He and Toni have been married nine years, and they had talked about having children. Once they got the diagnosis, they concluded they would have to adopt. But last summer, Toni Brinson tried one last time to find a way to have a biological child. 

She knew there were tests for abnormalities after conception, such as chorionic villus sampling and amniocentesis.By searching the Internet, Toni Brinson learned about preimplantation genetic diagnosis, or PGD, a test that can detect a single-gene defect in an embryo before it is implanted into the uterus during in vitro fertilization. She called a reproductive endocrinologist in Charlotte, Dr. Gordon Kuttner, who agreed to help them.

He contacted Dr. Mark Hughes, director of Genesis Genetics Institute in Detroit. Hughes had developed PGD more than a decade ago, and Kuttner knew it could detect genetic abnormalities, such as cystic fibrosis and sickle cell anemia. It had never been used to test embryos for CADASIL, Genesis officials told Kuttner. But they were able to create a specific marker to identify David Brinson's abnormality.  To get the embryos, the Brinsons started a cycle of IVF, a technique usually reserved for couples who cannot conceive naturally. David Brinson's sperm joined with Toni Brinson's eggs to form 12 embryos in a laboratory at Wake Forest University, in conjunction with Kuttner's office. Nine embryos lived to be three days old, and the lab tech took single cells from each and sent them to Genesis.

For the next 19 hours, a team of Genesis scientists tested the embryos and found four that did not have the defective gene. They relayed that information to Kuttner and the Wake Forest lab. Two of the four healthy embryos were transferred into Toni Brinson's uterus on Day 5. The other two were frozen for possible future use. The unhealthy ones were discarded. That was Nov. 20. David Brinson, 40, and Toni Brinson, 35, are expecting their baby the first week of August.  Although they know some people would question the ethics of discarding embryos, the Brinsons are glad they found a way to rid their family tree of a serious genetic problem without having to face the decision to abort a fetus later in development.

Toni Brinson said their insurance company wouldn't cover the procedure -- $25,000 for the test and IVF. In fact, she said a representative she spoke to on the phone suggested that she and her husband should get pregnant, have amniocentesis and "de-select," or abort, the defective fetuses. The Brinsons believe, as does Kuttner, that they practiced "preventive medicine" by avoiding the potentially huge costs of caring for a child with health problems.

"We found out we could effectively knock this out of the family tree, so we've done that," David Brinson said. "There's a tremendous relief in knowing that."
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 UK SCIENTISTS CLONE HUMAN EMBRYO

British scientists say they have cloned the country's first human embryo.  BBC article dated May 20, 2005

The Newcastle University team took eggs from 11 women, removed the genetic material and replaced it with DNA from embryonic stem cells. The aim of this kind of work - the subject of fierce debate - is to make cloned embryos from which stem cells can be used to treat diseases. Meanwhile South Korean scientists say they have created stem cells to match individuals for the first time. Stem cell lines were created by taking genetic material from the patient and putting it into a donated egg. The resultant cells were a perfect match for the individual and could mean treatments for diseases like diabetes without problems of rejection. Therapeutic cloning - believed to have huge potential to treat disease and disability - is allowed in Britain. Reproductive cloning - the cloning of human embryos with the intention of creating a baby - was made illegal in 2001.

We are talking about several years before we are talking about a cell-based therapy that can go back into the patient Professor Alison Murdoch. The UN recently voted in favour of a ban on all human cloning, but this was non-binding which means the UK can continue to do therapeutic cloning.  The use of embryonic stem cells is controversial, with opponents arguing that all embryos, whether created in the lab or not, have the potential to go on to become a fully fledged human. Others fear there are safety concerns. Supporters of cloning say it could offer numerous benefits in the future, such as fighting disease, battling infertility or preserving endangered species.

'Unsafe and inefficient' Criticising the Newcastle research, Julia Millington from the ProLife Alliance said cloning for research purposes was profoundly unethical. Josephine Quintavalle from CORE said: "No matter how it is created, a human embryo's destiny should be to live and not to be turned into human stem cells." Life said cloning was "unsafe and inefficient", and involved exposing women to dangerous fertility drugs in order to collect sufficient eggs.

STEM CELLS

Stem cells are master cells, obtained from early-stage human embryos, with potential to develop into any of the body's tissue types There are different types, but scientists believe the most useful stem cells come from the tissue of embryos The copy pre-embryo created for therapeutic cloning is destroyed in the process

In the Newcastle research, three of the resultant clones lived and grew in the laboratory for three days and one survived for five days. The critical factor for success appeared to be how quickly the egg was collected and manipulated, Professor Alison Murdoch and colleagues found. The clone that lasted for five days had been collected and manipulated within 15 minutes.

Other tissues - Stem cells have the ability to develop into virtually any tissue in the body and could, in theory, be used to replace damaged cells in conditions such as Parkinson's disease and diabetes. But Professor Murdoch said this was still a long way off. "We are talking about several years before we are talking about a cell-based therapy that can go back into the patient," she said. Colleague Dr Miodrag Stojkovic said: "I'm really happy but I know that this is just the beginning of a long journey so we have to continue to try to derive stem cells that will definitely help us one day to cure diseases." The UK research is published in Reproductive and BioMedicine Online.
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 SCIENTIST'S CURING BID from the Chronicle Heat and Soul of the North East dated April 7, 2005
by Craig Thompson

A scientist who diagnosed his own rare condition is now paying for research to find a breakthrough.    Jack Shields, 73, helped launch the CADSIL Research and Support Trust in Newcastle, the first charity of its kind anywhere in the world.    Now, he is paying for a new research post, allowing scientists from Newcastle University's Institute for Ageing and Health to look further into the condition.  Roger Low has been appointed to carry out research focusing on CADASIL and will be working with stem-cell specialist Dr Miodrag Stojkovic of Newcastle's Life Sciences Centre.     The potential for stem cells to provide a cure for the condition is something under consideration.

CADSIL is a hereditary migraine disease that, combined with small strokes, can cause memory loss.      Mr Shields, of Thropton, Northumberland, diagnosed himself with the condition in 2001.     He said: "This is a very big step forward in what we are trying to do. "We want to bring together stem cell research with our work as we are pretty sure that is where a cure is going to be found." Born in Walker, Mr Shields did research work on Tyneside after an apprenticeship with Newcastle-based Howard Grubb Parsons company. He later gained a Master of Science degree and was made a fellow of the Royal Institute of Chemistry.

Retiring in 1988 due to ill health, Jack later became concerned about the general worldwide lack of awareness surrounding CADASIL.    To undertake all the stresses and strains of setting up a charity, Mr Shields knew he would have to keep himself alive, and began self-experimenting for a treatment.    Although not a trained doctor, he combined personal knowledge of the condition and common sense, and found a natural amino acid treatment that has worked successfully now for a period of two years.    He is now working on building relationships with experts to encourage and support research into finding a cure. Mr Low, who has now taken up his appointment, said: "This is going to take time and money but we need to find a cure for CADASIL. "We still don't understand what causes the condition and that is something we are going to be looking into." 

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RARE DISEASE VICTIM BRINGS OTHERS HOPE
from Chronicle Heart and Soul of the North East

A scientist who diagnosed the little-known disease he was suffering from and then worked out his own treatment is battling to bring hope to others. This week 73-year-old Jack Shields will launch the CADASIL Research and Support Trust in Newcastle, the first charity of its kind anywhere in the world.It is the result of a three-year battle by Mr Shields, of Thropton, Northumberland, who decided to devote the rest of his days to helping other sufferers after finding there was so little help around for victims of CADASIL, a hereditary migraine disease combined with small strokes which can cause memory loss. Mr Shields was so desperate to discover what was affecting him that he paid for his own brain scan to be carried out in 2001.

He said: "They found out I had brain damage. White matter, which develops if you have strokes, also showed up.
"Being a computer enthusiast, I traced information related to this and I realised what was wrong with me.
"Being a scientist and being educated in chemistry I decided to look at it myself. And I realised that if I wanted to anything to help CADASIL sufferers I had to keep myself alive.  "I have been using my own treatment for 20 months."Mr Shields has forged a partnership with stem cell research specialist Dr Miodrag Stojkovic of Newcastle's Life Sciences Centre, who will be at Friday's launch.  The potential of stem cells to provide a cure for CADASIL is something under consideration. Also at Friday's launch will be MP Alan Beith, patron of the new trust.
The launch will take place during a CADASIL awareness symposium at the Life Sciences Centre which is expected to be attended by more than 100 doctors.   Born In Walker, Mr Shields did research work on Tyneside after an apprenticeship with the Newcastle-based Sir Howard Grubb Parsons company. He later gained a Master of Science degree and was made a fellow of the Royal Institute of Chemistry.      He won recognition for developing an infrared milk analyser after setting up his own company, Shields Instruments Ltd, in Yorkshire.

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