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Huntington’s Disease

Huntington's Disease, The Marin Siblings

Huntington’s Disease Impact Through the Generations

Phyllis Marin

Most of John’s relatives, did not know or understand the magnitude and the impact of Phyllis’s diagnosis of Huntington’s disease (HD) on the four Marin siblings lives.

Because Phyllis had HD, Lora, Marcia, Cindy and John each had a 50/50 chance of inheriting this horrific disease with no test, at the time, and no cure or therapy.  HD is a rare, fatal, genetic brain disorder that has the symptoms of ALS, Parkinson’s and Alzheimers at the same time, strikes during prime working years, is a long progressive disease and has no cure.  Sixteen percent (16%) of HD cases are children with Juvenile HD.      http://www.hdsa.org

Their story is not unusual and I’ve heard similar stories from families in the HD community; one of secrecy, deception and misdiagnose.  John’s father never told the siblings about their mother and they had to discover on their own why Phyllis was in Napa State Mental Hospital for 18 years.

Through the years I have come to believe their father did this to protect them, but it still seems unfair to have kept this information a secret. 

Lora, Cindy and Marcia Marin

 

 

We Can Never Lose HOPE………………..

100% of the nonfiction book, Watching Their Dance: Three Sisters, a Genetic Disease and Marrying into a Family At Risk for Huntington’s is being donated to the nonprofit, Huntington’s Disease Society of America.  To date, $14,100.00 has been gifted to HDSA.

Author website:  http://www.theresecrutchermarin.com

 

Watching the Dance Huntingtons Disease

 

 

Huntington's Disease

Today is Rare Disease Day

In the United States, the Rare Diseases Act of 2002 defines rare disease strictly according to prevalence, specifically “any disease or condition that affects fewer than 200,000 people in the United States”, or about 1 in 1,500 people.

With that said, Huntington’s Disease (HD) is a rare disease since it affects approximately 30,000 people in the U.S.   What-is-HD

Marjorie Guthrie

The poster child for HD is the famous folk singer Woody Guthrie who died of complications from HD on October 3, 1967. Marjorie Guthrie was instrumental in the quest to heighten HD awareness, and also connecting with the HD families in the United States. She started, The Committee to Combat Huntington’s Disease (CCHD) in 1967. To read more about the CCHD, go to https://hdsa.org/about-hdsa/hdsa-history/

I’m an HD advocate, having lost my three (3) sisters-in-law to the disease. I volunteer for the nonprofit, Huntington’s Disease Society of America (HDSA) to help in the fight against this horrible disease that affects families for generations. I’m currently working with a group of HD advocates to organize a HDSA Affiliate in the San Francisco Bay Area which, hopefully, in a couple of years will evolve into a HDSA SF Bay Area Chapter. https://hdsa.org/about-hdsa/chapters-affiliates/

Author Therese Crutcher-Marin

100% of the proceeds from Therese’s book is being donated to HDSA. Since publication, Therese has donated $14,115.00. Her author website is: http://www.theresecrutchermarin.com

We Can Never Lose HOPE…..

Huntington's Disease

Prevalence of Huntington’s Disease in the U.S.A.

Have you ever wondered where Huntington’s disease (HD) originated? Or why it’s predominantly found among Europeans and those of European descent? What-is-hd/

Europe

Most scholars believe that European migration was what brought HD alleles into the continents of North America, South America, Australia and New Zealand, and the prevalence of HD in these regions is now similar to that of Europe, where HD affects around 40-100 per million people. (or 4-10 per 100,000)

Experts estimate that one in every 10,000 persons—nearly 30,000 in the United States—have Huntington’s disease. (10 in 100,000, 100 in a million). Juvenile Huntington’s occurs in approximately 16% of all cases. http://web.stanford.edu/group/hopes/cgi-bin/hopes_test/hd-in-europe/

100% of the profits from the book, Watching Their Dance, an inspirational love story while living in the shadow of HD, is being donated to the nonprofit, Huntington’s Disease Society of America (HDSA). Since the book was published, in April 2017, Therese has donated $14,100.00 to the nonprofit, Huntington’s Disease Society of America.

Therese at the 2018 HDSA Annual Convention in LA.
Huntington's Disease

Prevalence of Huntington’s Disease Around the World- In the U.K.

Have you ever wondered where Huntington’s disease (HD) originated. Over the years, I have been curious where and when it started appearing in people. So, I did some digging and discovered some interesting facts.

Europe has been highly significant to the history and study of HD. The greatest frequencies of HD are found in Europe and among populations of European descent. Most scholars believe that European migration was what brought HD alleles into the continents of North America, South America, Australia and New Zealand, and the prevalence of HD in these regions is now similar to that of Europe, where HD affects around 4-10 per 100,000 people. HD-in-europe/#united-kingdom

Origins 
The United Kingdom (U.K.) is the hereditary origin of many of the first cases that were identified as Huntington’s disease (HD). Scholars have traced thousands of prominent cases of HD in New England, U.S.A., back to a few families that emigrated in the seventeenth century from Suffolk in England.

Currently, it is estimated the prevalence of HD in the U.K. is approximately 12.4 per/ 100,000. Since this is a conservative estimate, which only includes people in contact with the Huntington’s Disease Association (HDA), the true prevalence of HD in the U.K. must be even higher. 

The HDA website has a wealth of information on Huntington’s disease in the United Kingdom: https://www.hda.org.uk/

We Can Never Lose HOPE……

Huntington's Disease

Trey Gray

Trey Gray has had a successful career as a professional drummer. Gray played with Faith Hill on her climb to fame for seven years and then played with Jewel. He is now the drummer for the popular country duo, Brooks and Dunn. In 2003, Trey Gray tested positive for the Huntington’s disease gene and has since been committed to supporting research and raising awareness about HD. http://aheaddrumsticks.com/trey-gray.html

In 2015,Trey, Doug Michael and Anett Pappas cofounded The Huntington’s Disease Foundation. The Foundation is recognized and registered in Texas as a 501 (c) (3) non-profit charity. Huntington’s Disease Foundation was created to keep Trey’s dream alive and find a way to turn his disease into something positive. With creating this Foundation we aim to stay focused with the vision and be able to reach more people at a more personal, heart felt level.

HDSA Northern California Chapter Convention/Education Day

Trey wrote a book jacket comment that appears on the back cover of my nonfiction book, Watching Their Dance“Tears, laughter, blessings and HOPE…An amazing story that will touch, and help, I pray, everyone who reads it.”            

The book is on many book websites like amazon.com

100% of the proceeds from the book is being donated to Huntington’s Disease Society of America.  

We Can Never Lose HOPE…..

 

 

 

Hope, Huntington's Disease

Great Time to Get Involved

Today is the last day of May; HD Awareness Month. With the publicity generated this month by HD organizations and community members, hopefully, we have heightened awareness of this horrific disease that devastates HD family for generations.  

I wish to thank Dr. Carroll, a gene positive HD advocate and a devoted, brilliant HD researcher, who has done so much for Huntington’s disease.  Jeff says it a great time to become involved in HD research!  

Dr Jeff Carroll, PhD — Boston, USA  https://westerntoday.wwu.edu/features/psychology-s-jeff-carroll-awarded-new-100k-grant-to-research-huntington-s-disease  

 Article, Slightly long CAG repeats are more common than we thought.

For more information about Huntington’s disease please visit  http://www.HDSA.org  & join the fight! To for more information about HD Clinical Trials please visit  http://www.HDTrialFinder.org 

#LetsTalkAboutHD    #HDSAFamily

Huntington's Disease

Scrubs TV Show and Huntington’s Disease

In an earlier post this month, I showed some scenes from the TV show House, who had a character, 13, who was at risk for Huntington’s disease.

In the season 8 finale of Scrubs, a popular medical TV show, one of the doctors diagnoses a 70-year-old woman with Huntington’s disease. While manifestation of the disease is more common during middle age, presenting symptoms later on is possible. JD, the physician on the show, does his best to explain the disease in a manageable, understandable way without neglecting to mention that the patient’s son, Mr. Stonewater, is also at risk for this genetic disease. JD offers Mr. Stonewater the genetic test that would reveal whether or not he had inherited the same faulty gene as his mother. Mr. Stonewater asks for some time to consider his options.

JD goes through the rest of his day fazed, as he knows how devastating the disease is and how difficult a decision it is whether or not to pursue genetic testing. When Mr. Stonewater informs JD that he does not want to take the test, JD respects his wishes.

May is Huntington’s Disease Awareness Month

Therese will be selling her memoir/nonfiction book, Watching Their Dance: Three Sisters, a Genetic Disease and Marrying into a Family At Risk for Huntington’s, at HDSA Annual Convention, June 7-9.  The book is available on her author website  http://www.theresecrutchermarin.com   & on Amazon, B&N, & in Kindle, Kobo, Nook, iBooks format. 100% of the profit from the book is donated to HDSA. 

In December, Therese and John donated $9,015.00 to Huntington’s Disease Society of America (HDSA) which was the profit from 2017 book sales.

#LetsTalkAboutHD   #WeCanNeverLoseHOPE  #WatchingTheirDance  #HDSAFamily

Huntington's Disease

Prevalence of Huntington’s Disease Worldwide

 Around the world, cases of Huntington’s disease are found in 5-10 out of 100,000 people. There does not appear to be a difference in the numbers for men and women while some variance is recorded for ethnic groups and geographical locations.

Huntington’s disease (HD) is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. It deteriorates a person’s physical and mental abilities during their prime working years and has no cure. HD is known as the quintessential family disease because every child of a parent with HD has a 50/50 chance of carrying the faulty gene. Today, there are approximately 30,000 symptomatic Americans and more than 200,000 at-risk of inheriting the disease.   http://www.hdsa.org        http://hdsa.org/what-is-hd/#stages  

For instance, rate of occurrence is highest in peoples of Western European descent, averaging around 7 per 100,000 people while only about one case per million is recorded for people of Asian and African descent.

According to nhs.uk, the rate of Huntington’s disease in the United Kingdom is 12 per 100,000 people.

In the United States approximately 10 per 100,000 have the faulty huntingtin gene and live either waiting for symptoms to begin or live/struggle with the disease.   http://web.stanford.edu/group/hopes/cgi-bin/hopes_test/hd-in-europe/#united-kingdom  

Watching Their Dance: Three Sisters, a Genetic Disease and Marrying into a Family At Risk for Huntington’s, a nonfiction/memoir, can be purchased on Therese’s author website        Amazon     B&N       &  Kindle, Kobo, Nook, and iBooks format.

100% of the proceeds from the book is being donated to the nonprofit, Huntington’s Disease Society of America (HDS).

We can never lose Hope………………..Therese

Subscribe to Therese’s Blog via Email

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Huntington's Disease

Update on the Huntington’s Disease Parity Act

Max Moon, board member of the HDSA Northern California Chapter, keeps the board updated on the HD Parity Act.  Here’s his latest report.

  1. HDPA currently has 101 cosponsors in the House, 3 in the senate, and we are looking to push that number up even further. We need more republicans to sign on to the bill in the House and Senate to push the bipartisan support for the bill. We have several Dems who want to sign on in the senate but are holding off until we get another republican member to join in. If you have friends, loved ones, relatives affected by HD who live in states with Republican Senators, especially Tennessee, you can write to their members of Congress on their behalf! You can go to www.hdsa.org/takeaction and use the zip code of your loved one to send a message on their behalf.
  2. We are still looking for a useful healthcare reform bill to come out of the House or Senate, we are deeply concerned about the discontinuation of the CSR payments by the current administration, and know that for families who have found healthcare on the exchanges it will inevitably drive up healthcare premiums significantly for families that cannot afford it. We are watching the Alexander/Murray bill to see what kind of reforms will be included in the bill and are hopeful that a bipartisan approach will find a path to reforming our healthcare system that will help HD families.

HDSA advocacy works to advance legislation and policy to improve the lives of HD families by raising awareness about HD in the U.S. Congress, by promoting legislation, policy and regulations that would help individuals in the HD community, by educating Federal agencies about HD, and by partnering and collaborating with national organizations that have common goals.  Jennifer Simpson, HDSA Manager of Advocacy & Youth Programs.  Jennifer is on the left with hands in the air.     http://hdsa.org/about-hdsa/advocacy/  

100% of the proceeds from Watching Their Dance: Three Sisters, a Genetic Disease and Marrying into a Family At Risk for Huntington’s, a memoir/nonfiction book, is being donated to Huntington’s disease organizations around the world.

To purchase the book, go to Therese’s website:  http://www.theresecrutchermarin.com and Amazon    B&N     Kindle     Kobo      Nook 

Huntington's Disease

Dr. Ed Wild Shares Good News About Huntington’s Disease

          

A cure for Huntington’s disease (HD) is within reach, a charity conference has heard.

Dr. Ed Wild, one of the world’s leading researchers into the degenerative neurological condition said research into treatments for the condition was now on a “knife edge.”

Wild outlined how several particularly exciting drug programmes were now moving into advanced stages.

He told the delegates at the annual Scottish Huntington’s Association (SHA) conference: “In my career working with HD I’ve never been more excited,” he said.

“Not only is research into effective treatment making real progress, but the way the condition is perceived has changed beyond all recognition.

“When I first started working with HD patients it was very much a disease hidden away, people did not want to talk about it. Now people are signing up for worldwide clinical trials and openly sharing their stories to increase understanding.

“It really is beginning to step out of the shadows.”

The latest drugs in development aim to reduce production of the faulty protein created by the genetic change that causes HD. The treatment aims to allow the brain to repair damaged cells; it is hoped this will have the effect of slowing down the rate that symptoms develop.

The SHA is the only charity in the country that supports families living with the condition through a team of HD specialists; a dedicated youth support team and a financial wellbeing service.

HD is a complex neurological condition with symptoms that typically begin to develop between the ages of 30 and 50. It causes three main groups of symptoms: changes to thinking processes – a type of early onset dementia, loss of muscle control and involuntary movements which lead to loss of speech and swallow along with mental illness.

Those impacted by HD may eventually lose the ability to walk, talk, eat, drink, make decisions or care for themselves requiring 24-hour care. It is also hereditary with each child of those diagnosed carrying a 50% risk of developing the disease. There is currently no cure.

It is estimated there are around 1,100 people living with HD in Scotland and between 4,000 to 6,000 potentially at risk.

“HD is often called the most curable incurable disease, because unlike other neurological conditions, such as Alzheimer’s, we know exactly what causes it, we just didn’t know how to treat it, I strongly believe we are now moving in the right direction,” added Dr Wild.

  http://thirdforcenews.org.uk/tfn-news/cure-for-huntingdons-disease-within-reach#8bhF75lBlf3ubCts.99   

Therese’s memoir/nonfiction book, Watching Their Dance: Three Sisters, a Genetic Disease and Marrying into a Family At Risk for Huntington’s, is available on her author website  http://www.theresecrutchermarin.com   & on Amazon, B&N, & in Kindle, Kobo, Nook, iBooks file.

100% of the proceeds is being donated to HDSA in the U.S. and to Huntington’s disease organizations around the world.

We can never lose HOPE…….Therese