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Huntington's Disease hope for cure everyday

JimG.

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Huntington more good trails
Breaking News
PTC Therapeutics Announces Initiation of PIVOT-HD Phase 2 Clinical Trial to Evaluate PTC518 in Patients with #HuntingtonsDisease

FULL RELEASE:

#LetsTalkAboutHD #HDSAFamily
Leave it to Scotty to post at 420.
 

ScottySkis

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PBS special most current way technology to reduce Huntington disease
Dr Deepak Chopra Your path
Dr explains how cutting edge neuroscience and ancient wisdom come together to save lives. I recommend it I record it to on PBS channel 13
Over night tonight 1230am
And tomorrow at noon both on today date 4/03
 

ScottySkis

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""The experimental therapy pepinemab can aid cognition in people with early Huntington’s disease who showed signs of cognitive impairment when they started treatment, new analyses from the Phase 2 SIGNAL clinical trial indicate
 

ScottySkis

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""The experimental therapy pepinemab can aid cognition in people with early Huntington’s disease who showed signs of cognitive impairment when they started treatment, new analyses from the Phase 2 SIGNAL clinical trial indicate
 

ScottySkis

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ScottySkis

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To persevere against neurological diseases such as Huntington’s and the aging we all face, I have learned that it is essential to develop meaning and purpose and perform mental exercise. In May 1997, just seventeen months after learning that my mother had HD, a doctor to whom I poured out my heart about her struggles and my own risk told me: just keep doing what you like to do until the disease hits. I have frequently reflected on that advice by imagining the simultaneous challenge and beauty encountered by a surfer riding a wave. “Just keep surfing through life!” I tell myself. During this, HD Awareness Month, we must recognize how the caregiving and financial burdens of HD frequently force affected families to relinquish their dreams. My wife Regina and I have focused on saving, leading us to take usually modest vacations. This year, though, we splurged a bit to celebrate our 30th wedding anniversary with a trip to Hawaii. We found Hawaii wondrous. At a luau we were called to the stage with other celebrating couples to slow dance to a Hawaiian love song. I was introduced to the story of the king of surfing, Honolulu native Duke Kahanamoku, also an Olympic swimming champion. I was intrigued by Kahanamoku. Back home, I sought to build new dimensions of meaning and purpose by exploring his life, joy in surfing, and culture. In Hawaii, Regina and I were frequently welcomed with “aloha,” a philosophy Kahanamoku worked to spread globally. He wrote: “In Hawaii we greet friends, loved ones or strangers with ALOHA, which means with love. ALOHA is the key word to the universal spirit of real hospitality, which made Hawaii renowned as the world’s center of understanding and fellowship.” That solidarity resonates with the fight for human well-being fundamental to the HD cause. In a time of global warming, political strife, and warfare, the world has much to learn from the wisdom of aloha. Read more in my latest blog article.
 

Harvey

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Cross post from NYSkiForums:

Friends...

I have been getting messages from our beloved @ScottySkis that I don't totally understand. I believe his Huntington's Disease has progressed (gotten worse) and that is why we haven't heard from him in a while.

He wants to create more awareness about the disease and asked me to post this link:


He also wants to me continue to promote Plattekill, both (at NYSB) and (here) in his Plattekill thread on Alpine Zone.

Say a prayer for Scotty.

I wish you all the best my man. You always have a kind word to share, and you're a positive force in this world.
 

skiur

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Being that Scotty started this thread, the misspelling seemed appropriate to me.
 

Harvey

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^^ It's true, Scotty has a unique way with English. I have asked him multiple times how I could help, and he hasn't asked for anything, but help in creating awareness of Huntington's Disease. He did thank me and Jim for help in this case.

An upcoming event. I probably won't make it up for that, but I'm going to reach out to Brittany to see if NYSB can donate. I will let you know what I learn.


The Northeast Region of the Huntington’s Disease Society of America (HDSA) will host the Hudson Valley Team Hope Walk on Sunday, October 23rd at 10:00 AM at Walkway Over The Hudson. All proceeds support HDSA’s mission to improve the lives of people affected by Huntington’s disease (HD) and their families.

“It is inspiring to see the incredible outpouring of support our HD community receives at our Team Hope Walk event,” said Melinda Jensen, HDSA’s Northeast Regional Development Officer. “It is a welcoming space for new HD families to find community, and all walkers leave the day with a renewed sense of motivation, determination, and courage to continue the fight against HD.”

Team Hope is HDSA’s largest national grassroots fundraising event, which takes place in over 100 cities across the U.S. and has raised more than $20 million for HD since its inception in 2007. Thousands of families, friends, co-workers, neighbors, and communities walk together each year to support HDSA’s mission to improve the lives of people affected by HD and their families.

For more information about the event, please contact Brittany Johnson ( brittany.johnson@ocservpro.com, 845-551-4172). Online registration and donation can be found at hdsa.org/thwhudsonvalley

HDSA's Team Hope Walk Program is nationally sponsored by Genentech and Teva Pharmaceuticals.

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. Every child of a parent with HD has a 50/50 chance of inheriting the faulty gene. Today, there are approximately 41,000 symptomatic Americans and more than 200,000 at-risk of inheriting the disease. The symptoms of HD are described as having ALS, Parkinson’s and Alzheimer’s – simultaneously.

The Huntington’s Disease Society of America is the premier nonprofit organization dedicated to improving the lives of everyone affected by HD. From community services and education to advocacy and research, HDSA is the world’s leader in providing help for today and hope for tomorrow for people with HD and their families. HDSA was founded in 1967 by Marjorie Guthrie, the wife of legendary folk singer Woody Guthrie. Woody died from HD complications when he was only 55 years old, but the Guthrie family legacy lives on at HDSA to this day.

To learn more about Huntington’s disease and the work of the Huntington’s Disease Society of America, visit www.hdsa.org or call (800)345-HDSA.
 

Harvey

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Scotty is participating in a clinical trial for new Huntington's Disease treatment:

"Trials yes, but hard for me because mostly in the city at Columbia University which is far from where I live in Middletown NY. But medicine should be for all of us HD patients very soon from my doctor who specializes in HD work in Middletown."

Best of luck with this @ScottySkis.
 

Harvey

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It seems that Scotty is participating in a clinical trial for new Huntington's Disease treatment:
I got this wrong. Scotty isn't in a trial, but I think his doctor is trying some new medicine to try to relieve his stomach issues. I'm not 100% sure his stomach issues are related to Huntington's to tell you the truth. But it sounds like he is going through an extremely difficult time.

It happens all time days when I just drink water, or eating food, Good news I lost lot's of weight down above 30 lbs.

This is why I feel like I don't have lots of time left here in this life. I am the same stomach issues that continue, and every thing else that talks about still bothering me. Hope the new medicine that the doctor gave us came yesterday I started as prescribed on everything.

Huntington disease experts on why it's hard to get new medicine for people, like me. Good article below I recommend reading it when you have few minutes.

"Huntington's disease (HD) is a neurodegenerative genetic disorder prevalent in around 5 to 10 per 100,000 individuals in North America and Western Europe. This disease is caused by the expansion of polyglutamine (polyQ, CAG) repeated in the first exon of the protein huntington (Htt). Although HD was identified approximately 20 years ago, scientists face many challenges in developing effective treatments for the disease."

https://www.news-medical.net/health/What-are-the-Challenges-in-Developing-New-Treatments-for-Huntingtons-Disease.aspx

News finding on how Huntington disease works against my body.

https://phys.org/news/2022-08-insights-huntington-disease.html
I sense that Scotty still wants to be part of the group here (and at NYSB) but just can't do it himself.

I'll try very hard not to post any misinformation, sticking to quotes, and not interpreting.

Scotty - apologies to you for not doing a better job at this.
 

JimG.

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Scotty asked me to post this and to say hello to everyone and to let everyone know he is OK but definitely struggling more with his HD symptoms:

HD trials not me in the study but at least positive news
Can you post this when you on AZ
You can please tell everyone I OK

HD trials medicine good news below for the whole HD community.
"""BREAKING NEWS
Genentech/ Roche announce the plans for GENERATION HD2, a new Phase II clinical study expected to start enrolling study participants early next year.

Click here for full statement: https://nam12.safelinks.protection.outlook.com/?url=https%3A%2F%2Fhdsa.org%2Fwp-content%2Fuploads%2F2022%2F09%2FRoche-Global-Patient-Community-letter_EHDN-2022.pdf&data=05%7C01%7C%7Ceeb601665ecf43d375b208da99cebb64%7C84df9e7fe9f640afb435aaaaaaaaaaaa%7C1%7C0%7C637991410429189558%7CUnknown%7CTWFpbGZsb3d8eyJWIjoiMC4wLjAwMDAiLCJQIjoiV2luMzIiLCJBTiI6Ik1haWwiLCJXVCI6Mn0%3D%7C3000%7C%7C%7C&sdata=Ko9OHDMqT0Fxdb9NVLx%2BzX3e%2F4jFAYdSBNpnLK6DHu4%3D&reserved=0

#LetsTalkAboutHD #HuntingtonsDisease #HDSAFamily
 

JimG.

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Posting again for Scotty. He's having a rough time but hanging in there.

HD great info for tria
""It's happening! Wave Life Sciences has officially released a press release with initial results from their new Phase 1b/2a study of WVE-003.... and the results are POSITIVE!
WVE-003 is Wave's third attempt at getting an ASO to knock down the mutant Huntington protein. Like Roche, it's an ASO. The big difference is Wave is targeting ONLY the mutant protein. In additional big news, Wave has developed a way to track the levels of mutant protein and wild type protein! That's a big step!
Here is a quote from the press release:
“Based on these initial data, it appears that our preclinical data for WVE-003 are translating in the clinic,” said Michael Panzara, MD, MPH, Chief Medical Officer and Head of Therapeutics Discovery and Development at Wave Life Sciences. “We are encouraged to see a mean CSF mHTT reduction from baseline of 22% at day 85 after participants received just a single dose of WVE-003, demonstrating a compelling pharmacological profile for individuals with HD. We are grateful to the HD community, including the SELECT-HD participants, study sites and advisors, for their continued partnership and support of this program. We look forward to continuing to expand this study and sharing additional data next year.”
You can read the full press release here: """
https://www.globenewswire.com/en/news-release/2022/09/20/2519092/0/en/Wave-Life-Sciences-Announces-Positive-Update-from-Phase-1b-2a-SELECT-HD-Trial-with-Initial-Results-Indicating-Allele-Selective-Target-Engagement-with-WVE-003-in-Huntington-s-Diseas.html
 

JimG.

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More from Scotty:

"Huntington disease best explains:
Education 💙💜💙

•Huntington's disease is a neurodegenerative brain disease.
•Huntington's disease is caused by the loss of neurons in the brain that causes the brain to deteriorate overtime.
•The basal ganglia is the part of the brain this disease occurs. Basal ganglia controls movements, behaviors/emotions, and cognitive abilities. The death of the nerves cells in this area of the brain causes malfunctions and symptoms as well as physical damage to the brain. This is what happens when onset of the disease begins and slowly worsens overtime.
•Huntington's disease is like having Parkinson's, ALS, and Alzheimer's all in one. These diseases also are brain diseases that affect the basal ganglia.
•HD is inherited through a parent with the Huntington's disease gene. A parent with HD has a 50/50 chance of their children inheriting it.
•Mutations in the HTT gene cause Huntington disease. The HTT gene provides instructions for making a protein called huntingtin. Although the function of this protein is unclear, it appears to play an important role in nerve cells (neurons) in the brain. Although recently research/scientists are discovering and trying to find answers to the role of protein. They are learning as we speak 🙏
•The inherited mutation that causes Huntington disease is known as a CAG trinucleotide repeat expansion that is used by numbers that expresses the sequence of expansion.
•These numbers give us an idea of the age of onset. You must be tested for HD to get these results.
•Although 36-39 are considered highly at risk that may or may not develop the disease.
•Numbers 40-50 are Huntington's disease positive.
•50-120+ is juvenile Huntington's disease where children and teens are affected.
•Here is the tricky part about it, if you get results and numbers between 27-35 you are in the grey area. This doesn't mean you will get the disease, but this doesn't promise your children won't inherit it.
•Anticipation happens with t
his disease where each generation who inherits the disease develops it earlier and has more severe symptoms.
•Normal range for healthy CAG repeat is 10-26.
•Everyone has Huntington's, but not everyone has Huntington's disease.
•These numbers determine age of onset, but it isn't always accurate. Most become sick around age 40. Although any age from toddler to late 80s can begin onset of this disease.
•Everyone with HD is different.
•HD doesn't discriminate. Any age, race, gender, or person can have this disease.

•It is considered a movement disorder although not everyone with HD experiences the chorea (involuntary movements).
In fact some may just have tremors, dystonia, or twitches.
•Through the years we have discovered those with more increased symptoms of involuntary movements like chorea do not have much of the mental impairments or behaviors of those without.
•Others with Huntington's without the chorea symptom experience major mental illnesses. They struggle controlling their emotions/behaviors that is similar to child-like behavior. They seem to be more aggressive/violent with severe depression.

-Anyone with Huntington's can have these symptoms:
•Severe depression
•Suicidal thoughts or thoughts of dying (please seek help)
•Anxiety
•Anger/outburst
•Impulsive
•Can not multitask
•Perservation (stuck on thoughts/past/thing)
•Poor decision making
•Poor judgement
•Memory loss
•Trouble with concentration
•Brain fog
•Delayed responses
•Longer to process thoughts
•OCD
•Paranoia
•Delusions
•Insomnia
•Hallucinations
•Slurred speech
•Chorea(involuntary movements that are dance-like)
•Tremors(shakes in hands, vocal cords, and other body parts)
•Twitches
•Dystonia(muscle spasms that results in abnormal posture in hands or pain in other areas of body)
•Clumsiness
•Abnormal gate (slow walk)
•Poor coordination
•Trouble swallowing
There are more too, but these are most common.

• Huntington's disease has five stages where later stages they can no longer care for them
selves.

•To reassure the safety of those affected with HD is important to know suicide is common with HD.

Quiz Friday.
 
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