First, let’s talk about grief.  Grief is a complicated emotion that can occur after you lose someone, but also with any major life changes.  When we talk about HD, there are many instances when grief may occur:

• When losing a loved one
• Your own diagnosis or family members
• Changes in the home (parent unable to do tasks, changes in activities due to illness)
• Moving a loved one to a care home
• Changes in traditions due to changes in family

The holidays often bring up a lot of complicated feelings or exacerbates feelings we are already having.  Know that you are a not alone, change is hard and, although it can be tough, try to appreciate the moments of joy when they occur.

There is no one way to navigate the holiday’s, but here are some tips:

• Allow yourself to be sad.
  • The holidays tend to force happiness and joy down our throats, but it is okay to sit with our grief
• Honor old traditions and create new ones
  • Changing of traditions can be hard on everyone, but it is okay to work to honor the old ones while creating new ones
• Say a prayer or memory before a big holiday meal for your lived one
  • These can help you feel connected to your loved one even if they can’t be at the table with you
• Ask for help
  • Reach out for support, a shoulder to lean on or someone to listen. You don’t have to do this alone!
• Remember it is okay to be happy
  • Life if full of many events that cause pain and sadness, but it is okay to find happiness and enjoy it. Even if a change or loss is recent, it is okay to focus on the things that bring you joy

As we move through this holiday season remember that grief is normal, and it is always heightened around these times.  It is okay to deal with grief in your own way and reach out for help if you need it.

Not only did I have the opportunity to attend my first ever EHDN Conference, but I also spoke in two different sessions; Everyday Life as an HD Gene Carrier and Debate Session about Confidentiality in Huntington’s Disease. I didn’t really know what to expect since I heard it happens every two years in Europe and is one of the largest HD gatherings in the world. It was definitely different compared to the HD conferences I have been to in the past, but I definitely learned a lot both as a speaker and an attendee. 

Here is what I learned:

• Young people from all over Europe and Asia do not have the same support and resources as those in the US. In fact, I met some who still have to hide HD in their family or country because of the stigma behind the disease.
• HDYO participated in many sessions included our staff or board members as speakers.
• We need to continue to get to areas around the world who need our support while also connecting them with other young people going through similar challenges
• Young people’s voices are being heard more and more at these conferences. Not only did Matt and I speak at different sessions, but other young people spoke as well. We need to always include young people’s voices since they are the future leaders of the HD community!

I had the chance to share my journey in the ‘Everyday Life as an HD Gene Carrier’ session while learning about other attendees’ stories and how HD impacted their life. But what got my excited the most was my ‘boy band’ mic I got to wear during the Debate Session about Confidentiality in Huntington’s Disease since I didn’t get the chance to wear one during my TEDx talk.

But in all seriousness, I am hear as another young person impacted by HD who wants to help others by connecting them to the proper resources and support that HDYO provides. Don’t hesitate to reach out to connect or if you need help figuring out ways to get more involved in the HD community!

 

-Seth

seth@hdyo.org

My name is Brayan Guzmán, I’m 26 years old and this is my story, I’m from Peru and I came from an HD family, the first person to had HD was my paternal grandmother, which she had 10 children’s; at the moment 3 of them already have HD, of which 2 of them already died, my uncle and my dad.

At the beginning as any kid, I ignored what was happening, my dad started to
having symptoms when he was around his 50, back then my dad earned his
living by been a waiter, from the ignorance of the people we suffer rejection
and offensive comments such as “your father is drunk, and he can’t work”. In
my country this is a not well-known disease; as we know this is a degenerative
disease, so my mother and I were my dad’s caregivers, those were some long
and difficult times, times of many fights and it wasn’t easy at all, but thanks
to that I’ve learned so much and I’ve grown as a person. My dad died 6
months ago, at the beginning his death wasn’t easy but I know he is proud of
me up there.

So I’m here standing strong with my mom and brothers getting thru; around
a year ago I meat an aunt from my dad’s distant family, she is a social worker,
and thanks to her I’ve got the opportunity to live one of the best experiences
in my life, traveling to Colombia – Barranquilla and meet associations such as
HDYO, which works with young people from HD families, Factor H and many
others, of which I’m really grateful for the experience, I met many young
people from different countries of Latin America, with different stories but
with something in common, HD.

Today I know that I’m not alone, and that we are a family, united and fighting
for one cause. I’m thankful for all this people I’ve met, for the experience
I had, and for the work they do for such a good cause as this. I’m willing to
work for my family and people with few resources with HD in my country.

In Spanish:

Mi nombre es Brayan Guzmán tengo 26 años y está mi Historia soy de Perú
vengo de una Familia con la enfermedad Huntington la primera persona que tuvo´ la enfermedad es mi abuela paterna la cuál tuvo 10 hijos; de ellos por el
momento la padecén 3; 2 de ellos ya fallecierón mi tío y mi papá.

Pues al principio como un niño en ese entonces yo ignoraba está
enfermedad mi padre comenzo a presentarce la enfermedad al rededor
de los 50 años mi papá en ese entonces se ganaba la vida trabajando de
mozo; de parte de la ignorancia de la gente recibio rechazo y
comentarios ofensivos “Como que mi papá estaba borracho y no lo
dejaban entrar al trabajo”. En mi país es una enfermedad poco conocida;
como sabemos es una enfermedad degenerativa; mi madre y yo fuimos los
cuidadores de mi padre fuerón tiempos largos y dificiles por la cual hemos
pasado tiempos de mucha lucha y que no es fácil para nada pero gracias a
eso e aprendido mucho y a crecer como persona mi papá fallecio hace 6
meses lo cual en un principio no fue fácil su partida pero se que desde arriba
está orgulloso de mi.

Pero estoy aquí fuerte con mi madre y hermanos saliendo adelante; hace 1
año aproxima por familia lejana de papá que biene a ser una tía lejana y ella
es trabajdora social es a través de ella que vivi una de las mejores
experiencias de mi vida viajar a Colombia – Barranquilla y conocer a
organizaciones como HDYO está organización trabaja con jovenes de familias
con Huntington, Factor H y otras; las cuales les estoy muy agredecidos por la
experiencia y conoci a jovenes de diferentes países de latinoamérica; con
Historias distintas pero con algo en común la enfermedad de Huntington.
Hoy se que no estoy sólo y que somos una Familia unidos y luchando por una
causa. Agredecer ante todas esas personas por la experiencia y la labor que
tienen tan bonita como está. Estoy dispuesto a trabajar por mi familia y
personas de excasos Recursos con la enfermedad en mi país.

 

Media Release

Basel, 03 August 2018

PRIME designation granted by European Medicines Agency for RG6042 for treatment of Huntington’s disease

• European Medicines Agency PRIME (PRIority MEdicines) status is granted to medicines that may offer a major therapeutic advantage over existing treatments, or benefit patients without treatment options
• RG6042 has the potential to be the first therapy targeting the underlying cause of Huntington’s disease, a fatal neurodegenerative rare disease
• Third PRIME designation for a Roche medicine

Roche (SIX: RO, ROG; OTCQX: RHHBY) today announced that the European Medicines Agency (EMA) has granted PRIME (PRIority MEdicines) designation for the company’s investigational medicine RG6042 (formerly known as IONIS-HTTRx) for the treatment of people with Huntington’s disease (HD). RG6042 has demonstrated its ability to reduce the toxic mutant huntingtin protein (mHTT), which is believed to be the underlying cause of HD, in a Phase I/IIa study.¹ PRIME is a designation implemented by the EMA to support data generation and development plans for promising medicines, providing a pathway for accelerated evaluation by the agency, and thus potentially enable them to reach patients earlier.²

“We are very pleased that the European Medicines Agency has granted PRIME designation for RG6042, as there is an urgent medical need to find treatment options for families affected by Huntington’s disease,” said Sandra Horning, MD, Roche’s Chief Medical Officer and Head of Global Product Development. “Preliminary data on RG6042 were the first to show that levels of toxic mutant huntingtin protein can be lowered in adults with Huntington’s disease, and we are working closely with the EMA and other health authorities to initiate a global phase III study as soon as possible.”

PRIME designation for RG6042 is primarily based on the data from an exploratory Phase I/IIa trial of RG6042 that demonstrated a significant reduction in mHTT, which breaks down the nerve cells in the brain.¹ The study demonstrated a mean 40% (up to 60%) reduction of the specific HD protein in the cerebrospinal fluid (CSF) of adult patients treated with RG6042 for three months at the two highest doses. Furthermore, levels of mHTT measured in the CSF were still declining in the majority of treated patients (~70%) as of the last measurement in the study.³ RG6042 was well tolerated in this short initial study.¹ These data were shared at the CHDI 13th Annual HD Therapeutics Conference in March 2018,³ and updated results were presented at the American Academy of Neurology (AAN) Annual Meeting in April 2018.⁴

Roche will initiate a pivotal phase III study to evaluate RG6042 in a larger patient population to further characterise the safety profile and determine if it can slow the progression of HD in adults.

About RG6042

RG6042 is a second-generation modified antisense oligonucleotide (ASO) designed to reduce the production and levels of mHTT protein by targeting human HTT mRNA.⁵ RG6042 is the result of a comprehensive drug discovery programme between Roche and Ionis Pharmaceuticals focused on optimising the potency, specificity and tolerability of an ASO targeting human HTT mRNA. RG6042 is the most advanced compound in clinical development to target toxic mutant huntingtin protein (mHTT), which is believed to be the underlying cause of HD. Treatment with RG6042 has the potential to slow or stop disease progression in all people with HD.¹

About Huntington’s disease

Huntington’s disease is a rare genetic, progressive condition that causes the nerve cells in the brain to break down, which severely affects a person’s everyday functions such as mobility and thinking.⁶ It has a devastating impact on people living with the disease, and the hereditary nature of HD means it profoundly affects entire families.⁶ As the disease progresses, people with HD may develop personality changes, difficulty walking and swallowing, as well as having a significant cognitive impact.⁶ Survival ranges from approximately 10-20 years following motor onset of the disease.⁶

There is no known cure for HD and no approved therapies that treat the underlying cause. The estimates for the number of people affected by Huntington’s vary between geographic regions. Huntington’s disease is the most common monogenic neurological disorder in the developed world, with an estimated prevalence of ~3.5–7/100,000 in North America, Western Europe, and Australia.⁷

About Roche in neuroscience

Neuroscience is a major focus of research and development at Roche. The company’s goal is to develop treatment options based on the biology of the nervous system to help improve the lives of people with chronic and potentially devastating diseases. Roche has more than a dozen investigational medicines in clinical development for diseases that include multiple sclerosis, Alzheimer’s disease, spinal muscular atrophy, Parkinson’s disease, Huntington’s disease and autism spectrum disorder.

About Roche

Roche is a global pioneer in pharmaceuticals and diagnostics focused on advancing science to improve people’s lives. The combined strengths of pharmaceuticals and diagnostics under one roof have made Roche the leader in personalised healthcare – a strategy that aims to fit the right treatment to each patient in the best way possible.

Roche is the world’s largest biotech company, with truly differentiated medicines in oncology, immunology, infectious diseases, ophthalmology and diseases of the central nervous system. Roche is also the world leader in in vitro diagnostics and tissue-based cancer diagnostics, and a frontrunner in diabetes management.
Founded in 1896, Roche continues to search for better ways to prevent, diagnose and treat diseases and make a sustainable contribution to society. The company also aims to improve patient access to medical innovations by working with all relevant stakeholders. Thirty medicines developed by Roche are included in the World Health Organization Model Lists of Essential Medicines, among them life-saving antibiotics, antimalarials and cancer medicines.

Roche has been recognised as the Group Leader in sustainability within the Pharmaceuticals, Biotechnology & Life Sciences Industry nine years in a row by the Dow Jones Sustainability Indices (DJSI).

The Roche Group, headquartered in Basel, Switzerland, is active in over 100 countries and in 2017 employed about 94,000 people worldwide. In 2017, Roche invested CHF 10.4 billion in R&D and posted sales of CHF 53.3 billion. Genentech, in the United States, is a wholly owned member of the Roche Group. Roche is the majority shareholder in Chugai Pharmaceutical, Japan. For more information, please visit www.roche.com.

All trademarks used or mentioned in this release are protected by law.

References

1. Ionis Pharmaceuticals. 2018. Press release: IONIS-HTT Rx (RG6042) top-line data demonstrate significant reductions of disease-causing mutant Huntingtin protein in people with Huntington’s disease. [Internet; cited 2018 July]. Available from: http://ir.ionispharma.com/node/23401/pdf
2. European Medicines Agency. PRIME Designation. [Internet; cited 2018 July]. Available from: http://www.ema.europa.eu/ema/index.jsp?curl=pages/regulation/general/general_content_000660.jsp&mid=WC0b01ac05809f8439.
3. CHDI 13th Annual HD Therapeutics Conference 2018. Press Release: Ionis Pharmaceuticals Licenses IONIS-HTT Rx to Partner Following Successful Phase 1/2a Study in Patients with Huntington’s Disease. [Internet; cited 2018 July]. Available from: https://chdifoundation.org/ionis-pharmaceuticals-licenses-ionis-htt-rx-to-partner-following-successful-phase-12a-study-in-patients-with-huntingtons-disease/. (Data on file)
4. Ionis Pharmaceuticals. 2018. Press release: New Data from IONIS-HTT Rx Phase 1/2 Study Demonstrates Correlation Between Reduction of Disease-causing Protein and Improvement in Clinical Measures of Huntington’s Disease. [Internet; cited 2018 July]. Available from: http://ir.ionispharma.com/node/23661/pdf.
5. Leavitt B, Tabrizi S, Kordasiewicz H et al. Discovery and early clinical development of ISIS-HTTRx, the first HTT-lowering drug to be tested in patients with Huntington’s disease (PL01.002). Neurology 2016;86(Suppl. 16):PL01.002. [Internet; cited 2018 July]. Available from: http://n.neurology.org/content/86/16_Supplement/PL01.002.
6. NHS Choices. Huntington’s disease: Overview. [Internet; cited 2018 July]. Available from: https://www.nhs.uk/conditions/huntingtons-disease/.
7. Rawlins M, et al. The Prevalence of Huntington’s Disease. Neuroepidemiology 2016;46:144-153.

The main reason that agreed to help Matt start HDYO, was because I lived through everything that young people go through while in a family impacted by HD.  I watched my Mom slowly progress which resulted in a somewhat dysfunctional family situation.  I endured the struggles telling friends and a community about the difficulties of HD.  I experienced the emotional rollercoaster of my sister and I both being at-risk.  I’ve had to say goodbye to my Mom and many other HD family friends that we have met along the way. 

These times weren’t easy, but there were a few happenstance occurrences that I was brought upon that changed my outlook from a young age which brought me the support and education that I needed  to stay focused and positive on life’s journey.  One of these occurrences was my parents encouraging our family to get involved in our local HD non-profit which turned into holding and annual fundraiser called a hoopathon.  We held the event for 15 years and over that time I used the Hoopathon as a PLATFORM.  It was a PLATFORM to provide me the opportunity to talk about HD to my friends.  A PLATFORM for my friends to show me support. A PLATFORM to meet other families with HD.  A PLATFORM that provided me more knowledge about HD.  Without the Hoopathon, where would I be?  I really have no idea. 

Not everyone has a hoopathon PLATFORM spring up at a young age and that is why HDYO was needed.  We created HDYO to provide the support and education young people need, but to also allow any young person around the world to use HDYO as their own PLATFORM.  A way to get involved in a cause and fight back against the disease.  A PLATFORM that provides opportunities to advocate, volunteer your skills, host an event, volunteer your time etc.

We have people all around the world who use HDYO as a PLATFORM in a variety of ways: to translate our website and materials into new languages, write news articles, hold fundraising events, produce school projects, donate time for our board of directors, volunteer at our international camps, organize our e-newsletter, manage our social media accounts etc.

My family doesn’t host the hoopathon anymore so I have shifted my platform to my HDYO responsibilities.  These efforts have changed over the years, but have always aligned with what I am currently able and willing to do.  Today, as the volunteer chairman, I give back what time/energy I am able into trying to put a strategic vision for HDYO into place. It’s a spot I currently enjoy, but my favorite part of the role is finding opportunities for others to join the HDYO or other HD platforms.  Seeing young people living happier and healthier lives by getting involved!

Do you have any ideas on how you can use HDYO as a PLATFORM?  I (and our team) am always here to have a discussion and throw ideas around to figure out the best opportunity.  Shoot me an email or give me a call anytime.

 

 

 

 

-BJ Viau

BJ@HDYO.org

I’m pretty excited about our next trip, which will be to Colombia from July 3^rd-11^th. We have put together a training event for almost 30 young people from across South America to attend. The event, on the 5^th and 6^th, will focus on looking at the support currently available to young people impacted by HD in each country in South America and then we will develop plans as a group to improve support for young people. It is our first major move in South America, I attended a world congress in Brazil some years ago and visited some local families in Feira Grande, Brazil, but this event has the potential to really give us some plans to work on for young people in South America. It’s an area we haven’t done much in yet and they need plenty of support, so we are very excited to see what we can do.

After our training event there will be a family conference run by Ignacio from Factor-H which we are partnering on this whole event with. The conference will see lots of professionals giving talks for family members and will be a good opportunity for families to learn more about HD and what’s going on in research. After the conference we have some opportunities to visit local HD families in Colombia and spend a day with children from HD families at a Factor-H organised get together. Lots of valuable time to be spent focusing on the needs of young people in South America, and that makes me very happy. Here’s to a good trip!

Mental health is always a hard topic to tackle, not just with young people, but with humans in general.  So often we are taught that we need to “toughen up” and that we should pretend that nothing is wrong even when we are struggling the most.  Historically, we sent people with severe mental disorders away and shunned the rest of mainstream society.  Decades of this behavior gave mental health a stigma and almost legitimized the claim that it was something that one could control and just “snap out of.”

Although things have changed quite a bit, mental health can be a hard thing to discuss.  The National Association of Mental Illness (NAMI) estimates that 20% of young people and adults experience mental health issues at some point in their life.  Although that number doesn’t seem huge, when you put it in the perspective of 1 in 5 people will experience mental health concerns in their life it seems a bit more common.  I say all this to say that struggling with mental health issues – depression, anxiety, eating disorders, mood disorders, post-traumatic stress and many others – is quite common and something we should ALL be comfortable talking about.  It is so easy to have something wrong physically and head to the doctor, but humans seem to be much more hesitant when they can’t name the issue or they know that something just “isn’t right.”

Since we can’t always put on finger on what’s wrong, it can seem easy to run to the doctor and get a pill to make us feel better.  Sometimes that is needed, but often we skip over trying to identify   Talking about the things that we are most afraid is probably the scariest thing one can do.  Opening ourselves up and being honest about what we are thinking and feeling leads us to feel vulnerable.  We are often taught that being vulnerable (many hear it as weak) is a bad thing, but opening ourselves up; being honest about what is going on and seeking someone that can help us mend whatever it is that is going on is the bravest thing we can do.

I encourage anyone reading this to reach out and ask for help if you are struggling and feeling alone.  You are not alone and the more we can all face our fears and talk about mental health issues, the more common it will become and, hopefully, less terrifying.  Use your voice, be brave, face what you fear because you deserve to live your best life.

I had the honor to attend ENROLL HD’s Inaugural International meeting earlier this week to represent HDYO and all the young people in families impacted by HD.  I was joined by my colleague/friend, Cat Martin, HDYO’s Executive Director.  The conference took place Sunday May 20 through Tuesday May 22 in Quebec City Canada.  I was astounded to see over

 500 leaders in research attend

from around the world to come and collaborate!

 

I am a current participant of Enroll HD (4-5 years) and have been involved in almost any other study that will take me over the years; COHORT, PREDICT, Exercise HD and multiple other qualitative surveys.  Are you a participant in any HD studies?  Email me if you want to participate in research, but don’t know where to start or I’d love to learn what research anyone is participating in and how your experience is going.  BJ@HDYO.org

 

Part of my obligation of attending is to make sure I relay what I learn at these conferences back to the community so here were my quick takeaways……

• Enroll HD is much more than just an observational registry.  It has transformed into an international platform with multiple research studies and resources all with strategic vision to help find treatments for HD….faster!
• Recruitment is continuing to be on the rise with over 17,000 participants from over 150 sites and 15 countries. The study is still looking for more participants!!!
• An Enroll Lite is being rolled out soon to help participants who may be having trouble traveling into clinic because of symptom progression. The visits will either be shorter (45 minutes) or conducted over a phone call (30 minutes)
• There is an add on, Young Adult Study (HD YAS) being conducted in the UK looking for young adults to participate. There is an optional spinal tap done.  As of today 100% of the participants who are in HD YAS have agreed to do spinal tap….you all rock!!!
• There is still an unexplained variance for symptom onset that has yet to be figured out, but the data from Enroll HD is working to figure this out. These details could help us understand how to potentially delay onset regarding food/drinks we consume to exercise to other variables.
• From study coordinators, to the principal investigators, to data scientists to HD families, there is a lot to be proud of thus far, but still a lot more to do.
• Quebec City is a fun little town full of European character that I would highly recommend anyone visit for a weekend. Great food and beautiful scenery!
• The younger generation in HD families continues to be the focus of the future. Treatment talks continue to be progressing to find treatment options before symptoms ever start occurring.  HDYO is working to find new ways for young people to provide their voice into this conversation so the people working on the treatments are working on treatments that we all want.  Look for a few new research collaborations to be launched by HDYO soon!!!

Can I answer any questions about the meeting or about the strategy that HDYO plays in this puzzle to find better treatment options?  Shoot me an email….BJ@HDYO.org

 

 

Thanks for reading,-BJ @ HDYO

 

 

 

 

Below are a few pictures from the conference

 

 

As it’s my turn for a blog post I wanted to dedicate this post to a family in need of your support and well wishes at this time. Last week, the Boulavsky family in the US had a very traumatic experience. We know the family as their 3 sisters have all been to our North American camp with the eldest, Erika, having been a volunteer for us at camp for the past two years. Unfortunately, last week their mother, Elaine, and youngest sister, Khrysta, were trapped in their apartment on the 3^rd floor by a fire spreading throughout the building. They both bravely jumped from the 3^rd floor of the building knowing it was their only option as all other exits were cut off by the fire. Thankfully both survived the fall and have been in hospital having operations ever since. Both suffered major injuries and were critical for a while but are now on the road to recovery. This is the 2^nd fire they have had in that apartment in 5 years, they lost their dog in the most recent fire as well as all their furniture, clothes etc. They also now have medical costs to cover. Khrysta is getting married in December. Elaine has also been battling cancer.

We would like to send our thoughts to the Boulavsky family at this difficult time and we hope Elaine and Khrysta recover well and get out of hospital soon. They all need your well wishes and support at this time. If you can donate there is a Gofundme page set up for them:

https://www.gofundme.com/ajumptosurvival

Thank you!

2018 started with a whirlwind of hope after the December announcement from Ionis that their trial of the Huntingtin Lowering drug Ionis-HTTRx was safe and well tolerated.  In Feb 2018 our Chairperson BJ Viau represented HDYO at the CHDI Palm Springs Therapeutics conference where the data from the trial was being presented by Prof Sarah Tabrizi.

Here is the video from the conferences with all the information about the latest research and opportunities, including an interview with BJ and a very brief appearance by Cat.  Postcard from Palm Springs & Malta

The main message is that the whirlwind looks likely to continue but for now we need to be patient, manage our expectations and get involved in anyway you can.