First HD patients enrolled in Roche/Genentech studies

Roche/Genentech announced today that they have enrolled the first patients in the HD Natural History and Phase III GENERATION HD1 clinical studies. The following press release gives an update on the RG6042 Huntington’s disease (HD) program.

28 January 2019

Update on RG6042 Huntington’s disease (HD) programme: First patients enrolled in HD Natural History and Phase III GENERATION HD1 clinical studies

Dear Global Huntington’s Community,

Just over one year ago, we and our partner Ionis Pharmaceuticals announced the results of thefirst ever study that tested the huntingtin-lowering scientific hypothesis. Today, we are pleased to announce that the first patient has entered into the GENERATION HD1 clinical study – a pivotal, global Phase III study to investigate the efficacy and safety of RG6042 (formerly known as IONIS-HTTRx). If this clinical study is successful, it is our hope that RG6042 will be approved by health authorities and made available for the treatment of manifest Huntington’s disease.

We are grateful to the patients and family members participating in clinical research, as well as everyone supporting them in the broader HD community. Scientific progress is only possible with your collaboration and participation.

Recent updates

  • Two global clinical studies have started, and first patients are enrolled – an important achievement for the research programme; study status is available on
  • HD Natural History study (NCT03664804)
    • This observational study for early manifest HD will run in the USA, Canada, Germany and the UK; planned study sites were announced in late 2018.
    • Initial sites have opened, and the first patients have enrolled; our team continues to work to open recruitment at all study sites as quickly as possible.
  • Phase III GENERATION HD1 study (NCT03761849)
    • We received health authority approvals in the USA and Canada to start this pivotal study for manifest HD. Planned study sites for those countries were announced at the end of 2018 and the first patient has now enrolled.This study will run in approximately 15 countries; we are diligently working to set up study infrastructure and receive approvals in the remaining countries.
    • Ongoing open-label extension of the Phase I/IIa study: sponsorship has been transferred from Ionis to Roche.
    • Patients who completed the Phase I/IIa study have been participating in an open-label extension study sponsored by Ionis (NCT03342053). Responsibility of this study has now transferred to Roche. Moving forward these patients will roll into a new Roche-sponsored, open-label extension study called GENEXTEND. GENEXTEND will allow us to continue to study longer-term effects of RG6042 in those participants who have previously completed a clinical trial for the investigational molecule.

Important to note

  • At this time, access to RG6042 is only through clinical studies because the benefits and risks of RG6042 are not yet fully understood.
  • Additional countries/sites for the Phase III study: Information about additional countries/sites will be announced on a progressive basis, once sites are nearly ready to enroll participants; information will be posted on
  • Communications about study data: Roche is committed to transparent and timely communications, as well as ensuring the integrity of ongoing clinical trial operations and data collection. In line with our Global Policy on Sharing of Clinical Study Information, we will share overall programme updates and relevant data from completed and ongoing clinical studies with the scientific community via appropriate channels (e.g., scientific meetings, peer-reviewed journals, etc.).

Our team recognises that the need in HD is greater than the capacity of the RG6042 development programme, and that not every person nor every capable HD centre interested in these clinical studies will be able to participate. We can assure you that the studies are designed to provide health authorities with the required data so that the benefit-risk of RG6042 can be determined as quickly as possible. The ultimate goal is that this investigational medicine can be approved by health authorities and made accessible to the broader HD community.

Our team continues to engage with health authorities and HD communities around the world on the RG6042 research programme. We look forward to providing you with further updates.


Mai-Lise Nguyen, on behalf of the Roche & Genentech HD team

Patient Partnership Director, Rare Diseases

Roche Pharma Research & Early Development / Roche Innovation Centre Basel, Switzerland

Frequently asked questions and answers

What is the HD Natural History study?

This 15-month observational study aims to further understand the role of mutant huntingtin protein in disease progression, including how levels of mHTT change over time in the absence of any drug treatment. There is no drug treatment in this study. This study will include up to 100 participants with early manifest (Stage I and II) HD. For all patients who complete the HD Natural History study, an open-label extension study with the option of receiving RG6042 (no placebo control) is planned, pending eligibility, approval by Authorities and Ethics Committees/Institutional Review Boards and if data support the continued development of RG6042.

The HD Natural History Study will run at up to 17 sites in Canada, Germany, the United Kingdom and the United States. For more information about the study/trial sites visit or contact the local Roche Medical Information team:

● Germany: (+49) 07624-14-2015

● UK: (+44) 0800 3281629 or

● Canada & United States of America: (+1) 888-662-6728

What is the Phase III GENERATION HD1 study?

The GENERATION HD1 study will evaluate the efficacy and safety of RG6042 treatment for manifest HD. The study will run over a period of 25 months (approx. two years). GENERATION HD1 is designed to determine whether RG6042 is safe and effective, and therefore includes a comparison to placebo. Participants will be randomised to one of three treatment study arms: RG6042 monthly, RG6042 once every two months (bi-monthly) or placebo monthly. This means for every two participants randomised to RG6042, one will receive placebo. The study is “double-blinded,” meaning neither the participant nor his/her investigator or site staff will know which study arm the participant is assigned.

For all patients who complete the GENERATION HD1 study, an open-label extension study with the option of receiving RG6042 (no placebo control) is planned, pending eligibility, approval by Authorities and Ethics Committees/Institutional Review Boards and if data support the continued development of RG6042.

The GENERATION HD1 study will enroll up to 660 patients with manifest HD at 80-90 sites in approximately 15 countries around the world. Planned sites have been announced for Canada and the United States of America. For more information about the study/trial sites, visit or contact our Clinical Trial Information Support Line for the USA and Canada at (+1) 888-662-6728. Information about additional countries/sites involved in the study will be announced, as those details are finalised.

How are the clinical study sites selected?

A variety of factors influence site selection, including assessments on experience with HD studies, clinic infrastructure capacity to run the study as well as usual site activities, ability to operationalise the study as quickly and completely as possible, patient population, and geographic location.

What if there is not a study site near where I live? Can I relocate to participate in a study?

Clinical studies are subject to international, national and local laws and regulations. Additionally, factors such as institutional site policies, health insurance and travel burden may impact your ability to relocate and be accepted into one of the study sites. Eligibility and enrollment are decided by the study investigator at each site, who takes into account all these factors and may also wish to speak to you or your local HD specialist for more information. Whether your HD centre is selected for participation or not, this is no reflection on the quality of the many outstanding HD clinics and dedicated care providers around the world. The need in HD is greater than the capacity of our development programme. We have designed the programme to provide the required data to health authorities so that the benefits and risks of RG6042 can be determined as quickly as possible. Our ultimate goal is that this investigational medicine can be approved by health authorities, and made accessible to the broader HD community.

Can I access RG6042 outside of clinical studies?

Currently, access to RG6042 is only through clinical study participation because the benefits and risks of RG6042 are not yet fully understood. This means that we are not able to grant pre-approval, compassionate use or “right-to-try” requests at this time. As our understanding of the benefits and risks of RG6042 grows, we will regularly evaluate this position.

Your clinical studies are in early manifest and manifest HD. Will you study RG6042 in other patient populations (e.g., juvenile onset HD or prodromal HD)?

We recognise the critical medical need for a treatment for HD, especially for people living with severe forms like juvenile onset HD. Once there is sufficient scientific and safety rationale, our team will consult with HD community experts and explore the potential use of RG6042 in populations beyond manifest HD.

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uniQure Announces FDA Clearance of Investigational New Drug Application for AMT-130 in Huntington’s Disease

uniQure Announces FDA Clearance of Investigational New Drug Application for AMT-130 in Huntington’s Disease

~ AMT-130 Poised to Become First AAV Gene Therapy to Enter the Clinic for Huntington’s Disease ~

~ Lead Product Candidate from Company’s Proprietary miQURE™ Gene Silencing Platform   ~

LEXINGTON, Mass. and AMSTERDAM, the Netherlands, Jan. 22, 2019 — uniQure N.V. (NASDAQ: QURE), a leading gene therapy company advancing transformative therapies for patients with severe medical needs, today announced the U.S. Food and Drug Administration (FDA) has completed its review of the Company’s Investigational New Drug (IND) application for AMT-130, and the IND is now effective, allowing uniQure to begin its planned Phase I/II study. AMT-130 comprises a recombinant AAV5 vector carrying a DNA cassette encoding a microRNA that non-selectively lowers or knocks-down human huntingtin protein in Huntington’s disease patients.

“The FDA’s clearance of our IND for AMT-130 is a significant milestone for Huntington’s disease patients and an important event in the field of gene therapy,” said Matt Kapusta, chief executive officer at uniQure. “We expect that AMT-130 will be the first one-time administered AAV gene therapy to enter clinical testing for the treatment of Huntington’s disease, a devastating neurodegenerative disorder for which there is no approved disease-modifying treatment.

“AMT-130 also represents the first clinical-stage AAV-based therapy specifically designed to silence an abnormal gene in the brain with a single administration, and we believe our proprietary miQURE™ gene silencing platform has the potential to be applied to many other diseases, such as spinocerebellar ataxia type 3 (SCA3),” continued Mr. Kapusta. “This achievement is a major milestone for uniQure’s research organization, who have dedicated years of effort with the hope we can one day offer treatment for the many patients waiting generations for an effective therapy.”

FDA clearance of the IND enables uniQure to initiate its planned dose-escalating, randomized and controlled Phase I/II clinical trial to assess the safety, tolerability and efficacy of a one-time treatment of AMT-130 in patients with Huntington’s disease. uniQure expects to open several clinical sites in the United States and begin dosing patients in the second half of this year.  

About Huntington’s Disease
Huntington’s disease is a rare, inherited neurodegenerative disorder that leads to loss of muscle coordination, behavioral abnormalities and cognitive decline, resulting in complete physical and mental deterioration. The disease is caused by an autosomal dominant mutation, CAG repeat expansion in the first exon of the huntingtin gene, that leads to the production of a mutated protein that aggregates in the brain. Despite the clear etiology of HD, there are no therapies available to treat the disease, delay onset, or slow progression of a patient’s decline.

About uniQure
uniQure is delivering on the promise of gene therapy – single treatments with potentially curative results. We are leveraging our modular and validated technology platform to rapidly advance a pipeline of proprietary and partnered gene therapies to treat patients with hemophilia, Huntington’s disease and other severe genetic diseases.

uniQure Forward-Looking Statements

This press release contains forward-looking statements. All statements other than statements of historical fact are forward-looking statements, which are often indicated by terms such as “anticipate,” “believe,” “could,” “estimate,” “expect,” “goal,” “intend,” “look forward to”, “may,” “plan,” “potential,” “predict,” “project,” “should,” “will,” “would” and similar expressions. Forward-looking statements are based on management’s beliefs and assumptions and on information available to management only as of the date of this press release. These forward-looking statements include, but are not limited to, the achievement of any of our planned near term or other milestones, our ability to become the first AAV Gene therapy for Huntington’s Disease to begin clinical trials, our ability to initiate our planned dose-escalating, randomized and controlled Phase I/II clinical trial, our ability to open several clinical sites in the United States and begin enrolling patients in the second half of this year or ever, the development of our gene therapy product candidates, the ability to achieve therapeutic or curative effects in human patients in any of our product candidates, whether our proprietary miQURE™ gene silencing platform can be applied to any other diseases, such as spinocerebellar ataxia type 3 (SCA3), the ability to produce a product candidate that is safe and effective, the ability to obtain regulatory approval for any of our product candidates, and the risk of cessation, delay or lack of success of any of our ongoing or planned clinical studies and/or development of our product candidates. Our actual results could differ materially from those anticipated in these forward-looking statements for many reasons, including, without limitation, risks associated with our and our collaboration activities, product development activities, corporate reorganizations and strategic shifts, regulatory oversight, product commercialization and intellectual property claims, as well as the risks, uncertainties and other factors described under the heading “Risk Factors” in uniQure’s Annual Report on Form 10-K filed on March 14, 2018 and Quarterly Report on Form 10-Q filed on November 6, 2018. Given these risks, uncertainties and other factors, you should not place undue reliance on these forward-looking statements, and we assume no obligation to update these forward-looking statements, even if new information becomes available in the future.

uniQure Contacts:

Maria E. Cantor   Eva M. Mulder   Tom Malone
Direct: 339-970-7536   Direct: +31 20 240 6103   Direct: 339-970-7558
Mobile:  617-680-9452   Mobile: +31 6 52 33 15 79    Mobile:339-223-8541
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You Pay the Higher Cost

You Pay the Higher Cost

by Sharon Quigley

Caregivers of people with Huntington’s disease often feel lonely, even when they’re with their loved ones. Sharon Quigley uses poetry to express the loneliness she feels even when she’s with her husband, Ken. While recognizing that the disease is much more costly for the person with HD, she knows that Huntington’s affects both the caregiver and the person with HD.

Ken and Sharon Quigley, attending a wedding last summer

I wish that there was more of you
Just like there used to be,
But now I feel so lonely
Even when you’re next to me.
I look so deep into your eyes
And it looks like you are lost,
I know between the two of us, 
You pay the higher cost.
Remember times we’d sit and talk
Of some current world affair?
Now when I try to speak to you
All I get is your despair.
We used to sit along the beach
And watch the world go by
We’d live forever, you and I,
Never thinking we would die.
Many years have come and gone
And still our love is strong
But I don’t feel you here with me,
Something is very wrong.
Now when we sit and watch tv
I feel a chill and frost
I know between the two of us, 
You pay the higher cost.
So many times, I feel alone
And yet, there you sit.
I wish that there was more of you
I miss your charm and wit.
The disease, you see, affects us both.
At times, we are both lost,
But I know between the two of us, 
You pay the higher cost.

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Holiday Gift Ideas

For People With HD/JHD & Their Caregivers

By Lauren Holder

Figuring out what to get someone who has Huntington’s disease can become more and more difficult as the disease progresses.As promised, here is a list of great gift ideas for a person with HD/JHD, as well as some ideas for the caregivers! Happy Holidays!

Lauren’s Favorites

  1. This coupon is good for a free foot rub, or
  2. A free hair wash and style,
  3. A free nail-coloring session,
  4. An afternoon walk,
  5. A picnic lunch,
  6. A reading from a favorite book, out loud,
  7. An afternoon ride to the ocean (lake, park, etc.)

Other Great Ideas

  • Chapstick (a good stocking stuffer item!)
  • Slipper socks with ‘treads’ on the bottoms
  • Funny, colorful socks
  • Handwarmers
  • Gloves, winter hat, and/or scarf
  • Nightlights
  • Purifying Salt Lamp
  • Essential oil diffuser
  • Motion detector lights inside and outside the home
  • Electric toothbrush
  • Memorabilia from favorite sports team(s)  (i.e., jersey, t-shirts)

***Most of these were found on

For the Caregiver

  • Gift certificate to a local cleaning service
  • Hire a Virtual Assistant for an hour or two every month to help with staying organized.
  • Create a break for the caregiver! Schedule it, make the plans for them, oversee the help (i.e., getting a manicure or having lunch with a friend).
  • “Host the holidays” – Decorate the inside and outside of the home, take care of the planning or the cooking, etc.
  • “Tickets of Love” (See above.)

***Please check out for these and other ideas for caregivers!***

You can also listen to Help 4 HD’s archived program about gift giving on BlogTalkRadio. Listen to Katie Jackson and Lauren Holder’s discussion at

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Surviving the Holidays

Surviving the Holidays

  by Lauren Holder

Happy holidays! ‘Tis the season to be stressed. At least that’s how it feels for me, so I decided to do some digging this year and find some tips for surviving the holidays.

I found some really great articles about caregiver tips for the holidays, and I figured I would share my top five tips with you.

  1. Be flexible! There is no such thing as perfection. I think in every article I read, it notes to not expect everything to go right or to be perfect, because it won’t be. So we need to be flexible and willing to adjust with the issues and changes that arise.
  2. Make a holiday calendar and to-do list (Beal, n.d.). This is helpful to both the caregiver and the person with HD. I know for my father, it helps him to know what to expect, so to speak. If he can look at what’s coming up, he prepares a little better mentally; if we spring it on him the day of or the day before, then he’s unwilling to go because it’s a last-minute change in his routine. It also helps my mom because she knows what she needs to prepare for him (and for her) before the event.
  3. Start new traditions – This one has to be my favorite! The article from AARP says, “Instead of focusing on losses and what you and/or your loved ones aren’t able to do this year, try doing something new. If your care recipient has trouble getting around, drive through a holiday light display or watch a holiday concert on TV. If you can’t make it to a holiday gathering, have a video chat. Are your loved ones unable to participate in decorating this year? Invite a friend over to help, with your loved ones nearby to watch and cheer you on. Start a home holiday movie night tradition — or watch old home movies so everyone can participate.”(10 Tips for Caregivers During the Holidays, n.d.)
  4. Have a safe space. If you have a big get-together at your house, or you’re going to someone else’s house for a get-together, establish a space for you or your loved one to be able to take a break from the noise and commotion. Maybe it’s the patio outside or an empty bedroom, but have somewhere to go to relax for a minute in case you or your loved one needs to.
  5. Ask for help! This seems to be another one that can be found in EVERY article about surviving the holidays. Ask family and friends to help with cooking or wrapping or doing the shopping. This seems to be the hardest one to do, but it’s the most necessary, because we can’t survive the holidays alone.

If you would like to look at some of the other tips for surviving the holidays, you can visit the following links:

Works Cited

10 Tips for Caregivers During the Holidays. (n.d.). Retrieved from AARP:

Beal, E. (n.d.). Surviving the Holidays: Strategies for Caregivers. Retrieved from Benjamin Rose:

Lauren Holder is the program director for “Help 4 HD Live!”, the first online radio show dedicated to the Huntington’s and Juvenile Huntington’s disease community.




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I Never Thought It Would Get Better, Either

I Never Thought It Would Get Better, Either

By Leah Amberly Barker

So, this is hard for me to write about. Like really, really hard. My fingers literally try to curl up every time I go to hit a letter on the keyboard.

I need you to hear me out, though. I am writing this for you. The you that is hurting, feeling hopeless, worthless, unloved, alone, and stuck in one place. Hear me out.

A little more than a year ago, I sat alone in an old motel room, rolling a bottle of pills in between the palms of my hand. I can’t even recall the specific events that led me there, but I do remember exactly how I was feeling and exactly what I was thinking.

This will be my first time putting all of those emotions in one place. Or most of them, at least.

The most distinct emotion I remember was hopelessness. I couldn’t see a future in anybody or anything. Usually, if I’m depressed, I’m able to rapidly search my mind for something lovely to cling onto, and eventually, it helps me pull myself out. This time, I couldn’t find anything to cling onto at all. Everything in my head was just … black.

I sat on the musty motel mattress for hours, listening to music I remembered as being my favorite and trying to justify what I was about to do.

I remember thinking that having HD was going to ruin my life. I wanted to have complete control over my brain, and just knowing that I would have to lose myself someday left me feeling like I wasn’t a legitimate human being. And it wasn’t even myself I was mostly worried about … it was the fact that in losing myself, I would probably end up hurting the people I loved the most.

My grandfather was the sweetest man I’d ever met until he got sick. When he did get sick, I’d hear stories about how he’d threaten my grandmother and throw things at her. He began to suffer from extreme paranoia, convincing himself that my family was plotting to kill him. I never got to see him during his rapid progression into HD, but I remember thinking that I was terrified to see him when we finally got to visit. He was really sick by that time, unable to care for himself, twitching, falling, mumbling, and unfamiliar. He wasn’t the big, strong, caring papa I remembered, and the last memories I have of him are the suffering circumstances that HD threw him into.

As horrible as it sounds, I was terrified of turning into him. I have so much love to give, and it crippled me to think that I might degrade into a paranoid, angry, abusive stranger … as unintentional as it may be. I didn’t (and if I’m being honest, don’t) want to be a burden to anyone, emotionally or physically.

And if anybody loves love, it’s me. Sitting in that motel room, I thought about how badly I wanted to fall madly in love, get married while watching the sunset, pop out a whole litter of children, and grow old with the love of my life, but anyone with HD knows that it’s not that simple. My husband would eventually end up as my caretaker. He might end up really lonely while I’m sick, burdened emotionally, physically, and missing me while I’m still alive. And I have the risk of passing HD down to my children if I’m unable to afford fertility treatments.

Not to mention, I had already been suffering from debilitating depression and anxiety for years, and I couldn’t fathom those parts of my brain degrading even more, becoming worse and worse over the years. Oh, and while that’s happening, toss in some memory loss, paranoia, agitation, and whatever else my own body decides to throw in.

The only pro that I had on my list was my family and friends, but at the time, they just weren’t enough to stop me.

It’s not that I didn’t love them. On the contrary, I loved them more than anything. People HAVE to stop with the notion that suicide is selfish. Can it be? Well … sure, anything could be considered selfish, depending on how you look at it. Most of the time, though, people who commit or attempt suicide are suffering from one mental illness or another, which inhibits them from thinking rationally. In my case, I genuinely thought that my loved ones would be better off without me because I wouldn’t have to burden them.

In my head, I believed I was doing everyone a favor, including myself. It was a win-win. I absolutely, positively could not see any other way. I needed the hopelessness and despair to end. I was tired of being depressed. I was so over feeling alone.

I remember barricading the motel room door with a dresser and securely locking all of the deadbolts. The Discovery Channel played silently in the background as I emptied the first bottle, the second bottle, and then the third bottle onto the TV stand, crushing them one-by-one and mixing them together in a pile. I created a funnel from a piece of paper and sifted the mixture into a bottle of beer, swirling it around for a bit until everything dissolved. I begged God to please forgive me, told Him that I loved Him and to take care of my family, and then downed it.


Fast forward 16 months. I’m still here.

And, can I just say, thank God.

After getting out of the hospital, I felt like a baby deer trying to stand up on its wobbly legs for the first time (although the deer probably mastered walking much faster than I did).

It took time, as all good things do.

Ohhhh, that time went by so slowly, but now, I’ve got more to look forward to than I’ve ever had before. I’m in a place that I firmly believed did not exist during those dark times.

I’ve found someone who loves me with all of the baggage I carry along with me. He doesn’t have any mental or physical problems at all, yet he still does his very best to understand what I go through. He knows about HD and what may be to come, but he loves me enough to stick by my side through it all. I know he’s afraid, but he stays and loves me anyway. It blows my mind (in a good way).

Have the fears I had about HD gone away? Of course not. I think about it every day, but I figure that I may as well love the hell out of someone as passionately as I can in the meantime. I’ll love him hard enough to pierce through his memories of me in the future, when times may not be so good.

And I’ve been loving my family, friends, and everyone I can in that way, too. It feels so much better than being lost in your fears.

I have a great job, a beautiful home, and people who love me. I mean, it’s not perfect by any means, but it’s proof enough that amazing things can come from your hopelessness. I still suffer from severe lows and short-lived highs very often, but I’ve slowly been learning how to deal with it better. It doesn’t necessarily get easier, you just get stronger.

Yeah, I know, it kind of feels like you’re reading repetitive advice from some cliché writer, but if nothing else, just know that I’m all too familiar with your struggle, so you’re not alone. I never thought I’d get out, either.

Getting my life back was one of the hardest things I’ve ever had to do, but I’m here now… in all of my messy, clumsy, love-crazy, insecure, depressed, happy, struggling glory. I’m here.

You can be here with me, too.

If you or someone you know is considering suicide, please call the national suicide prevention lifeline: 1-800-TALK (8255).


This article originally appeared in Leah’s blog, “Capturing the Corners.” You can read more of her articles here:

According to the National Institute of Health, the rate of suicide, suicide attempts, and suicidal ideation among people with HD far exceeds that among the general population. 

“Suicidal ideation in Huntington’s disease: The role of comorbidity” reports that in the study conducted by the authors, 26.5% of patients in the study reported suicidal ideation, compared with 3.3% in the general population. “In a subsample with the greatest suicidal ideation, alcohol and drug abuse were also predictive.” Completed suicide in HD has been reported to be as high as 13%, a seven- to twelve-fold increase above that of the general population’s suicide rate of <1%, while 27.6% of individuals with HD reported at least one suicide attempt. (

To learn more about suicide risk factors and civil liability, please visit this link:


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Huntington’s Disease: Filing for Disability

Huntington’s Disease: Filing for Disability

By Sharon McClellan Thomason

Filing for disability and navigating the system of SSDI, SSI, Medicare, and Medicaid can be both challenging and frustrating. It’s a world we usually know little about until we plunge headlong into the journey of Huntington’s and Juvenile Huntington’s disease.

I consider myself to be a well-educated and reasonably intelligent woman, but I can tell you that helping my son file for disability and associated benefits stretched my knowledge and problem-solving skills to the limit.

Here are some things I learned along the way.

First, some simple definitions you will need to keep in mind—make these a part of your new vocabulary:

  • SSDI stands for Social Security Disability Income. This is administered by the federal government, once it’s determined that you have a disability.
  • SSI stands for Supplemental Security Income. This is administered by the Social Security Administration and is income-based, providing cash assistance and healthcare benefits (Medicaid—see below) to people with limited income and resources.
  • Medicare is a federal healthcare program. Once you’ve been on disability for two years, you are automatically eligible for Medicare. People who have worked and paid into the system are also eligible for disability upon turning 65. Medicare has Parts A, B, C, and D. Part A is hospital/hospice insurance; Part B is medical insurance that covers doctors’ visits; Part C is an optional Medicare Advantage plan; Part D is a prescription drug plan.
  • Medicaid is a state-run program for people with limited income and resources. It also covers things not normally covered by Medicare, like nursing home care and personal care services. It is funded jointly by the state and federal government, but eligibility varies greatly from one state to another. States that have granted Medicaid expansion under the Affordable Care Act are more likely to grant eligibility for Medicaid. The map here ( shows which states have Medicaid expansion. Medicaid also includes optional dental services for people over age 21.

As a basic review, SSDI and Medicare are federal programs that are not income based; SSI is a federal program that is income based; Medicaid is a state-run program that is income based.

Compassionate Allowance List and Appealing a Denial

When applying for SSDI, it is helpful to know that Huntington’s and Juvenile Huntington’s disease are included under something called the “Compassionate Allowances List,” or CAL. ( According to the Social Security Administration, “The CAL initiative helps us reduce waiting time to reach a disability determination for individuals with the most serious disabilities. The Compassionate Allowances program identifies claims where the applicant’s disease or condition clearly meets Social Security’s statutory standard for disability.”

So this should make the awarding of disability benefits automatic, right? Not necessarily. The trick to claiming this allowance is knowing where it is listed and alerting the claim worker that HD is on the CAL. Interestingly, HD can be found in two places: under ‘A,’ as Adult Onset Huntington Disease, and under ‘M,’ as Mixed Dementias, where Huntington’s dementia is listed under alternate names. It is NOT listed under ‘H.’ Juvenile Huntington’s disease isn’t so hard to find—it’s under ‘J,’ as Juvenile Onset Huntington Disease. The complete list, with links to the above named, can be found here: The listing for each includes the necessary documentation to include with your application.

When I helped my son apply for SSDI, HD was not listed on the CAL. I used the guide developed by Phil Hardt, available through the Huntington’s Disease Lighthouse Foundation (, which many families have used successfully. After a few years of severe psychiatric symptoms, a positive genetic test with a CAG of 45, and a diagnosis by a neurologist, I started the application in the summer, after school was out (I was still teaching full time). Despite following the guide precisely, the application was denied. We then had the option of appealing. By then, I was back at work and was afraid I didn’t have the time to do the appeal properly, so I hired an attorney who specializes in Social Security law. This seemed like the ideal solution since they, by law, do not require any payment up front, and receive a set payment only upon a successful appeal. I should’ve done my homework, though, as I learned that all Social Security law firms are definitely not created equal! The one I hired had me do all the work (gathering and mailing paperwork, filling out forms), and I only met the attorney once—to sign the contract. After that, I dealt with a paralegal who sometimes returned my phone calls, most often, not. I even found out that the appeal had been approved before they knew it!

My hope is that with the Compassionate Allowances, and with organizations that help you with applying for disability, you will not experience the difficulties we experienced. At one time, the Caring Voice Coalition helped people apply for disability; however a statement on their website ( says, “CVC’s disability program supports patients through the various stages of the Supplemental Security Income and Social Security Disability Insurance application process. Our patient advocates coordinate supporting evidence, assess eligibility, submit claims for benefits and draft arguments. The disability program is temporarily at capacity. We hope to begin accepting new applicants for this service soon.” Instead, they are referring people to the Huntington’s Disease Assistance Foundation and the National Organization for Rare Disorders (NORD).

Additional Benefits

Another thing I learned that evidently is not generally known is that my son, who had very limited work experience before the onset of HD, qualified for additional benefits as the “disabled adult child of a disabled adult.” The window is very limited, as defined below:

An adult disabled before age 22 may be eligible for child’s benefits if a parent is deceased or starts receiving retirement or disability benefits. We consider this a “child’s” benefit because it is paid on a parent’s Social Security earnings record.

The “adult child”—including an adopted child, or, in some cases, a stepchild, grandchild, or step grandchild—must be unmarried, age 18 or older, and have a disability that started before age 22. (

Since my son’s father had passed away from Huntington’s disease, and he had a strong work record, Randy was able to qualify for about $250 extra in SSDI benefits, more than he would have received under his own work record.

Social Security also provides something called “Extra Help” with the Medicare prescription drug plan. To see if you qualify and to apply, go here: Note: if you already receive Medicare and Medicaid or Medicare and SSI, you do not need to apply as the extra help is automatic.

As daunting as it may seem, don’t give up on applying for these benefits! If you are a person with HD, get an advocate to help you with applying. The benefits are ones to which you have a right, and they can make a huge difference in your quality of life!




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Hypersexuality and Huntington’s Disease

Hypersexuality and Huntington’s Disease

By Sharon McClellan Thomason

Of the troubling behavioral changes that occur with the onset of Huntington’s disease (HD) and Juvenile Huntington’s disease (JHD), and there are many, one of the most troublesome can be hypersexuality. It’s important to realize that this is a part of the disease, that there is no shame or embarrassment in talking about it, and that there are treatments that can help resolve the problem.

The Symptom

According to an article in Huntington’s Disease News, “Studies have found that up to 75 percent of women and 85 percent of men with Huntington’s report difficulties in their sexual relations.” (

While a loss of interest in sexual relations is openly discussed in the literature, hypersexuality and inappropriate sexual behavior are not frequently talked about. In fact, when they are discussed, they are downplayed as something that doesn’t occur very often. The same article in Huntington’s Disease News says,

Less frequently, Huntington’s disease may also cause an increased sex drive and inappropriate sexual behavior. Such disinhibition is thought to be due to damage to the caudate nucleus, a deep area of the brain that controls behavior.

Some patients may be more likely to engage in risky sexual behavior, such as one-night stands or sex under the influence of alcohol or illicit substances. It is important to always ensure that safe sexual practices are upheld, including using condoms and taking oral contraceptive pills to avoid sexually transmitted diseases and unexpected pregnancies.

Families will tell you, though, that an increased sex drive and inappropriate sexual behavior are NOT rare; it’s just rarely discussed openly, perhaps because of embarrassment.

In fact, the Journal of Neuropsychiatry and Clinical Neurosciences reports, “Psychiatric syndromes (present in up to 79% of patients) most commonly include impulse control disorders, depression, personality changes, and, more rarely, psychosis or mania. Symptoms include disinhibition, irritability, aggression, apathy, and neurovegetative markers of depression. The suicide rate has been reported to be up to 20 times that of the general population over age 50.1 Increased criminal behavior and hypersexuality have often been reported in HD patients.” (

Recently, one woman posted in a Facebook caregivers’ group, “I’ve (yet again) been approached by a Facebook friend, and my brother has been harassing women. Young, old, married, or single. He begs for dates and tells them all the same lines about how attractive they are. So far, all I know it that he compliments them ‘sexy or beautiful’ and how he dreams about them. I would be uncomfortable if a man sent these messages to me. He has been doing his for years, and it is getting more frequent. Can I report him to Facebook? He won’t listen to me. I’ve begged, yelled, and threatened, to no avail. Maybe therapy? He’s so lonely. But he’s losing the few contacts that he still has!”

Several people responded with empathy. One said, “Dealing with the same issue with my son. Like many others dealing with this disease, the impulsive behavior is out of control. I have been dealing with this for years. Sometimes it is worse than others. We deal with it as we go. I will send messages and explain the circumstances, and most people understand. As the disease progresses, there will be different things you have to deal with. This is just a stage. Look at it as unfortunately at some point they will not be able to do it at all … deal as it comes is my outlook. It’s temporary, unfortunately.”

Another commented, “I reported my ex (we have two daughters). It’s sad, but I did not want them to see it.”

One woman wrote about the potential consequences. “My son has definitely changed. His mind has taken him to all kinds of stuff … porn from women, men, transvestites, gay, anything he can watch …. very scary to think what’s going on in his mind. However, I have to remember he’s 24, trapped in a body that is not functioning properly. He is not living a normal life, and that is his outlet, I would assume–so it’s definitely a fine line. He’s usually good about keeping within his bedroom and closing the door, so I don’t bother him too much unless he starts texting and sending inappropriate pictures to people. I explain to him that some people will not understand or do not care; it’s inappropriate, and you will go to jail, and at that point, I will not be able to help you … with Huntington’s and especially Juvenile Huntington’s it doesn’t matter how many times you say it; it’s in and out of the brain. It’s a constant battle [because] they cannot manage thoughts like they used to.”

Another woman shared, “My husband is starting to be the same way. He sends messages to my friends all the time, even if he hasn’t met them. He has no concept of it being awkward and weird. He even got blocked too many times on a dating app.”

I went through similar problems with my ex, back before we had Internet and dating sites. He once picked up a strange woman and brought her to our home, even gave her some of my clothes, and sent our young four-year-old son off in her care, not knowing her last name or how to contact her. Another time, he went to my son’s first grade Christmas party and gave the teacher a very sexy piece of lingerie, which she opened in front of students and parents, something that was incredibly embarrassing for her and for the parents and the students who realized something inappropriate was happening.

The problem with hypersexuality and inappropriate sexual behavior does not occur only with males affected by HD. One man shared, “I have been having a similar issue with my wife. She claims that she has no sex drive due to all the medications that she is on for her mood, and her doctors verify her claims of reduced libido. Yet she keeps reaching out to her ex-boyfriend from almost 20 years ago, trying to hook up with him. She claims it was a one-time thing and apologized, yet I have caught her calling him or messaging him many times now. I even checked the GPS history on her phone and found out that she left the house one night after I fell asleep. Sure enough, when I checked the call history on that day, her ex called her, and within minutes, she left the house and went to a local park for about an hour. When confronted with all this, she confessed to meeting him, yet she SWEARS that they just met up to ‘talk,’ yet according to the phone records they talk on the phone all the time (even though she keeps telling me that she doesn’t really talk to him anymore). I just don’t understand how if she supposedly has no sex drive, then why does she keep trying to hook up with this guy?? I finally called his wife and told her what was going on. Now I have seen messages between her and another guy (her friend’s 27-year-old son) that were VERY sexually explicit. This caused a huge argument and nearly ended our marriage.”

The problem, when it’s a woman sending sexually explicit messages and invitations, seems to be quite different than when it’s a man doing the same thing. The same poster added, “If a man with HD sends a woman a sexually explicit message, or flat out asks for sex, 99% of women would be very offended and even get angry. But if a woman offers a man sex or a ‘sexual favor,’ a LOT of men will actually entertain it to see if she is serious and possibly even take her up on it. I have heard of MANY female HD patients being taken advantage of by men because they are hypersexual and being VERY flirty with men.”

In another caregivers’ group, someone shared how his wife enjoyed masturbation with a vibrator so much that when the batteries ran out, she went to the neighbors’ house, naked, and threatened to set their house on fire if they didn’t give her new batteries for the vibrator.

Another woman shared, “My Phd sister-in-law (now passed) was very sexually promiscuous, to the extreme of bringing home men from the bar with her husband and son right there in the house and also taking off with men she met for days at a time.”

The fear that a loved one will go to jail because of inappropriate sexual behavior is real. The tragic story of Joseph Heverin in Delaware serves as a reminder of just how dangerous it can be. Joseph was convicted twice of unlawful sexual contact, something that his family believes stemmed from the effects of Juvenile Huntington’s disease—hypersexuality and poor impulse control. His mother, Dianne says she had reached out to mobile crisis and mental health before the police became involved. Because he had just turned 18, Joseph was considered an adult, even though he was disabled, and he spent about nine months in jail, waiting for sentencing. At 21, he was admitted to Dover Health Behavioral Systems for depression. Dover Behavioral, a short-stay psychiatric facility, tried for a year to move Joseph but was unable to find a place that would accept him because he’d been labeled a sex offender. At the age of 22, Joseph choked to death on a grilled cheese sandwich while eating without supervision at Dover Behavioral. Although his mother fought hard for justice, no one was ever found culpable for his death.

Treatment Options

So what can we do about hypersexuality and inappropriate sexual behavior with our loved ones? First, we must recognize that it’s not their fault; this is the HD/JHD brain acting. While it involves problems with executive functioning (lack of judgement, poor impulse control), Dr. LaVonne Goodman considers it a part of OCB (Obsessive Compulsive Behaviors). Goodman, an internal medicine doctor in Washington state who lost her first husband to HD and is the founder of Huntington’s Disease Drug Works, notes that, “These behaviors rarely occur in isolation and are associated with anxiety, depression, agitation and can occasional [sic] be associated with delusional thoughts.” (

Her approach to treatment includes both behavioral and pharmacologic approaches. Behavioral strategies include both a “do” and “don’t” list:

Do” behavioral strategies include modifying the environment by simplifying life:

  • Regular schedules/routines. If change is necessary give advance warning
  • Allow more time for accomplishing activities
  • Identify triggers of overstimulation like noise, too rapid requests/demands
  • Distract
  • Non judgemental response
  • Give time to cool down

Don’t behavioral strategies:

  • Don’t try to rationalize or convince
  • Don’t respond with anger

She adds,

First line treatments are SSRI antidepressant drugs, several of which have been FDA approved for obsessive compulsive symptoms. These include fluoxetine (Prozac®), paroxetine (Paxil®), sertraline (Zoloft®), and fluvoxamine (Luvox®). The NSRI antidepressant drug venlafaxine (Effexor®) has been approved for severe anxiety and is also used for obsessive compulsive symptoms. Duloxetine (Cymbalta®) is a good alterntative NSRI. Often higher doses of these drugs are needed than those used for depression. Clomipramine (Anafranil®) that has combined SSRI and tricyclic that can be used in more severe presentation, but is not used first due to greater side effects than SSRI or NSRI drugs.  Mirtazepine (Remeron®) is an atypical antidepressant that is FDA approved for obsessive compulsive disorders.

Antipsychotic are not the drugs of choice for obsessive compulsive symptoms, but are often added if this symptom causes agitation.

Another article in Huntington’s Disease News concurs:

Disinhibition can be one of the most troublesome symptoms in Huntington’s disease, particularly for the family and caregivers. Milder symptoms can include speaking out of turn, embarrassing remarks, and childish behavior. More socially compromising behaviors, such as inappropriate sexual remarks, hypersexual behavior or exhibitionism can be particularly troubling.

Studies also show that disinhibition is closely linked to delusions, irritability, and agitation, suggesting that the symptoms may be on a spectrum of more classical psychotic symptoms, also commonly seen in Huntington’s.

The problems may also be more severe in younger Huntingtin gene carriers. The reviewers noted that disinhibition can be treated both with behavioral interventions and with selective serotonin reuptake inhibitors (SSRIs). Drugs used for behavioral problems in frontotemporal dementia might also be valuable. (

Others report having their loved ones put on a medication that lowers the sex drive. As always, consult with your loved one’s doctor before making any medication changes.

Most importantly, recognize that it’s okay to talk about this problem, that it’s a symptom that, if left unchecked, can lead to legal problems, and that it IS treatable! Keep talking because this subject is no longer taboo!

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Placing a Loved One with Huntington’s Disease

Placing a Loved One with Huntington’s Disease

By Katrina Hamel

My Story

In January of 2009, I started caring for my mom in my home, after years of her being homeless, ill, unreachable and 3,000 miles away. At the time, I was so glad to have her at home that I did not even consider placing her in a care facility.

Between 2009 and 2012, my mom’s psychiatric and behavioral issues became a big problem for her and for my family’s day-to-day life. She also had some of the worst chorea and eventually dystonia that I have ever seen. She would become very angry and would throw things, hit and scream. She also had paranoia and delusions that must have been terrifying for her. I had always wished that I’d found her sooner, so I could have gotten her in to see an expert in Huntington’s Disease, thus avoiding some of the pain and sadness that can come along with being unmedicated when you need medications. Some days were really hard, and I lacked resources in my area and knew no one else going through anything similar.

I had always thought about the idea of placement, but most of the time, I had too much guilt to actually “try hard” to get her placed. By that, I mean that I would call places and ask simple questions about cost, insurance, and Huntington’s disease experience and history. In doing this, I realized that the intake offices in very few places knew what HD was. I would guess that I called around 15 different homes that were near me, and out of those care facilities, two places had heard of HD, and one place had someone for a brief stay, but it had been years ago. I thought about how hard this must be for families who have nowhere to go, no places that know what HD is and how to help them. I remember thinking, I am a caregiver! I can do this! I can take care of MY mom! But at what cost? The attention to my kids, my job, the cleanliness of my house, my own health, sleep, the list goes on.

My background, before hands-on care of my mom, was in caregiving. I took care of people that had Alzheimer’s, dementia, and chronic diseases. I also specialized in Hospice care. I worked in care homes, and I also worked in people’s homes that wanted to stay home versus go into a care facility. Nothing could have prepared me for caring for my mom, though. HD is a whole different type of care that requires endless amounts of patience, acceptance, strength, disassociation, and the ability to continue day after day.

The bad days were bad, hitting, pushing, screaming, yelling, cursing, throwing food, falling, not bathing, spitting, talking to the dogs, paranoia, delusions, throwing excrement, screaming for someone to call 911, saying vile things to me and my family, breaking things and hurting herself. Good days didn’t happen in my home; good days were defined as only two or three of the above situations happening instead of all of them. I remember not even being tired at one point; I was on auto pilot; I survived, and that’s how.

My mom had always refused care from a primary doctor, a neurologist, a psychiatrist, even an eye doctor at some point. I called the police on her, in hopes of creating a paper trail for when the time came that I would be forced to place her involuntarily. She went to the ER one time, and the social worker told me that basically she was my problem, that my mother declined placement, and that she said she was fine living at home. I tried educating this woman about HD and how things may seem fine, but they weren’t. I also told this woman that I would not be picking up my mother, that they needed to help me with her care and medications, etc., before she came home. That didn’t happen, and I ended up having to pick her up.

Fast forward – I took my mom to the store for our routine monthly trip, and at some point, she decided to jump out of my car, screaming and yelling. I had my son in the car, so I had to go park and get her out of the middle of the road because she couldn’t walk well. She managed to walk/crawl/stumble into the nearby liquor store and was destroying the inside of the shop. She was screaming to call 911. So we did. I explained on the phone that my mom had HD and what that meant. They, of course, had no idea what I was describing, so I did ask for the psychiatric team to accompany them. The police came, and so did the psych team. I talked to the woman about my mom and what had been going on at home and the fact that I had been reaching out to every agency I could think of, to no avail. She saw that I had a child and knew that there was no way my mom could continue living with us without having medications on board.

My mom stayed in the hospital while I called all over Santa Barbara County and all of California, really, looking for a home that would take someone with combative behaviors and that has Huntington’s disease. I found no one willing to do so. The social worker told me that she would be releasing my mom. When I said she couldn’t come home, she replied, “How would you like it if your mom just wandered the streets of Lompoc?” Back then, I was a lot less informed about what should have happened in this situation. I said that the hospital, and more specifically the social worker, would be held liable if anything happened to her. This woman began looking for a facility to take my mom. Eventually my mom ended up in Los Angeles, which was 4.5 hours away from me and all of her family. When I walked in, the smell of urine smacked me in the face, a man was screaming and walking into a wall, there were three caregivers watching TV and ignoring everything around them. I knew I wasn’t happy, as my standards for care are pretty high. My hope was that she could get on some meds that would stabilize her, and I could get her moved closer to home or even back into my home.

Over the next several months, my mom would do well on the medications they were giving her, and we visited as often as we could. Some days, she would refuse her medications, and they would have to be forcibly given. This opened my eyes to the fact that she needed to be in a home that could provide this type of care. I would visit, and she seemed to become more and more submissive, almost defeated. Slowly, I realized that she was progressing pretty quickly. I then moved her to the care home I worked at that was for low-income people on Hospice. I was able to stay with her every day, sleep in her room next to her, and regain the love that was always hidden by daily caregiving and HD. She died 11 days later.

Tips to Help with Placement

I’d like to share some key knowledge that I have gained from my story and the stories of other people that I have helped with placement.

Since 2012, I have helped several families find placement for their loved ones. Here is a list of factors I found to be the most important to consider and talk about:

  • Insurance/veteran benefits
  • Financial obligation to the family
  • Distance from home
  • Quality of care
  • Stages of care, through Hospice?
  • Knowledge of and willingness to take someone with HD
  • Do they have any waivers available (for someone that is young?)

Start by getting a notepad and writing down the names and phone numbers of facilities in your area, or the area of interest. Have a list of questions that you want to ask and start by asking to speak with someone in the admissions office. If you have insurance, I would start by asking a care facility if they accept your insurance, and if so, does that cover all the cost? If it doesn’t, what will be the monthly cost that the family needs to come up with? At this point, if there is a financial cost that you or your family will not be able to afford, I would ask about financial assistance. I would also reach out to your loved one’s branch of armed forces if applicable, to see what is available. With each question, you will see if there is any need to move on to the next question, or if it’s time to move on to the next facility.

I would then start talking about Huntington’s disease and listen to their reaction. Sometimes people have no idea; sometimes they are almost an instant no. Other times, they have had someone with HD and are willing to take someone else with HD. Be ready to talk and educate, if they are willing. You are also welcome to download our brochure ( What is Huntington’s Disease? to have facts to support your conversation.

Something to remember is that “no” doesn’t always have to be accepted. You can still ask if there are any ways around it, if there are exceptions. In many states, in the care home world, they are licensed to care for certain populations, and sometimes this includes only adults over the age of 55. A lot of times, our community needs care prior to age 55. Each facility that has this particular license also has a certain number of waivers that allow them to care for a handful of people outside of their license. This is where younger adults with HD that need care will typically fit into.

Something to consider is, do you want to ever have to move your loved one once he/she is placed? When I placed my mom, I was glad to know that they did offer end-of-life care; even though my hope was to bring her closer to home, it was nice to know that I wouldn’t HAVE to move her. If you do not want to move them again, an important question to ask is, “Do you offer Hospice care?”

If you live near the care home you are looking into, stop by for a visit. Try not to judge the book by its cover, and introduce yourself to the caregivers in the home, if possible. Oftentimes, care homes that have the nicest, most loving people working there don’t always have an updated facility. But would you rather have great quality of care or an aesthetically appealing building?

Some important tools to have and use are social workers who have experience with placement and HD. Even if your loved one isn’t being seen by a specialist, you can reach out to your local Center of Excellence and request someone to speak with. I think having someone as support and backup from a Huntington’s disease organization can also be helpful, someone to help you navigate your specific situation. For whatever reason, sometimes care homes listen to social workers or advocacy groups more than the families, though we all know that the families are the experts! Last year, I helped a woman with placement after her family found me through Facebook. She was no longer verbal, mainly bedbound, and the family was low-income, with only state insurance. They had tried many different homes and were turned down because she had HD. I started to help them, letting care homes know I was part of an advocacy group, trying to help a family survive, as the husband needed to get to work and was having trouble caring for his wife. I would get the same story, and I started describing the care that this woman required, that she hadn’t been combative in over a year, and that she was quite docile. After talking to them about her needs, they were open for more discussion. I asked them about their waiver count, and they had two waivers available. Slowly, the process began to move her into a facility that benefitted her and her family.

Sometimes, I have helped families in situations that didn’t work out as easily, and they had to struggle before we came up with a plan.

Don’t lose hope. Do your homework and gather a team of soldiers to help you battle and advocate for you and your loved one.


Katrina Hamel is the vice president and CFO for Help 4 HD International Inc. She is currently caring for one of her brothers who has HD. Please be sure to tune into Help 4 HD Live! on Wednesday, June 13, at 4 p.m. ET/ 1 p.m. PT to hear Katrina talk about the challenges of placing someone with Huntington’s or Juvenile Huntington’s disease. You can listen to the show live (or in the archives after June 13) at

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Navigating Juvenile Huntington’s Disease

Navigating Juvenile Huntington’s Disease

By Denise Hudgell

“Sometimes superheroes reside in the hearts of small children fighting big battles.” – Author Unknown

Any parents who have or had a child with a terminal illness know the heartache of watching their child suffer and the heartache that it brings. Navigating through the world of Huntington’s disease (HD) is especially difficult at times, due to the lack of knowledge, awareness, and providers that are familiar with the disease. The Juvenile Huntington’s disease (JHD) world has its own set of challenges, from difficulty getting a diagnosis to even fewer providers that know about JHD to unrecognized symptoms that appear in JHD. The inability to receive a diagnosis of Juvenile Huntington’s disease in a timely manner can make a big difference in the way a child is treated. For example, children with JHD are often misdiagnosed with ADHD and treated with medications that can actually make JHD progress more rapidly. It can also make day-to-day activities difficult for families when a potential diagnosis is looming over their heads. When a child is at risk for HD, and he or she begins to have symptoms that could be HD-related, it can be very difficult for the parent to not wonder if it could be JHD. Every little misstep, fall, change in behavior can trigger worries in the parent.

Being the parent of a child who is at risk for HD is scary, especially when symptoms appear in childhood  or adolescence. I’ve been navigating the JHD world for over eight years, beginning when my son Aidan started having symptoms at the age of four. It is both frustrating and heart wrenching. I know the fear of JHD and the anxiety of waiting for two years to receive a diagnosis. Aidan started to show mental health symptoms such as aggression, agitation, and obsessive-compulsive behaviors at the age of four. His physical symptoms were only a few months behind. Aidan began falling more frequently, walking on his tiptoes, and having difficulty with balance. He also started to have staring spells, which were suspicious for petit mal seizures. I spoke with his preschool teacher and asked her to keep monthly handwriting samples so that I would have those to take with me to our neurology appointment that was still nine months away, since handwriting difficulty is one of the symptoms in JHD. Being an RN (registered nurse), I was very involved in our local medical community, so I started to research providers that I could reach out to. The hours I spent researching, making phone calls, and worrying were all-consuming. Once we received a diagnosis, even though it wasn’t the outcome we had hoped for, we were able to move forward with finding a specialist and focusing on how my son’s JHD was going to be treated.

After Aidan’s diagnosis, I became very involved in the JHD community, raising money for research, advocating, spreading awareness, networking with providers across the country, and working for Help 4 HD International, a non-profit that is committed to the HD/JHD community. Working so closely in the community was cathartic, even as we lived through some of the worst days of our lives. The amount of love and support that I received from the HD/JHD community, both families and professionals, local and worldwide, has been wonderful. It’s a club that none of us want to belong to, but I have met some of the most loving and caring people along our journey.

Over the last eight years, I have experienced care for my son through several different providers and specialists. There are a couple that stand out in the care that Aidan received. University of Iowa’s Center of Excellence played a pivotal role in Aidan’s care. Their medical and professional staff are very knowledgeable about JHD. They are compassionate, caring, and understand that a diagnosis of JHD encompasses caring for the family as a whole. The support and care that we received was second to none, and I am grateful for their time and passion for treating children with JHD and their families. Unfortunately, since we live four hours away, having continuous care with them was almost impossible, especially as Aidan became more symptomatic, so we only had the opportunity to see them once a year. Aidan had been getting his regular JHD care from a local HD provider, but we didn’t feel that it was the right fit, so about three years ago, we switched the rest of Aidan’s care to our local Children’s Hospital. While none of the specialists had specific knowledge and experience with JHD, all were more than happy to research and gain knowledge on how to best treat Aidan. They listened to my concerns, and we established a wonderful team for Aidan. I went with my gut, and Aidan received the best care these last three years.

In 2015, I had the pleasure of meeting the regenerative medicine team from Dr. Jan Nolta’s lab at UC Davis in California. I was able to tour the lab where regenerative medicine research is being done for JHD. It was a wonderful experience, meeting with their team. Seeing and hearing their passion, compassion, and overall love for the HD/JHD community was humbling. They are truly warriors in this fight against HD/JHD, and I feel very fortunate to have been able to get to know all of them and also to have had the pleasure of interacting with them throughout the HD/JHD community.

Unfortunately, on March 7, 2018, I became a member of another club no parent wants to be a part of. Aidan lost his battle with JHD at the young age of 12. We thought we had another year or so, but JHD had other plans. The last two months of his life were spent in and out of the hospital. Without the support of my family and the HD/JHD community, I wouldn’t have been able to make it through the worst experience of my life. Two months later, I still have so much love and support from the community, and I know that will continue. I feel very lucky to be a part of this community. I encourage everyone who has a family member with HD or JHD to become involved in some way. There are many ways to become involved: online, working with non-profits, hosting an event, educating and awareness, research. Being involved and getting to know others who are in similar situations can be very helpful and can make you feel less alone in a world that can be very lonely at times.

Although Aidan left this world way too soon, I still will be involved with the HD/JHD community, and I live in hope that a cure will come soon so that no one else has to suffer at the hands of this awful disease. I will continue to fight in Aidan’s name and hope that no parent has to experience what I and so many other parents of children with JHD have experienced.

Aidan and his family are featured in the award-winning documentary The Warriors: Fighting the Incurable Juvenile Huntington’s Disease. With a suggested donation, the documentary is available for virtual download, or you may order a copy of the DVD. Information can be found here:


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