huntingtonsimpact

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Resources

Bates, G., Tabrizi, S., & Jones, L. (Eds.). (2014). Huntington's disease (No. 64). Oxford University Press.

Broderick, P. C., & Blewitt, P. (2020). The Life Span: Human Development for Helping Professionals (5th ed.). Pearson Education.

Cleveland Clinic medical. (n.d.). How to do the heimlich maneuver. Cleveland Clinic. https://my.clevelandclinic.org/health/treatments/21675-heimlich-maneuver

Craig Hospital. Neurorehabilitation Center Colorado: Craig Hospital. (n.d.). https://craighospital.org/

HDSA: Huntington’s Disease Society of America. Huntington’s Disease Society of America - Family Is Everything. (n.d.). https://hdsa.org/

Huntington Physical Therapy, HPT - Huntington, WV & Barboursville, WV. HUNTINGTON PHYSICAL THERAPY. (n.d.). https://www.hptservices.com/

Physiotutors: Online learning for physiotherapists. Physiotutors. (2024, May 22). https://www.physiotutors.com/

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Article References

Cho, I.K., Hunter, C.E., Ye, S. et al. (2019). Combination of stem cell and gene therapy ameliorates symptoms in Huntington’s disease mice. npj Regen Med, 4(7). https://doi.org/10.1038/s41536-019-0066-7

Frank, S. (2014). Treatment of Huntington's disease. Neurotherapeutics, 11(1), 153-160.

Fritz, N. E., Rao, A. K., Kegelmeyer, D., Kloos, A., Busse, M., Hartel, L., ... & Quinn, L. (2017). Physical therapy and exercise interventions in Huntington’s disease: a mixed methods systematic review. Journal of Huntington's disease, 6(3), 217-235.

Jona, C. M. H., Labuschagne, I., Mercieca, E. C., Fisher, F., Gluyas, C., Stout, J. C., & Andrews, S. C. (2017). Families affected by Huntington's disease report difficulties in communication, emotional involvement, and problem solving. Journal of Huntington's Disease, 6(3), 169-177. https://doi.org/10.3233/JHD-170250

Kachian, Z. R., Cohen-Zimerman, S., Bega, D., Gordon, B., & Grafman, J. (2019). Suicidal ideation and behavior in Huntington's disease: Systematic review and recommendations. Journal of affective disorders, 250, 319-329.

McColgan, P., & Tabrizi, S. J. (2018). Huntington's disease: a clinical review. European journal of neurology, 25(1), 24-34.

Mestre, T. A., & Shannon, K. (2017). Huntington disease care: From the past to the present, to the future. Parkinsonism & related disorders, 44, 114-118.

Pizzorni, N., Pirola, F., Ciammola, A., & Schindler, A. (2020). Management of dysphagia in Huntington’s disease: a descriptive review. Neurological Sciences, 41(6), 1405-1417.

Scuffham, T. M., & MacMillan, J. C. (2014). Huntington disease: who seeks presymptomatic genetic testing, why and what are the outcomes?. Journal of genetic counseling, 23(5), 754-761.

Simón-Vicente, L., Cuesta-García, C., Rivadeneyra-Posadas, J., Mariscal, N., Aguado, L., Miguel-Pérez, I., ... & Cubo, E. (2023). Occupational performance in Huntington’s disease: A cross-sectional study. British Journal of Occupational Therapy, 86(6), 432-440.

Stoker, T. B., Mason, S. L., Greenland, J. C., Holden, S. T., Santini, H., & Barker, R. A. (2022). Huntington’s disease: Diagnosis and management. Practical neurology, 22(1), 32-41.

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So that's it?

That's it.

I wish I had better news for all of you affected by HD, but at this time there simply is no outright cure for Huntington's. While there are plenty of options for treatment, it's focused on managing the symptoms in an ultimately palliative manner, but that's no reason to completely give up hope.

If you or someone dear to you is still mentally present despite HD, then please, cherish this time together. Time with family and friends is precious and fleeting. Treasure these chances while you can, because they won't be around forever.

Thank you.

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Stem Cell Therapy

In a noteworthy 2019 study involving primates, researchers successfully transplanted neural progenitor cells derived from induced pluripotent stem cells (iPSCs). This achievement is crucial because it demonstrates the feasibility of using stem cells to replace damaged brain cells in Huntington's Disease, where neurons progressively degenerate.

The concept revolves around using iPSCs, which are versatile cells reprogrammed from adult cells like skin cells, and coaxing them into becoming neural progenitor cells. These cells have the capability to develop into various types of brain cells, including those lost in Huntington's Disease. By transplanting these neural progenitor cells into the affected areas of the brain, researchers aim to replace the lost neurons and potentially halt or slow down the disease progression.

Moreover, combining stem cell therapy with gene therapy represents another avenue of exploration. Gene therapy could be used to modify the iPSCs before transplantation, potentially enhancing their ability to integrate into the brain and function effectively. This dual approach holds promise as a comprehensive treatment strategy that targets both the symptoms and underlying causes of Huntington's Disease.

While human trials have yet to commence, the results from animal studies like the primate research offer hope for future clinical trials. If successful, stem cell therapy could offer a transformative treatment option for individuals with Huntington's Disease, potentially improving their quality of life by mitigating symptoms and slowing disease progression. This research represents a critical step forward in the quest for effective therapies to combat this devastating neurodegenerative condition.

Cho, 2019

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HD Care Facilities

As the disease progresses, it may get to the point where the family is unable to act as sole caregivers for the patient any longer. In these times, it may become necessary to seek a care facility in order to ensure that their loved one is safe and well cared-for.

Specialized HD clinics, like those recognized by the Huntington's Disease Society of America (HDSA) as Centers of Excellence, play a vital role. These clinics offer comprehensive care tailored specifically to HD patients, including expert medical management, therapies, and counseling aimed at enhancing quality of life and addressing specific symptoms of the disease. They serve as hubs where patients can receive specialized treatments and support from teams experienced in managing HD.

Home care services are another valuable option for HD patients. These services provide both medical assistance, such as administering medications and managing symptoms, and non-medical support, such as help with daily activities and emotional companionship. Home care allows patients to remain in familiar surroundings while receiving personalized care that meets their individual needs. It offers flexibility and can be adjusted as the disease progresses, ensuring comfort and continuity of care.

Long-term care facilities, such as nursing homes and residential care homes, provide round-the-clock support and skilled nursing staff trained in managing HD symptoms. These facilities offer a safe environment where patients can receive ongoing medical care, assistance with daily tasks, and social interaction with other residents and staff. They are equipped to handle the complex needs associated with HD and provide families with peace of mind knowing their loved ones are receiving comprehensive care in a supportive setting.

For patients in advanced stages of HD or those needing end-of-life care, hospice and palliative care programs offer specialized support. These programs focus on managing symptoms, enhancing comfort, and providing emotional and spiritual support to both patients and their families. They ensure that patients receive dignified care that aligns with their preferences and values, emphasizing quality of life during this sensitive time.

HDSA

Mestre, 2017

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Family Planning for those with HD

Huntington's Disease manifests later in life, and there is time for those with a positive diagnosis to still start a family if they so choose. Some may refuse on the basis of refusing to start a family only to desert it when their disease progresses to the point where their family won't even recognize them anymore, but this is not everyone's perspective.

Since HD is autosomal dominant, meaning it can be passed down from a parent to their child, there are significant considerations for patients who wish to have children. One of the primary concerns is the risk of passing on the disease to their offspring. Each child of an HD-affected parent has a 50% chance of inheriting the faulty gene that causes the disease. This genetic certainty underscores the importance of informed decision-making when planning a family.

For HD patients contemplating parenthood, several options can mitigate the risk of passing on the disease. Adoption offers a path to expanding a family without the genetic risk inherent in biological children. It provides the opportunity to nurture and support a child in need of a loving home, fostering familial bonds without the genetic implications of HD.

Another viable option is In Vitro Fertilization (IVF) coupled with preimplantation genetic diagnosis (PGD). This sophisticated technique allows embryos created through IVF to be screened for the HD gene before they are implanted in the uterus. By selecting embryos that do not carry the faulty gene, prospective parents can significantly reduce the likelihood of passing on HD to their children.

Both adoption and IVF with genetic screening offer HD patients the chance to build families while minimizing the genetic risks associated with the disease. These options empower individuals to make informed choices aligned with their personal values and family goals. They also highlight the advancements in reproductive medicine and the importance of seeking genetic counseling to navigate the complexities of family planning with Huntington's Disease. By considering these factors carefully, individuals affected by HD can approach family planning with confidence and hope for a healthy future.

HDSA

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Addressing Stigma & Promoting Awareness

It is important to develop empathy and understanding

towards individuals and their families who are affected by this challenging condition. By promoting understanding through education and awareness initiatives like those organized by the Huntington's Disease Society of America (HDSA), communities can better support those living with HD.

Community outreach programs play a vital role in this effort by providing accurate information about HD, its symptoms, and its impact on individuals and families. This knowledge helps dispel myths and misconceptions surrounding the disease, reducing stigma and fostering a more supportive environment. When communities engage actively in learning about HD, it not only makes it easier for affected individuals to access resources and support but also encourages those at risk to seek diagnosis and genetic testing.

Currently, a significant barrier to early diagnosis is the reluctance of individuals at risk to undergo testing. Over 95% of those potentially at risk do not get tested for HD. It's important to understand that genetic testing for HD simply confirms or rules out the presence of the genetic mutation; it does not determine whether the individual will develop the disease. By encouraging testing and promoting awareness of the benefits of early diagnosis, communities can help individuals make informed decisions about their health and future.

HDSA

Scuffham, 2014

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Social Support

Friends play a vital role by offering emotional support and companionship. They provide a listening ear and understanding, which can be immensely comforting amidst the challenges of HD. Spending time with friends also offers engagement in activities that bring joy and help maintain a sense of normalcy in life.

Family members are crucial allies in the journey with HD. They not only offer practical assistance with daily tasks but also provide caregiving support that is essential as the disease progresses. Beyond the immediate tasks, families play a pivotal role in future decision-making, ensuring that the individual's wishes are respected and their needs are met throughout their journey with HD.

Communities also play a significant role in supporting those with HD and their families. They provide access to support groups where individuals can connect with others facing similar challenges. These groups offer emotional support, share experiences, and provide a sense of belonging. Communities also offer access to educational resources about HD, social services that can help navigate the complexities of managing the disease, and specialized care facilities equipped to provide the necessary medical and therapeutic support.

HDSA

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Workplace Accommodations

As we have already discussed, under GINA, FMLA, and ADA, employees have rights protecting them from discrimination based on their genetic information and providing options for medical leave and reasonable accommodations.

Disclosing an HD diagnosis to an employer is a personal decision that should be handled thoughtfully. It allows the employer to understand the employee's needs better and facilitates the process of arranging necessary accommodations. Flexible work hours or telecommuting options can be particularly beneficial for individuals with HD, as they may experience varying levels of physical and cognitive abilities. This flexibility enables them to work when they are most productive and manage medical appointments or fatigue effectively.

Creating ergonomic workstations and providing assistive devices are practical ways employers can accommodate physical limitations associated with HD. Ergonomic setups reduce strain and discomfort, promoting better productivity and overall well-being. Assistive devices, such as specialized keyboards or voice recognition software, help individuals overcome specific challenges they may encounter due to the disease's progression.

Above all, fostering a supportive and understanding workplace environment is essential. When coworkers and supervisors are aware of the challenges HD may present and offer empathy and flexibility, it contributes significantly to the employee's morale and job satisfaction. A supportive environment reduces stress and anxiety, which can worsen symptoms, and encourages open communication about any adjustments needed to maintain productivity and well-being.

Workplace accommodations not only fulfill legal requirements but also embody compassion and inclusivity. By implementing these accommodations, employers not only support employees with HD in continuing their careers but also foster a culture of respect and care that benefits everyone in the workplace.

HDSA

Simón-Vicente, 2023

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Planning for the Future

Living with Huntington's Disease can be seen as a death march towards the inevitable. It is important for patients to understand and plan for what happens when they are gone. HD is a progressive neurodegenerative disease, which makes it all the more important that these aspects should be addressed and their affairs set in order while their cognitive state is still functional.

One important step is creating a will and advanced directive. An advanced directive allows individuals to state their healthcare preferences in advance, including whether they want life-saving measures in the event of an emergency or a Do Not Resuscitate (DNR) order.

Another vital consideration is establishing power of attorney. As HD progresses, patients may reach a point where they are no longer able to make decisions for themselves. In such cases, having a trusted family member or friend designated as power of attorney ensures that someone can make decisions on their behalf regarding finances, healthcare, and other important matters.

Family members should discuss the possibility of HD with their loved one and consider their own health. HD is hereditary, and so children and relatives have a risk of carrying the condition. While the decision to undergo diagnostic testing is personal and should be made carefully, knowing one's genetic status can help individuals plan their lives accordingly and access appropriate medical care and support.

HDSA

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How to Cope

In spite of all the medications, physical therapy, occupational therapy, and legal protections, there's no escaping the fact that Huntington's Disease is incurable. The disease will progress, and the patient's motor and cognitive abilities will deteriorate.

Coping with the stress and emotional distress of Huntington's Disease requires a multifaceted approach that focuses on both emotional support and practical strategies. First and foremost, having a strong support network is crucial. This network should include family, friends, and possibly support groups where individuals can find comfort, understanding, and encouragement for the challenges ahead. Sharing experiences with others facing similar circumstances in support groups can be particularly beneficial, as it fosters mutual understanding and provides a sense of community.

Psychotherapeutic counseling is another essential component of coping. Counseling sessions, both for patients and their families, can help navigate the complex emotional terrain that comes with a Huntington's Disease diagnosis. These sessions provide a safe space to express fears, uncertainties, and feelings of grief or loss, offering guidance on how to manage these emotions constructively.

In addition to emotional support and counseling, adopting healthy lifestyle habits plays a crucial role in managing stress. Regular exercise not only improves physical health but also boosts mood and reduces anxiety. A balanced diet, with plenty of fresh fruits and vegetables, supports overall well-being. Staying hydrated and practicing mindfulness or relaxation techniques, such as deep breathing or meditation, can further help manage stress levels.

Combining these strategies—emotional support, counseling, support groups, and healthy habits—can significantly enhance one's ability to cope with the challenges of Huntington's Disease. Each person's journey is unique, but with a comprehensive support system and practical coping mechanisms in place, individuals and their families can navigate this difficult path with greater resilience and hope for the future.

HDSA

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Occupational Therapy for HD

Occupational therapists help individuals with HD to maintain independence in their daily lives. This disease progressively affects movement, cognition, and behavior, making everyday tasks challenging over time. They specialize in providing strategies and tools that enable individuals with HD to continue performing activities that are essential for daily living.

One key aspect of occupational therapy is teaching techniques tailored to the person's abilities and challenges. For instance, therapists may work on strategies for meal preparation and dressing that accommodate motor difficulties and promote independence. This could involve breaking down tasks into manageable steps or introducing adaptive equipment that simplifies movements, such as specialized utensils or dressing aids.

Speaking of equipment, occupational therapists often recommend and facilitate the use of assistive devices like wheelchairs, gait belts, and jar openers. These tools are selected based on the individual's specific needs and can significantly enhance their ability to navigate their environment and perform tasks that would otherwise be difficult or impossible.

HD can also affect cognitive functions, including memory. Occupational therapists provide practical strategies to manage these cognitive changes, such as establishing fixed routines and using memory prompts. These techniques help individuals stay organized and maintain continuity in their daily activities, reducing frustration and anxiety associated with memory lapses and general cognitive decline.

Occupational therapy is also instrumental in addressing work-related challenges for individuals with HD. Therapists collaborate with patients to develop personalized strategies for managing tasks at work. This might involve pacing strategies to conserve energy throughout the day or making environmental changes in the workplace to improve safety and efficiency.

In addition to physical strategies, occupational therapists provide cognitive and behavioral interventions tailored to the individual's needs. This could include memory aids, like digital organizers or written reminders, to support cognitive function. Therapists may also work on stress management techniques or interpersonal skills to improve communication and relationships in the workplace.

Occupational therapists can also liaise with employers and colleagues to create a more supportive work environment. They may recommend modifications to the physical workspace, such as ergonomic adjustments or ensuring accessibility, to enhance safety and comfort. Therapists also educate employers and coworkers about HD and its impact on work performance, which should hopefully develop understanding and empathy within the workplace.

Throughout the process, occupational therapists continually assess progress towards established goals and make adjustments to interventions as needed. They provide ongoing support and encouragement to the individual, empowering them to navigate challenges and maximize their potential in their professional lives despite the progressive nature of HD.

HDSA

Simón-Vicente, 2023

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Swallowing Guidelines for HD

Many of the same motion difficulties in Huntington's Disease that affect speech also affect the individual's ability to swallow. Managing swallowing is crucial as the disease progresses.

The above image, from HDSA, displays the many muscles that must work in conjunction with one another for the swallowing function.

Sitting upright, possibly with head support, helps ensure that the muscles involved in swallowing can work effectively. This position promotes proper alignment of the throat and neck muscles, making it easier to swallow food without discomfort or risk of choking.

During meals, it's beneficial to take breaks and cough every few bites if needed. This action helps clear any food residue that might linger in the throat, reducing the chance of aspiration (food or liquid entering the airway). By clearing the throat regularly, individuals with Huntington's Disease can eat more comfortably and safely.

Throughout the day, drinking small sips of water is essential. This serves multiple purposes: it exercises deliberate swallowing, which helps maintain muscle strength and coordination over time. Additionally, sipping water prevents excessive saliva buildup, a common issue in this condition. Managing saliva helps individuals avoid drooling and maintains comfort during daily activities.

In the event that swallowing becomes so difficult that the individual chokes, it may become necessary to perform the Heimlich Maneuver in order to save the patient from choking. Friends, family, and caregivers are recommended to understand and learn this lifesaving maneuver in order to clear the patient's airway of food or liquid. It is also a helpful maneuver to understand in general. You can learn how to perform the Heimlich Maneuver on adults and on infants through this link by the Cleveland Clinic Foundation.

Cleveland Clinic

HDSA

Pizzorni, 2020

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Speech Therapy for HD

HD affects both movement and communication abilities. As the condition progresses and muscular control declines, tasks like speaking and swallowing become increasingly challenging. This happens because these actions require precise coordination of muscles that may no longer function properly. This coordination is typically unconscious in individuals without any neurodegenerative disease, so as a disease like Huntington's progresses, what was once unconsciously controlled must become consciously controlled.

Speech therapists specialize in helping patients maintain or regain control over their jaw and lip movements, which are essential for clear speech. They use exercises and techniques that focus on strengthening these muscles and improving their coordination, enabling patients to speak more clearly and effectively.

Throughout the progression of Huntington's Disease, speech therapy strategies evolve to meet changing needs. Initially, therapists concentrate on enhancing speech intelligibility. They may suggest techniques such as speaking slowly and clearly, using shorter sentences, or emphasizing certain sounds. These techniques can apply to both the individual with the disease as well as friends and family in order to make communication that much easier for everyone involved.

As the disease advances and motor skills further deteriorate, therapists adapt their approach. They may introduce strategies to compensate for reduced movement and cognition, such as incorporating gestures or using alternative communication methods like typing or writing. For those who find writing difficult, letter or phrase boards can be utilized to facilitate communication.

The above video from Craig Hospital in Denver, Colorado displays how to use partner-assisted scanning with a letter board.

Family and friends play a crucial role by encouraging clear communication practices and providing patience and support. By working closely with speech therapists and loved ones, individuals with HD can maintain their ability to communicate effectively, thereby enhancing their quality of life and overall well-being.

Craig Hospital

HDSA

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Physical Therapy for HD

Physical therapy offers specialized exercises designed to assist individuals with HD in managing their symptoms and maintaining their physical function. Sticking to a steady physical therapy routine assures that the individual is capable of caring for themselves for as long as possible with a reasonable quality of life.

Active Range of Motion (AROM) exercises involve actively moving joints through their full range without assistance. These exercises are essential because they help prevent joints from becoming stiff and muscles from tightening excessively, a condition known as contractures, which can severely limit movement and cause discomfort.

The above video from Physiotutors discusses and displays an example of AROM exercises for the hip joint.

Strength maintenance exercises are another important aspect of physical therapy, but due to chorea (the involuntary hyperkinetic movements characteristic of HD) traditional strength exercises using free weights can pose a safety risk. Therefore, physical therapists often recommend functional strength-training exercises that are safer and more practical. Examples include off-the-wall pushups and tasks such as lifting objects onto shelves. These exercises not only help maintain muscle strength but also simulate real-life movements, promoting functional independence.

Balance maintenance exercises are also emphasized in physical therapy for Huntington's Disease patients. These exercises focus on improving and preserving balance and stability, which can often be affected as HD progresses. These exercises include standing marches, in which the patient lifts each knee alternately while standing, focusing on maintaining balance throughout, heel-to-toe walking, in which the patient walks in a straight line by placing the heel of one foot directly in front of the toes of the other foot in order to challenge balance and coordination, and standing on one leg for a short period of time with support nearby if needed in order to improve and promote balance and proprioception.

The above video from Huntington Physical Therapy Services displays a set of single leg lift exercises, both with the legs straight and with the knees bent.

HDSA

Huntington Physical Therapy

Fritz, 2017

Physiotutors

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Medications for Cognitive Symptoms in HD

Motor symptoms only make up a part of the symptoms that arise in Huntington's Disease. It also brings mental symptoms that can be managed with medications. These drugs help ease emotional distress and cope with the symptoms themselves. It is important to note, though, that these medications only address the symptoms and not the root cause of the disease.

SSRI Antidepressants

Selective Serotonin Reuptake Inhibitors (SSRIs) such as sertraline and fluoxetine can help alleviate symptoms of depression and anxiety that commonly accompany the disease. SSRIs work by increasing the levels of serotonin, a neurotransmitter in the brain that plays a key role in regulating mood, by blocking their reuptake in the synaptic cleft. Serotonin is often low in individuals experiencing depression, so SSRIs help by making more serotonin available in the brain, which can improve mood and reduce feelings of sadness and anxiety. This can be especially beneficial for Huntington's Disease patients who may struggle with these mental health challenges alongside their physical symptoms.

Antipsychotics

Antipsychotic medications such as risperidone and haloperidol can help to manage symptoms like agitation, hallucinations, and disruptive behaviors that can occur due to changes in the brain caused by the disease. Risperidone and haloperidol work by blocking certain dopamine receptors in the brain. Dopamine is a chemical messenger that affects emotions, behavior, and perception. In Huntington's Disease, there can be imbalances in dopamine levels and activity, leading to symptoms like agitation and hallucinations. By blocking dopamine receptors, these medications help to stabilize brain function and reduce these troublesome symptoms, improving quality of life for patients with HD as well as their caregivers.

Mood Stabilizers

Mood-stabilizer medications such as lithium can help manage emotional and behavioral symptoms like mood swings, irritability, and impulsivity that can accompany the disease. Lithium works by affecting the balance of certain chemicals in the brain, such as serotonin and norepinephrine, which are involved in mood regulation and behavior. By stabilizing these neurotransmitter levels, lithium helps to smooth out mood fluctuations and reduce the intensity of emotional highs and lows. This can improve overall emotional stability and quality of life for individuals with HD, which makes it easier to cope.

Frank, 2014

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Medications for Chorea

There are medications that can treat the hyperkinetic disordered motor symptoms, or "chorea" that emerge in HD.

Tetrabenazine

Also sold under the brand names Xenazine, Xentra, and Nitoman, tetrabenazine is believed to work by reducing the levels of certain chemicals in the brain that are involved in controlling movement. It does this by blocking a protein called vesicular monoamine transporter 2 (VMAT2). This action prevents the storage of these chemicals in nerve cells, leading to lower levels of these chemicals available to send signals between nerve cells. By decreasing these chemical signals, tetrabenazine helps to reduce the involuntary hyperkinetic movements known as chorea.

Deutatrabenazine

Sold under the trade name Austedo, dutatrabenazine works similarly to tetrabenazine, but it is an isotopic isomer in which six hydrogen atoms have been replaced by deuterium atoms, which slows the rate of drug metabolism. This slower metabolism rate allows for less frequent dosing.

Frank, 2014