Nancy Hertzig and Jack Furman

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a degenerative neurological disorder that affects approximately 40% of premutation carrier men and 13% of carrier women over age 50. Common symptoms are imbalance, action tremor, parkinsonian signs, thinking and psychological changes, bladder and bowel dysfunction and loss of sensation in the feet. In one study, tremor was the most frequent initial motor sign, followed by onset of imbalance in two years, falls six years, dependence on a walking aid 15 years, inability to do most daily activities 16 years, and death 21 years. Dementia is frequent at end stage disease. In the months before death affected persons are bedridden, have difficulty with speech and swallowing, are without bladder or bowel control, and are rigid, and have slow movement. As the disease progresses, dependence on a caregiver increases substantially.

Family caregivers play a critical role in managing the needs of individuals with FXTAS throughout the course of the illness. People with FXTAS rely on caregivers for a wide range of support—preparation of meals, household chores, transportation, medications, bathing, dressing, feeding, physical, emotional and social care, and managing family money.

Without caregivers, persons with advanced FXTAS would have a poorer quality of life and need institutional care more quickly. Given the importance of caregivers to FXTAS patients and that the job is overwhelming, it is necessary to support the caregivers as well as the affected persons. However, only a few research studies have evaluated the needs and burden of FXTAS caregivers.

Caregivers often report difficulties such as these:

I am presently on mental overload. Every day of caregiving for my husband is extremely trying—physically, because he can do nothing for himself, and emotionally, because he doesn’t speak or have much communication at all with me. Thus, my default daily situation is exhausting. There is always so much for me to think about just to keep my husband and me afloat through every day.
Terri Corcoran, wife and caregiver of Vince Corcoran
Yesterday afternoon, I felt the tension rising inside me and everything in me screaming, ’Stop the world, I want to get off!’ So I put aside the health insurance until a later date, turned off the computer, turned off his TV, sat down and cried for an hour.
TERRI CORCORAN
The person I care for manages to drive me crazy.
Anonymous
The behavior of the person I care for causes problems.
Anonymous
I can’t find time to rest…
Anonymous

Caregivers suffer physical and mental health issues, loss of social support, social isolation, employment difficulties, financial problems and decreased satisfaction with life and family relationships. It is vital to understand caregiver burden, to provide needed support and to help caregivers learn how to take care of themselves.

Caregiver Burden

Caregiver burden is defined as “distress that caregivers feel as a result of providing care, and this distress is different from depression, anxiety, and other emotional responses”.

  • The burden is due to restrictions on their personal time and to the sense of failure regarding their hopes and expectations.
  • FXTAS caregivers are required to manage multiple patient symptoms, such as tremor, imbalance and cognitive impairment.
  • Caregiver burden increases with increasing disability and symptoms, particularly with falls and with mental health problems, such as dementia and depression. As FXTAS progresses, affected persons suffer increasing disability related to the neurological symptoms, pain, and/or cognitive decline.

Caring for a person with a degenerative disease creates conditions of chronic stress that increase the risk of poor physical and psychological health in the caregiver.

  • Caregivers are reported to suffer from a host of stress-related symptoms: altered immune systems which increase their susceptibility to physical illness, depressive symptoms, anxiety, poor sleep, fatigue and chronic illness.
  • Poor sleep is linked to diminished quality of life, depression, and increase the risk of stroke and cardiovascular disease in caregivers.
  • Further, stress leads to increased levels of cortisol. Cortisol not only contributes to impaired cognitive function, but also toward developing other risk factors associated with cognitive impairment, such as obesity, poor blood sugar control and inflammation.

Caring for a patient and also having to bear a high proportion of the personal, social and economic costs of caring, is chronically stressful. It is likely that the caregiver burden of FXTAS is similar to those experiences by caregivers of patients with other degenerative disorders, e.g. Parkinson’s disease (PD) and Alzheimer’s disease (AD). Depression and anxiety are common mood disturbances among caregivers of AD and PD.

Different from the caregivers of AD and PD, most caregivers of patients with FXTAS are female spouses, due to the fact that men develop FXTAS more often and frequently more severely than women.

  • In FXTAS families, multiple family members may be affected by the full FMR1 mutation or premutation, compounding the burden of unaffected family caregivers.
  • Middle-aged family members may care for both their children or siblings with fragile X syndrome as well as aging persons with FXTAS.
  • Some of the caregivers are premutation carriers, e.g., daughter of a man with FXTAS. Thus, they are at risk of themselves developing the same disease, which increase their stress in addition to their daily caregiving job.

Caregiver Interventions

There are several interventions that can be extremely beneficial for FXTAS caregivers.

  • First and foremost, caregivers need to manage their own health. Thus they should see their physician for routine care as wll as treatment of symptoms such as anxiety, depression and insomnia. Caregivers need to find the time to maintain a healthy lifestyle, which besides seeking medical care includes exercise and proper nutrition.
  • In addition, provision of information and emotional/social support and reducing burden are crucial. This is best done through a multidisciplinary team (including specially-trained neurologist, pediatrician, nurse specialist, physiotherapist, occupational therapist, speech and language therapist, psychologist, and other specialists) that has expertise in Fragile X disorders, FXTAS or neurodegenerative disease, and includes regular and long term follow-up.
  • Both patients and caregivers, when surveyed, rated informational needs (“Information about what to expect in the future” and “Information on how the person with FXTAS can be helped”) as most important. Understanding the impact of the disease on the family was a priority.

A Network of Social Support

For caregivers, having contact with other families affected by FXTAS is an extremely important source of support. Creating a network of family, friends and activities outside the home can help create independence and an identity beyond that of “caregiver”.

It can be helpful to establish routines such as attending community or religious functions, playing bridge, engaging in regular exercise, and maintaining relationships that involve time away from caregiving duties. These routines help caregivers maintain emotional health and become more effective in their role.

Consult with a seasoned caregiver is beneficial, since an experienced caregiver has already gone through many trying situations and can share strategies for dealing with them.

Pyschosocial Support Interventions

Psychosocial support interventions – including education, skill-building, counseling, information and emotional support – aim at improving the caregivers’ ability to manage the caregiving situation. The interventions at the individual caregiver’s level can be given in the caregiver’s home and can be beneficial in reducing or stabilizing depression, stress, role strain and burden. This improves the caregiver’s coping ability.

Group Support and Respite Services

In addition, group interventions also have a social dimension. The interaction between group members can have an effect on caregivers that is impossible to achieve with individual support. Group support has a positive effect on the caregiver’s coping ability, knowledge, social support and reducing depression and anxiety.

Respite services provide caregivers a temporary rest from caregiving to improve the well-being of the caregiver. Respite care can be helpful in reducing depression, burden and anger.

Information and Communication Technology

Information and communication technology has recently been developed to support caregivers. This involves use of the telephone or computer. For example, the Williams LifeSkills Video (WLV) is a video-based coping skills training, which presents ten lessons on improving skills to identify and manage stressful situations and to enhance interpersonal relationships. When tested in a group of dementia caregivers, the WLV significantly reduced depression, anxiety and stress, and normalized systolic and diastolic blood pressure over the six-month follow-up period.

Problem Solving Therapy

Problem solving therapy (PST), which is a specific psychological treatment that helps to effectively manage the negative effects of stressful events, is beneficial. The PST approach improves depressive symptoms in both persons with FXTAS and their caregivers. Skills of PST include making effective decisions, generating creative means of dealing with problems and accurately identifying barriers to reaching one’s goals.

Resource for PST: www.apa.org/pubs/videos

Mindfulness-Based Stress Reduction

Another beneficial form of psychotherapy is mindfulness-based stress reduction (MBSR). Dr. Jon Kabat-Zinn developed the MBSR program at the University of Massachusetts Medical Center. Since its inception, MBSR has evolved into a common form of complementary medicine addressing a variety of health problems. MBSR may help caregivers manage the chronic stress of caring. MBSR is a standardized program designed to reduce stress and manage difficult emotions through training in mindfulness, based on ancient healing practices.

Mindfulness practice is ideal for cultivating greater awareness of the unity of mind and body, as well as of the ways the unconscious thoughts, feelings, and behaviors can undermine emotional, physical, and spiritual health. The mind is known to be a factor in stress and stress-related disorders, and meditation has been shown to positively affect a range of autonomic physiological processes, such as lowering blood pressure and reducing overall arousal and emotional reactivity.

Resource for MBSR: palousemindfulness.com/selfguidedMBSR.html

Palliative Care

Palliative care is a holistic multidisciplinary approach that is likely to benefit every family with a member with FXTAS. This is an approach to patient care that focuses on reducing suffering by addressing medical symptoms such as pain, psychological issues, social factors and spiritual well-being. Palliative care engages with patients and caregivers at any point in the disease course rather than being restricted to the end of life. The goal is to improve quality of life for both the patient and the family.

Palliative care is provided by a specially-trained team of doctors, nurses, social work, palliative care specialists, massage therapists, pharmacists, nutritionists, chaplains and other specialists who work together to provide an extra layer of support. Palliative care for neurological disease is a new medical area, and is being developed in a few medical centers, such as the University of Colorado Denver. However, many medical facilities in the US are starting to offer general palliative care services, which have the potential to improve quality of life and reduce caregiver burden and nursing home placement.

Religion

Last, but not least, religion can be an important personal resource of strength for caregivers. Caregivers who use faith/religion have a better opinion on caring, a better relationship with the affected person and lower levels of depression.

Linda Kuhn and her sister Brenda w FXTAS

Caregiving Includes Taking Care of Oneself

In summary, persons with FXTAS are highly dependent on their caregiver; caregivers are at exceptionally high risk for stress-related disease; and caregivers that have needed support are able to provide better care and are healthier. Caregivers need to take care of their own health first.

Also, caregivers need special skills, such as knowing how to deal with and assist an angry, impulsive individual, learning how to take care of themselves, and to know how to manage their stress. This includes forgiving themselves for not being perfect – to enable the caregiving role to continue, to take 10 deep breaths, and to call a friend to alleviate stress.

Caregivers need to learn how to recognize fatigue warning signs, such as depression, despair, feelings of hopelessness and emotional strain, which often manifest as varying physical symptoms, an ongoing tendency to ignore or postpone taking care of their own health need, feelings of profound tiredness and exhaustion not relieved by sleep, growing feelings of isolation, feelings of anxiety and uncertainty about the future. Foundations such as the National Fragile X Foundation and National Parkinson Foundation, are there to help.

Resources

Online support is available through the National Fragile X Foundation at fxtas.fragilex.org.

Other websites:

Authors
Maureen Leehey, MD
is Professor of Neurology & Chief, Movement Disorders Division at the University of Colorado. She studies the etiology and treatment of neurodegenerative disease characterized by movement disorders. She described the neurological aspects of fragile X-associated tremor/ ataxia syndrome (FXTAS), when it was recognized in 1999. She has run over 30 clinical research studies, mostly in Parkinson disease and FXTAS.

Ying Liu, MD
is a neurologist and researcher from Dalian, China. She currently works as a clinical researcher in the Department of Neurology, University of Colorado School of Medicine with Dr. Leehey’s team, focusing on Parkinson’s disease and FXTAS research.