Living with Friedreich’s ataxia

 

Living with Friedreich’s ataxia (FA) — a progressive neurological disorder that affects coordination, balance, and muscle strength — can be a challenging journey that requires healthcare support, adaptation, and a caring network.

The disease typically begins in childhood or adolescence and is caused by a mutation in a gene called FXN. FA symptoms often get worse over time, eventually involving many different muscle groups and organs.

FA treatment can slow disease progression and help with symptoms. FA life expectancy is affected by a number of factors, including age of disease onset, severity of symptoms, and comorbidities (having more than one health condition).

Managing FA means you may find yourself balancing healthcare visits, physical and occupational therapy appointments, needing emotional support, and using adaptive strategies and assistive devices to ensure independence for as long as possible.

It also means developing strategies to manage daily tasks, or modifying your environment for better accessibility. Maintaining your social connections and participation in activities — which may require adjustments to accommodate physical limitations — is also important.

Parents and caregivers play an essential role in emotional and physical support of children with FA as they grow up. School life may mean making adjustments to help with mobility problems and fatigue.

How FA affects daily living

In daily life, you might be dealing with the physical aspects of the disease, which can encompass issues with coordination, muscle weakness, balance difficulties, speech impediments, and persistent fatigue. Some people with FA also develop heart problems and diabetes along with mental health issues such as anxiety and depression.

You may find yourself eventually transitioning from using a cane to a walker, and then to a wheelchair as you get older and your symptoms worsen over time.

FA often leads to a loss of coordination, making simple tasks such as walking, writing, and eating more difficult over time. Maintaining balance can be a challenge, increasing the risk of falls and injuries. Weakness in the muscles can affect mobility and lead to difficulty doing activities such as climbing stairs and lifting objects.

As FA progresses, you may experience slurred speech or difficulty articulating words. Fatigue is another common problem, which can limit your ability to engage in daily activities.

Treatment options

Various treatments are available that can help slow the progression of FA and manage its symptoms, including approved treatment with Skyclarys, along with physical and occupational therapies, and speech therapy. Some people may require surgery to correct severe cases of scoliosis, foot deformities, and swallowing difficulties. Some experimental treatments are also in development.

Skyclarys (omaveloxolone) is an oral treatment that is expected to slow or prevent the progression of FA in adults and certain adolescents with the inherited disorder. Skyclarys boosts energy production in cells, which is impaired in FA.

Physiotherapy involves stretching and exercises that aim to preserve or improve physical function. Physical therapy generally helps improve balance, flexibility, strength, and coordination.

Occupational therapy can help you find strategies to make doing daily activities easier. Occupational therapists can assist you in becoming more proficient with mobility aids and adaptive tools, and can help you adjust your work, school, or home environment for ease of use.

Speech therapists work with you to strengthen muscles involving your mouth, jaw, and throat.

Scoliosis is a sideways curvature of the spine that can develop from muscle weakness in people with FA. Surgery is usually recommended in the most severe cases.

Surgery may also alleviate discomfort and help correct changes in your foot and your gait. It may also prevent the progression or recurrence of deformity in the foot.

Swallowing challenges — called dysphagia — may interfere with getting the right amount of nutrients. If this is an issue, it may be recommended that you consider having a surgical procedure known as a gastrostomy. This is an opening made directly in the stomach through the abdomen, where a feeding device is inserted.

FA results from a deficiency of the frataxin protein that can lead to a condition called cardiomyopathy, a form of heart disease. Approximately 75% of people with FA have heart abnormalities, which sometimes requires surgery.

People with FA are at a higher risk of developing diabetes, a condition that affects how your body processes sugar. The symptoms of diabetes for people with FA are similar to the general symptoms of diabetes. They include extreme thirst, frequent urination, weight loss, fatigue, and blurry vision.

Navigating the healthcare system

As FA is a neurodegenerative disorder that affects voluntary muscle control, you will be coordinating healthcare with many different specialists, from orthopedic surgeons to speech therapists.

Because it is a rare disease, it is important that your primary care provider is up to date or knowledgeable about the current standard of care. The Friedreich’s Ataxia Research Alliance (FARA) has established clinical care guidelines to help physicians with diagnosing, treating, and managing FA.

Your care team will consist of a group of healthcare professionals and support providers, which may include:

• A primary care provider who looks after your overall health and acts as a central point person for medical referrals
• A neurologist who specializes in neuromuscular conditions, and provides ongoing treatment
• A cardiologist who monitors heart-related complications and provides treatment when necessary
• An endocrinologist can manage blood sugar control and treatment if diabetes develops as a secondary concern
• An orthopedic specialist can assess orthopedic issues like scoliosis and provide surgical interventions when necessary
• A genetic counselor provides education about the genetics of FA, including genetic inheritance, testing, and family planning
• A dietitian develops a suitable meal plan to deal with swallowing problems
• A home healthcare provider comes to your home to assist with daily activities and can offer companionship
• A mental health counselor, such as a psychologist or therapist, to support your emotional well-being and help you cope and adjust to the challenges of living with FA.

Your care team may also include other specialists, such as a physiotherapist, occupational therapist, and a speech therapist.

Regular communication with your healthcare team is essential to ensure your needs are met. If your child has FA, discuss it with them in an age-appropriate manner. When possible, include them in decisions about their care and treatment, so they are active participants in their healthcare.

Creating a routine

Creating a daily routine can be beneficial in many ways. A daily routine helps establish predictability and structure in your life, which can help reduce anxiety and uncertainty.

It can also help you conserve energy. By planning your day ahead of time, you can build in rest breaks and make sure you save energy for essential tasks and activities that you enjoy.

Your routine may include taking medication at regular intervals. It also may mean regular physical and occupational therapy exercises, so adding these to your daily routine can help preserve physical functions like walking and balance.

Making time for social activities can help with emotional support and maintaining relationships. Keeping up your personal self-care, such as hygiene, dressing, and grooming, can also support your sense of self-esteem.

Tips for creating a daily routine include:

• Identifying essential activities and appointments and writing them on a calendar, in a diary, or on your smart device
• Making a task list according to priority, and allocating your energy accordingly
• Scheduling more demanding activities for when you expect to have more energy
• Incorporating rest breaks into your day
• Finding enjoyable and relaxing activities
• Learning adaptive strategies for everyday tasks
• Establishing achievable goals, and celebrating your accomplishments, big and small
• For younger children with FA, keeping to regular meals, bath and bedtimes, schedule playdates, hobbies and activities, and helping them with homework
• For school-age children, helping them with their schoolwork and providing dedicated study and homework time at home
• Allocating time for the entire family to be together, including outings and recreational activities.

Risk management

Living with FA means avoiding risky behaviors, and learning what is best for you at home, at school, and at work.

Some environments can increase your risk of falling, but there are ways to address, including:

• removing tripping hazards in the home, such as small rugs
• adding grab rails to the bathroom
• securely attaching handrails on stairs and other locations
• rearranging furniture and home layout to create clear pathways
• keeping your home well lit, especially in high traffic areas and stairways
• using assistive devices like walkers, canes, or orthopedic devices to improve stability
• wearing comfortable, well fitting shoes with nonslip soles
• using voice-control technology to operate items around the house, such as voice-activated lights, thermostat, and appliances, as well as your smart device.

When outside your home, pay attention to your surroundings and potential hazards. Do not rush. Instead, take your time getting up from a seated or lying position.

It’s also important to keep up with exercises to improve your balance and coordination, eat a healthy diet, maintain good hydration, and get adequate rest.

Frankie Perrazola is a personal trainer based in Southern California who was diagnosed with FA in 2015. She understands how FA can affect every part of a person’s life, as she is a full-time wheelchair user, has slurred speech, and has to rely on others for almost all tasks.

From personal experience, she knows to be careful with overhead movements, and not to stand up if she doesn’t feel safe.

“Most of the FA folks I’ve worked with, including myself, we are very strong pushing up overhead but, on the descent down, we have a higher risk of hitting our heads with the weight or object because of the shakes,” she says. “Letting ego and pride get in the way of being able to do something correctly is more detrimental than anything.”

Avoid excessive use of alcohol, as it can make ataxia worse, which can lead to falls. Also avoid smoking, as it can worsen your lung capacity and affect your heart health.

Discuss medications with your healthcare provider. Get regular eye exams, as poor vision can contribute to falls.

Have a fall response plan ready, including how to call for help, and how to regain your footing safely, if possible. Tell your family and caregivers about this plan, and also about any precautions they can take to help you prevent falls.

Consider having a wearable device or voice-activated emergency alert system, so you can request help in the case of a fall or other emergency.

Family life

FA can have a significant impact on family life as a child gets older.

Because FA is usually diagnosed in early adolescence (between ages 10 and 15), explaining the condition and helping them understand what to expect in the future may be one of the first challenges a family faces.

A diagnosis of a potentially debilitating condition like FA can be emotionally challenging for both the child and their family. Feelings of sadness, grief, and anxiety are common as everyone comes to terms with the new diagnosis.

Online and in-person support groups can be invaluable, as is support from healthcare professionals.

Starting your own family

When you're ready to start a family, you may want to consider the genetics of the disease and how it is inherited.

FA is an autosomal recessive genetic disorder. This means that both parents must pass a mutated FXN gene for their child to inherit the condition.

If one partner has FA and the other does not carry the mutated FXN gene, their children will not inherit FA but will be carriers. If both partners are carriers, there is a 25% chance of having a child with FA.

For couples who have a known family history of FA, prenatal testing may be considered to determine if their unborn child has FA.

School life

Deciding whether your child with FA should attend a school that can provide an education personalized to their condition depends on their specific needs, the available educational options, and the personal choice of the child and parents.

Inclusive education, where a child with FA learns alongside typically developing children, can promote social integration, and works well if the school is able to provide necessary accommodation and support.

When choosing a school for a child with FA, evaluate its accessibility by checking for ramps, elevators, wide hallways, and accessible restrooms. Check if the school uses assistive technology, such as voice-to-text software or adaptive learning materials.

Work with the school to develop an individual education plan that outlines specific educational goals, accommodations, and support services to promote academic success.

Open and regular communication between parents and teachers is crucial. Teachers should be told about your child’s condition and its progression, and any specific modifications needed. Getting supportive services in the school setting, such as physical and occupational therapy, can also be beneficial.

When your child moves to higher grade levels, or a new school, coordinate this plan with the school staff for a smoother transition.

It’s important for parents, caregivers, educators, and school staff to work together so your child can thrive academically and socially.

Adaptive equipment

Aids and adaptations to assist with mobility and support daily activities help make living with FA easier.

“Adaptive equipment allows the freedom of a physically disabled individual or older adults to do things the way their body wants safely,” Perrazola says. “It also gives us a sense of independence being able to do stuff or just makes it easier to use because we don’t have to adjust everything or transfer.”

Adaptive equipment may include mobility aids such as walkers, rollators, wheelchairs, scooters, and motorized shopping carts.

Adaptations can be made around your home, such as making the bathroom more accessible with non-slip items like mats and a shower bench, grab rails on the walls and in the bath, or doing a complete retrofit to accommodate a wheelchair.

Adaptive clothing designed for wheelchair users and people with limited mobility can simplify dressing and provide you with increased range of movement. For example, clothing may have snap or Velcro fasteners, magnetic buttons, or one-handed zippers.

Similarly, adaptive cups, plates, bowls, and utensils can make eating easier. This might include cutlery with grips or angled and bendable handles that are easier to grasp, or plates and bowls with higher sides to avoid spills.

Exercise and physical therapy

Exercises should be tailored to specific needs, abilities, and interests. While you should consult your healthcare provider or physical therapist for guidance, there are some general exercises you may want to consider.

Look for exercises that are suitable for your level of mobility and energy. Gentle exercises, such as seated yoga or swimming, can help you maintain physical fitness.

Perrazola says there are ways to incorporate exercise into your daily routine.

• Set realistic and achievable goals and don’t make it complicated.
• Pick a few movements that you enjoy and are somewhat challenging, and practice them every day until you get a little bit better.
• Over time, once you feel more comfortable doing those movements, you can increase the difficulty by adding weight and increasing reps and sets.

Try gentle stretches to prevent stiffness in your limbs, neck, and back, and to maintain mobility. Strength exercises using light weights, resistance bands, or your body weight, can help maintain muscle function and prevent atrophy.

Find exercises that mimic your everyday activities. For example, do seated or supported standing activities like reaching for objects on a table, or practice transferring your weight in and out of a wheelchair.

Breathing exercises can help maintain lung function by improving respiratory muscle strength.

Physical therapy for Friedreich’s ataxia includes low-intensity strengthening exercises that aim to prevent immobility and preserve the functionality of upper and lower extremities.

Along with strength training, your therapist may work with you on coordination exercises to improve your sense of balance, position and motion, along with gentle aerobic exercises to improve your cardiovascular health.

Diet

Dietary modifications can help you manage your FA, particularly if you have difficulty chewing and swallowing. While there is no specific diet for FA, a balanced and nutritious diet can help your overall health. Eating meals and snacks at regular intervals can also help you manage your energy levels.

A well-balanced diet includes a variety from all food groups, such as fruits, vegetables, whole grains, lean proteins, and healthy fats. Avoid processed meats, and be sure to drink plenty of liquids.

A registered dietitian can give you nutritional advice suited to your specific needs and challenges related to FA. For example, a dietitian can help you choose foods that are softer and easier to chew, or that can be chopped or pureed to make them easier to swallow to help avoid choking. They might also suggest eating smaller, more frequent meals, as this may help with problems with swallowing.

Mental health

Coping with a progressive and disabling condition like FA can lead to emotional and psychological challenges, including anxiety and depression, and feelings of isolation and uncertainty about your future.

There are a number of coping strategies that you can use, along with getting professional support, and, if needed, medication for mental health disorders such as anxiety and depression.

Consider consulting with a mental health professional, such as a therapist or counselor, who has experience working with people living with chronic illnesses. They can offer you emotional support and coping strategies.

Jack Veitch, manager of Community Engagement and Education with the Canadian Mental Health Association (CMHA) in Haliburton, Ontario, says educating yourself about FA can be a starting point for better mental health.

“Physical symptoms can present differently from illness to illness, but there are always baseline factors that we can key on that are going to benefit mental health,” he says.

Rather than waiting for a mental health problem to arise, build skill, resiliency, and awareness ahead of time, so you have the tools to activate a plan for wellness, he says.

“Education is such a key piece to strengthening mental health,” Veitch says.

Here are other tips to help with your mental health:

• Set achievable goals for yourself, both short-term and long-term, and celebrate your accomplishments.
• Practice relaxation techniques such as deep breathing, meditation, and mindfulness to help manage stress and anxiety.
• Identify and minimize sources of stress in your life, whether related to FA or external factors.
• Exercise according to your ability, as this can release endorphins, which are natural mood lifters.
• Explore your creativity, such as making art, writing, or playing music.
• Maintain social connections with your family and friends — talking with them and sharing fun activities can give you a mental health boost.
• Understand that it’s OK to have challenging emotions, and that you need to practice self-compassion.

Useful resources and support

Connecting with FA-specific support groups or online communities will allow you to share experiences with others who understand the challenges of living with the disease. It can also help with feelings of isolation and give you a sense of belonging.

Support groups also allow families to share experiences, knowledge, and advice.

Connecting with organizations that specialize in FA advocacy and research can help you find information, resources, and opportunities for getting involved in the FA community.

The Friedreich’s Ataxia Research Alliance offers resources for parents of a newly diagnosed child, and support groups for those living with FA.

There are also support groups such as the FA Parents Group, along with the columns and forums at Friedreich’s Ataxia News.

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Friedreich’s Ataxia News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.