Sascha Gallardo - September 28, 2023
Spinocerebellar Ataxia (SCA) is an inherited disorder that primarily affects the cerebellum, the part of the brain responsible for coordination and balance. It is characterized by progressive deterioration of speech, hand and leg movements, as well as ocular functions.
There are currently more than 40 types of SCA, categorized using numerical designations such as type 1, type 2, and so forth. [1] All of these types exhibit the main features of ataxia, although each one includes specific distinguishing features such as whether the symptoms progress slowly, or if they include other symptoms like seizures or loss of vision.
SCA is an autosomal dominant disorder. Because of this, a single mutated copy of the responsible gene from either parent can already lead to the development of the condition. This also implies a 50% probability that each child may inherit the disorder, resulting in nearly every generation having at least one affected individual. [2]
This disorder, however, is rare and is not well known even within the medical community. This causes many patients to struggle with symptoms for many years without an accurate diagnosis. Moreover, some types of SCA undergo a phenomenon called anticipation, which refers to the inclination for a disease to progress more severely across generations within a family. [3] Because of this, it is possible for the children to experience an earlier age of onset and faster deterioration than the affected parent.
There is currently no cure or US FDA-approved medications to alleviate the symptoms or provide neuroprotection for SCA. [4] Typical interventions involve occupational, physical, and speech therapies. And given that SCA is a progressive condition, its impact on both patients and their families intensifies over time, affecting multiple facets of their lives, including day-to-day activities, education, work, finances, and emotional well-being.
Daily Life of Patients
SCA significantly impacts the patient’s daily life by gradually eroding their physical abilities and introducing various challenges. The progressive loss of coordination and balance makes even basic movements difficult. For instance, walking can become hazardous, especially on uneven surfaces or stairs. Driving also becomes unsafe and household chores can be physically demanding. As a result, patients often need to make substantial adaptations to maintain independence, like modifying their home environment and using alternative forms of transport.
Beyond the deterioration in motor skills, SCA also affects speech. Individuals may find it increasingly challenging to express themselves clearly, leading to communication difficulties in both everyday conversations and more formal settings. This may eventually limit their participation in social gatherings and lead to reduced social interaction.
Then as the disease reaches an advanced stage, patients often require assistance with daily activities. They may struggle to grip and twist jar lids or bottle caps, making it difficult to access food and beverages independently. Maintaining personal hygiene, including showering, brushing teeth, and combing hair, may also become challenging later on.
The cumulative impact of these difficulties underscores the need for support, adaptive strategies, and assistive devices to help individuals affected by SCA maintain their quality of life to the greatest extent possible.
Work and Education
As SCA deeply influences the daily lives of patients, its challenges extend beyond personal routines and interactions, significantly affecting their educational pursuits and professional endeavors. Students, for instance, may find it hard to move through crowded hallways or climb stairs. Certain subjects or courses can also be arduous for them, specifically those that demand fine motor skills and hands-on activities, such as writing, drawing, or conducting experiments.
Depending on the progression of their disease, students may need to request accommodations from their educational institutions or reconsider their choice of major. In some cases, however, they may have to forgo pursuing higher education altogether.
In the workplace, the effects of SCA can differ significantly among individuals. Some patients successfully adapt and continue working, depending on their condition and its limitations. Others may opt for alternative career paths, such as remote employment or entrepreneurial ventures. Nevertheless, it is not uncommon for some patients to face the difficult decision of forsaking their source of income, primarily due to the severity of their symptoms. Such choices can have a huge impact on their sense of self-worth, social connections, and financial stability.
Financial Challenges
Individuals with SCA and their families often face significant financial challenges due to the progressive nature of the disease. First and foremost, patients often require ongoing medical care, which includes frequent sessions with therapists to enhance strength and mobility, acquire adaptive skills for daily independence, and address speech and swallowing challenges. These frequent medical appointments can undoubtedly lead to substantial expenses.
Additionally, the costs of assistive devices and home modifications to accommodate the changing needs of individuals with SCA can be burdensome. Mobility aids like wheelchairs, walkers, and home renovations for accessibility can be expensive, and insurance coverage for these items may be limited. In some cases, patients may require in-home care or assisted living arrangements, which can be a considerable financial burden.
Unfortunately, SCA can affect more than one individual within a family. In such cases, the family may find themselves facing multiplied expenses. This can place significant strain on their financial resources and often necessitates seeking additional sources of support to meet the complex needs of individuals impacted by SCA.
Emotional Challenges
The emotional impact of SCA affects not only the patient but also their loved ones. For the patients, it brings a deep sense of loss as they grapple with the limitations imposed by SCA. Additionally, the disorder’s impact on their independence adds emotional distress as they increasingly rely on others for daily tasks.
Furthermore, these emotions can be intensified by bouts of depression and anxiety, especially when facing an uncertain future and the potential deterioration of their physical abilities. Coping with the relentless progression of the disease can be emotionally overwhelming, impacting self-esteem and the sense of self-worth.
Similarly, family members and friends of patients experience their own emotional turmoil. Witnessing a loved one’s decline can evoke feelings of sadness, empathy, and helplessness. Children, especially, may also fear what’s in store for them when they witness their parent’s decline, particularly if they already know that SCA is hereditary.
On the part of the caregivers, feelings of frustration may arise as they work to provide care and support while the dynamics of their relationship change. This frustration can stem from the emotional toll caregiving takes, as well as from the difficulties encountered in daily life due to their loved one having the disease.
Overall, SCA can create a complex emotional landscape for both patients and their loved ones. Open communication, access to emotional support resources, and participation in patient groups can help individuals affected by SCA and their families foster resilience in the face of this life-altering condition.
Summary
SCA profoundly influences both the patients and their families, disrupting daily life as it gradually erodes physical abilities. These challenges extend beyond personal routines, affecting education and work as struggles with speech, mobility, and fine motor skills can lead to necessary adjustments in their professional and educational journeys.
Financially, SCA poses a significant burden considering the weight of substantial medical expenses, assistive device costs, and home modifications. These financial challenges compound the emotional toll of the disease, which extends to patients and their loved ones, evoking feelings of loss, sadness, and frustration.
Diagnosing SCA can be particularly challenging due to its rarity, often leading to prolonged uncertainty for individuals affected by the condition. Raising awareness about this condition within both the medical community and the general public is crucial to improve early diagnosis rates, access to appropriate care, and even increase the chances of finding a cure through heightened research interest.
Additionally, support groups play a vital role in helping patients and their families navigate the complex challenges of SCA. These groups provide a platform for sharing experiences, information, and emotional support, fostering a sense of community and resilience among those affected by this rare but life-altering condition.
Ben’s Friends has a free and safe online support community for people affected by ataxia. Share this blog or join our Living with Ataxia Patient Community to get in touch with people who truly understand what you’re going through.
References:
[1] Cleveland Clinic (n.d.) Spinocerebellar Ataxia. Spinocerebellar Ataxia (SCA): Symptoms, Causes & Types
[2] National Human Genome Research Institute (Updated 2023) Autosomal Dominant Disorder. https://www.genome.gov/genetics-glossary/Autosomal-Dominant-Disorder
[3] Paulson, Henry L. (2010) The Spinocerebellar Ataxias. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2739122
[4] Ghanekar Shaila D., Kuo Sheng-Han, Staffetti Joseph S., Zesiewicz Theresa A. Current and emerging treatment modalities for spinocerebellar ataxias. Expert Rev Neurother. 2022 Feb;22(2):101-114. doi: 10.1080/14737175.2022.2029703. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9048095/