Introduction

Definition of palliative care

Palliative care is a supplemental service that can prove valuable for those diagnosed with a terminal disease such as cancer or a fatal genetic condition. This type of care is used to help make people more comfortable and improve their quality of life in their current and future state of health.¹ It is important to realize that palliative care may be given with or without other treatments designed to provide symptom relief or make the disease better.

Introduction to batten disease

Batten disease is a fatal genetic condition that is usually diagnosed in childhood. This disease leads to a build-up of toxins (or “trash”) in the cells that cannot be properly cleaned out. The cells cannot properly remove these toxins and they will eventually die. While the nervous system (brain and spinal cord) seem to be affected more than other cells, the body does become overwhelmed at some point, usually before adulthood, and the individual dies.

Importance of palliative care in batten disease

There is currently no cure for Batten disease. There is a recently approved enzyme replacement therapy in use but it is not available everywhere, only works for one subtype of Batten disease, and does not cure the disease but slows its progression. There are also several therapies currently being researched. These are not proven or approved for mass use. Therefore, palliative care to decrease the symptoms and increase the quality of life (make the individual more comfortable and able to participate in their desired daily activities) is the current treatment philosophy.

Understanding batten disease

Definition and overview

As mentioned above, Batten disease is a genetic disorder. It occurs when both mom and dad have a copy of a specific defective gene and the foetus inherits the defective copy from both parents. Simply put, the gene causes a faulty protein to be made. This means the body cannot break down and remove the normal waste products of life. Due to this build-up of cellular waste, the cells eventually become full of “trash” and die. When the body can no longer replace enough cells the individual will die.  

Prognosis and challenges

Batten disease is typically diagnosed with specific testing done for seizures (epilepsy). This conclusive test evaluates the gene mutation (CLN) known to cause Batten disease. Other advanced tests such as magnetic resonance imaging (MRI) or electroencephalogram (EEG) can show abnormalities but are not used for a diagnosis. These tests look at the structure and functioning of the nervous system organs such as the brain, eye, and spinal cord.

Typically, children with Batten’s disease will be evaluated after the parent notices that they may not be meeting their appropriate developmental milestones, are having blurry or double vision, are not walking straight, or are even having seizures. Eventually, the child will lose the ability to see, speak, walk, and swallow leading them to be bed or wheelchair-bound until they die.

Palliative care in batten disease

Definition and scope of palliative care

As stated above, palliative care is a special type of medical care provided to people experiencing a terminal illness. This care may include typical medical treatments (medications, procedures, tests, etc.) or more holistic interventions  (eating or not eating specific foods, improving sleep, massage, or meditation practices). While both medical and non-medical interventions can provide symptom relief on their own, usually tactics from both categories are used in tandem. In the case of Batten disease, medical and non-medical “treatments” are used to help alleviate suffering and improve the child’s quality of life.

Goals of palliative care in batten disease

It has already been mentioned that there is not currently an approved curative treatment for Batten disease. Therefore, until there is, affected individuals and their families must know what measures can be taken to help reduce symptoms and make them more comfortable in daily life. Since life cannot be prolonged in this condition, comfort is the most important factor. As this is usually a fatal disease in childhood, parents or caregivers are a critical part of their child’s care plan. Parents or caregivers are also the biggest advocate for their children and it is important that they be aware of all palliative options to improve their child’s quality of life. Palliative care interventions must be straightforward and easy to apply so that caregivers can feel confident and know they are doing what is best for their child.

Interdisciplinary approach to palliative care

Since medical and non-medical methods can be used to reduce symptoms of Batten disease and make the child more comfortable, numerous teams will be involved in coordinating the child’s care. These teams may include: 

• Neurology (doctors who focus on the brain and nervous system)
• Ophthalmology (eye doctors)
• Physical therapy

Children may also be prescribed medications to help with symptoms. It is critical to have a good relationship with the family doctor or general Practitioner (GP).

Quality of life considerations

Quality of life is often a topic that may be overlooked when a terminal condition is first diagnosed. However, after the initial event prompting the diagnosis has occurred and the individual is stabilized, thought needs to be given to the daily impact that the disease will have on the individual and their family.

Physical symptoms management

In the case of Batten disease, as the disease worsens the child will gradually lose their ability to see, walk, talk, swallow, and overall function normally. There are medications available that can be used to help relieve symptoms and promote better functioning in daily life. These include medications to: 

• Manage seizures
• Help relax tight, clenched muscles
• Help reduce hallucinations and improve sleep

Physical therapy is also a key intervention to help slow the changes in the ability to walk and move.

Emotional and psychosocial support

It is easy to imagine that receiving a life-altering diagnosis like Batten disease will cause a great deal of psychological turmoil. This applies not just to the child but also to the family whether that be a parent, sibling, or non-relative caregiver. The medical team caring for the child with Batten disease is well-placed to initiate the process of addressing and providing help for the emotional struggles associated with this diagnosis. Some specific resources include psychologists, counsellors, and Batten disease support foundations. 

Family and caregiver support

In the UK the Batten Disease Family Association provides great support. They serve many functions. These include:

• Raising awareness of Batten disease
• Connecting families who have an affected child (or adult)
• Providing education for the general public
• Raising funds for continuing research to develop a cure

There are other support groups and foundations throughout the world which have similar goals and missions. Overall, whether support is provided through a “smaller” medical setting (such as the hospital or clinic where the diagnosis was made) or on a larger scale through a foundation, the goal is to provide education and support to those directly impacted by the diagnosis and to raise funds for research into potentially curative treatments.

Challenges and barriers

Access to palliative care services

Palliative care is a newer option in medicine. As such, it may not be as available as more historical treatments. Staff shortages of trained palliative care professionals are also a problem not isolated to the UK.² Since palliative care is a specialty service the affected individual’s family may need to seek additional resources outside of their traditional care setting. Palliative care may also be difficult to access since it may not be paid for by governmentally-provided healthcare.

Communication challenges

Sometimes, palliative care is confused with hospice care. These services are not the same but this can present a challenge when palliative care is suggested to help manage a loved one's symptoms.² As already mentioned, palliative care is a newer speciality. GPs or other medical professionals unfamiliar with palliative care, may not realize the potential benefits and may not recommend palliative support. 

Ethical considerations

The main concerns with ethical principles in palliative care come down to ensuring that the individual and family know that palliative care does not equal “doing nothing” and does not limit their ability to receive other approved treatments.³ As mentioned by Mitchell’s team (2021), children usually accept that their diagnosis is just now a “normal” part of their life. However, parents and caregivers voiced frequent frustration that they had to constantly fight for support in their healthcare system to receive the appropriate palliative care. This should not be the case. Palliative care is just as important if not more so, to ensure that the best quality of care is given.

Advocacy and policy changes

Currently, as briefly alluded to above regarding funding for palliative care specifically in the UK, there are clear areas for improvement to ensure an early and excellent integration of palliative care for individuals with Batten disease. Policy change needs to be made to guarantee access to care for all.

Summary

Palliative care is a wonderful tool that can supplement the very few options available to treat Batten disease. Since this disease will ultimately lead to the loss of vision, speech, and the ability to swallow and walk before ultimately ending in death, palliative care can provide interventions that focus on improving the quality of life while also minimizing symptoms. Not only can palliative services help to meet the physical needs of the affected individual but they can provide support and access to services that benefit the family or caregivers as well.