Living with thymidine kinase 2 deficiency (TK2d) can affect many aspects of daily life, from emotional well-being to basic movement and breathing. Many people with the disease benefit from palliative care as part of their overall treatment plan.
What is palliative care?
Palliative care focuses on improving quality of life by helping manage symptoms, reducing physical and emotional stress and supporting both patients and caregivers. Instead of focusing on what will keep a patient’s body living the longest, palliative care takes a step back and asks a patient and their family what living well means to them, and then supports them in living well for as long as possible.
Unlike hospice care, palliative care can begin at any time. It can also be provided alongside disease-targeted therapies and other supportive treatments for a holistic approach to care.
Who provides palliative care in TK2d?
Palliative care is provided by palliative care specialists who work alongside a patient’s main care team.
The care team commonly involved in TK2d care includes:
- Neuromuscular neurologists.
- Pulmonologists.
- Gastroenterologists.
- Nutrition specialists.
- Physical therapists.
- Orthopedists.
- Speech and swallowing therapists.
- Psychologists or psychiatrists.
- Social workers.
Collaboration of care teams helps coordinate this support while focusing on symptom management and day-to-day functioning. The goal is to help patients remain as comfortable and independent as possible.
What palliative care might look like
Respiratory support
Breathing problems are a major concern in TK2d because respiratory muscles can weaken over time. Patients may need:
- Pulmonary monitoring.
- Airway clearance techniques.
- Noninvasive ventilation support.
Early respiratory care may help reduce complications and hospitalizations.
Read more about how respiratory therapy can help in TK2d
Nutrition and swallowing support
Good nutrition is an important part of supportive care in TK2d and other mitochondrial diseases. Patients may benefit from regular meals, adequate hydration and nutrition plans tailored to their energy needs and symptoms. Some people may also benefit from nutritional supplements or support from a dietitian experienced in mitochondrial disorders.
As muscle weakness progresses, speech difficulties and chewing and swallowing issues can develop, increasing the risk of choking, dehydration, or inadequate nutrition. Speech and swallowing specialists can help identify safer eating strategies and recommend texture-modified foods when needed. In some cases, feeding tubes, such as gastrostomy tubes, may help reduce these complications and support adequate nutrition.
Physical and occupational therapy
Physical and occupational therapy can help people with TK2d stay active and maintain as much independence as possible. Carefully adapted exercise and stretching programs may help support mobility, posture, joint flexibility and overall physical function while accounting for a person’s energy levels and exercise tolerance.
Overexertion should be avoided because it may worsen fatigue and muscle symptoms in mitochondrial disease.
Pain and emotional health
People living with mitochondrial diseases may experience chronic pain, fatigue, anxiety or emotional stress. Palliative care teams can help address both physical and psychological symptoms while also supporting caregivers and family members.
Planning ahead and building a support network
Palliative care also helps families prepare for changing medical needs over time. This may include discussions about emergency care plans, mobility aids, home support services and school or workplace accommodations. Supportive equipment, such as walkers, wheelchairs, ankle braces or positioning supports, can make everyday activities safer and easier to manage.
Even with recent advances in targeted disease treatment, supportive and palliative care remain important components of comprehensive disease management.
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