Managing thymidine kinase 2 deficiency (TK2d) symptoms and their impact on daily life means working with a multidisciplinary team of specialists across many areas of care. A speech therapist can be an important part of that team. Also called speech-language pathologists, speech therapists are experts in communication and swallowing problems who can help patients find better ways to make speech sounds, chew and swallow.
Why does TK2d affect speech?
Muscles rely on the energy produced by mitochondria to function normally. In TK2d, depleted levels of mitochondrial DNA in muscles mean the mitochondria don’t produce enough energy, leading to muscle weakness.
The progressive weakening of muscles in the face, mouth, throat and respiratory system caused by TK2d can impair speaking and swallowing. Without supportive care, the function of these crucial muscles can significantly reduce quality of life, with potentially life-threatening consequences. Many patients with TK2d are eventually unable to speak clearly enough to be understood by most people, if they are able to speak at all, and the fatigue and choking risks of eating may mean a feeding tube is eventually necessary.
Read more about TK2d care teams
How does speech therapy help?
A speech therapist can help support people living with TK2d in improving speech clarity, strengthening mouth and throat muscles and introducing alternative communication devices when needed. As the disease progresses, this support can be key to managing muscle weakness in the face and throat. Specifically, a speech therapist can help:
Work on speech clarity: As muscles in the tongue, lips and jaw weaken, speech becomes slurred. The difficulty of articulating words and sounds causes additional muscle fatigue. A speech therapist can teach techniques that help patients articulate more clearly.
Strengthen mouth and throat muscles: These muscles are essential to speaking, chewing, swallowing and breathing. A speech therapist can provide muscle-strengthening exercises to support function and reduce fatigue.
Teach safe swallowing techniques: As swallowing muscles weaken, the onset of dysphagia (difficulty swallowing) can lead to the accidental aspiration of food, pneumonia and poor nutrition. Learning strategies to manage dysphagia will reduce the risk of choking. Less effort and lower levels of eating-related anxiety will also help reduce fatigue. When the time comes, a speech therapist can evaluate a worsening swallowing function and advise on the need for a feeding tube.
Suggest communication alternatives: If speaking becomes severely impaired, augmentative and alternative communication (AAC) methods offer several modes of communication using a variety of assistive devices. A speech therapist will introduce some suitable options based on individual needs.
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