Pompe disease is a progressive genetic condition marked by severe muscular weakness that leads to mobility and respiratory problems, as well as difficulties with speech and swallowing (dysphagia).
Treatment options, such as enzyme replacement therapy (ERT), help patients to manage some disease symptoms by reducing glycogen buildup within cells. But many will also need supportive therapies, addressing symptoms that range from cardiac problems to indistinct speech.
How speech therapy can help
Weakness in facial muscles can cause the speech of people with Pompe disease to sound slurry and nasal, with problems in articulating sounds and speech intelligibility.  Hypernasal speech is also often accompanied by an inability to swallow effectively, and an accompanying aspiration risk.
An enlarged tongue and poor tongue motor control also are common in Pompe patients, especially those with infantile-onset disease. Respiratory problems can also complicate speech.
Speech therapy, accompanied by ERT or other more systemic treatments, given by a trained specialist can help to improve patients ability to articulate, so that they better express their needs and thoughts, and interact with others.
Speech therapy with ventilation
Many Pompe patients experience a worsening of respiratory problems with time, and may require mechanical ventilation to breathe. Respiratory insufficiency, in fact, is common to both the infantile-onset and late-onset forms of Pompe disease.
Patients on mechanical ventilation may undergo a tracheostomy, a surgical procedure used to place a breathing tube directly into the trachea, or windpipe.
Speaking requires that air pass from the lungs through the voice box, allowing vocal cords to vibrate and make sound. However, oxygen supplied to people breathing via a tube or ventilator does not pass through the vocal cords.
A speech therapist or speech-language pathologist can help patients using a trach tube or ventilator to speak, whether by briefly blocking the tube’s opening with a finger so as to push air into the mouth,  or by learning to speak with the cycles by which a ventilator pushes air out of the body.
Difficulties faced in speaking on ventilation can differ depending on the extent of ventilation needed, whether continuous or intermittent.
A trained therapist can assess patients who have had a tracheostomy, and determine the best approach for restoring speech.
Non-verbal communication
Patients with very severe symptoms may not be able to speak at all, and other ways of communication may be necessary. These can include use of picture books, a pen and paper, sign language, and devices such as voice output communication aids that range from tools to verbalize a simple message to a computer-generated voice.
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