How to manage obstructive sleep apnea as a 50-year-old woman?

Question

Hello doctor,

I am a 50-year-old woman diagnosed with severe obstructive sleep apnea secondary to osteopetrosis. This condition is caused by osteoclastic dysfunction and results in multiple skeletal anomalies. I have sustained 28 fractures, am totally blind, and have poor dentition.

The mechanism of my sleep apnea is believed to be cranial and facial bone overgrowth, resulting in a narrowed trachea, although I have not undergone drug-induced sleep endoscopy to confirm this hypothesis. A tracheostomy was performed after my sleep apnea progressed significantly, and alternative treatment modalities were not available at that time.

After the tracheostomy tube I had been using was discontinued, I explored whether continuous positive airway pressure therapy could replace the tracheostomy. I subsequently underwent a level 1 polysomnography study with the tracheostomy tube capped. After trial and error, bilevel positive airway pressure therapy was found to be effective at settings of 21/11 cm H₂O.

I was later decannulated, which resulted in a persistent cutaneous tracheal fistula that currently prevents me from using the BiPAP machine.

Please advise.

Thank you.

Answer 1

Hello,

Welcome to icliniq.com.

Thank you for reaching out and explaining your symptoms in detail.

Your situation is medically complex but very clearly described, and what you are experiencing is consistent with your unique anatomy and clinical history. Your obstructive sleep apnea is structurally driven by craniofacial and upper airway skeletal overgrowth related to osteopetrosis, which explains why it was severe from childhood and ultimately required tracheostomy long before modern noninvasive therapies were available. The capped polysomnogram demonstrating effective control of apnea with high-pressure BiPAP (bilevel positive airway pressure) at 21/11 cm H₂O confirms that positive airway pressure can overcome the fixed upper airway narrowing, even without direct sleep endoscopy.

However, the persistent cutaneous tracheocutaneous fistula following decannulation creates a pressure leak that effectively vents the delivered airway pressure, rendering BiPAP ineffective or intolerable, particularly at the high pressures you require. This represents a mechanical limitation rather than a failure of BiPAP therapy itself. In patients with a similar history, definitive closure of the tracheocutaneous fistula is often necessary before noninvasive ventilation can be used reliably, and this typically requires surgical repair rather than spontaneous closure, especially after decades of tracheostomy dependence. Until the fistula is closed, effective nocturnal positive pressure ventilation is very difficult to achieve.

Given your underlying skeletal disease, blindness, and long history of airway compromise, optimal management ideally involves a multidisciplinary team including sleep medicine, otolaryngology, and thoracic or plastic surgery with experience in fistula closure. Your history strongly supports that BiPAP is a viable long-term replacement for tracheostomy once the fistula issue is addressed, and your prior sleep study provides objective evidence to support pursuing this pathway.

I hope this was helpful.

Thank you.