Specialist input

Given the different concerns that can arise, like many of the HDCT a number of specialist health and social care services may become involved in supporting an individual and families. These might include:

Audiologists,

Cardiologists,

ENT surgeons,

maxillofacial and craniofacial surgeons,

Neonatologists and Paediatricians,

Nurses (specialist and school nursing),

Nutritionists,

Ophthalmologists,

Oral surgeons,

Orthodontics,

Orthopaedics,

Occupational therapists,

Physiotherapists,

Rheumatologists,

Social services, and

Speech and Language therapists.

Approaches to Care

Medical: e.g. pain relief, management of glaucoma,

Therapies for speech, and joint and muscle concerns (splints, braces, aids, physiotherapy),

Hearing aids,

Glasses and contact lenses, and regular eye checks,

Feeding aids, particularly critical in new borne and infants prior to any surgical correction to the palate, jaw and airway,

Specialist aids and care for protecting breathing / airways,

Educational support,

Surgery to e.g. eyes, jaw, palate, throat, and joints.

 

The detail of all the practical and surgical interventions is beyond the scope of this article.

For the vast majority with Stickler syndrome life expectancy is normal and individuals will lead full lives. However the complications described above may manifest and respond to treatment in varied ways such that for some individuals day to day function and ability may be affected in different and potentially life-changing ways.