What are the first steps after an initial diagnosis of Klippel-Feil syndrome?
After a diagnosis of Klippel-Feil syndrome (KFS), it is important to build a team of medical specialists based on the way in which KFS affects the person living with the condition. The team could include an array of health care providers such as a neurologist, neurosurgeon, orthopedist, cardiologist, pulmonologist, otolaryngologist (ENT) , nephrologist, and an Ob/gyn These doctors can order the critical evaluations required to determine if any other health issues seen more frequently in KFS are present and develop a personalized monitoring and treatment plan. Further testing will depend on initial findings and symptoms, but often will include testing of the heart, kidneys, scan of entire spine, and lung function. Although there is not a disease specific treatment at this time, treatment for individuals with KFS aims to provide relief from any symptoms and supportive care. Treatment can range from modification of activities to extensive spinal surgery. Some individuals with hearing impairment may benefit from the use of specialized hearing aids. A variety of conservative measures can be helpful including cervical (neck) collars, traction, back braces, physiotherapy, non-steroidal anti-inflammatory drugs (NSAIDs), and various pain medications. Physical therapy, massage, aquatic therapy, and craniosacral therapy may also be recommended. It can be very helpful to connect with a support and advocacy group such as Klippel-Feil Freedom to access their support, tips, and resources who have pages designed to help at the time of diagnosis What to do when you or your child is diagnosed with Klippel-Feil Syndrome .
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/klippel-feil-syndrome-109938/treatment/66934 • DATE UPDATED: 2019-07-26
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