Jennifer Trust Information Information Sheet N° 004.
Developed in conjunction with Health & Social care practitioners, parents of and individuals affected by Spinal Muscular Atrophy.
"Shortly after we received the diagnosis of Type II SMA, several professionals became involved. In all honesty we did not really understand who they all were and what they all did. Some kind of list, or description would have been really helpful."
GP
General Practitioners, usually most people's first point of call in terms of health issues. Many G.P's will be unfamiliar with SMA, but are a valuable source of regular healthcare. Children still need their immunisations and are vulnerable to normal childhood illnesses. A positive relationship with your GP is an important part of health care, the ability to voice any concerns you may have is very useful and of course your GP is in the right person to monitor day to day health.
Health Visitor
A registered nurse with an additional qualification in childcare and community issues. Employed by the health authority the health visitor is able to advise and put you in touch with the appropriate local services. They can often provide advice and help on simple health issues, perhaps in a more informal way than other healthcare professionals.
Specialist Health Visitor/ Community Paediatric Nurse
Sometimes takes over from the health visitor when a disability or special need is identified. Gives support, advice and information on disability issues and resources
Physiotherapist
A physiotherapist will provide a range of exercises and stretches appropriate to the child/individual. The Physiotherapist can give advice on methods of managing contractures & scoliosis and may be able to help with advice about positioning and seating. Working alongside the parent/individual a suitable exercise programme can be established to help maximise function and reduce discomfort.
Paediatrician
A doctor who has specialised in children's medicine. Many families see their paediatrician on a regular basis to monitor general health and development. Also paediatricians will be able to refer you to a particular specialist when needed.
Neurologist/Paediatric Neurologist
A specialist in neurology sometimes specifically with children. Able to advise on the management of the condition and organise specialised tests and monitoring.
Orthopaedic specialist
Specialist in the bone structure. Will monitor the development of contractures (tightening of the muscles) and Scoliosis (curvature of the spine). Where there is developing scoliosis, an orthopaedic specialist will be able to advise on suitability and timing of any intervention.
Geneticist
A specialist in Genetic Medicine, will be able to explain the issues relating to inheritance and the genetic implications. Will provide statistical information in relation to potential risk and recurrence. Can also let you know about current pre-natal testing that is available.
Occupational Therapist (OT)
Provides advice on daily living issues i.e. Bathing and toiletting etc. They will also be able to advise on Housing and Housing Adaptations. O.T's are usually provided by Social Services or the Health Authority
Family Care Officers
These are employed by The Muscular Dystrophy Campaign and come from a variety of professional disciplines. A quote from MD fact sheet: "An FCO is experienced in all needs that having a neuromuscular condition can entail, and therefore can support people in their contacts with other professionals"
This Information Sheet is by no means exhaustive; these are the people most likely to be involved following a diagnosis. | 
