Who can help?
The variety of signs and symptoms associated with Fabry disease means that both its diagnosis and treatment require input from a number of different healthcare specialists.
In the first instance, you may be referred to a specialist centre or genetic laboratory for confirmation of the diagnosis. This may be because another member of the family has been diagnosed, or because a certain combination of symptoms may lead your doctor
to suspect Fabry disease.
Once a diagnosis of Fabry disease has been made, you may be referred to a specialist centre for co-ordinated consultations and ongoing treatment. In England, patients need to be referred to one of the specialist centres for confirmation of the diagnosis and appropriate treatment and monitoring. All centres have been designated by the Department of Health National Commissioning Group to provide treatment and monitoring for patients with Fabry disease or other lysosomal storage disorders. In other areas you may be referred to a regional genetics service.
A number of doctors, nurses, therapists and counsellors may be involved in the management of Fabry disease:
General practitioner
Your local GP may have been the person with whom you first discussed your symptoms and who made the initial referral to see a specialist. He or she will also be responsible for your day-to-day health and should be kept informed about the treatments you are receiving at the specialist centre.
Specialists in metabolic diseases and lysosomal storage disorders
These are hospital doctors who specialize in diseases that affect how the body makes and breaks down substances. They will also have experience in the genetic side of such diseases. These specialists will often be the doctors who confirm a diagnosis of Fabry disease and co-ordinate a patient's management and treatment.
Geneticist
A geneticist specializes in inherited and genetic diseases. They will often be involved in confirming the initial diagnosis of Fabry disease and may be consulted during the ongoing management programme.
Other specialist doctors
As part of your initial check-up at the specialist centre, as well as at various times during your care, you may be advised to visit physicians who focus on certain areas. These include (and there may be others):
- Nephrologist – kidneys
- Cardiologist – heart
- Dermatologist – skin
- Ophthalmologist – eyes
- Neurologist – nervous system
- Psychiatrist - mental health
Also, it is possible that it was a physician who specializes in one of these areas who first identified that you may have Fabry disease.
Specialist nurses
You may be assigned a specialist nurse who has expertise in Fabry disease and other lysosomal storage disorders (LSDs). The nurse will potentially be the person with whom patients and their family have the most contact. They may also be responsible for organizing and monitoring treatments such as enzyme replacement therapy (ERT).
Counsellors
Genetic counselling may be offered, particularly if a person who has been diagnosed
with Fabry disease has concerns regarding other family members that may also be affected, or if they are considering starting a family.
MPS Society
The MPS Society (Society for Mucopolysaccharide Diseases) is a voluntary group that represents over 1200 children and adults throughout the UK suffering from MPS and related LSDs, as well as their families, carers and healthcare professionals. The Society aims to provide a support network for those affected by the diseases, promote awareness, and encourage further research.
Support network
It is also important to develop your own support network,
which you can rely on for information and help when you need it.