A Unique Journey
Fabry disease is a rare, underrecognised condition.1 There can be variability in the age of onset and severity of Fabry.2 The course of the disease also varies, even among family members with the same mutation.1 This means patients with Fabry may have a unique journey.
Fabry disease has a profound emotional and physical impact on affected individuals and their families. In order to provide patients with a better understanding of Fabry disease, genetic counseling for patients and their families/partners by a medical geneticist or a counselor with Fabry disease expertise is critical following diagnosis, and forms a vital part of the multidisciplinary approach to the management of Fabry.3
Pre-conception or prenatal genetic counseling should be offered to all male and female patients of reproductive age.3 Your doctor or genetic counsellor can help you understand the likelihood that future children will inherit the disease.4 Affected mothers have a 50% chance of passing the defective gene on to all offspring whether boys or girls. Sons who inherit the gene will be affected; her daughters may display a spectrum of clinical involvement.4 Fathers with Fabry disease pass on the defective gene to none of their sons and all of their daughters.4 Previously unrecognised family members, males and females, can be identified at an early stage of the disease via screening for the mutation among family members.4
If the family mutation is known, prenatal diagnosis may be obtained by molecular analysis, both in boys and girls.4 The importance of early initiation of therapy has been highlighted in treatment guidelines for paediatric patients with Fabry disease.3
For some, being diagnosed with Fabry led to increased worrying about the future.3 Talking to a genetic counsellor is recommended to address feelings of anxiety concerning disease progression, guilt related to passing the disease on to children, and other strong emotions such as anger, grief and impacts on self-esteem and self-identity.3
Patients & Caregivers: In case of need to report an adverse drug reaction, please refer to your physician, asking him to fill in and submit the relevant case report to the concerned Health Authority, according to the Pharmacovigilance requirements in force in your Country. Nevertheless, please be kindly reminded that each patient can report any such cases directly to the national reporting system.
Healthcare Professionals: in case you want to report an adverse drug reaction you become aware of, please report it to your Health Authority according to the requirements set by the pharmacovigilance legislation.
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