A Unique Journey

Each person’s journey with Fabry is unique

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.

Talking about Fabry disease

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

Considerations when planning a family

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

Looking after your wellbeing

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

References:

Desnick RJ, et al. Ann Intern Med. 2003;138(4):338-346.
Di Toro A, et al. J Cardiovasc Med 2018;19(suppl 1):e1–e5.
Ortiz A, et al. Mol Genet Metab. 2018;123(4):416-427.
Martins, AM, et al. The Journal of pediatrics. 2009;155(4): S19-S31.

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