*SOLIDARITY EPISODE* This month in partnership with ⁠Fabry Support & Information Group⁠!

Our Carrier Connections program features a different X-linked condition each month with the goal to increase awareness of X-linked conditions and how they impact the lives of women and girls.

This month, we are featuring Fabry disease. Fabry Disease is a rare X-linked disorder caused by a mutation in the gene encoding for the α-galactosidase A (α-Gal A) enzyme, or GLA gene, which typically functions to produce a protein required for the breakdown of lipids in cells.

Females tend to have a variable course of Fabry disease with some experiencing severe symptoms while others experience less severe symptoms than males or none at all.

However, recent research has determined that the most common symptoms in females affected by Fabry disease are neuropathic pain, angiokeratoma (clusters of small, dark red spots), proteinuria (high levels of protein in urine), buildup in the cornea of the eyes, and cardiac disease. Additionally, 10% of females experience renal failure and need dialysis.

Depression is also reported to be another manifestation of Fabry disease with 22% of females experiencing depressive symptoms.

Aside from these manifestations, more recent research has discovered females with Fabry disease tend to experience: exhaustion, exercise intolerance, decreased oxygen intake, gastroenterological disturbances, infertility, loss of libido, increased risk of headaches, and severity of Fabry-related symptoms in pregnancy.

Today, we are bringing on Taylor and her mother, Andrea. Taylor is a young adult living with Fabry disease. She and Andrea discuss the challenges they faced getting Taylor's symptoms taken seriously, how their family supports Taylor through the trials and tribulations brought about by Fabry, and why they advocate.

Find them here:

Taylor's Instagram - @_friendswithfabry_

Andrea's email - [email protected]

Carrier Connections is sponsored by Kyowa Kirin and Amgen. For more information about our organization, check out ⁠⁠⁠⁠⁠⁠⁠⁠⁠rememberthegirls.org⁠⁠⁠⁠⁠⁠⁠⁠⁠.