This month in partnership with Fabry Support & Information Group!
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 Lisa Berry. Lisa Berry graduated from the Brandeis University Genetic Counseling program in Waltham, MA. She has worked as a prenatal counselor in New York City, a lab coordinator for Genzyme Genetics and a study coordinator at Tufts/New England Medical Center. In 2008, she became a genetic counselor with the Rare Genetic Disease Program at Cincinnati Children’s Hospital. It was here that she was able to start working with individuals and families whose lives have been impacted by lysosomal storage disorders. In addition to providing genetic counseling for families, she is on the Ohio Newborn Screening Advisory Council and is a member of the Board of Directors for the National MPS Society. Her main roles are treatment/care coordination, advocacy and working on clinical trials for various LSDs.
Carrier Connections is sponsored by Kyowa Kirin and Amgen. For more information about our organization, check out rememberthegirls.org.
