collectively coeXisting

Each month, our Carrier Connections program features a different X-linked condition with the goal to increase awareness and education of X-linked conditions and how they impact females.

This month, we are featuring X-linked hypophosphatemia (XLH). XLH is a genetic disease caused by mutations in the PHEX gene, which cause bone cells to secrete increased concentrations of a hormone responsible for inducing phosphate excretion in the kidneys, ultimately resulting in a deficiency of phosphate in the body. This can cause widespread issues throughout the body as phosphate plays an essential role in the proper functioning of bones and teeth. Most cases of XLH first manifest in childhood, with the presentation of bowed legs appearing as a prominent symptom. 

Today, we are bringing on Lauren Walrath, Vice President of Public Affairs at Kyowa Kirin North America. Lauren joined Kyowa Kirin in 2019 and has been responsible for building and leading the region’s Public Affairs team, including its communications and advocacy capabilities, to support the company’s culture, reputation and work with patient communities. She is a key member of the company’s North America Executive Committee and Global Corporate Communications leadership team.

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

*This month in partnership with XLH Network*

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 X-linked hypophosphatemia (XLH). XLH is a genetic disease caused by mutations in the PHEX gene. These mutations cause bone cells to secrete increased concentrations of a hormone responsible for inducing phosphate excretion in the kidneys, ultimately resulting in a deficiency of phosphate in the body. This can cause widespread issues throughout the body as phosphate plays an essential role in the proper functioning of bones and teeth. Most cases of XLH first manifest in childhood, with the presentation of bowed legs appearing as a prominent symptom. XLH impacts females in virtually the same way it impacts males.

Today we are bring on Sunindiya. Sunindiya lives outside of Boston, MA. She is the Executive Vice President for a nonprofit organization called Roca, where she manages programs for young women and mothers impacted by trauma and violence. Her experience living with XLH helped her find her voice to advocate for others who are often unseen and unheard both through her work and through The XLH Network. Sunindiya likes to spend time with family, read, and swim. 

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

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 myotubular myopathy (MTM). MTM is an X-linked genetic disorder characterized by moderate to severe muscle weakness and decreased muscle tone. Manifesting female carriers of an MTM1 mutation express a range of symptoms that vary in severity, but the following describe the general pattern seen across studies:

Today we are bring on Meghan Mustane to discuss her experience of being diagnosed a carrier with MTM. Meghan is an experienced communications professional working in Pharma and is currently on the board for Remember The Girls. She is a carrier of Myotubular Myopathy and always knew there was a chance she was a carrier from her mothers own journey in family planning and child loss. Meghan is a mother of two girls, age 14 and 9 and knows one day they will require testing to find out their own carrier status with the condition. The ethics of when to talk to your daughter and when to find out your children’s own carrier journey is always a debated topic in our community and one that is very personal and also very grey. Meghan is passionate about raising awareness for rare diseases and we appreciate her continued efforts and support inside Remember The Girls.

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

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 myotubular myopathy (MTM). MTM is an X-linked genetic disorder characterized by moderate to severe muscle weakness and decreased muscle tone. Manifesting female carriers of an MTM1 mutation express a range of symptoms that vary in severity, but the following describe the general pattern seen across studies:

Today we are bring on Kim Engst to discuss her experience being diagnosed with MTM. Kim is a manifesting carrier of MTM. She has a daughter and a son who passed away from MTM. She is a retired Veterinary Technician of 40 years, a career she loved! She is a lizard mom, I have 3 crested geckos: Emilio, Flora and Fauna. She is a voracious reader and enjoy doing paint by numbers kits (great for mental health and keeping her hands moving!)

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

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 myotubular myopathy (MTM). MTM is an X-linked genetic disorder characterized by moderate to severe muscle weakness and decreased muscle tone. Manifesting female carriers of an MTM1 mutation express a range of symptoms that vary in severity, but the following describe the general pattern seen across studies:

Today, we are interviewing Jessica Stanley, a female patient with myotubular myopathy. Jessica was mis-diagnosed multiple times and ultimately found out her MTM diagnosis through genetic testing. She is currently pregnant with twin baby girls and has been contemplating testing for their carrier status in utero. Women patients and carriers of x-linked conditions not only find themselves with physical symptoms of their condition but also the mental load of making these tough decisions can be daunting. Jessica is a beautiful example of how community and staying positive can ultimately help bring women together, sharing their journey with each other.

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

*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.

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.

*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 Sabina Kineen. Sabina is a rare disease patient, caregiver, and advocate with a deep passion for health equity, mental health, and patient engagement. Diagnosed with Fabry Disease in her teens, she has spent many years sharing how the diagnosis of an inherited disease can impact an entire family. 

Sabina is also a strong proponent of health equity and strives to ensure that every patient has access to the care they need and deserve. Through her advocacy work, Sabina aims to raise awareness, promote understanding, and create meaningful change for rare disease patients and their families. 

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

*SOLIDARITY EPISODE* This month in partnership with ⁠Alport Syndrome Foundation⁠!

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. Some of these X-linked conditions are part of a larger disease umbrella with other types of inheritance patterns.

This month, we are featuring Alport syndrome. Alport syndrome is an inherited disorder caused by mutations, or changes, in the genes COL4A3, COL4A4, and COL4A5 that inhibit their ability to produce a protein called collagen IV. There are four main types of Alport syndrome characterized by their mode of inheritance; the X-linked version of this syndrome, X-linked Alport syndrome (XLAS), is the most commonly reported and brought on specifically by a defective COL4A5 gene. Other inheritance forms include autosomal recessive, autosomal dominant, and digenic. Alport syndrome is most frequently associated with symptoms of progressive kidney disease as well as bilateral sensorineural hearing loss and eye abnormalities.

Today, we are bringing on Rachel. Rachel is a 24 year old with X-linked Alport syndrome who lives in Boston and is an aspiring genetic counselor. She is passionate about raising awareness for the carrier community and advocating for women’s healthcare rights. She loves to play soccer, ski, and read.

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

This month in partnership with ⁠Alport Syndrome Foundation⁠!

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. Some of these X-linked conditions are part of a larger disease umbrella with other types of inheritance patterns.

This month, we are featuring Alport syndrome. Alport syndrome is an inherited disorder caused by mutations, or changes, in the genes COL4A3, COL4A4, and COL4A5 that inhibit their ability to produce a protein called collagen IV. There are four main types of Alport syndrome characterized by their mode of inheritance; the X-linked version of this syndrome, X-linked Alport syndrome (XLAS), is the most commonly reported and brought on specifically by a defective COL4A5 gene. Other inheritance forms include autosomal recessive, autosomal dominant, and digenic. Alport syndrome is most frequently associated with symptoms of progressive kidney disease as well as bilateral sensorineural hearing loss and eye abnormalities.

Today, we are bringing on Jennie Feiger. Although she has no accent to reveal her origins, Jennie grew up in Brooklyn, New York.  She attended Wesleyan University for her undergraduate degree, and then earned two masters degrees from the University of California at Berkeley, in Biochemistry and Genetic Counseling. She has worked in genetic research, genetic counseling, and teaching at the college and graduate level.  

As a genetic counselor, she focused on adult onset conditions, including cancer and dementia.  She has presented her findings at national meetings, as well as founded support groups for families impacted by adult-onset conditions and is active in training graduate students in genetic counseling.  

As a physician assistant program, she has worked in internal medicine, geriatrics and gastroenterology, and now nephrology.  Jennie enjoys getting to know her patients deeply and takes pride in providing comprehensive care, including genetic counseling.  She lives in Boulder with her husband and is recently an “empty nester” with her two young sons in college.  She loves to garden, cycle and cross country ski.

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

Novel therapies for Alport syndrome: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9081811/