collectively coeXisting Remember The Girls

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:


Muscle weakness in upper and lower limbs 
Muscle atrophy 
Dyspnea 
Muscle fatigue
Cramping
Calf enlargement 
Wheelchair dependence
Intolerance to physical activity 
Contractures 
Choking while eating 
Vocal changes

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:


Muscle weakness in upper and lower limbs
Muscle atrophy
Dyspnea
Muscle fatigue
Cramping
Calf enlargement
Wheelchair dependence
Intolerance to physical activity
Contractures
Choking while eating
Vocal changes

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:


Muscle weakness in upper and lower limbs
Muscle atrophy
Dyspnea
Muscle fatigue
Cramping
Calf enlargement
Wheelchair dependence
Intolerance to physical activity
Contractures
Choking while eating
Vocal changes

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 - andiemick@aol.com



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.