Remember The Girls: Recent Episodes
Remember The Girls
Remember The Girls Podcast. Hosted by Emma Bliss + Taylor Kane.
The International Society for Women with X-Linked Disorders, Remember The Girls' mission is to raise awareness of the many issues facing female carriers of X-linked genetic disorders; to provide a forum for X-linked females to share their stories, ask questions, provide and receive emotional support, and develop friendships; and to advocate for increased attention of the medical community to the physical and emotional issues of females who carry X-linked disorders. These are their stories.
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 chatting with Shannon Sharp. Shannon resides in Troy, Alabama with her husband and grandbaby. She has known of her condition essentially her entire life as her father and grandmother were both patients with XLH, though originally diagnosed with vitamin-D resistant rickets prior to genetic testing. Shannons first symptom of XLH was severe bowing of the legs along with fatigue and joint and bone pain.
Carrier Connections is sponsored by Kyowa Kirin and Amgen. For more information about our organization, check out rememberthegirls.org.
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:
- 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.
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/
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 December West. December has been married to Tarik West for 19 years. They have five children Alexis, Obed, Xyia, Nhalani, and Othniel. They reside in Akron, Ohio. Nhalani, who is 12-year-old now, was diagnosed with autosomal recessive Alport syndrome at the age of 6. Nhalani was misdiagnosed several times. Several years later, after a failed hearing screening and diagnosed with bilateral sensorineural hearing loss, Nhalani was referred to a geneticist who properly diagnosed her with autosomal recessive Alport syndrome.
Carrier Connections is sponsored by Kyowa Kirin, Amgen, and Sanofi. For more information about our organization, check out rememberthegirls.org.
This month as part of our Carrier Connections program, we are discussing navigating romantic relationships as a female impacted by X-linked disease.
In this episode, Remember The Girls founder, Taylor Kane, brings on her partner of 5 years to discuss how Taylor being a carrier of ALD has impacted their relationship.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. 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 Lesch-Nyhan syndrome (LNS). LNS is an X-linked disorder caused by a mutation in the gene, HPRT1, which plays a critical role in the body’s ability to process purines. With the recycling of purines involved in the production of uric acid, this deficiency or complete lack of function in the HPRT1 gene in individuals with LNS results in excess amounts of uric acid in the body. This buildup of uric acid has many toxic effects on the body, contributing to a variety of neurological and behavioral issues. Perhaps most notably, individuals with LNS suffer from self-mutilative behaviors that tend to manifest around the age of two or three.
Today, we are bringing on Gaby Ponce. Gaby Ponce is from Mexico and mother to Antonio, who has Lesch-Nyhan syndrome. She is the director of the Fundación Amor y Fuerz Lesch Nyhan. The foundation supports 11 families here in Mexico and helps them access medication, rehab therapy online, checkups every six months with a nephrologist and neurologist, dental extraction surgeries, wheelchairs, and more. They work with Love Never Sinks in the United States and Lesch Nyhan Action in France to advocate for a gene therapy treatment.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. 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 Lesch-Nyhan syndrome (LNS). LNS is an X-linked disorder caused by a mutation in the gene, HPRT1, which plays a critical role in the body’s ability to process purines. With the recycling of purines involved in the production of uric acid, this deficiency or complete lack of function in the HPRT1 gene in individuals with LNS results in excess amounts of uric acid in the body. This buildup of uric acid has many toxic effects on the body, contributing to a variety of neurological and behavioral issues. Perhaps most notably, individuals with LNS suffer from self-mutilative behaviors that tend to manifest around the age of two or three.
Today, we are bringing on Michelle Lucas. Michelle Lucas is a 51-year-old carrier of LNS. She has been married for 26 years (27 on the 25th of this month) and has two sons with LNS, who passed away in 2010 (Daniel, age 14 & Keith, age 20). She loves to spend time with her husband and their two Saint Bernard’s. She founded the nonprofit organization Love Never Sinks and served as the CEO from 2013-2021. She continues to advocate for others with LNS, trying to bring awareness, togetherness, and hopefully one day, a treatment.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
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 ichthyosis (XLI). XLI is a rare X-linked condition caused by a deficiency in the enzyme steroid sulfatase which, under normal conditions, functions to maintain the integrity of the skin. In individuals with X-linked ichthyosis, this protein’s normal function is interrupted, causing cholesterol to accumulate and the shedding of dead skin cells to be prevented.
Previous work into the condition, led by Dr. William Davies and colleagues, has shown that individuals with XLI are substantially more likely than non-affected individuals to present with developmental disorders, such as Attention Deficit Hyperactivity Disorder (ADHD) and autism.
Today, we are joined by Dr. William Davies! Dr. Davies is interested in the (epi)genetic mechanisms underlying sex differences in brain function and behavior. His work focusses on the role of genes on the sex chromosomes (i.e. the X and Y), which are asymmetrically inherited between the sexes. A principal aim of his research is to elucidate why the sexes are differentially vulnerable to common and disabling disorders such as autism and ADHD, and ultimately to help develop more effective sex-specific therapies.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. 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 Hunter syndrome. Hunter syndrome is an X-linked genetic disorder caused by the deficiency of the iduronate 2-sulfatase enzyme, an essential protein required for sugar breakdown. As a result, a specific type of sugar molecule, glycosaminoglycans (GAG), builds up in the cell, causing widespread issues in the physical and mental development of individuals affected by this syndrome.
Today, we are bringing on Cristol O'Loughlin, founder & CEO of ANGEL AID CARES and a carrier of Hunter syndrome. Cristol is fiercely passionate about providing social, emotional, physical and financial relief to Raregivers™ ~ patients, caregivers, and professionals who hold both hope and grief in the same human heart.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
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 Kennedy's disease. Kennedy's disease is an X-linked disorder characterized by muscle weakness and wasting that typically manifests in adulthood. It is caused by a mutation in the AR gene, which is responsible for encoding a protein called an androgen receptor. Studies show that some female carriers may experience muscle weakness and neurodegeneration.
Today, we are bringing on Joan, a 62-year old Kennedy's disease carrier. She has been married for 42 years and has two sons ages 36 and 37. She lives in the country in Virginia and keeps busy with gardening, weaving, cooking, and spending time with her llama and goats. She runs a monthly Zoom support group for KD carriers.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
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 Kennedy's disease. Kennedy's disease is an X-linked disorder characterized by muscle weakness and wasting that typically manifests in adulthood. It is caused by a mutation in the AR gene, which is responsible for encoding a protein called an androgen receptor. Studies show that some female carriers may experience muscle weakness and neurodegeneration.
Today, we are joined by Dr. Christopher Grunseich, M.D. Dr. Chris Grunseich is a Staff Clinician in the Neurogenetics Branch, NINDS. He completed his undergraduate studies at Brown University, and went on to receive his M.D. from SUNY Stony Brook School of Medicine in 2006. While at SUNY Stony Brook he completed an HHMI research fellowship year working in the laboratory of Dr. Gail Mandel. He then completed medical internship at St. Vincent’s Hospital, and his residency training in neurology at Georgetown University. He joined Dr. Kenneth Fischbeck’s research group as a neurogenetics fellow, and has been a Staff Clinician since 2016. He is board certified in Neurology. His research focuses on clinical studies of patients with motor neuron disease and using patient-derived cell models to better understand the biology of motor neuron diseases.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
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 Kennedy's disease. Kennedy's disease is an X-linked disorder characterized by muscle weakness and wasting that typically manifests in adulthood. It is caused by a mutation in the AR gene, which is responsible for encoding a protein called an androgen receptor. Studies show that some female carriers may experience muscle weakness and neurodegeneration.
Today, we are bringing on Alison, a 55-year-old Kennedy's disease carrier who lives in the UK and works as a school nurse.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
SIGN THE PETITION: https://chng.it/ZCcLLyFSBV
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 Barth syndrome. Barth syndrome is an X-linked disorder characterized by symptoms that include the enlargement and weakening of the heart, skeletal muscle abnormalities, short stature, and recurrent infections. This syndrome is the result of a mutation in the gene, TAFAZZIN, which normally functions to encode a protein involved in remodeling cardiolipin. Female carriers typically do not experience symptoms associated with Barth syndrome.
Today, we are bringing on Kelsey, a 33-year-old pediatric nurse. She has been married to her husband AJ for ten years. They have two littles boys, Henry who is in heaven, and Wally who will be six in December. When she's not chasing after their very outgoing and social little boy, she loves to read and spend time with her family.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
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.
In the month of September, we are featuring Barth syndrome. Barth syndrome is an X-linked disorder characterized by symptoms that include the enlargement and weakening of the heart, skeletal muscle abnormalities, short stature, and recurrent infections. This syndrome is the result of a mutation in the gene, TAFAZZIN, which normally functions to encode a protein involved in remodeling cardiolipin. Female carriers typically do not experience symptoms associated with Barth syndrome.
Today, we are joined by Rebecca (Becky) McClellan, MGC, CGC. Becky is a board-certified genetic counselor who splits her time between the Neurogenetics-Metabolism Clinic at Kennedy Krieger Institute and the Johns Hopkins Center for Inherited Heart Diseases. For more than 20 years at she has supported patients and families with a wide spectrum of neurodevelopmental disabilities at Kennedy Krieger Institute and has specialized in mitochondrial and other rare metabolic conditions. Rebecca also actively works to enhance family support resources by working closely with organizations such as the Barth Syndrome Foundation and SADS Foundation, and serves on the medical advisory board of Remember the Girls a support organization focused on carrier issues, and the Timothy Syndrome Foundation.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
SIGN THE PETITION: https://chng.it/ZCcLLyFSBV
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 Barth syndrome. Barth syndrome is an X-linked disorder characterized by symptoms that include the enlargement and weakening of the heart, skeletal muscle abnormalities, short stature, and recurrent infections. This syndrome is the result of a mutation in the gene, TAFAZZIN, which normally functions to encode a protein involved in remodeling cardiolipin. Female carriers typically do not experience symptoms associated with Barth syndrome.
Today, we are bringing on Kristi, who is a carrier of Barth syndrome. She is a Mississippi resident, wife, and mother to two boys, one them with Barth syndrome. I also have a nephew and a first cousin living with Barth syndrome.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
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. In the month of August, we featured XLH.
X-linked hypophosphatemia (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 function of bones and teeth. Most cases of XHL first present in childhood and males and females are considered to be equally affected.
Today, we are joined by Marian Hart, RN, BSN, CCRC. Marian is the Clinical Research Leader at Indiana University School of Medicine, Metabolic Bone Research. She has spent a large part of the last 15 years working in XLH.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
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. 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 function of bones and teeth. Most cases of XLH first present in childhood and males and females are considered to be equally affected.
Today, we are bringing on two women impacted by XLH: Susan & Kelly.
Susan Faitos, L.M.F.T, has been the Executive Director of The XLH Network for the last 4 years. She attended her first Network event in 2015 and immediately started volunteering, then became a board member, and then landed in her current position. Born with a spontaneous case of XLH, Susan is passionate about advocating for families and increasing awareness about all rare diseases.
Kelly Rushing is an avid quilter, crafter, and people person. She's been married for almost twenty-one years to the most supportive guy on the planet, Ricky. She lives in East Alabama, after a move from Texas. She is the sixth (or possibly 7th) generation XLHer in her family. She's a dog mom of four very spoiled rescue pups. At forty-one, she is a returning college student, pursuing a degree in marketing and communications. She hopes to continue work in the rare disease community.
Learn more about the XLH Network: xlhnetwork.org!
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
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 chronic granulomatous disease (CGD). CGD is a rare genetic disease that impacts the body’s immune system. When CGD is caused by a mutation in the CYBB gene, it is inherited in an X-linked manner. CGD impacts the body’s ability to create proteins that are essential for the production of a protein complex called NADPH oxidase, which plays an integral role in the immune system. As a result, people with CGD often have poorly functioning immune systems and experience an inability to fight infections.
Female carriers of CGD have been found to experience inflammatory bowel disease, photosensitivity rashes, round sores on their face and mouth, as well as other immune and autoimmune issues. A UK study determined that out of 94 female carriers, 79% demonstrated skin-related symptoms including photosensitivity, malar-like lupus rash, and eczema. 17% reported skin abcesses, 42% experienced gastrointestinal problems, and 26% of women met the criteria for systemic lupus erythemathos, an autoimmune disease in which the immune system attacks itself.
Today, we are bringing on Molly Keane, Senior Manager of Patient Advocacy at Horizon Therapeutics. Want more information about chronic granulomatous disease (CGD) and what it means to be a CGD X-linked carrier? A resource by Horizon Therapeutics can help you find access to testing or a nearby specialist. Head to KeytoCGD.com or @KeytoCGD on Instagram to learn more.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
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 chronic granulomatous disease (CGD). CGD is a rare genetic disease that impacts the body’s immune system. When CGD is caused by a mutation in the CYBB gene, it is inherited in an X-linked manner. CGD impacts the body’s ability to create proteins that are essential for the production of a protein complex called NADPH oxidase, which plays an integral role in the immune system. As a result, people with CGD often have poorly functioning immune systems and experience an inability to fight infections.
Female carriers of CGD have been found to experience inflammatory bowel disease, photosensitivity rashes, round sores on their face and mouth, as well as other immune and autoimmune issues. A UK study determined that out of 94 female carriers, 79% demonstrated skin-related symptoms including photosensitivity, malar-like lupus rash, and eczema. 17% reported skin abcesses, 42% experienced gastrointestinal problems, and 26% of women met the criteria for systemic lupus erythemathos, an autoimmune disease in which the immune system attacks itself.
Today, we are bringing on Jessica Ellen Scott. Jessica is a 29-year-old mom to three littles and a military spouse. She loves spending time chasing around her kids and winding down by playing video games with her husband.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
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 chronic granulomatous disease (CGD). CGD is a rare genetic disease that impacts the body’s immune system. When CGD is caused by a mutation in the CYBB gene, it is inherited in an X-linked manner. CGD impacts the body’s ability to create proteins that are essential for the production of a protein complex called NADPH oxidase, which plays an integral role in the immune system. As a result, people with CGD often have poorly functioning immune systems and experience an inability to fight infections.
Female carriers of CGD have been found to experience inflammatory bowel disease, photosensitivity rashes, round sores on their face and mouth, as well as other immune and autoimmune issues. A UK study determined that out of 94 female carriers, 79% demonstrated skin-related symptoms including photosensitivity, malar-like lupus rash, and eczema. 17% reported skin abcesses, 42% experienced gastrointestinal problems, and 26% of women met the criteria for systemic lupus erythemathos, an autoimmune disease in which the immune system attacks itself.
Today, we are bringing on Felicia Morton. Felicia is the founder and executive director of the CGD Association of America (CGDAA), is on a mission to raise awareness for CGD, by supporting patients and X-linked female carriers and advancing research. Felicia also encourages her community, especially carriers and rare caregivers, to cultivate a sense of self-care and connection via her interactive virtual workshops. To find out more, check out the CGDAA website and sign up for the newsletter at www.CGDAA.org.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
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 Fragile X syndrome.
Fragile X syndrome is a heritable X-linked disorder caused by an abnormality in the FMR1 gene. This gene makes the protein, FMRP, which plays a critical role in the development of nerve cells and the production of other cellular proteins. An issue in this FMR1 gene causes an absence or severe deficiency of the FMRP protein, resulting in a range of developmental problems and distinctive physical features. It typically results from a specific mutation, or alteration of DNA, that causes a CGG base repeat to occur over 200 times in the damaged FMR1 gene. Molecular genetic testing can be used to diagnose this condition by identifying the 200 CGG repeats in the FMR1 gene.
Women with a fragile X premutation, or 55 to 200 repeats of the FMR1 gene, have an increased risk of having a child with fragile X syndrome. Additionally, female fragile X premutation carriers may experience menstrual and menopausal abnormalities, infertility, diminished ovarian reserve, and chronic hypoestrogenism. Such chronic hypoestrogenism has been associated with impaired bone health and an increased risk of cardiovascular disease. Furthermore, female carriers of a fragile X premutation have been found to have neuropsychiatric issues including neuropathy, increased anxiety and depression, and tremor/ataxia syndrome. Some studies have also associated thyroid abnormalities and hypertension to fragile X syndrome in women.
Today, we are joined by Rebecca Kronk, PhD, MSN, CRNP, ANEF, FAAN, CNE. Dr. Rebecca Kronk joined Duquesne University School of Nursing as an Assistant Professor in August 2010, earned tenure in 2016 and was promoted to Full Professor in 2022. She is a board certified pediatric nurse practitioner. Dr. Kronk earned her MSN from the University of Pittsburgh School of Nursing and a PhD in Applied Development Psychology at the University of Pittsburgh, School of Education.
Dr. Kronk was a fellow in the Maternal and Child Health Training program providing leadership and education in neurodevelopmental disabilities and autism (LEND) at the University of Pittsburgh. Dr. Kronk has been in the field of pediatric nursing for over 40 years and she is experienced in helping children and families with a range of developmental issues. She has enjoyed combining clinical work with teaching and research. The theoretical framework of her research has been based on the International Classification of Functioning, Disability, and Health published by the World Health Organization. Dr. Kronk has conducted several research studies on the sleep patterns of children with Fragile X syndrome and developmental functioning of children in the FXS gray zone alleles. Her ongoing research has focused on undergraduate educational interventions to promote learning in genetics and caring for people with disabilities.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
National Fragile X Foundation Registry
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 Fragile X syndrome. Fragile X Syndrome is a heritable X-linked disorder caused by an abnormality in the FMR1 gene. This gene makes the protein, FMRP, which plays a critical role in the development of nerve cells and the production of other cellular proteins. An issue in this FMR1 gene causes an absence or severe deficiency of the FMRP protein, resulting in a range of developmental problems and distinctive physical features. It typically results from a specific mutation, or alteration of DNA, that causes a CGG base repeat to occur over 200 times in the damaged FMR1 gene. Molecular genetic testing can be used to diagnose this condition by identifying the 200 CGG repeats in the FMR1 gene.
Women with a fragile X premutation, or 55 to 200 repeats of the FMR1 gene, have an increased risk of having a child with fragile X syndrome. Additionally, female fragile X premutation carriers may experience menstrual and menopausal abnormalities, infertility, diminished ovarian reserve, and chronic hypoestrogenism. Such chronic hypoestrogenism has been associated with impaired bone health and an increased risk of cardiovascular disease. Furthermore, female carriers of a fragile X premutation have been found to have neuropsychiatric issues including neuropathy, increased anxiety and depression, and tremor/ataxia syndrome. Some studies have also associated thyroid abnormalities and hypertension to fragile X syndrome in women.
Today, we are bringing on Maddy Forrer. Maddy lives on the Gulf Coast with her husband and their son. She is a wife, a mom, and an HR Professional! In her free time she loves going on beach walks, researching everything early intervention, and planning the next family vacation!
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
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 Fragile X syndrome. Fragile X Syndrome is a heritable X-linked disorder caused by an abnormality in the FMR1 gene. This gene makes the protein, FMRP, which plays a critical role in the development of nerve cells and the production of other cellular proteins. An issue in this FMR1 gene causes an absence or severe deficiency of the FMRP protein, resulting in a range of developmental problems and distinctive physical features. It typically results from a specific mutation, or alteration of DNA, that causes a CGG base repeat to occur over 200 times in the damaged FMR1 gene. Molecular genetic testing can be used to diagnose this condition by identifying the 200 CGG repeats in the FMR1 gene.
Women with a fragile X premutation, or 55 to 200 repeats of the FMR1 gene, have an increased risk of having a child with fragile X syndrome. Additionally, female fragile X premutation carriers may experience menstrual and menopausal abnormalities, infertility, diminished ovarian reserve, and chronic hypoestrogenism. Such chronic hypoestrogenism has been associated with impaired bone health and an increased risk of cardiovascular disease. Furthermore, female carriers of a fragile X premutation have been found to have neuropsychiatric issues including neuropathy, increased anxiety and depression, and tremor/ataxia syndrome. Some studies have also associated thyroid abnormalities and hypertension to fragile X syndrome in women.
Today, we are bringing on Evelyn Gee. Evelyn is a symptomatic carrier of fragile X syndrome and lost her sister to fragile X-associated tremor/ataxia syndrome (FXTAS). She works as a fitness specialist for a corporate wellness company and says exercise has always been helpful for her. She has a passion for aerial dance.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
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 ornithine transcarbamylase (OTC) deficiency.
OTC deficiency is an X-linked genetic disorder marked by a complete or partial lack of the enzyme ornithine transcarbamylase. This results in the accumulation of ammonia in the bloodstream and causes complications in the nervous system, resulting in a range of severe to mild symptoms. Approximately 20% of OTC females experience symptoms. Some females do not express excess ammonia levels until pregnancy. Females who do develop symptoms in childhood often experience headaches after protein ingestion. A study determined that girls with OTC deficiency may exhibit episodes of hyperammonemic encephalopathy, or ammonia buildup in the brain, and cognitive decline.
Today, we are joined by Andrea Gropman, M.D., FAAP, FACMG, FANA. Dr. Gropman is the Chief of Neurogenetics and Neurodevelopmental Pediatrics at Children's National. She is also is the principal investigator of the Urea Cycle Disorders Consortium (UCDC) and the UCDC imaging consortium and the deputy clinical director of the Mito EpiGen Program. Her research interest focuses on establishing biomarkers of neurological injury in patients with inborn errors of metabolism, such as urea cycle disorders and mitochondrial disorders, using specialized neuroimaging modalities and cell markers.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
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 ornithine transcarbamylase (OTC) deficiency. OTC deficiency is an X-linked genetic disorder marked by a complete or partial lack of the enzyme ornithine transcarbamylase. This results in the accumulation of ammonia in the bloodstream and causes complications in the nervous system, resulting in a range of severe to mild symptoms. Approximately 20% of OTC females experience symptoms. Some females do not express excess ammonia levels until pregnancy. Females who do develop symptoms in childhood often experience headaches after protein ingestion. A study determined that girls with OTC deficiency may exhibit episodes of hyperammonemic encephalopathy, or ammonia buildup in the brain, and cognitive decline.
Today, we are bringing on Autumn Prince to share her story with OTC deficiency. She is a 30 year old young adult living in Ontario, Canada with her fiance and new dog Duke. She is a dancer, likes to cook, and loves fitness and shopping. These past few years she has been spending her time working within the rare disease community raising awareness. She hopes to be the change within our community!
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
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 ornithine transcarbamylase (OTC) deficiency. OTC deficiency is an X-linked genetic disorder marked by a complete or partial lack of the enzyme ornithine transcarbamylase. This results in the accumulation of ammonia in the bloodstream and causes complications in the nervous system, resulting in a range of severe to mild symptoms. Approximately 20% of OTC females experience symptoms. Some females do not express excess ammonia levels until pregnancy. Females who do develop symptoms in childhood often experience headaches after protein ingestion. A study determined that girls with OTC deficiency may exhibit episodes of hyperammonemic encephalopathy, or ammonia buildup in the brain, and cognitive decline.
Today, we are bringing on Aimee Boisvert to share her story with OTC deficiency. She is a patient with OTC deficiency and was diagnosed at 13 years old. She is a 3rd grade teacher. In her free time she loves to read, bike ride, and spend time outdoors.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
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 Fabry disease.
Fabry Disease is a rare X-linked genetic disorder caused by a mutation in the gene GLA that impairs the efficient breakdown of fatty acids, or lipids in the cell. This mutation on the X chromosome results in the buildup of fat in the body’s cells, causing issues in the kidney, heart, and nervous system. 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. The most common symptoms in females affected by Fabry disease are neuropathic pain, angiokeratoma (a type of skin finding), 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.
Today, we are joined by Dawn Laney, MS, CGC, CCRC. Dawn is a genetic counselor, instructor, researcher, director of the Emory Genetic Clinical Trials Center, and program leader of the Emory Lysosomal Storage Disease Center at Emory University in the Department of Human Genetics. Dawn received her master’s degree in medical genetics from the Sarah Lawrence College in 1999. She received her certification from the American Board of Genetic Counseling in 2002. Since joining the Emory Division of Medical Genetics in 2002, Dawn has been involved in follow-up of abnormal metabolic newborn screening for the state of Georgia, development and management of a genetic infusion center, and lysosomal storage disease clinical care and research. She is currently the program leader for the Emory Lysosomal Storage disease center and the director of the Emory Genetic Clinical Trials Center. She serves on the Emory biomedical IRB committee. Dawn is the instructor for the Developmental Biology and Human Malformation course at Emory University.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
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 Fabry disease. Fabry Disease is a rare X-linked genetic disorder caused by a mutation in the gene GLA that impairs the efficient breakdown of fatty acids, or lipids in the cell. This mutation on the X chromosome results in the buildup of fat in the body’s cells, causing issues in the kidney, heart, and nervous system. 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 (NORD). However, recent research has determined that the most common symptoms in females affected by Fabry disease are neuropathic pain, angiokeratoma (a type of skin finding), 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.
Today, we are bringing on Taylor Hoffman to share her story with Fabry disease. Taylor is a 17-year-old rare disease advocate who is passionate about raising awareness of the impacts of Fabry disease on female patients. She is looking forward to being part of clinical trials for Fabry disease in the future.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
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 Fabry disease. Fabry Disease is a rare X-linked genetic disorder caused by a mutation in the gene GLA that impairs the efficient breakdown of fatty acids, or lipids in the cell. This mutation on the X chromosome results in the buildup of fat in the body’s cells, causing issues in the kidney, heart, and nervous system. 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 (NORD). However, recent research has determined that the most common symptoms in females affected by Fabry disease are neuropathic pain, angiokeratoma (a type of skin finding), 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.
Today, we are bringing on Claire O'Meara to share her story with Fabry disease. Claire is a coffee lover, fur baby mamma and nutritional therapist. She is a lover of all things health and well-being and can often be found geeking out in medical books always seeking to learn more about fabry Disease.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
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 Pelizaeus-Merzbacher disease.Pelizaeus-Merzbacher disease (PMD) is a rare X-linked condition affecting the brain and spinal cord caused by mutations on the PLP1 gene. It is a type of leukodystrophy, which means it involves abnormal development of white matter in the brain. Since PMD is an X-linked disease, carriers have a 50% chance of passing the condition onto their children. Additionally, some carriers may experience neurological symptoms, particularly if they have a nonsense or null mutation.Today, we are joined by Dr. Grace Hobson. Dr. Hobson’s research is aimed at understanding molecular mechanisms in PMD that will allow the development of rational treatments and ultimately a cure. During her career, she received grants from the National Institutes of Health, the PMD Foundation, the Kylan Hunter Foundation, and the Carson Scott Suter Foundation to fund this work. Dr. Hobson’s contact with families, genetic counselors, and physicians through her molecular diagnostics work has allowed her to refer families to the PMD Foundation for information and support. Dr. Hobson has participated in meetings, symposia, workshops and family conferences on PMD. In addition, she helped to organize the family meeting in 2000 that launched the PMD Foundation. She also hosted symposia for PMD families and researchers at the Alfred I. duPont Hospital for Children in 2003, 2009, and 2013, and a Virtual PMD Symposium in 2020.Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
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 Pelizaeus-Merzbacher disease.
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked condition affecting the brain and spinal cord caused by mutations on the PLP1 gene. It is a type of leukodystrophy, which means it involves abnormal development of white matter in the brain. Since PMD is an X-linked disease, carriers have a 50% chance of passing the condition onto their children. Additionally, some carriers may experience neurological symptoms, particularly if they have a nonsense or null mutation.
Today, we are bringing on Esther Hutson to share her story with PMD. Esther is a Christian woman and a mom of 3 amazing kids. She has used her background in childcare to be a stay at home mom now focusing on her children whom she also homeschools. She loves crafting and spending time with friends when she can.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
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 Pelizaeus-Merzbacher disease.
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked condition affecting the brain and spinal cord caused by mutations on the PLP1 gene. It is a type of leukodystrophy, which means it involves abnormal development of white matter in the brain. Since PMD is an X-linked disease, carriers have a 50% chance of passing the condition onto their children. Additionally, some carriers may experience neurological symptoms, particularly if they have a nonsense or null mutation.
Today, we are bringing on Angi Dunham to share her story with PMD. Angi Dunham, wife to Brandon, mom to Kathlyn and Brant, bonus mom to Kailey and Kendall, daughter, sister and business owner. Married for 13 years this coming July, the family welcomed their first child together, their daughter Kathlyn 2 days before their 1 year anniversary and decided to grow by one more 8 years later with Brant and when he was 13 months was diagnosed with Pelizaeus-Merzbacher disease.
Carrier Connections is sponsored by Horizon Therapeutics and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
Jaclynn Brown is a 36 years old woman from Manitoba, Canada where she and her partner run a busy Autobody Shop. She found out she was a carrier and patient with X-Linked lymphoproliferative syndrome (XLP) following her brother's diagnosis in 2019. Attempting the IVF route proved to be overwhelming and costly after much testing and finding out she has only one ovary. From there, Jaclynn and her partner decided the natural conception route would be their first step. Finding out she was pregnant and that her child was a boy affected with XLP, was devastating and they made the heart-wrenching decision to terminate their first pregnancy in November of 2020 at 16 weeks. A second attempt at growing their family yielded the same results, another male affected with XLP, and another termination at 16 weeks pregnancy in March of 2022. These horrible odds are not to be taken lightly, with an X-linked condition. Jaclynn and her family made these difficult decisions out of love because they didn't want to put a child through future pain and suffering with this condition. This is her story. As a disclaimer, this podcast series features sensitive topics. Understand that the opinions and topics do not express or represent the organizations personal feelings on any matter but are here to solely share the guest speaker's journey and life's experiences. These opinions and stories are theirs and theirs alone.
Sarah K. is a 40 year old photographer and barre instructor who is from Minnesota. For as long as she can remember she knew she was a carrier of ALD. When her and her husband were ready to have children, they looked seriously at their options and came to the tough and risky decision to start by trying to conceive naturally. After a few months, they found out that she was pregnant with a boy and around 13 weeks, they learned that he was, in fact, a boy with ALD. It was soul crushing. Sarah never questioned that termination was the right option for her, but she didn’t anticipate how hard it would be. After terminating her baby in September of 2010, her and her husband proceeded to make plans to expand their family through IVF-PGD knowing they did not want to go through that experience again. This is her story.
As a disclaimer, this podcast series features sensitive topics. Understand that the opinions and topics do not express or represent the organizations personal feelings on any matter but are here to solely share the guest speaker's journey and life's experiences. These opinions and stories are theirs and theirs alone.
Nicole Hunter is a 30 year old woman from Virginia who is affected with Duchenne Muscular Dystrophy (DMD). She first became pregnant September 2020 and with no known family history of genetic diseases, it was a shock when it was discovered she was a carrier for DMD at routine genetic testing done at 12 weeks prenatally. At the same time, she found out she was also having a baby boy. Nicole proceeded to meet with a genetic counselor and made the decision to have an amniocentesis at 16 weeks to see if her child was affected with DMD. She got the results back at 21 weeks and she learned her baby boy was affected with Duchenne Muscular Dystrophy. Nicole and her family decided the right choice for them was a TFMR. Two days later, in February 2021, she had the procedure at 22 weeks pregnant. She is currently in the midst of her IVF journey in hopes of having a child unaffected by the condition. This is her story.
As a disclaimer, this podcast series features sensitive topics. Understand that the opinions and topics do not express or represent the organizations personal feelings on any matter but are here to solely share the guest speaker's journey and life's experiences. These opinions and stories are theirs and theirs alone.
Kristy McCracken is an advocate and patient of an x-linked condition in the Urea Cycle Disorder family. Her official diagnosis is Ornithine Transcarbamylase deficiency, commonly referred to as OTC. Kristy is a member of many patient organizations for UCD and rare diseases and her biggest passion is being a mentor for those newly diagnosed or going through their own journey. Kristy terminated a pregnancy in 2017 after genetic testing confirmed it was a male with OTC and after concluding that her own life was at risk if the pregnancy continued. Kristy has since become a mother through adoption and is open with the entire experience. Her goal is to help other carriers and female patients never feel alone in this journey of rare disease and x-linked conditions. As a disclaimer, this podcast series features sensitive topics. Understand that the opinions and topics do not express or represent the organizations personal feelings on any matter but are here to solely share the guest speaker's journey and life's experiences. These opinions and stories are theirs and theirs alone.
Jessica Stephens is a 30 year old mum from Middlesbrough, United Kingdom (UK) who is affected with Ornithine Transcarbalmalyse, shortened as OTC Deficiency. Jessica lost her second baby, August, tragically to OTC deficiency when he was 3 days old in September 2020. It took around 9 months until she was diagnosed as a “carrier” of OTC. Jessica knew she still wanted to continue her family but with a 50% chance of passing on the gene variant again, she was unsure what to do. When she found out she was pregnant again in November 2021, she had a blood test to determine the sex of the baby, which confirmed he was a boy. She proceeded with a CVS to test the amniotic fluid and determine if her son was affected by OTC. Unfortunately, it was determined that her son did in fact have OTC deficiency as well. She decided that the kindest thing to do would be to end the pregnancy, as she couldn’t bare the thought of him suffering in pain like his older brother. He was born silently on January 16, 2022, his family called him Blake Arthur Stephens. This is their story.
As a disclaimer, this podcast series features sensitive topics. Understand that the opinions and topics do not express or represent the organizations personal feelings on any matter but are here to solely share the guest speaker's journey and life's experiences. These opinions and stories are theirs and theirs alone.
Emma Bliss learned of her X-Linked Myotubular Myopathy carrier status the way many x-linked carriers do - by giving birth to a child with the condition after a healthy pregnancy and no family history. Caleb, Emma's second child, lived for 5 months in the NICU and was held and loved by his family the entire time. Emma is a mother of three and resides in New Hampshire with her husband, two kids and dog. After Caleb passed, knowing they wanted to grow their family, they sought the guidance of a genetic counselor. Laying all the odds and information on the table, they decided to try naturally and found out at 11 weeks, that they were carrying another baby boy affected with XLMTM. After a painful decision to terminate at 13 weeks, knowing they would never put another baby through what Caleb had been through, they decided that IVF and embryo testing might be the next course of action. While building a probe with a lab and completing all the costly preliminary IVF tasks, they found out that they were pregnant again with a baby girl naturally. Through the entire experience, Emma has learned that what might be the right path for one family, might be the wrong for another and that every single decision is personal. She shares that knowing all your options, even when faced with difficult and gut-wrenching decisions, is the first and largest step. This is her story. As a disclaimer, this podcast series features sensitive topics. Understand that the opinions and topics do not express or represent the organizations personal feelings on any matter but are here to solely share the guest speaker's journey and life's experiences. These opinions and stories are theirs and theirs alone.
Sarah Myatt is a single mom of 2, elementary music teacher, and classical singer from Nova Scotia, Canada. She found out she had Adrenoleukodystrophy in 2007 and inherited the variant from her mother, who had early onset disabling-symptoms. When wanting to start her family in 2008, Sarah decided she would go through genetic testing. In 2009 at 14 weeks, Sarah learned that her child was affected with ALD and made the difficult decision to terminate her pregnancy. Sarah is here to discuss her experience with genetic testing and TFMR in Montreal and Nova Scotia, Canada. This is her story.
As a disclaimer, this podcast series features sensitive topics. Understand that the opinions and topics do not express or represent the organizations personal feelings on any matter but are here to solely share the guest speaker's journey and life's experiences. These opinions and stories are theirs and theirs alone.
Brittney is a 37 year old woman from Baltimore, Maryland. Her story goes back to November 2018 when she found out at 10 weeks into her pregnancy that she was a carrier for Fragile X. When she received this call, she had no idea what that was or what that would mean for her pregnancy. After meeting with a Genetic Counselor, she learned she was a mosaic - full mutation carrier and because her repeats were more than 200, her child would have a full expansion if they inherited her affected X. Two weeks after this meeting, she proceeded with a CVS, a procedure that tests the amniotic fluid to determine if the baby would be affected with Fragile X. 16 days later she received the life changing news that the baby was a boy and had inherited her full mutation and she moved forward with the termination a week later. This is her story. As a disclaimer, this podcast series features sensitive topics. Understand that the opinions and topics do not express or represent the organizations personal feelings on any matter but are here to solely share the guest speaker's journey and life's experiences. These opinions and stories are theirs and theirs alone.
Introducing "Taboo Talks" with Remember The Girls! For the first section of our series, we will discuss TFMR featuring personal memoirs from x-linked carriers who have faced these difficult decisions. As a disclaimer, this podcast series features sensitive topics. Understand that the opinions and topics do not express or represent the organizations personal feelings on any matter but are here to solely share the guest speaker's journey and life's experiences. These opinions and stories are theirs and theirs alone.
Interview with Lori Long and Shari Luckey, two female patients with {X-linked} Hemophilia B.
Interview with Katie Mears and Sonji Wilkes, two female patients with {X-linked} Hemophilia A.
Interview with Megan Dunleavy, a female patient with {X-linked} Alport Syndrome and current medical school student with a special interest in genetics and nephrology.
Reproductive family planning, genetic testing and screening options discussion with certified genetic counselor, Emily Goldberg with J.Screen. Emily has been certified by the American Board of Genetic Counseling since 2011. Her professional interests include education, teaching and mentoring genetic counseling students. She serves as an Instructor at the Albert Einstein College of Medicine and adjunct faculty at Sarah Lawrence College where she teaches embryology and reproductive genetics. J. Screen is a non-profit genetic education and screening program. Learn more at https://jscreen.org
Interview with Tania Rife and Joanne Ewing, two woman "carriers" of {X-linked} Aarskog Syndrome.
Interview with Michelle Erskine, a woman patient with {X-linked} Aarskog Syndrome. Michelle is the founder and CEO of The Aarskog Foundation.
Interview with four women patients + "carriers" of Duchenne Muscular Dystrophy (DMD): Amy Aikins, Betty Vertin, Jessica Fabus Cheng and Mindy Cameron.
Interview with Pat Furlong, female “carrier” of Duchenne Muscular Dystrophy + the founding President of Parent Project Muscular Dystrophy
Interview with Pediatrician Amelia Decker, female “carrier” of MECP2 Duplication Disorder + Fragile X Syndrome
Interview with Jessica Stephens, a silent “carrier” of OTC (Ornithine Transcarbamylase).
Interview with Kristy McCracken, a woman patient with OTC (Ornithine Transcarbamylase).
Interview with Ashley Perez + Janet Bremer, two women “carriers” of Fragile X Syndrome.
Interview with Stephanie Surbaugh Payne, an X-Linked “Carrier” of Myotubular Myopathy, also known as MTM.
Interview with Loris Pesante, an X-Linked “Carrier” of Myotubular Myopathy, also known as MTM.
Interview with Barbara Machado, X-Linked Carrier of Adrenoleukodystrophy, also known as ALD.
Interview with Taylor Kane, X-Linked Carrier of Adrenoleukodystrophy, also known as ALD.
Welcome to The Remember The Girls Podcast with Emma Bliss + Taylor Kane as your hosts! We represent women with x-linked genetic disorders and look forward to sharing their stories with you here. Stay tuned as we share our journeys as "carriers" in the rare disease world. Our goal is to educate, advocate, bring community and awareness to your space, as well as make it known that women "carriers" are NOT JUST CARRIERS. Please reach out to us at any time with any questions, concerns or collaboration ideas at info@rememberthegirls.org