Remember The Girls

Dena is a board-certified genetic counselor with 9 years of clinical experience, a content creator, science communicator and healthcare thought leader. Formerly the Endowed Counselor of Hereditary Gastrointestinal Cancer Prevention with the UCSF Cancer Genetics and Prevention program, she left clinic to grow her personal brand, Dena DNA, a media brand with a mission to spread awareness of medical genetics and genetic counseling to the general public through media and marketing techniques not typically used by the medical community. Dena has consulted for major laboratories and creates sponsored content for companies and organizations in the genetics and healthcare space. Dena draws, animates, writes, voices, films, and edits many different forms of content. As the most followed genetic counselor on social media, with over 75,000 followers across platforms, and her years of social media experience, she has her finger on the pulse of trending health topics. Dena is also a sibling of an adult with a chromosome abnormality, an undiagnosed disease patient and a fertility/IVF warrior. Her exposure to the healthcare system as a patient AND provider has given her valuable insights and a unique perspective on the future of healthcare and educational needs.She has also appeared as an expert on TV news segments and as a media personality. She currently sees patients via telemedicine through her private practice, Malibu Genetics Concierge, where she specializes in cancer genetics and preventive medicine.For more information about our organization, check out ⁠⁠⁠⁠⁠⁠⁠⁠rememberthegirls.org⁠⁠⁠⁠⁠⁠⁠⁠.

*This month in partnership with ⁠Choroideremia Research Foundation⁠*Our Carrier Connections program features a different X-linked condition each month to increase awareness of X-linked conditions and how they impact the lives of women and girls.This month, we are featuring choroideremia (CHM). CHM is an X-linked disorder caused by mutations in the gene CHM, which produces a protein that plays a critical role in the cell's ability to transport proteins and organelles within and outside of the cell. When this gene is dysfunctional, the cell can no longer support this protein escort ability, resulting in premature cell death, primarily in the eyes. Typically, this condition is characterized by progressive vision loss. These symptoms may begin at any age, but tend to onset between childhood and adulthood. Females carriers of CHM have been proven to experience a spectrum of symptoms, ranging from mild to severe retinal degeneration. Our guest today is Michelle. She is a mom of two incredible boys with CHM, doing whatever she can to find a treatment. Carrier Connections is sponsored by Kyowa Kirin and Amgen. For more information about our organization, check out ⁠⁠⁠⁠⁠⁠⁠rememberthegirls.org⁠⁠⁠⁠⁠⁠⁠.

*This month in partnership with Choroideremia Research 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.This month, we are featuring choroideremia (CHM). CHM is an X-linked disorder caused by mutations in the gene, CHM, which produces a protein that plays a critical role in the cell's ability to transport proteins and organelles within and outside of the cell. When this gene is dysfunctional, the cell can no longer support this protein escort ability, resulting in premature cell death primarily in the eyes. Typically, this condition is characterized by progressive vision loss. These symptoms may begin at any age, but tend to onset between childhood and adulthood. Females carriers of CHM have been proven to experience a spectrum of symptoms, ranging from mild to severe retinal degeneration. Today, we are featuring Dr. Sena Gocuk. Dr. Gocuk is an optometrist and postdoctoral research fellow specialising in inherited retinal diseases (IRD), with a particular focus on female carriers of X-linked IRDs. Her research explores the unique challenges female carriers face, from variability in disease expression to their underrepresentation in clinical trials. Dr. Gocuk has led innovative studies investigating retinal changes in female carriers, providing insights into emerging treatments such as gene therapy. She is an advocate for the inclusion of female carriers in research and treatment interventions, regularly sharing her findings to promote better care and access for this often-overlooked population.RESOURCES:Choroideremia Research FoundationRetinal Characteristics of Female Choroideremia Carriers: Multimodal Imaging, Microperimetry, and GeneticsLongitudinal assessment of female carriers of choroideremia using multimodal retinal imagingFemale carriers of X-linked inherited retinal diseases - Genetics, diagnosis, and potential therapiesCarrier 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. From time to time we also feature topics important to the X-linked community. This month, we are highlighting the topic of discussing health history with your family and more specifically disclosing an X-linked diagnosis. Our guests for this episode are Savannah and Alexis. Savannah and her son, Titus, have ALD and were diagnosed through newborn screening in 2021. The Merrill's are a military family currently stationed in Virginia. Due to ALD, they pursued IVF and are expecting an ALD-free baby girl in April of 2025. Alexis is a two boys under two mom! Her youngest son was picked up on Florida's newborn screen in 2023 with adrenoleukodystrophy (ALD). 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 creatine transported deficiency, or CTD. We are partnering with ⁠Association Xtraordinaire⁠ to bring you interviews and educational graphics on our social media pages. Our guests for this episode is Carole Chehowah, Vice President of Association Xtraordinaire. She is a mom of a 34-year-old daughter with CTD who diagnosed after 16 years after years of wondering. Carole is fighting for girls' recognition in X mutation syndromes. 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 creatine transported deficiency, or CTD. We are partnering with Association Xtraordinaire to bring you interviews and educational graphics on our social media pages. Our guests for this episode are Bonnie, an 18-year-old tennis player living with CTD and her mother, Andrea. Carrier Connections is sponsored by Kyowa Kirin and Amgen. For more information about our organization, check out ⁠⁠⁠⁠⁠⁠rememberthegirls.org⁠⁠⁠⁠⁠⁠.

**REPOST** 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 ornithine transcarbamylase (OTC) deficiency is an X-linked genetic disorder marked by a complete or partial lack of the enzyme ornithine transcarbamylase. This enzyme is critical to the urea cycle as it is tasked with converting ammonia, a byproduct from the breakdown of excess protein subunits in the body, to urea so that the body can excrete it through the urine. In individuals with OTC deficiency, this enzyme does not function properly, resulting in the accumulation of ammonia in the bloodstream. The presence of excess ammonia in the blood causes complications in the nervous system, resulting in a range of severe to mild symptoms. OTC deficiency can become evident at any age, but has the most extreme effects when it occurs in infants. Symptoms in females are widely variable, with some individuals showcasing more severe clinical manifestations than others, and some not having any reported symptoms. For example, while some females only report chronic headaches following protein consumption, other individuals have been found to experience acute liver failure, hyperammonemia, and other symptoms typically seen in affected males. Additionally, some females report worsening symptoms during pregnancy and require close monitoring of protein levels by a medical team to ensure a safe delivery. Even so, females are at a heightened risk of hyperammonemic crisis during pregnancy and should consult their physician before getting pregnant. 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 Director of Neurometabolic Translational Research Center for Experimental Neurotherapeutics St. Jude Children's Research Hospital. 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 Kyowa Kirin and Amgen. For more information about our organization, check out ⁠⁠⁠⁠⁠⁠rememberthegirls.org⁠⁠⁠⁠⁠⁠. OTC resources: ⁠https://checkammonia.com/⁠ ⁠https://www.ucdincommon.com/⁠ ⁠https://nucdf.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 ornithine transcarbamylase (OTC) deficiency is an X-linked genetic disorder marked by a complete or partial lack of the enzyme ornithine transcarbamylase. This enzyme is critical to the urea cycle as it is tasked with converting ammonia, a byproduct from the breakdown of excess protein subunits in the body, to urea so that the body can excrete it through the urine. In individuals with OTC deficiency, this enzyme does not function properly, resulting in the accumulation of ammonia in the bloodstream. The presence of excess ammonia in the blood causes complications in the nervous system, resulting in a range of severe to mild symptoms. OTC deficiency can become evident at any age, but has the most extreme effects when it occurs in infants. Symptoms in females are widely variable, with some individuals showcasing more severe clinical manifestations than others, and some not having any reported symptoms. For example, while some females only report chronic headaches following protein consumption, other individuals have been found to experience acute liver failure, hyperammonemia, and other symptoms typically seen in affected males. Additionally, some females report worsening symptoms during pregnancy and require close monitoring of protein levels by a medical team to ensure a safe delivery. Even so, females are at a heightened risk of hyperammonemic crisis during pregnancy and should consult their physician before getting pregnant. Today we are brining on Kristy McCracken, a urea cycle disorder advocate who is making rare extraordinary. Carrier Connections is sponsored by Kyowa Kirin and Amgen. For more information about our organization, check out ⁠⁠⁠⁠⁠rememberthegirls.org⁠⁠⁠⁠⁠. OTC resources: https://checkammonia.com/ https://www.ucdincommon.com/ https://nucdf.org/

*This month in partnership with ⁠⁠⁠⁠PPMD⁠⁠* 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 Duchenne muscular dystrophy (DMD). Duchenne is an X-linked disorder characterized by progressive muscle weakening and is one of the most common life-limiting genetic conditions diagnosed in childhood. It is caused by a mutation in the DMD gene, which typically functions to produce a protein critical for muscle structure and function known as dystrophin. In individuals with Duchenne, this protein is absent, leading to the degeneration of muscle fibers over time and progressive muscle weakening. Duchenne is a multi-systemic condition, which means it affects many parts of the body including the heart and respiratory muscles, contributing to cardiology and breathing-related complications. Females carriers are usually not affected with Duchenne or Becker because they make enough of the dystrophin protein. However, they can have some symptoms of Duchenne, such as changes to heart function, mild muscle weakness, fatigue, or cramping in their muscles. Rarely, a carrier has symptoms that are as severe as those of a male with muscular dystrophy. The term “manifesting carrier” is often used to describe a woman who has some of the symptoms of a male with Duchenne. Carrier females have an increased chance of changes to heart function. Because a small percentage of carriers may have serious heart concerns, it is important for all women who are carriers and women who are at risk to be carriers to have regular heart evaluations, beginning in their late teens/early adult years and, if normal, repeated every 3-5 years. Today, we are featuring Dr. Mena Scavina. Dr. Mena Scavina is Professor of Pediatrics and Neurology at Thomas Jefferson University and neurologist in the Division of Neurology at Nemours Children's Health, Delaware (retired). She completed her residency in Neurology at Thomas Jefferson University Hospital followed by an MDA Research Fellowship at the Children's Hospital of Philadelphia, and a clinical fellowship in neuromuscular diseases at Nemours. She was Director of the Neuromuscular Program at Nemours, Co-Director of the MDA Certified Center since 1997 and Director of the Parent Project Muscular Dystrophy Certified Duchenne Care Center since 2017 when the clinic was certified. Dr. Scavina is a consultant for Parent Project Muscular Dystrophy and has been involved with the Certified Duchenne Care Center (CDCC) program, certifying centers throughout the country. One of her interests is in the care of carriers of Duchenne and Becker muscular dystrophy and has been involved with the development of the Duchenne and Becker Carrier Clinic in conjunction with PPMD and cardiologists at the Penn Center for Inherited Cardiovascular Disease in Philadelphia. She is certified by the American Board of Psychiatry and Neurology and a member of the American Academy of Neurology. RESOURCES: PPMD Website and section on Carriers Decode Duchenne Information PPMD Registry information Penn Medicine Duchenne and Becker Carrier Clinic PPMD Lighthouse Workshops If individuals are interested in learning more about the Monthly Virtual Carrier Meeting, they can contact emily@parentprojectmd.org. Carrier Connections is sponsored by Kyowa Kirin and Amgen. For more information about our organization, check out ⁠⁠⁠⁠⁠rememberthegirls.org⁠⁠⁠⁠⁠.

*This month in partnership with ⁠⁠⁠PPMD⁠* 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 Duchenne muscular dystrophy (DMD). Duchenne is an X-linked disorder characterized by progressive muscle weakening and is one of the most common life-limiting genetic conditions diagnosed in childhood. It is caused by a mutation in the DMD gene, which typically functions to produce a protein critical for muscle structure and function known as dystrophin. In individuals with Duchenne, this protein is absent, leading to the degeneration of muscle fibers over time and progressive muscle weakening. Duchenne is a multi-systemic condition, which means it affects many parts of the body including the heart and respiratory muscles, contributing to cardiology and breathing-related complications. Females carriers are usually not affected with Duchenne or Becker because they make enough of the dystrophin protein. However, they can have some symptoms of Duchenne, such as changes to heart function, mild muscle weakness, fatigue, or cramping in their muscles. Rarely, a carrier has symptoms that are as severe as those of a male with muscular dystrophy. The term “manifesting carrier” is often used to describe a woman who has some of the symptoms of a male with Duchenne. Carrier females have an increased chance of changes to heart function. Because a small percentage of carriers may have serious heart concerns, it is important for all women who are carriers and women who are at risk to be carriers to have regular heart evaluations, beginning in their late teens/early adult years and, if normal, repeated every 3-5 years. Today we are chatting with Alexandra Wells. Alexandra is a 26-year-old Arizona native who enjoys country concerts, watching college football, and doing DIY projects. Carrier Connections is sponsored by Kyowa Kirin and Amgen. For more information about our organization, check out ⁠⁠⁠⁠rememberthegirls.org⁠⁠⁠⁠.

*This month in partnership with ⁠⁠PPMD* 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 Duchenne muscular dystrophy (DMD). Duchenne is an X-linked disorder characterized by progressive muscle weakening and is one of the most common life-limiting genetic conditions diagnosed in childhood. It is caused by a mutation in the DMD gene, which typically functions to produce a protein critical for muscle structure and function known as dystrophin. In individuals with Duchenne, this protein is absent, leading to the degeneration of muscle fibers over time and progressive muscle weakening. Duchenne is a multi-systemic condition, which means it affects many parts of the body including the heart and respiratory muscles, contributing to cardiology and breathing-related complications. Females carriers are usually not affected with Duchenne or Becker because they make enough of the dystrophin protein. However, they can have some symptoms of Duchenne, such as changes to heart function, mild muscle weakness, fatigue, or cramping in their muscles. Rarely, a carrier has symptoms that are as severe as those of a male with muscular dystrophy. The term “manifesting carrier” is often used to describe a woman who has some of the symptoms of a male with Duchenne. Carrier females have an increased chance of changes to heart function. Because a small percentage of carriers may have serious heart concerns, it is important for all women who are carriers and women who are at risk to be carriers to have regular heart evaluations, beginning in their late teens/early adult years and, if normal, repeated every 3-5 years. Today we are chatting with Trina Stelly. Trina is a wife and mom of three and and lives in south Louisiana. In her free time, she enjoy spending time taking care of her little farmstead and all of the miniature animals. Carrier Connections is sponsored by Kyowa Kirin and Amgen. For more information about our organization, check out ⁠⁠⁠rememberthegirls.org⁠⁠⁠.

*This month in partnership with ⁠⁠ALD Connect⁠⁠* 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 adrenoleukodystrophy (ALD). ALD is a X-linked genetic disorder characterized by the deterioration of myelin, a fatty substance that serves to insulate the nerves of the brain and spinal cord. In individuals with ALD, this loss of myelin, also known as demyelination, occurs due to an issue with the gene ABCD1. Under normal conditions, this gene produces a protein essential for breaking down a class of fatty acids known as very long-chain fatty acids, or VLCFAs. When ABCD1 malfunctions, however, VLCFAs build up in the body, creating inflammation that causes myelin to deteriorate. Females with ALD have been known to present symptoms similar to males with AMN, with the exception being that these symptoms tend to manifest later in life. Rarely do females develop the cerebral version of the disease or adrenal insufficiency. The following symptoms have been documented in females with ALD: Bowel and bladder dysfunction Tingling in the hands and feet (peripheral neuropathy) Excessive muscle tone Sexual dysfunction Poor bowel and bladder control Abnormal muscle reflexes Gait disorders Walking and balance issues Today we are chatting with Dr. Florian Eichler. Dr. Eicher is an Associate Professor of Neurology at Harvard Medical School. His research focus is on the genetics of peroxisomal disorders, lipid metabolism, and spatial aspects of nuclear magnetic resonance spectroscopy. As director of the leukodystrophy clinic at the Massachusetts General Hospital he sees patients with a variety of white matter disorders. He currently holds several NIH awards funding studies to analyze metabolic changes seen in the brain by MR measures and to determine the neurotoxicity of newly discovered atypical sphingolipids. Carrier Connections is sponsored by Kyowa Kirin and Amgen. For more information about our organization, check out ⁠⁠⁠rememberthegirls.org⁠⁠⁠.

*This month in partnership with ⁠ALD Connect⁠* 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 adrenoleukodystrophy (ALD). ALD is a X-linked genetic disorder characterized by the deterioration of myelin, a fatty substance that serves to insulate the nerves of the brain and spinal cord. In individuals with ALD, this loss of myelin, also known as demyelination, occurs due to an issue with the gene ABCD1. Under normal conditions, this gene produces a protein essential for breaking down a class of fatty acids known as very long-chain fatty acids, or VLCFAs. When ABCD1 malfunctions, however, VLCFAs build up in the body, creating inflammation that causes myelin to deteriorate. Females with ALD have been known to present symptoms similar to males with AMN, with the exception being that these symptoms tend to manifest later in life. Rarely do females develop the cerebral version of the disease or adrenal insufficiency. The following symptoms have been documented in females with ALD: Bowel and bladder dysfunction Tingling in the hands and feet (peripheral neuropathy) Excessive muscle tone Sexual dysfunction Poor bowel and bladder control Abnormal muscle reflexes Gait disorders Walking and balance issues Today we are chatting with Riham. Riham, a 45-year-old Canadian mother of three wonderful boys—the eldest two are ALD heroes—has transitioned from a career as a civil engineer to a dedicated advocate for rare diseases. She enjoys planting flowers and is passionate about researching rare diseases. As a co-founder of "ALD Hope", Canada's first nonprofit organization for ALD, she assists individuals with rare diagnoses in both English and Arabic. If she spoke more languages, she would undoubtedly offer her support on a global scale. Carrier Connections is sponsored by Kyowa Kirin and Amgen. For more information about our organization, check out ⁠⁠rememberthegirls.org⁠⁠.

*This month in partnership with ALD Connect* 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 adrenoleukodystrophy (ALD). ALD is a X-linked genetic disorder characterized by the deterioration of myelin, a fatty substance that serves to insulate the nerves of the brain and spinal cord. In individuals with ALD, this loss of myelin, also known as demyelination, occurs due to an issue with the gene ABCD1. Under normal conditions, this gene produces a protein essential for breaking down a class of fatty acids known as very long-chain fatty acids, or VLCFAs. When ABCD1 malfunctions, however, VLCFAs build up in the body, creating inflammation that causes myelin to deteriorate. Females with ALD have been known to present symptoms similar to males with AMN, with the exception being that these symptoms tend to manifest later in life. Rarely do females develop the cerebral version of the disease or adrenal insufficiency. The following symptoms have been documented in females with ALD: Bowel and bladder dysfunction Tingling in the hands and feet (peripheral neuropathy) Excessive muscle tone Sexual dysfunction Poor bowel and bladder control Abnormal muscle reflexes Gait disorders Walking and balance issues Today we are chatting with Jana. Jana is from Orange County, California where she enjoys spending time with family and friends, especially her husband Rick and daughter, Olivia. She's fighting ALD with everything she has. 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 or community topic 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 highlighting the topic of discussing X-linked inheritance and carrier status with your daughter(s). Aaron Gardner joined us on this episode to share his story and experience navigating this thus far. Aaron Gardner is a 38-year-old man from Washington state who was diagnosed with adrenoleukodystrophy (ALD) nine years ago. He enjoys cooking, playing wheelchair basketball, and spending time with his wife and two kids (one of whom also has the gene mutation which causes ALD). 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 or community topic 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 highlighting the topic of discussing X-linked inheritance and carrier status with your daughter(s). Isabella & Beth, a mother-daughter duo who are both manifesting carriers of myotubular myopathy, have joined us on an episode to share their lived experience. Beth Bauer is mom to Isabella and she believes "knowledge is power and with a positive attitude anything can be accomplished!" Isabella believes "we may have to look at things differently or do things differently, but we can still have a great life!" 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 or community topic 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 highlighting the topic of discussing X-linked inheritance and carrier status with your daughter(s). Elsa and Ann have joined us on an episode to share their lived experience. Elsa is a student, lover of books, and founder of the Red Ink Project. Ann is a mother, advocate, writer, and English professor. 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 or community topic 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 highlighting the topic of discussing X-linked inheritance and carrier status with your daughter(s). Today we are chatting with Ali Conn. Ali is a pediatric genetic counselor at Rush University Medical Center in Chicago (all views expressed are her own). She has an undergraduate degree in biomedical engineering, but confirmed that her teenage love for Punnett squares actually was her calling when she graduated from genetic counseling school in 2022. She loves working with pediatric patients and their families, seeking diagnoses for adults with autism, LGBTQ+ advocacy, and will probably show you pictures of her dogs. 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 chatting with Elizabeth Olear. Elizabeth Olear is the Senior Clinical Research Associate at the Yale Center for XLH in the division of Pediatric Endocrinology at Yale School of Medicine. She leads a team conducting clinical trials in rare bone metabolism and research involving long-term sequelae of these disorders. She has been at Yale for over 17 years and has been actively involved in the research efforts on X-linked hypophosphatemia. Elizabeth has a strong commitment to advocacy and education for patients in the rare disease community. She currently serves on the Board of Directors for The XLH Network, Inc. and is a founding member of The International XLH Alliance. 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 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.