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:
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. 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:
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 bringing 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:
*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:
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:
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:
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:
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.