*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.