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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.

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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.