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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 ornithine transcarbamylase (OTC) deficiency.

OTC deficiency is an X-linked genetic disorder marked by a complete or partial lack of the enzyme ornithine transcarbamylase. This results in the accumulation of ammonia in the bloodstream and causes complications in the nervous system, resulting in a range of severe to mild symptoms. Approximately 20% of OTC females experience symptoms. Some females do not express excess ammonia levels until pregnancy. Females who do develop symptoms in childhood often experience headaches after protein ingestion. A study determined that girls with OTC deficiency may exhibit episodes of hyperammonemic encephalopathy, or ammonia buildup in the brain, and cognitive decline.

Today, we are joined by Andrea Gropman, M.D., FAAP, FACMG, FANA. Dr. Gropman is the Chief of Neurogenetics and Neurodevelopmental Pediatrics at Children's National. She is also is the principal investigator of the Urea Cycle Disorders Consortium (UCDC) and the UCDC imaging consortium and the deputy clinical director of the Mito EpiGen Program. Her research interest focuses on establishing biomarkers of neurological injury in patients with inborn errors of metabolism, such as urea cycle disorders and mitochondrial disorders, using specialized neuroimaging modalities and cell markers.

Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.

Each month, our Carrier Connections program features a different X-linked condition with the goal to increase awareness and education of X-linked conditions and how they impact females.

This month, we are featuring ornithine transcarbamylase (OTC) deficiency. OTC deficiency is an X-linked genetic disorder marked by a complete or partial lack of the enzyme ornithine transcarbamylase. This results in the accumulation of ammonia in the bloodstream and causes complications in the nervous system, resulting in a range of severe to mild symptoms. Approximately 20% of OTC females experience symptoms. Some females do not express excess ammonia levels until pregnancy. Females who do develop symptoms in childhood often experience headaches after protein ingestion. A study determined that girls with OTC deficiency may exhibit episodes of hyperammonemic encephalopathy, or ammonia buildup in the brain, and cognitive decline.

Today, we are bringing on Autumn Prince to share her story with OTC deficiency. She is a 30 year old young adult living in Ontario, Canada with her fiance and new dog Duke. She is a dancer, likes to cook, and loves fitness and shopping. These past few years she has been spending her time working within the rare disease community raising awareness. She hopes to be the change within our community!

Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.

Each month, our Carrier Connections program features a different X-linked condition with the goal to increase awareness and education of X-linked conditions and how they impact females.

This month, we are featuring ornithine transcarbamylase (OTC) deficiency. OTC deficiency is an X-linked genetic disorder marked by a complete or partial lack of the enzyme ornithine transcarbamylase. This results in the accumulation of ammonia in the bloodstream and causes complications in the nervous system, resulting in a range of severe to mild symptoms. Approximately 20% of OTC females experience symptoms. Some females do not express excess ammonia levels until pregnancy. Females who do develop symptoms in childhood often experience headaches after protein ingestion. A study determined that girls with OTC deficiency may exhibit episodes of hyperammonemic encephalopathy, or ammonia buildup in the brain, and cognitive decline.

Today, we are bringing on Aimee Boisvert to share her story with OTC deficiency. She is a patient with OTC deficiency and was diagnosed at 13 years old. She is a 3rd grade teacher. In her free time she loves to read, bike ride, and spend time outdoors.

Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.

Each month, our Carrier Connections program features a different X-linked condition with the goal to increase awareness and education of X-linked conditions and how they impact females. This month, we are featuring Fabry disease.

Fabry Disease is a rare X-linked genetic disorder caused by a mutation in the gene GLA that impairs the efficient breakdown of fatty acids, or lipids in the cell. This mutation on the X chromosome results in the buildup of fat in the body’s cells, causing issues in the kidney, heart, and nervous system. Females tend to have a variable course of Fabry disease with some experiencing severe symptoms while others experience less severe symptoms than males or none at all. The most common symptoms in females affected by Fabry disease are neuropathic pain, angiokeratoma (a type of skin finding), proteinuria (high levels of protein in urine), buildup in the cornea of the eyes, and cardiac disease. Additionally, 10% of females experience renal failure and need dialysis.

Today, we are joined by Dawn Laney, MS, CGC, CCRC. Dawn is a genetic counselor, instructor, researcher, director of the Emory Genetic Clinical Trials Center, and program leader of the Emory Lysosomal Storage Disease Center at Emory University in the Department of Human Genetics. Dawn received her master’s degree in medical genetics from the Sarah Lawrence College in 1999. She received her certification from the American Board of Genetic Counseling in 2002. Since joining the Emory Division of Medical Genetics in 2002, Dawn has been involved in follow-up of abnormal metabolic newborn screening for the state of Georgia, development and management of a genetic infusion center, and lysosomal storage disease clinical care and research. She is currently the program leader for the Emory Lysosomal Storage disease center and the director of the Emory Genetic Clinical Trials Center. She serves on the Emory biomedical IRB committee. Dawn is the instructor for the Developmental Biology and Human Malformation course at Emory University.

Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.

Each month, our Carrier Connections program features a different X-linked condition with the goal to increase awareness and education of X-linked conditions and how they impact females.

This month, we are featuring Fabry disease. Fabry Disease is a rare X-linked genetic disorder caused by a mutation in the gene GLA that impairs the efficient breakdown of fatty acids, or lipids in the cell. This mutation on the X chromosome results in the buildup of fat in the body’s cells, causing issues in the kidney, heart, and nervous system. Females tend to have a variable course of Fabry disease with some experiencing severe symptoms while others experience less severe symptoms than males or none at all (NORD).  However, recent research has determined that the most common symptoms in females affected by Fabry disease are neuropathic pain, angiokeratoma (a type of skin finding), proteinuria (high levels of protein in urine), buildup in the cornea of the eyes, and cardiac disease. Additionally, 10% of females experience renal failure and need dialysis.

Today, we are bringing on Taylor Hoffman to share her story with Fabry disease. Taylor is a 17-year-old rare disease advocate who is passionate about raising awareness of the impacts of Fabry disease on female patients. She is looking forward to being part of clinical trials for Fabry disease in the future.

Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.

Each month, our Carrier Connections program features a different X-linked condition with the goal to increase awareness and education of X-linked conditions and how they impact females.

This month, we are featuring Fabry disease. Fabry Disease is a rare X-linked genetic disorder caused by a mutation in the gene GLA that impairs the efficient breakdown of fatty acids, or lipids in the cell. This mutation on the X chromosome results in the buildup of fat in the body’s cells, causing issues in the kidney, heart, and nervous system. Females tend to have a variable course of Fabry disease with some experiencing severe symptoms while others experience less severe symptoms than males or none at all (NORD).  However, recent research has determined that the most common symptoms in females affected by Fabry disease are neuropathic pain, angiokeratoma (a type of skin finding), proteinuria (high levels of protein in urine), buildup in the cornea of the eyes, and cardiac disease. Additionally, 10% of females experience renal failure and need dialysis.

Today, we are bringing on Claire O'Meara to share her story with Fabry disease. Claire is a coffee lover, fur baby mamma and nutritional therapist. She is a lover of all things health and well-being and can often be found geeking out in medical books always seeking to learn more about fabry Disease. 

Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.

Each month, our Carrier Connections program features a different X-linked condition with the goal to increase awareness and education of X-linked conditions and how they impact females. This month, we are featuring Pelizaeus-Merzbacher disease.

Pelizaeus-Merzbacher disease (PMD) is a rare X-linked condition affecting the brain and spinal cord caused by mutations on the PLP1 gene. It is a type of leukodystrophy, which means it involves abnormal development of white matter in the brain. Since PMD is an X-linked disease, carriers have a 50% chance of passing the condition onto their children. Additionally, some carriers may experience neurological symptoms, particularly if they have a nonsense or null mutation.

Today, we are bringing on Angi Dunham to share her story with PMD. Angi Dunham is a wife to Brandon, mom to Kathlyn and Brant, bonus mom to Kailey and Kendall, daughter, sister and business owner. Married for 13 years this coming July, the family welcomed their first child together, their daughter Kathlyn 2 days before their 1 year anniversary and decided to grow by one more 8 years later with Brant and when he was 13 months was diagnosed with Pelizaeus-Merzbacher disease.

Carrier Connections is sponsored by Horizon Therapeutics and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.

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