collectively coeXisting

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 Foundation
• Retinal Characteristics of Female Choroideremia Carriers: Multimodal Imaging, Microperimetry, and Genetics
• Longitudinal assessment of female carriers of choroideremia using multimodal retinal imaging
• Female carriers of X-linked inherited retinal diseases - Genetics, diagnosis, and potential therapies

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:

⁠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 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:

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:

If individuals are interested in learning more about the Monthly Virtual Carrier Meeting, they can contact [email protected].

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.