A recent New York Times article discusses the inexactness of prenatal testing and how false positives about genetic markers of rare disease can cause anxiety. Read genetic counselor Elizabeth Kearney’s response, where she expertly addresses the inaccuracies and assumptions made in the article.

The PMG Awareness Organization is a nonprofit organization of families, caregivers, and medical professionals that support those with Polymicrogyria and raise awareness of this rare disease. Learn more about their goals and upcoming events.

Al dar la bienvenida al 2022, Laura Will elige la autocompasión como su propósito de Año Nuevo. Profundiza en la descripción de los tres elementos clave de la autocompasión, revelando sus múltiples beneficios. En lugar de recurrir a pensamientos autocríticos para guiar otro propósito efímero, Laura nos invita a aceptar nuestro yo imperfecto y emocional, a practicar la bondad hacia nosotros mismos y a canalizar hacia nuestro interior algo de energía afectuosa.

Rare Patient Voice es una empresa de estudios de mercado que pone en contacto a pacientes y cuidadores con iniciativas para que puedan compartir sus opiniones con investigadores y empresas dedicadas al desarrollo de productos médicos, tratamientos y servicios.

The Alagille Syndrome Alliance is an international nonprofit that strives to create a loving and supportive community for all ALGS Warriors. Learn more about their mission and the several goals that they aspire to achieve.

Learn more about the National Society of Genetic Counselors (NSGC), an association which promotes the professional interests of genetic counselors and offers a network for professional communications. Access the full article to read about their mission, vision, and history.

Read about the importance of supporting employees who are also rare disease caregivers. Gina D. Wagner argues that employers must address their needs and implement significant changes in the workplace, and offers five ways organizations can create a balance between work and life for these caregivers.

The Center for the treatment of Pediatric Neurodegenerative Disease strives to centralize care for children afflicted with these rare, chronic, and debilitating diseases. The Center includes a multidisciplinary team of physicians and other healthcare providers offering comprehensive services to aid in the diagnosis, management, and social support of children and their families suffering from neurodegenerative diseases.

After her infant son was diagnosed with a rare brain malformation, Laura had an identity crisis. She was no longer just-a-mom, but also a family caregiver. Although this newly acquired title may be emotional and exhausting at times, Laura discovered in herself unforeseen skills and a remarkable strength. She delves into the description of the four states of a caregiver’s identity and creates a beautiful metaphor for this extraordinary role.

Aunque no puedo estar segura del futuro de la salud de mi hijo, he encontrado cosas en las que puedo confiar: sus médicos, su asistente personal, mi pareja, la cafetera, las risas y mi deseo de cuidar de mi hijo. Nombrar aquellas cosas en las que confiamos puede ofrecernos cierta sensación de control. Con esa confianza, el miedo se mantiene a raya; y, si prestamos atención, pequeños momentos de esperanza comienzan a desplegarse ante nosotros.

Rare Resiliency is a monthly column written and/or curated by Laura Will. This column explores the concepts and skills that play a protective role against chronic and acute stress. Each article challenges and encourages the reader to continue to develop that inner steadying strength as they face illness and uncertainty, sorrow and joy.

Para las personas con miopatías mitocondriales primarias (PMM), resulta tranquilizador saber que nuevos estudios siguen investigando los activadores del PPAR-δ como una posible vía para estimular la actividad mitocondrial, aumentar la producción de energía y mejorar el rendimiento de las células del músculo esquelético.

The National Alliance for Caregiving is an organization that’s dedicated to improving the quality of life for both caregivers and those in their care. With an emphasis on friend and family caregivers, the NAC aims to advance research, advocacy and innovation in all areas of caregiving.

The National Alliance for Caregiving (NAC), in partnership with Global Genes, has released a new handbook that offers support, advice, and guidance for unique challenges and unique rewards of caring for a child with a rare or serious disease.

After Laura Will’s son was diagnosed with a rare condition, she felt unsure how to talk to her kids about the diagnosis and corresponding disability. She’s found that children’s books have been a wonderful way to safely initiate conversations with her children about the difficult topics that exist within the world of rare disease. In this article she shares her list of book recommendations with the Know Rare community.

The Myasthenia Gravis Rare Disease Network (MGNet) is a consortium of academic medical centers partnering with the Myasthenia Gravis Foundation of America and Conquer MG as well as collaborators in other research groups and industry. We are working together to enhance therapeutic development for this rare disease.

The mental health community defines complicated grief as a severe form of mourning that doesn’t resolve with time. In this article, Gina D. Wagner expresses her experience with complicated grief after the loss of her brother who lived with Prader-Willi syndrome along with what she’s learned along the way.

Gina Wagner grew up with a brother with unexplained behaviors and health concerns which were later explained as to be symptoms of Prader-Willi syndrome. In this piece she shares 3 things she wishes she would have known.

Howard Wooley shares what he learned about caring for his wife who had sickle cell disease.

Families affected by rare genetic disease may have questions about whether others in the family will develop the disease, particularly if they or their children are affected. Here is some advice from a genetic counselor.