The Rare Disease Gazette #19 E-Book

Collectif

• Herausgeber: Fondation Ipsen Press
• Kategorie: Wissenschaft und neue Technologien
• Serie: The Rare Disease Gazette
• Sprache: Englisch
• Veröffentlichungsjahr: 2024

Seitenzahl: 45

Beschreibung

The journal Science (American Association for the Advancement of Science) in collaboration with Fondation Ipsen delivers international science webinars for the general public. In 2023, these webinars focused on advocacy in rare diseases. The Rare Disease Gazette is a magazine that broadcasts these discussions. In this edition, Erika Berg, PhD, hosts a conversation about advocacy in rare disease: Taking care of caregivers.

There are more than 10 million caregivers across the UK. About 12% of the population of Northern Ireland contributes more than 2.4 million hours of unpaid work per week. And yet supporting caregivers is so neglected.

Leseprobe

Couverture

Editorial

Editorial

by James A. Levine

MD, PhD, Président, Fondation Ipsen

www.fondation-ipsen.org

Rare Disease Detection: Rare But Not Alone

The plight of patients with rare diseases is a critical unmet need of patients in healthcare. The statistics are frightening; there are 7000 rare diseases in the world that affect 350,000,000 people. One in eleven Americans has a rare disease. Three-quarters of patients with rare diseases are children and only half of patients receive an accurate diagnosis. The average delay for a patient to receive a diagnosis with a rare disease is 1 1/2 years. It is deeply concerning that one in four patients with a rare disease waits four years for an accurate diagnosis. There is an urgent need to communicate knowledge and expertise in the field of rare disease detection.

The journal Science, (American Association for the Advancement of Science) in collaboration with Fondation Ipsen delivers international science webinars for the general public. In 2022, these webinars focused on building solutions to improve the detection of rare diseases. The Rare Disease Gazette is a magazine that broadcasts these discussions.

The Conversation

Experts of the month:Erika Gebel Berg, Ph.D, hosts a conversation with world’s experts about Advocacy in rare disease: Taking care of caregivers.

The Conversation

The Conversation

Experts of the month

Maria Della Rocca (Global Genes, Washington, DC)

Erika Gebel Berg, Ph.D. (Science/AAAS, Washington, DC; moderator)

Catherine Alicia Georges (Lehman College, Bronx, New York)

Parvathy Krishnan (Krishnan Family Foundation, Cary, North Carolina)

Amy Jayne McKnight (Queen’s University Belfast, Northern Ireland)

Erica Gebel Berg (host):

Hello everyone and welcome to our fifth webinar in our 2023 science series on advocacy in rare disease, entitled Taking Care of Caregivers. I am Erica Berg, Director and Senior Editor for Custom Publishing at Science, and I will be the moderator for this discussion.

The COVID-19 pandemic brought into focus for many the enormous stress and sacrifice experienced by caregivers. Those caring for individuals with rare diseases have long faced challenges from navigating complex medical systems to providing emotional support for their loved ones. Many caregivers also feel the need to act as advocates for their loved ones, working with governments, patient groups and other stakeholders to try to improve the lives of those under their care. Too often, the plate of the caregivers themselves is overlooked, but advocates are working to make change.

In this panel discussion, we will explore the advocacy efforts aimed at easing the burden of caregiving for rare diseases. I would now like to take the opportunity to welcome a truly wonderful panel today.

Catherine Alicia Georges:

My name is Catherine Alicia Georges and I have been a caregiver myself, as my husband had Parkinson’s for 14 years. I am also a registered nurse and even though I knew a whole lot, it was important for me to learn more about advocacy and caregiving. In my role on the board of AARP and being on the RAISE Family Caregiving Council, I have learned so much more from caregivers across this country so I am honored to be part of this panel.

Parvathy Krishnan:

My name is Parvathy Krishnan and I am a mom to two medically complex children with multiple genetic conditions. They receive care across various institutions in the country and so we travel far and wide to provide them with the care that they need. My daughter passed away when she was four years old after living with multiple medical conditions. Caregiving looks very different now as a mom to medically complex children than what it was when I was a registered dietician doing clinical care. Life took on a completely different meaning. Through my work and my experience in advocating for my children on a micro level, I then took it to a macro level by starting our own foundation and supporting caregivers and patients in our community.

Amy Jayne McKnight:

I am a professor of molecular epidemiology and public health at Queen’s University Belfast. Effectively, I run really busy research laboratories and I have a passionate interest in supporting rare disease communities, whether that is improving diagnosis or helping people live as well as possible for as long as possible. I have been really fortunate to be able to participate in multiple working groups that have influenced rare disease policy and practice. I also co-lead the All Ireland Rare Disease Interdisciplinary Research Network, known as RAiN.

Maria Della Rocca:

My name is Maria Della Rocca. I am trained as a bilingual genetic counselor and have been in the rare disease space for over 20 years. I have served in multiple capacities in the clinical setting as well as on the support and education side. In addition to providing support and working very closely with lots of families that have rare and genetic diseases, I have also had the opportunity to work very closely with my family members, some of whom have been diagnosed with rare diseases. Seeing the caregiver’s perspective and providing support to some of those caregivers is another perspective that I bring to the table today.

Erica Gebel Berg (host):

I am going to put the first question to Parvathy. Can you give us an overview of some of the unique challenges that caregivers of individuals with rare diseases face compared to caregivers of individuals with more common conditions?

Parvathy Krishnan: