Dravet syndrome

��ֳ� Supports International Dravet Syndrome Awareness Day

Andrea_Puletto — Fri, 21 Jun 2024 10:36:31 +0000

��ֳ� Supports International Dravet Syndrome Awareness Day

Andrea Wilkinson, Global Epilepsy & Rare Syndromes

Andrea_Puletto Fri 21/06/2024 - 12:36

We are proud to recognize and celebrate the dedicated families from around the world who are living with Dravet syndrome as well as those who are raising awareness and fundraising for this rare, challenging, and life-long developmental and epileptic encephalopathy that begins in infancy.

At ��ֳ�, we seek to reduce the isolation faced by so many individuals, families, and caregivers. Through educational awareness, we’re helping to reduce the stigma faced by the Dravet syndrome community and the epilepsy community as a whole.

In recognition of International Dravet Syndrome Awareness Day, we have taken the opportunity to reflect on how ��ֳ� supports those affected by this rare condition and what more still needs to be done to improve patients’ lives.

Advocating for those affected by Dravet Syndrome

We recognize the remarkable work done by the experts in the Dravet Syndrome community, including caregivers, nurses, doctors, therapists, and researchers, to enhance the quality of life for those affected by the condition and their families. Within this community, it is the families living with a diagnosis who are the true experts on their condition, and it is their lived experiences that guide our journey.

We work closely with patient groups and our advocacy partners to ensure that this community influences every aspect of our research as well as our efforts to educate and provide support tools to those affected by the condition. For example, we developed a special episode of ��ֳ�’s Raring to Listen Podcast titled ‘Finding Your Community’ which highlights the importance of these support networks in fighting isolation and improving quality of life. You can also visit the Dravet Syndrome Foundation (US), Dravet Syndrome UK, Fundación Síndrome de Dravet (SP), Dravet Syndrome European Federation, and the Dravet Syndrome Japan websites, just to name a few, to find out more about the activities being undertaken by the community.

Addressing unmet needs

Despite advances in epilepsy research, those living with Dravet syndrome have a mortality rate of up to 20% by the age of 20. Furthermore, less than 10% of people with Dravet syndrome experience freedom from their persistent seizures, even though more than 30 anti-seizure medications are currently available on the market. We recognize that more still needs to be done to address unmet needs, and remain committed to developing transformative therapies that will change the course of epilepsies and help people to live better quality lives. A key part of this is also expanding our research focus beyond seizures to improving non-seizure outcomes, such as the emotional and cognitive aspects of Dravet syndrome, which play a vital role in enhancing the lives of individuals, families, and caregivers.

One example of this is ��ֳ�’s recent collaboration with the Dravet Syndrome Foundation on research to investigate the unique challenges faced by caregivers of recently or newly diagnosed children. We found some encouraging advancements. Notably, 71% of children were diagnosed with Dravet syndrome before their first birthday, at an average of 7 months following symptom onset - a significant stride forward in earlier detection. However, the research also highlighted 29% of children still receive their Dravet syndrome diagnosis between 13 to 34 months of age, a timeframe that must be reduced globally to enable early interventions and improve outcomes.

Post diagnosis, many caregivers feel overwhelmed by information and stressed to find the appropriate healthcare team. This is emphasized by the research which revealed that 71% of families switched specialists within four years of diagnosis, with 51% identifying a need for a Dravet syndrome specialist and 20% citing a need for additional follow-up care. Overall, these findings underline the importance of personal provider-patient relationships that build trust. The research also found that 80% of caregivers relied on trusted patient advocacy groups and resources like Shine forward with Dravet, to better understand patients’ lived experiences and to reduce feelings of isolation.

Looking to the future

Beyond the important research taking place across the epilepsies, progress is needed in addressing stigma. Not only for patients and families living with Dravet Syndrome but for the broader epilepsy community. Supporting increased awareness of these conditions globally is not limited to awareness days, it is central to our day-to-day work. We believe that a big part of this comes from amplifying patient voices and hearing their stories firsthand.

This is why we continue to support transformative projects like "It's All Your Fault, Tyler Price!", a Broadway musical premiering in Los Angeles, California in November that aims to destigmatize epilepsy and raise awareness about people living with epilepsy, or caring for someone experiencing daily seizures. The story follows Jackson, a middle school boy, who is navigating his feelings and emotions as he and his family act as caregivers to his sister Lucy who has epilepsy as well as related learning challenges. By exposing new audiences who know little about these conditions to authentic representations of life with epilepsies, we can begin to address the stigma associated with these conditions.

On International Dravet Syndrome Awareness Day we stand with the Dravet community and encourage everybody to reflect on the importance of doing all we can to support those affected by this condition. To learn more about living with Dravet syndrome, visit our Impacting Dravet Syndrome page.

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The vital role of patient advocacy groups in navigating rare and complex epilepsies

Vanco Vlastimil (��ֳ� S.A.) — Mon, 09 Oct 2023 11:30:10 +0000

The vital role of patient advocacy groups in navigating rare and complex epilepsies

Andrea Wilkinson, Global Patient Engagement, Epilepsy & Rare Syndromes

Vanco Vlastimi… Mon 09/10/2023 - 13:30

The Rare and Complex Epilepsies patient community play a crucial role in gathering valuable patient and caregiver experience data and providing essential information and support resources throughout the diagnosis and management journey.

Within the Rare and Complex Epilepsies patient community, there is a significant contribution to identifying unmet needs and developing tailored solutions to support families coping with the diagnosis. ��ֳ� recently collaborated with the Dravet Syndrome Foundation to investigate the unique challenges faced by caregivers when recently or newly diagnosed. Together, we co-created a survey deployed to caregivers with children <4 years of age living with Dravet syndrome to better understand the unmet needs and experiences of caregivers early in their journey. The survey findings were recently co-presented at the 52nd annual Child Neurology Society meeting in Canada.

Regarding diagnosis, we should celebrate the progress that has been made advancing earlier diagnosis in recent years. The survey revealed:

71% of children received a Dravet syndrome (DS) diagnosis before their first birthday with an average time of 7 months from symptom onset to diagnosis.
Every caregiver who participated in the survey reported a supporting genetic test result.

However, there remains room for improvement to shorten the time from symptom onset to diagnosis, as 29% of children received their DS diagnosis between 13 to 34 months of age, considerably later than the onset of seizures. Recognizing this delay, the ‘International consensus on the diagnosis and management of Dravet syndrome’ underscores that "expedient diagnosis is critical to avoid contraindicated therapies that may exacerbate seizures and negatively impact development." Ultimately, “an accurate diagnosis can be beneficial at any age, not only guiding treatment choices but also connecting families to networks of support.”

Upon receiving a DS diagnosis, some caregivers often feel overwhelmed, and others found the information helpful/empowering. A primary challenge expressed by caregivers was finding the right healthcare team. Surprisingly, 71% of newly diagnosed families managing Dravet syndrome changed epilepsy doctors within the first four years due to a lack of clinical expertise (51%) and/or trust issues (20%), such as "insufficient follow-up care," and "poor rapport."

The survey also revealed evolving needs among caregivers in learning about the emergence of non-seizure symptoms like intellectual disability, behavioral issues, and sleep disorders, along with a growing demand for greater family support.

After receiving a DS diagnosis, caregivers typically turn to online resources (82%), trusted patient advocacy organizations (81%), support groups (68%), and healthcare providers (64%) for information.

Patient groups like the Dravet Syndrome Foundation play a pivotal role as an extension of the medical community, providing easily understandable resources and fostering supportive communities that significantly enhance the lives of those affected by this condition. Healthcare providers should continue to refer and strongly encourage caregivers to connect with groups like the Dravet Syndrome Foundation to enhance their understanding of the diagnosis and improve family well-being. Together we have the power to make a difference in the lives of individuals and families living through their diagnosis and care journey.

About the survey:

The survey was distributed via the Dravet Syndrome Foundation International Family Network to caregivers of children ≤4 years of age diagnosed with DS. The survey included 27 multiple-choice questions and 9 open-text response questions. The survey was distributed to 352 caregivers in total; 73 (20.7%) responded.

To receive a copy of the poster email: ��ֳ�Cares@ucb.com.

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Rare and Complex Epilepsies Dravet syndrome Child Neurology Society Neurology

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Prioritizing awareness and access for people living with a rare disease

Vanco Vlastimil (��ֳ� S.A.) — Tue, 28 Feb 2023 10:30:46 +0000

Prioritizing awareness and access for people living with a rare disease

Charl van Zyl, EVP Neurology Solutions & Head of Europe/International Markets

Vanco Vlastimi… Tue 28/02/2023 - 11:30

There are 300 million people in the world today living with a rare disease. Over 6,000 rare diseases are characterized by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient-to-patient suffering from the same disease. Almost half of these diseases are neurological, and 90% of rare childhood disorders have major neurological effects.

However, with each rare disease affecting so few people, these conditions are often overlooked. The resulting lack of awareness of rare diseases remains a problem, with up to 90% of these conditions considered serious or life-threatening. In addition, although we have made tremendous progress in advancing innovation for rare diseases, 95% of rare diseases still do not have a treatment option, representing a significant unmet need.

More than ever, it’s essential that attention is prioritized on rare diseases.

This Rare Disease Day, we’re joining the global movement to raise awareness and knowledge about rare diseases. We fully support the mission of this important milestone, promoting equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease. For ��ֳ�, these are all driving forces behind our commitment to the rare disease community.

There are so many areas where industry can play a role in helping to create change for people living with rare disease.

Increasing equity for people living with a rare disease in one of our priorities. It’s imperative that those living with a rare disease have equitable access to health, social care, diagnosis, and treatment. As part of our mission to address this, we’re conducting a health economics (HECON) report to better define the burden of illness of generalized myasthenia gravis (gMG) to help address these challenges and help make change for patients.

At ��ֳ�, we strive toward faster clinical trial processes in order to get new treatments out as soon as possible; work on collecting data from rare disease patients so that their “real world” experience is represented and appreciated; involve patient expertise more closely during the development process so we can listen, learn and adapt; plus much more – all with one goal: improving knowledge around these unique conditions while helping relieve some of the pressures they put on individuals, families, healthcare systems, and society alike.

��ֳ� has a growing portfolio – both approved and investigational/early research – in rare diseases including Dravet syndrome, Lennox-Gastaut syndrome, gMG, MOG, TK2d and CDKL5 deficiency disorder, and other rare epilepsies. All these conditions have unique patient populations with their own needs and challenges and will treat them all with the respect and care they deserve.

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Rare Disease Day Patients generalized myasthenia gravis Dravet syndrome Lennox-Gastaut syndrome MOG TK2d CDKL5

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Today marks International Dravet syndrome Awareness Day

Vandenbruaene Nathalie — Thu, 23 Jun 2022 06:33:51 +0000

Today marks International Dravet syndrome Awareness Day

Mike Davis, Patient Value Neurology & Europe/International Solutions

Vandenbruaene … Thu 23/06/2022 - 08:33

Often described as a complex form of epilepsy, Dravet syndrome is a rare, devastating, and life-long condition that begins in infancy and is marked by frequent treatment-resistant seizures, significant developmental and motor impairments that persist into adulthood, and an increased risk of sudden death.

On this day we recognize, honour, and celebrate every advocacy organization and those dedicated families from around the world who are fundraising and raising awareness of Dravet syndrome.

By raising awareness, we can increase knowledge in the general public; improve early diagnosis; assure that patient families have the information they need to manage their loved one’s care; and reduce the feelings of isolation faced by patients and their families.

Anyone who has worked or is working with patients and families living with Dravet Syndrome knows that the condition needs to be managed round the clock, 365 days a year.

As a company we have witnessed first-hand the remarkable work being done by caregivers, nurses, doctors, therapists, and researchers to make every day a little better for Dravet patients and their families. We are acutely aware of the ongoing unmet medical need for people living with this condition, and as a company we are committed to playing our part to help.

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International Dravet syndrome Awareness Day Dravet syndrome Dravet epilepsy

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Strengthening our commitment for people living with epilepsy

Vandenbruaene Nathalie — Wed, 09 Mar 2022 15:41:13 +0000

Strengthening our commitment for people living with epilepsy

Charl van Zyl, EVP Neurology Solutions & Head of Europe/International

Vandenbruaene … Wed 09/03/2022 - 16:41

This week ��ֳ� announced the successful acquisition of Zogenix. The acquisition reinforces ��ֳ�’s sustainable patient value strategy, broadening and building upon our role in addressing unmet needs of people living with specific or rare forms of epilepsy.

Rare forms of epilepsy such as Dravet syndrome, have a significant impact on quality of life and if not identified early and treated appropriately, can lead to an elevated mortality rate than in the general epilepsy population. There is a clear urgency in identifying new solutions for people living with these rarer forms of epilepsy to ensure that they, and their families, have access to the care they need.

Zogenix is a company that is passionate about tackling these challenges and is committed to developing therapies with the potential to transform the lives of patients and their families living with rare diseases, such as Dravet syndrome and Lennox-Gastaut syndrome.

At ��ֳ�, we share this ambition of bringing even greater value for people living with different forms of epilepsy. We have provided solutions that have helped transform the epilepsy landscape and improve the lives of millions of people. However, we understand that much more needs to be done to allow people living with different forms of epilepsy live their best lives.

We are very pleased to reach today’s milestone and to welcome the Zogenix team to the ��ֳ� family. We have a lot of important work ahead of us to deliver on our ambitions, and we look forward to working together to deliver greater value for people living with epilepsy.

See the press release here.

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Zogenix epilepsy Dravet syndrome Lennox-Gastaut syndrome

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Dravet syndrome

��ֳ� Supports International Dravet Syndrome Awareness Day

Advocating for those affected by Dravet Syndrome

Addressing unmet needs

Looking to the future

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The vital role of patient advocacy groups in navigating rare and complex epilepsies

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Prioritizing awareness and access for people living with a rare disease

Leave a Comment

Today marks International Dravet syndrome Awareness Day

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Strengthening our commitment for people living with epilepsy

Leave a Comment

Dravet syndrome

������ֳ� Supports International Dravet Syndrome Awareness Day

Advocating for those affected by Dravet Syndrome

Addressing unmet needs

Looking to the future

Leave a Comment

The vital role of patient advocacy groups in navigating rare and complex epilepsies

Leave a Comment

Prioritizing awareness and access for people living with a rare disease

Leave a Comment

Today marks International Dravet syndrome Awareness Day

Leave a Comment

Strengthening our commitment for people living with epilepsy

Leave a Comment

��ֳ� Supports International Dravet Syndrome Awareness Day