��ֳ� Supports International Dravet Syndrome Awareness Day

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

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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Supporting International CDKL5 Day

Andrea_Puletto — Mon, 17 Jun 2024 09:13:13 +0000

Supporting International CDKL5 Day

Nick Francis, Neurology Communication

Andrea_Puletto Mon 17/06/2024 - 11:13

Every June the CDKL5 community comes together to recognize CDKL5 disorder, and promote awareness efforts, research, collaboration, and fundraising.

June 17 is International CDKL5 Day, in memory of Glyn Boltwood, whose life and legacy was directly responsible for the medical and scientific community discovering CDKL5 Disorder in 2004.

CDKL5 deficiency disorder – a Developmental and Epileptic Encephalopathy (DEE) - is a genetic disorder that causes seizures, developmental delay, and severe intellectual disability. Seizures typically begin within a few months after birth and are difficult to control with medications. Most children have 1 to 5 seizures every day. Other symptoms include problems with sleeping, feeding, and teeth grinding. Gastrointestinal symptoms are also common and may include constipation, reflux, and air swallowing.

About 1 in 5 children use a feeding tube. CDKL5 deficiency disorder occurs more often in females than males, and males usually have more severe symptoms. This disorder is caused by a change (pathogenic variant) in the CDKL5 gene that is usually not inherited from either parent (de novo). It is an X-linked dominant disorder. CDKL5 deficiency disorder was once thought to be a variant of Rett syndrome but is now considered a separate disorder.

For more useful resources and information, visit:

https://rarediseases.info.nih.gov/diseases/12173/cdkl5-deficiency-disorder

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neurology CDKL5 seizures Developmental and Epileptic Encephalopathy

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Developmental and Epileptic Encephalopathy

��ֳ� Supports International Dravet Syndrome Awareness Day

Advocating for those affected by Dravet Syndrome

Addressing unmet needs

Looking to the future

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Supporting International CDKL5 Day

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Developmental and Epileptic Encephalopathy

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

Advocating for those affected by Dravet Syndrome

Addressing unmet needs

Looking to the future

Leave a Comment

Supporting International CDKL5 Day

Leave a Comment

��ֳ� Supports International Dravet Syndrome Awareness Day