Neurology

Moms Really Can Do It All - Meet Tracy: a Mom, Caregiver, Neuroscientist, and Advocate in the Rare Disease Community

Borysiuk Viktor (External) — Fri, 25 Oct 2024 11:32:26 +0000

Moms Really Can Do It All - Meet Tracy: a Mom, Caregiver, Neuroscientist, and Advocate in the Rare Disease Community

Becky Malone, US Communication

Borysiuk Vikto… Fri 25/10/2024 - 13:32

Each of us, throughout some stage in our life, will likely take on the role of a caregiver – of a child, a parent, or even a spouse or friend. Once we take that step, we are notorious for not taking care of ourselves in the same way we provide for others. In my own experience caring for a daughter living with a severe, life-threatening and rare form of epilepsy called Lennox-Gastaut syndrome (LGS), I am all too familiar with the mental burden that caregivers carry with them and the overall tendency to put our own needs last. It can be easy to lose yourself in everyday moments when your time and mental energy are so singularly focused on someone else’s care. Supporting a person who you love not only takes precedence above all else but is reinforced by the rewarding feelings it brings. At the same time, daily challenges can add up, slowly chipping away at your own quality of life and self-care.

LGS is a form of developmental and epileptic encephalopathy (DEE) that typically develops in childhood and results in frequent and difficult-to-treat seizures. People living with LGS experience a variety of complications, including frequent and severe seizures, significant behavioral and developmental delays, movement and balance issues, and sleep difficulties. Even more devastating, they are 24 times more likely to die of premature mortality, including sudden unexpected death in epilepsy (SUDEP). These ongoing challenges can create significant obstacles for both patients and their caregivers, as the condition often requires consistent and lifelong management to mitigate the dangerous side effects and detrimental impacts on quality of life.

I distinctly remember the terrifying moment I woke to the sound of my 2-year-old daughter, Savannah, making choking noises. Rushing in, we found her convulsing in her crib. I’ll never forget the words of the paramedic that night who said, ‘Her airway is clear, but what you just described sounds just like a seizure.’ That began our difficult journey with epilepsy.

By age 3, Savannah was experiencing multiple types of seizures and had to wear a helmet. By age 4, she began to have seizure clusters that would last for hours without drug intervention. By age 5, delays in her development were becoming apparent, and she was finally diagnosed with LGS. Upon her diagnosis, we were told by doctors that Savannah would never graduate from high school or live to see adulthood. The scenarios that went through my mind were unimaginable. But what I wish I had known at that time was how incredible Savannah was going to be – her fighting spirit, hilarious quips, and sassy attitude. I didn’t anticipate all of the amazing people our family would meet along the way, including other caregivers going through the same experiences. 

Over the years, I've now witnessed Savannah endure more than 40,000 seizures, a staggering figure even for a medical professional, let alone a mother. Every morning, I check that Savannah is breathing, a routine that underscores that constant feeling of being on guard 24/7 to maintain her safety. Even with meticulous care, this sense of caution never fades.

During our family’s early years experiencing seizures and utter confusion, I immersed myself in learning all I could about LGS, eventually pursuing higher education to understand the research I was reading. As my love for science grew, I juggled late nights of studying and raising my children, and my classmates became a new support system. After 12 challenging years, I earned my Ph.D. in neurobiology, driven by the hope of improving the lives of children like Savannah. 

My own research eventually uncovered the mechanism behind Savannah's epilepsy, allowing me to partner with our doctor to find a treatment that works for her. Now, Savannah is 30 years old and sassier than ever – I often think that she is one of the “lucky” ones. Yet, the transition to adulthood has been a struggle, especially knowing that currently, no family support programs exist for long-term adult care planning or for the transfer of primary care for those living with rare epilepsy syndromes. There is a significant need for support to facilitate future medical, legal, and financial planning, ensuring caregivers have access to support at every step of the journey. In fact, data from a survey, conducted by ��ֳ� of parents and adult siblings of people with rare epilepsy syndromes, found that only 22% believed they had adequate access to long-term care planning information. They shared frustration in finding support and resources and concern about how their loved ones will be supported as they transition into adulthood.

The frustrations felt by the community drive the work we do at the LGS Foundation. Alongside the efforts of companies like ��ֳ�, we now have new ways to connect as a community, raising awareness about the challenges we face as caregivers each day and offering one another support.

In 2018, ��ֳ� partnered with the LGS Foundation and Dravet Syndrome Foundation to compile the Siblings Voices Survey to assess how children adapt to growing up with siblings living with a rare epilepsy syndrome. Grounded in this community insight, the VIP Siblings Project supports people who have a brother or sister with a rare epilepsy syndrome. These siblings are often unselfish, dedicated, and able to see past the challenges, exhibiting understanding and compassion beyond their years. The education provided by the program helps families not only make better informed decisions about their loved ones’ care, but also have more space to care for themselves.

Having the opportunity to collaborate with organizations like ��ֳ� allows us to expand our mission at the LGS Foundation even further, surrounding patients and caregivers through every step of their care journey, including the transition into adulthood, and helping them navigate the moments in their lives that matter most. Ultimately, it is those moments of vulnerability, fear, and uncertainty where families like ours who experience seizures need this support.

While it has been devastating to watch what LGS has done to my child, as both a mom and a neuroscientist, I understand, in a profound way, that we must never give up the fight to stop seizures – and we never will. The real war on LGS is being waged at home, in the trenches as I call it, by each family.

To other caregivers, know you are not alone. Know that it is okay to have hope. It is hope that drives my family and my work at the LGS Foundation. With partners like ��ֳ�, we are one step closer to offering real solutions for LGS families as together, as we drive forward our relentless pursuit of a seizure-free life.

Tracy’s story was recently shared on Today.com.

Find out more about LGS here

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Sudden Unexpected Death in Epilepsy: our commitment to supporting families and patients

Vanco Vlastimil (��ֳ� S.A.) — Wed, 18 Oct 2023 07:00:59 +0000

Sudden Unexpected Death in Epilepsy: our commitment to supporting families and patients

Judith Luker, Patient Engagement, Epilepsy and Rare Syndromes

Vanco Vlastimi… Wed 18/10/2023 - 09:00

SUDEP, or Sudden Unexpected Death in Epilepsy, refers to the unexplained death of a person with epilepsy who is otherwise healthy. It is a leading cause of epilepsy-related deaths. SUDEP Action Day, created by the charity SUDEP Action in 2014 and observed each October, plays a crucial role in raising awareness about this silent but deadly consequence of epilepsy bringing organisations worldwide together to help increase awareness of SUDEP and empower people with epilepsy.

While no one knows exactly what the mechanisms are when SUDEP occurs, there are certain factors that increase the risk of occurrence, such as the frequency of generalized tonic-clonic seizure (GTCS) and failure to adequately control treatment-resistant seizures. Research has shown that controlling seizures may lower the chance of SUDEP.

Although significant progress has been made during the past year in the understanding of SUDEP mechanisms and investigation of numerous potential biomarkers, we are still missing reliable predictors of SUDEP beyond the well-established clinical risk factors. To patients and families, SUDEP is an unthinkable aspect of living with epilepsy, and this is why we are committed to supporting the patient community on SUDEP-related issues in every way we can. We are investing in SUDEP research and are working to contribute further to the published literature in this area. We are also collaborating with other organizations on projects relevant to SUDEP; our work with Neurava, a medical device start-up, is a good example. Neurava is working on translating the discovery of a potential mechanism of action behind SUDEP into a first-of-its-kind smart wearable device capable of identifying and alerting for seizures and impending SUDEP risk - a device with the potential to save lives, and which we are proud to support in its development.

In another recent collaboration, ��ֳ� participated in an advisory workgroup with the Child Neurology Foundation in the US, along with 20 other organizations, on its Clinical Toolkit for Preventing Epilepsy Deaths. This toolkit includes resources raising awareness of potential causes of death among people with epilepsy to help individuals take preventative measures to mitigate the risk, as it is known that many epilepsy deaths could be prevented. The goal of the toolkit is to educate patients and healthcare professionals about epilepsy and address epilepsy mortality risk factors. On the Preventing Epilepsy Deaths toolkit website physicians can find materials to help them discuss preventative measures with their patients.

This year’s theme for SUDEP Action Day is #MySafetyMatters – highlighting how important it is that the epilepsy community takes action to help people with epilepsy to live as safely as possible. Putting the patient’s voice first is an important part of working at ��ֳ� and central to my role. Working closely with patients and patient organisations to understand their feelings about how the SUDEP conversation should happen, has deepened my understanding of this incredibly important and sensitive topic. At ��ֳ� we have a responsibility to do as much as we can to advance the conversation around SUDEP research, preventative care, and the needs of families.

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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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Our bold ambition for severe neurological diseases

Vanco Vlastimil (��ֳ� S.A.) — Fri, 29 Sep 2023 14:15:27 +0000

Our bold ambition for severe neurological diseases

Nick Francis, Global Communications & Company Reputation

Vanco Vlastimi… Fri 29/09/2023 - 16:15

It’s more than twenty years after the term “the decade of the brain” was first coined; a period that saw huge advances in neuroimaging, genomics, understanding of neuroplasticity and an appreciation of the molecular mechanisms underpinning neurodegenerative diseases like Alzheimer’s and Parkinson’s.

Today, that enthusiasm for neurology remains a cornerstone of our work at ��ֳ�.

Each day, we are gaining a greater understanding of the science behind the brain, and the pathobiology of many of the neurological conditions which still evade cure.

This increased understanding allows us to continue to innovate to bring differentiated solutions to people living with severe neurological diseases.

We prioritize research that goes where patient insight and science leads us, moving our portfolio towards differentiated solutions with higher predictability of response for each patient.

By developing differentiated solutions for specific patient populations, we are taking tangible steps to move from symptomatic treatment to disease modification, and possibly towards a curative approach for certain conditions.

We continue to lead in epilepsy, and have an increasing focus on more targeted, precision-based interventions that can improve the lives of specific populations with rare syndromes that historically have been difficult to treat. We’ve also moved into rarer neuro-muscular conditions such as myasthenia gravis, where there is a significant unmet need for treatment options and care.

Most importantly, is how advances in science are allowing us to get ever closer to the goal of addressing neurodegeneration by halting the progression of very severe diseases like Alzheimer's or Parkinson's, which are lifelong and evolve and worsen over time.

We believe disease modification is the next frontier in neurology, it is at the center of ��ֳ�’s strategy in research and development, and this is an area we will see a significant advance in over the next decade.

A key tool facilitating advancement in neurological research is Artificial Intelligence (AI), which is constantly improving its interpretation of scientific language and data processing. At ��ֳ�, AI acts as a super assistant to our scientists, enhancing our ability to discover medicines faster – helping our scientists to better understand certain processes, speeding up our ability to screen molecules, and therefore shortening the innovation cycle by enhancing our ability to digest large volumes of data.

As we continue to innovate, the promise of a cure for debilitating diseases such as Alzheimer’s and Parkinson’s, drives us on. A deepening understanding of our patients’ experiences brings us ever closer to serving an unmet need for millions, giving those with severe neurological diseases, the best life possible.

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��ֳ� welcomes the epilepsy treatment updates to the WHO Model List of Essential Medicines

Vanco Vlastimil (��ֳ� S.A.) — Mon, 31 Jul 2023 09:19:03 +0000

��ֳ� welcomes the epilepsy treatment updates to the WHO Model List of Essential Medicines

Michael Fürst, Social Business, ��ֳ�

Vanco Vlastimi… Mon 31/07/2023 - 11:19

At ��ֳ�, we believe everyone deserves to live the best life that they can – as free as possible from the challenges and uncertainty of disease. We develop solutions across neurology, immunology, and other areas where our expertise, innovation, and ambition align with the needs of those who live with severe diseases. ��ֳ� has a rich heritage in epilepsy, with over 30 years of experience in the research, development and delivery of antiseizure medications. As a company with a long-term commitment to epilepsy research, we want to contribute to solutions that address unmet medical needs of all patients living with epilepsy.

��ֳ� welcomes the inclusion of levetiracetam in the World Health Organization Model List of Essential Medicines (WHO EML), which we hope will result in an opportunity to widen the treatment options for people living with epileptic seizures around the world. To express our support for levetiracetam’s inclusion on the WHO Essential Medicines List, ��ֳ� provided a positive letter to the WHO Secretariat of the Expert Committee on the Selection and Use of Essential Medicines, signed by our CEO Jean-Christophe Tellier and Chief Medical Officer Iris Loew-Friedrich.

We are committed to improving access to quality care and medicines for people with epilepsy. Nearly 80% of people with epilepsy live in low- and middle-income countries (LMIC), where treatment gaps exceed 75% in most low-income countries and 50% in most middle-income countries, despite the effectiveness of available antiseizure medicines. To read more about our commitment, visit our Integrated Annual Report.

The World Health Organization (WHO) Model List of Essential Medicines

Essential medicines are those that satisfy the priority health care needs of a population. They are selected with due regard to disease prevalence and public health relevance, evidence of efficacy and safety and comparative cost-effectiveness. They are intended to be available in functioning health systems at all times, in appropriate dosage forms, of assured quality and at prices individuals and health systems can afford.

The WHO Model List of Essential Medicines is intended as a guide for countries or regional authorities to adopt or adapt in accordance with local priorities and treatment guidelines for the development and updating of national essential medicines lists. Selection of a limited number of medicines as essential, taking into consideration national disease burden and clinical need, can lead to improved access through streamlined procurement and distribution of quality-assured medicines, support more rational or appropriate prescribing and use and lower costs for both health care systems and for patients.

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AAN 2023: A unique opportunity to connect with the Global Neurology Community

Vanco Vlastimil (��ֳ� S.A.) — Fri, 21 Apr 2023 11:45:47 +0000

AAN 2023: A unique opportunity to connect with the Global Neurology Community

Donatello Crocetta, ��ֳ� Rare Disease Organization

Vanco Vlastimi… Fri 21/04/2023 - 13:45

Medical meetings and congresses like the American Academy of Neurology Annual Meeting provide a unique forum for the latest advances in research, medicine, and clinical practice to be, shared, presented, and discussed.

The massively varied progamme of scientific sessions, posters and symposia are an important way for delegates to stay up-to-date on the latest developments in the field. Because of the cross-functional and cross-cultural composition of attendees from around the world, there are often lively discussions and debates which can lead to new and unique perspectives being shared. These viewpoints can stimulate new approaches, important advances and, potentially, exciting improvements in patient care and treatment outcomes. They can also be a genesis for new collaborations and partnerships alongside opportunities for enriching professional development.

This spirit of collaboration, and a willingness to embrace perspectives outside our own experience, is crucial for advancing research and improving patient care. At ��ֳ�, we believe strongly that the best way to make a difference is to be part of the discussion. By working together as one community, our voice can be immeasurably amplified. Indeed, I believe by embracing this partnership approach we can make significant strides in better understanding complex neurological conditions, identifying new approaches to delivering improved patient outcomes.

Because we are focused on delivering differentiated patient value across multiple neurological therapy areas, the AAN meeting is a natural environment for ��ֳ� to connect with and learn from delegates from around world. We are united in our passion to better understand disease mechanisms which underpin the complex neurological diseases faced by patients. These insights help us to identify and develop new drug targets and therapies, and design clinical trials which resonate with the real-world outcomes patients value with the aim of improving patients' quality of life.

With our proud heritage in neurology, we’re excited to be sharing a diverse scientific programme at this year’s AAN congress, as we continue to pioneer new research into debilitating neurological conditions such as epilepsy and Parkinson’s disease, with the goal of improving patient outcomes and experiences. We’re also focusing our efforts toward communities living with rare diseases such as myasthenia gravis, autoimmune encephalitis and rare forms of epilepsy such as Dravet syndrome and Lennox-Gastaut syndrome. While individual rare diseases are uncommon, collectively they affect a significant portion of the population.

By taking a multi-faceted approach that focuses on increasing awareness and education, supporting patient advocacy, promoting research and innovation, improving access to care, and facilitating collaboration, we can work towards improving care for patients with rare diseases. Which is why, I’m so excited about the opportunity to connect with the community at this year’s AAN meeting!

Of course, there is still much work to be done. However, progress being made in rare disease research is inspiring, and continues to progress at pace. With continued research and open collaboration there is reason to believe both rare and more common diseases can be better understood and more effectively treated in the future.

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AAN Neurology American Academy of Neurology Rare Diseases epilepsy

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Neurology

Moms Really Can Do It All - Meet Tracy: a Mom, Caregiver, Neuroscientist, and Advocate in the Rare Disease Community

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Sudden Unexpected Death in Epilepsy: our commitment to supporting families and patients

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

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Our bold ambition for severe neurological diseases

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��ֳ� welcomes the epilepsy treatment updates to the WHO Model List of Essential Medicines

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AAN 2023: A unique opportunity to connect with the Global Neurology Community

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Neurology

Moms Really Can Do It All - Meet Tracy: a Mom, Caregiver, Neuroscientist, and Advocate in the Rare Disease Community

Leave a Comment

Sudden Unexpected Death in Epilepsy: our commitment to supporting families and patients

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

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Our bold ambition for severe neurological diseases

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������ֳ� welcomes the epilepsy treatment updates to the WHO Model List of Essential Medicines

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AAN 2023: A unique opportunity to connect with the Global Neurology Community

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��ֳ� welcomes the epilepsy treatment updates to the WHO Model List of Essential Medicines