Ulysses Neuro Podcast

If you don’t speak Portuguese, take the opportunity to listen to the rest of our podcasts, where we always hear from patients and caregivers to understand their lived experiences, and amplify their voices.

Portuguese:

Transtorno de Deficiência de CDKL5 (CDD) é um raro distúrbio neurodesenvolvimental causado por mutações no gene CDKL5, resultando em convulsões, deficiência intelectual, e prejuízos motores e sociais. Como os membros das comunidades de doenças raras conhecem muito bem, o CDKL5 é um transtorno internacional, com a população de pacientes espalhada por todo o mundo. Diante disso, produzimos uma série de podcasts sobre CDKL5, cada um em um idioma diferente, para destacar as vozes da comunidade internacional de CDKL5.

Neste episódio, em português (brasileiro), nossa gerente de escritório, Laís Oliveira Lima, pergunta a três famílias brasileiras sobre suas experiências vivendo com o CDD. É uma ótima oportunidade para ouvir experiências diversas de quem vive com o mesmo transtorno, uma vez que as famílias moram em diferentes áreas do país.

Se você não fala português, aproveite a oportunidade para ouvir o restante de nossos podcasts, onde sempre ouvimos pacientes e cuidadores para entender suas experiências vividas e amplificar suas vozes.

In this new episode of the Ulysses Neuro Podcast we spoke with Audrey, Maria and Matty, to give us an insight into what it is like as a parent living with children affected by PANS and PANDAS.

PANS, standing for Pediatric Acute-Onset Neuropsychiatric Syndrome is an umbrella term that covers a group of disorders, one of which is PANDAS, standing for Paediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections. 

PANS and PANDAS are complex system wide conditions that are characterised by the sudden, ‘overnight’ onset of neuropsychiatric symptoms in children, which may include obsessive-compulsive disorder, tics, anxiety, food restriction, aggression and cognitive changes including decline in academic ability. Physical symptoms like sleep disturbances and urinary problems may also be present. 

PANS and PANDAS are little known and poorly treated, and there is currently no cure and a lack of research on the disorders and the associated symptoms. The diagnostic process is complex, and very often the disease is overlooked by the medical community resulting in a very long and complicated journey for the families affected.

Thank you to Audrey, Maria and Matty for sharing their experience with us. 

Below are some resources for further information and support on PANS/PANDAS, along with those that have been mentioned throughout the podcast.

The statement was updated in 2023 to highlight that all children presenting with acute onset neuropsychiatric symptoms should receive a full medical evaluation. It signposts clinicians to existing international peer-reviewed treatment guidelines. https://bpna.org.uk/?page=pans-pandas

In this episode, hosts Ciara and Clare speak with Crystal McLoughlin to discuss life with her 3 year old son Tomás, who has Angelman Syndrome. 

Angelman Syndrome is a rare genetic disorder affecting approximately one in every fifteen thousand births. Angelman Syndrome is caused by one of several different types of disruptions to a single gene, UBE3A, situated on chromosome 15, in the region 11-13 of the ‘q’ arm – referred to as 15q11-13. The majority of Angelman Syndrome cases result from a deletion of a segment of the maternal chromosome 15 that contains UBE3A. However, Angelman syndrome can also arise from a mutation in the UBE3A gene, or uniparental disomy, which is when two paternal copies of the gene are inherited from two paternal copies of chromosome 15. The core symptoms of Angelman syndrome include a unique happy demeanour, with frequent laughing and smiling, seizures, and severe developmental delays, for example having little to no speech. Other symptoms include balance and movement problems, abnormal sleep patterns, and feeding problems, particularly during infancy due to difficulties with coordinating sucking and swallowing. 

For more information on Angelman Syndrome and the supports available, please visit the following websites:

http://www.angelman.ie/

https://angelmanireland.com/

https://www.angelmanuk.org/

https://www.angelman.org/

https://www.rareireland.ie/

https://www.angelmanclinicaltrials.com/

https://cureangelman.org/

https://cureangelman.org.uk/

Black History Month is an annual observance to remember and recognise important people and events in the history of the African diaspora. It’s celebrated in February in the US and Canada, while in Ireland and the UK, it is celebrated in October. As the father of Black History, Carter Woodson, said, “If a race has no history, it has no worthwhile tradition, it becomes a negligible factor in the thought of the world, and it stands in danger of being exterminated”. We encourage everyone to take the time this month to actively participate by learning about the history and culture of Black people globally, and listening to their experiences. These actions should not just be limited to one month of the year, but should be common practice all year round, helping to promote equality among people of all races.

In this episode we speak to two members of the Black African/Black Irish community, Dr. Immanuel Darkwa and Ms Gladys Otono Atsenokhai.

Dr. Immanuel Darkwa is an experienced start-up founder, lecturer, and researcher at Trinity College Dublin. His research interests lie in innovation models, entrepreneurship, innovation management, and innovation ecosystems.

Gladys Otono Atsenokhai, best known as MC Shakara, is an award-winning events host, comedian and mental health advocate. She also holds a Graduate certificate in Autism Studies and in 2022, won the Sheroes Global Founders Award for using her Platform “Navigating Autism” to help families of autistic individuals and their caregivers understand and navigate autism using simple strategies and her experience.

CDKL5 Deficiency Disorder (CDD) is a rare neurodevelopmental disorder caused by mutations in the CDKL5 gene, resulting in seizures, intellectual disability, motor and social impairments. As members of rare disease communities know all too well, CDD is an international disorder, with the patient population scattered all over the world. In light of this, we have produced a series of CDKL5 podcasts, each in a different language, to highlight the voices of the international CDD community.

In this special Hindi episode, our host Disha speaks with Jainu Jogani who is the chairperson of CDKL-5 Alliance and father of Reyna who has CDKL-5 deficiency disorder.

CDKL5 Deficiency Disorder (CDD) is a rare neurodevelopmental disorder caused by mutations in the CDKL5 gene, resulting in seizures, intellectual disability, motor and social impairments. As members of rare disease communities know all too well, CDD is an international disorder, with the patient population scattered all over the world. In light of this, we have produced a series of CDKL5 podcasts, each in a different language, to highlight the voices of the international CDD community.

Il disturbo da deficienza di CDKL5 (CDD) è una malattia neurologica genetica rara causata da mutazioni nel gene CDKL5 che provoca convulsioni, disabilità intellettive, disabilità motorie e difficoltà sociali. Come i membri delle comunità di malattie rare sanno fin troppo bene, con popolazioni di pazienti sparse in tutto il mondo le comunità attraversano i confini; anche la CDD, quindi, è una malattia internazionale, con pazienti a volte molto lontani fisicamente, ma uniti dalle esperienze legate alla loro condizione. Alla luce di ciò, abbiamo prodotto una serie di podcast CDKL5, ciascuno in una lingua diversa, per amplificare le voci della comunità CDD internazionale.

In this second episode, in Italian, our CEO Massimiliano Bianchi, ourclinical lead Carolina De Pasquale, and our Research Intern and PhD Candidate Fabiana Traini, all accompanied by Barbara Palladini, the general manager of CDKL5 Italia Onlus, ask two families from Italy about their experiences living with Cdkl5 deficiency disorder. It is a fantastic opportunity to hear diverse experiences of living with the same disorder, as they live in different areas in the country.

In questo secondo episodio, in italiano, il nostro CEO Massimiliano Bianchi, la clinical lead Carolina De Pasquale e la nostra ricercatrice e dottoranda Fabiana Traini, affiancati da Barbara Palladini, manager dell'associazione CDKL5 Italia, si fanno raccontare da due famiglie italiane come il disturbo da deficienza di Cdkl5 plasma le loro vite. È una fantastica opportunità per ascoltare esperienze di vita che pur avendo a che fare con lo stesso disturbo sono diverse, poiché vivono in diverse aree del paese.

CDKL5 Deficiency Disorder (CDD) is a rare neurodevelopmental disorder caused by mutations in the CDKL5 gene, resulting in seizures, intellectual disability, motor and social impairments. As members of rare disease communities know all too well, CDD is an international disorder, with the patient population scattered all over the world. In light of this, we have produced a series of CDKL5 podcasts, each in a different language, to highlight the voices of the international CDD community.

El trastorno por deficiencia de CDKL5 (CDD) es un trastorno del neurodesarrollo poco frecuente causado por mutaciones en el gen CDKL5, que provoca convulsiones, discapacidad intelectual y deficiencias motoras y sociales. Como bien saben los miembros de las comunidades de enfermedades raras,  CDD es un trastorno internacional, con una población de pacientes dispersa alrededor del mundo. A la luz de esto, hemos producido una serie de podcasts , cada uno en un idioma diferente, para resaltar las voces de la comunidad  CDKL5 internacional.

En este episodio especial en español, nuestras anfitrionas Johana y Fabiana reciben a Sandra Lopez de España y Lisbet Vargas de Colombia, cuyas hijas Urgell y Ruth Sofia padecen  el trastorno por deficiencia de CDKL5. Ellas comparten sus historias personales como parientes de niños que viven con una enfermedad rara, los diferentes desafíos que enfrentan en sus países, así como sus roles como defensores de esta condición en países de habla hispana.

In this special Spanish episode, our hosts Johana and Fabiana are joined by Sandra Lopez from Spain and Lisbet Vargas from Colombia, whose daughters Urgell and Ruth Sofia have CDKL5 deficiency disorder.  They share their personal stories as parents of children living with a rare disease, the different challenges they face in their countries, as well as their roles as advocates for this condition in Spanish-speaking countries.

The Ulysses Neuro Podcast returns to mark Niemann-Pick Disease Awareness Month and Global Niemann-Pick Disease Awareness Day on October 19.

Our hosts Mary and Carol are joined by Samantha Berns, who has Niemann-Pick Type C (NPC), a subtype of Niemann-Pick Disease, and her mother Chris Berns. NPC is an ultra rare, progressive genetic disease that affects about 1 per million people. It causes lipids to accumulate in the brain, as well as some visceral organs, causing damage. NPC is highly variable in terms of symptomatology and age of onset: it can range from a fatal disorder within the first few months of life to a late onset, chronic, progressive disorder that might not be diagnosed until adulthood. In general, symptoms include a variety of neurological manifestations - with hypotonia and developmental delay being most common in younger children and apparent early-onset dementia or psychiatric manifestations in adulthood. Samantha and Chris share their story of living with NPC, as both a patient and parent. They talk us through the diagnosis process, the daily experience, and their roles as advocates.

For more information on NPC, supports, and Niemann-Pick Disease Awareness events, please visit the following websites:

https://nnpdf.org/resources/niemann-pick-awareness-month/#:~:text=October%20is%20Niemann%2DPick%20Awareness%20Month!&text=Support%20One%20Another%20and%20Support,Pick%20Disease%20in%20your%20community. (US)

https://nnpdf.org/resources/upcoming-events/ (US)

http://www.parseghian.org/ (US)

https://www.npuk.org/ (UK)

https://www.inpda.org/ (global)

Rare Disease Day is observed on the last day of February each year to raise the public's awareness of rare diseases. There are over 6,000 rare diseases worldwide, and approximately 4% of the global population is affected by a rare disorder. This implies that rare diseases are indeed individually rare, but collectively common.

This month, we focus on the rare genetic disorder Prader-Willi Syndrome, which is caused by abnormalities on chromosome 15. Some of the core symptoms include an insatiable appetite, low muscle tone and behavioural and developmental problems.

In this episode, we speak with Emma and Rory Tierney, whose son, Henry, has Prader-Willi Syndrome. They share their personal story as parents of a child living with a rare disease. In the second half of the podcast, we hear from Gary Brennan, the National Development Manager for Prader-Willi Syndrome Association Ireland (PWSAI), as he shares his knowledge on the supports available for those with Prader-Willi Syndrome and informs us of exciting research in the field.

December is a month that can be difficult for people with mental health issues and a history of trauma, and it is the most dangerous time of the year for drug- and alcohol-related accidents. In this episode of Ulysses Neuro Podcast we talk about addiciton and substance abuse, to help raise awareness on this disorder and reduce the stigma surrounding it: our guest Brendan, who has been battling addiction for 20 years, talks about his struggles and experiences with support structures. Addiction is a chronic brain disorder that manifests itself as a dependency on substances or behaviour. We discuss the complex nature of addiction, the overlap with mental health issues, the treatments available in Ireland and the stigma surrounding it.