A Rare Tumour & Epilepsy
My name is Emma Nott1 and I am Secretary and on the Board of Directors2 of Hope for Hypothalamic Hamartomas3 (Hope for HH) and a mum to three wonderful children – one of whom has a Hypothalamic Hamartoma4 (HH) causing epilepsy. Volunteering for Hope for HH takes me all over the country and to medical conferences around the world, spreading awareness of and encouraging research into HH. I also work full time as a Crown Court Judge based Reading5 in the UK.
- Your Inspiration: Lisa Soeby; Erica Jackson6; Lady Hale7
- Favourite Book: The Cider House Rules8 – by John Irving9
- Favourite Movie: Dirty Rotten Scoundrels10 – Directed by Frank Oz11
- Favourite Music: La Traviata12 – by Giuseppe Verdi13
A Hypothalamic Hamartoma (HH) is a congenital lesion located in the centre of the brain – within the hypothalamus14. Amongst other symptoms, it can cause precocious puberty and/or epilepsy. HH is a rare lesion (it has an estimated prevalence of 1 in 200,00015), however, the epilepsy it primarily generates is equally rare: HH can cause laughing seizures, also known as gelastic epilepsy, and/or crying (dacrystic) seizures16. These seizures are often not recognised as seizures even by experienced health professionals; because HH causes autism, ASD and/or rage behaviours in many patients, gelastic epilepsy can be misdiagnosed as a behavioural manifestation of autism – as was the case with my son Charlie.
Charlie was born in 2001. Because his seizures caused developmental and learning difficulties, they were not diagnosed as seizures until 2009 – previously his paediatricians diagnosed childhood autism and ADHD. It was only when I read up about odd bursts of laughter and discovered gelastic epilepsy that I was able to insist upon an MRI scan17 which revealed his hypothalamic hamartoma. Neither Charlie’s paediatrician nor his neurologist had ever seen one before, and neither could help as to his likely prognosis or treatment options. Through the internet, I found experts who were able to help Charlie and he ultimately underwent Gamma Knife Surgery18 at the Timone Hospital19 in Marseille, France20 in 2009 and again in 2014. While Charlie is not cured, his HH symptoms were considerably alleviated by this surgical intervention.
It was also through the internet that I found other mothers with very similar stories; four of us decided to set up Hope for HH in the US in order to support patients and caregivers, to spread awareness of the condition amongst medical professionals and to promote research into this rare but often devastating condition. Over the last ten years, we have set up a website that provides up-to-date information about HH and about treatment options and expert centres, we have established a Medical Advisory Board 21 that comprises leading experts in HH from all over the world, we have attended and spoken at countless medical conferences to spread awareness amongst medical professionals, we have organised international symposia on HH to promote research and we have funded various research initiatives such as a current collaborative project led by Drs Berkovic and Hildebrand, 22 University of Melbourne, to collect and examine HH tissue, taken from patients whose HH was surgically removed, for potential genetic markers for HH. Look out for an up-coming blog on our website. In 2014, alongside a UK-based HH sufferer and with another mother of an HH sufferer, we established Hope for HH-UK as a charitable trust within the UK – a satellite to and sister of the US-registered organisation.
Hope for HH-UK is a member of EpiCARE 23 and I am privileged to serve with Torie on the Patient Advocacy Group 24 within this European Network of expert centres for the rare and complex epilepsies. Meeting and working with patient advocates from other rare epilepsy organisations has taught me that we all share very many of the symptoms, co-morbidities, and problems caused by whichever specific epilepsy disorder affects us or our loved ones, and that by working together we can achieve the best possible results for the patients and families whose lives are torn apart by the invidious and destructive nature of their epileptic disorder.
Being Interviewed about Hope for HH at the AES 2019 Annual Meeting (25) – American Epilepsy Society(26)
8 November 2019 was Hope for HH’s ten-year anniversary. As we reflect on all that has been achieved in a decade, we recognise the need to do more. More advocacy, more fundraising, more research, more awareness, more education. We will continue to attend conferences and educate doctors. We will continue to work for accurate and early diagnosis followed by appropriate expert treatment for every HH sufferer. We will continue to offer support and empathy to devastated and exhausted families. We will continue to fundraise for important research opportunities and expert conferences. We will continue to host international symposia every three years – symposia that have become respected and renowned among experts in the field of epilepsy and which have created collaborations and partnerships across countries, continents and cultures for the benefit of current and future patients. If you are affected in any way by HH, contact us through our website. We will support you in any way we can.
Hope for HH Volunteers and Medical Advisors in Baltimore at AES 2019 Annual Meeting.
From left to right: Emma Nott (2), Prof Alexis Arzimanoglou (27), Roza Wu, Erica Webster, Kimberly Ranson, Lisa Soeby (2), Prof Helen Cross (28)
Emma Nott
Hope for Hypothalamic Hamartomas
Secretary, Board of Directors
E: enott@hopeforhh.org | W: hopeforhh.org
