Earlier this year M4RD helped Childhood Tumour Trust (CTT) search for a doctor to attend the International Neurofibromatosis Conference in San Francisco this September. The successful applicant would also join CTT’s medical board as a volunteer medical advisor and represent the charity for at least two years.
The M4RD team were excited to help CTT plan and advertise this unique international learning opportunity for one lucky medic. Together, the two charities advertised the opportunity through their websites, social media and M4RD’s e-newsletter. CTT took part in #MysteryDiseaseMonday on M4RD’s Instagram which helped raise awareness of NF1 and their search for medical volunteers. Childhood Tumour Trust were thrilled to receive a number of excellent applications. In fact, they couldn’t decide between two exceptional candidates…so they chose two doctors to attend the conference. The International NF Conference is organised by the US charity, Children’s Tumor Foundation. After the conference the two volunteers will become part of the CTT medical advisory board where they will be able to share their knowledge what they have learned.
We were amazed to have such a positive response! We narrowed the applicants down to two: a paediatric consultant neurologist, Dr Georgina Bird-lieberman, who was already running an NF clinic and a paediatrician, Dr Sarah Joyce, who was at the start of her career. Both would be an asset to CTT and those affected by NF1 and so we decided to send both.Vanessa Martin – Chair of CTT
Dr Georgina Bird-lieberman
Georgina is a Consultant Paediatric Neurologist working in Southampton. She has a specialist interest in Neuro-oncology and is part of the Neuro-oncology multi-disciplinary team, where she regularly sees patients with NF1 related optic pathway gliomas and, slightly less commonly, NF2 related schwannomas. She has a long history of working with various charities for children and young people with a variety of medical and physical disadvantages and is very passionate about promoting self-confidence and independence for these young people. Georgina says she is keen to work with Childhood Tumour Trust and understands the importance of early recognition of this distressing condition. She wishes to support them in raising awareness of the condition both within the community and the medical profession.
Dr Sarah Joyce
Sarah is a doctor in Paediatrics in the Kent Surrey Sussex Deanery. She obtained her MSc and PhD in Genetics and then studied Medicine in London. She kept in touch with her interest in Genetics, setting up the university’s Genetics Society. Sarah says she is honoured to be a member of the medical advisory board of Childhood Tumour Trust. She is looking forward to raising awareness about Neurofibromatosis Type 1 amongst health professionals so that more NF1 diagnoses can be made in the critical early stages of children’s lives.
Vanessa Martin – Chair of CTT
Without the help of Medics4RareDiseases I think we would still be looking for our medics to attend the conference and sit on our Medical Advisory Board
In addition, they have chosen four more doctors to join their medical advisory board: Dr Lizzy Charlton, Dr Srinivasa Rambhatla, Dr Katheryn Ferina all from the UK and Dr Kristina Rath from the USA. They will be vital for enabling CTT to support families affected by Neurofibromatosis Type 1.
Dr Lizzy Charlton
Lizzy is currently a junior doctor in London and completed her degree at Nottingham University. She has a wide range of interests within Medicine and has not yet chosen a specialty, but does have a particular interest in Genetics and Medical Ethics. Lizzy applied to join the CTT medical board because she wants to be an advocate for patients and their families affected by rare diseases.
Dr Srinivasa Rambhatla
Srinivasa is currently an academic foundation year doctor at Brighton & Sussex University Hospital and was a founder of the Birmingham University Rare Disease Society.
He hopes to use his role on the medical advisory board to increase awareness of Neurofibromatosis, become a better advocate for those suffering with this condition, and be better prepared in carrying out research in rare diseases as well as in working within the public sector to aid those with rare diseases. Sri is also a clinical ambassador for M4RD.
Dr Katheryn Ferin
Katheryn is a junior doctor currently training in Paediatrics in London. Before starting medical school she spent time working as a teaching assistant for children with special needs and through this had her first experience with young people with Neurofibromatosis. She is looking forward to helping share more information and education about Neurofibromatosis.
Dr Kristina Rath
Kristina graduated from Yale University with a Bachelor of Science in Mechanical Engineering, earning her medical degree from the University of Pittsburgh Medical School where she was elected to the Alpha Omega Alpha Honor Medical Society. She completed her internship and residency in Obstetrics and Gynecology at Yale-New Haven Hospital and has worked in private practice since 2001 and is a Clinical Instructor in the Department of Obstetrics and Gynecology at Yale University School of Medicine. Kristina has three children, the youngest of whom has NF1.
Childhood Tumour Trust supports children and young people affected by the genetic condition Neurofibromatosis Type 1. They estimate that NF1 is more prevalent than Cystic Fibrosis, Duchenne Muscular Dystrophy and Huntingtons Disease combined, however it still remains poorly understood by the public and health care professionals. CTT was only founded in 2016 but the it is leading the way in improving time to diagnosis. Their work includes championing the recording of cafe au lait marks during the first few years of life and providing a free online CPD module for healthcare professionals. However CTT also stress that there is still a long way to go in improving diagnosis and management for people living with this rare condition.
This collaboration between M4RD and CTT is a brilliant example of how we can work with patient groups to get more doctors involved in rare diseases.Dr Lucy McKay – CEO of M4RD