I first met with this family on the 30th March 2012 after they were referred to me by the Genetics Counsellor. She had been present at the consultation on the 3rd March 2012 when the diagnosis was confirmed that their 14 year old daughter, Ellie-Mae has Juvenile Huntington’s disease; which is a progressive neurological disorder which is life limiting. The whole family, were thrown into chaos, confusion and acute emotional distress as they knew nothing of the disease and what they were going to have to face. Mum, Step Dad and 6 other siblings had to come to terms with what was happening to Ellie-Mae, and that two other children were also 50% at risk of inheriting the disease, and how all their lives were going to dramatically change.
A multi-disciplinary team are now involved; Neuropsychiatric Consultant, Specialist Nurse, Social Worker, Speech and Language Therapist, Occupational Therapist, Teachers, Care Providers, Dietician, Physiotherapist, HDA Regional Care Adviser. Meetings are held regularly to discuss any changes with Ellie-Mae and the best way to manage these and to support her and the family. This has involved major adaptations to the house, and a range of specialist equipment to enable Ellie-Mae to maintain her independence for as long as is possible.
The family are all working together to make life as full and happy as possible and they have been on a holiday to Florida to visit Disney Land which was Ellie-Mae’s choice and funded by the “Make a Wish Foundation”. They have also attended the HDA JHD weekend and Kids Camp weekend.
Life is not easy for this family, but it is amazing the way that are coping, every family member committed to making sure that Ellie-Mae is safe, secure and happy. As for Ellie-Mae, she is amazing, she is beautiful, loving, funny, and at times exasperating, but totally irresistible.