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Living with Batten Disease: One Family’s Story

This is the story of our family, Norman, Pam and, in particular, our daughter Amy who sadly has Batten disease. Amy is 29 years old and has a rare variant adult form of the disease.

Amy’s early years were completely normal and she played a full part in school life. She enjoyed school and was a good athlete. She played the piano, sang in school choirs and generally loved life, playing several sports. After completing her GCSEs she went on her own to live for the summer holidays with her uncle in Hong Kong. As time passed she became a very proficient hockey player to county level, becoming Games captain at Wakefield Girls’ High School and going to South Africa on tour in 1997.  She was confident with people, loved travelling and being outdoors. We spent many happy times camping abroad and she completed her Duke of Edinburgh award. All in all, her life was progressing normally.

By the end of her time in the sixth form, some aspects of Amy’s learning were perhaps beginning to show difficulties and in the end she did not achieve her expected grades at A Level. She struggled to sequence abstract ideas and her short term memory was not quite as good as it had been.  However we did not think that there was anything really major to worry about but over the months she had a succession of jobs which she could not hold down. In an attempt to get over the disappointment of not going onto higher education, in 2000 she got a job for sixth months in a hockey shop in Melbourne. This proved a difficult time and she came home earlier than planned.  At this time, Amy had no physical signs of what was to come; she was still playing sport and enjoying time with her boyfriend.

Amy’s life then started to change quite a different course and she went through a most difficult time socially and lived away from home. Her behaviour was totally out of character; she had gone from being the placid, caring and loving teenager to being an unpredictable, disorganised and unreliable young woman. By mid 2003 she came home to live and we became increasingly concerned that she needed serious help. She was admitted to the local psychiatric unit and tests diagnosed bipolar hypomania.

Over the next few months Amy’s eyesight deteriorated and she became unstable when walking. Further tests and an unease about the original diagnosis led to more investigations and eventually the devastating diagnosis of a variant of Adult Batten disease came. Since then Amy has continued to deteriorate and she is now totally blind and suffers seizures.  She cannot walk unaided. Some days are good days when we can have short conversations; other days she is in a world of her own and talks to imaginary people. Being able to talk to others who have had the same difficult news is a great help and the BDFA support network is there to help.

As a family we have been blessed with a wonderful daughter who had many fabulous experiences across the world up to the age of 24. Amy has given us all such joy and taught us to enjoy the simple things in life. We are immensely proud of the way she coping with her situation as her world shrinks. She lives at home in part of the house which has been adapted with lift, wet room and electric bed.  Getting these items has been important to us.

We have had much help from the GP and local community teams for which we are very grateful. However good this kind of support is, it is not the same as being able to talk to other families and friends who are living with a Batten’s sufferer. The rarity of Battens means that very few doctors have even seen, nay heard of Batten Disease. Community workers do not have hands on experience of helping with the specific day today matters of caring. However, by linking with people who are going on the same journey, parents can tap into a vast amount of experience and practical help. We, as Amy’s parents, have much learned much over time about getting the best out of the various services available to Amy.

Most Batten sufferers are children, and not as old as Amy, but nevertheless we are willing to share our experiences if parents so wish. We are a part of the BDFA members Family Networking Scheme so please feel free to use the scheme and make contact with us.  (LINK TO FAMILY NETWORKING PAGE).Every day is a challenge but we do know that there is support out there for us as parents in the form of the BDFA so we can be in contact others who know what is involved in caring for a person with Batten disease.