batten

Batten’s Disease Case Study – Jamie

“On the 11th October 2003 I gave birth to my beautiful baby girl Jamie, she seemed so tiny and perfect. Over the next 3 years she developed like every other little girl, she was full of mischief, so strong minded and was into everything, I certainly had my hands full!! In February 2007 Jamie had what I now know to be an absence seizure while at nursery, she was taken to hospital but within hours was up and about, and Doctors thought she may have epilepsy but she was not put on medication straight away just in case it wasn’t. Over the next couple of months Jamie had numerous seizures, she was sent for an EEG that confirmed she had epilepsy, Jamie started on an anticonvulsant medicine; this seemed to work to begin with but then she started to fall over and have more and more vacant spells. I used to joke that Jamie had inherited my clumsiness and was in a world of her own but she slowly started to deteriorate and I knew it was something more. By the time we managed to get an appointment with a consultant in October 2007 Jamie was unable to stand up and was in a state of constant seizure. She was admitted to hospital and her epilepsy medicine was changed, yet again within a few days she was up and about.”

“On the 3rd April 2008 my world fell apart when it was confirmed that my beautiful little girl had Classic Late Infantile Batten Disease. After that I was on a roller coaster of emotions, watching Jamie lose her sight, ability to walk, talk and eat. Having to explain Battens to people you meet and fighting for funding for every bit of equipment she needed was completely heart-breaking, but Jamie showed such strength in her own way that helped me get through it too. One of the worst feelings I had was the feeling of being totally helpless as I couldn’t save my daughter, a cure needs to be found for this cruel disease and raising money and awareness is so very important.”

Batten’s Disease Case Study – Jenson

Jenson Belkevitz is a lively, fun and endearing little boy. At just four and a half years old, he was diagnosed with Late Infantile Battens. Jenson has already gone blind and is starting to experience other symptoms of the disease. Sadly he is unlikely to live to see his teenage years.

Despite his condition, he attends mainstream school in Newport Pagnell where he is a popular member of his class and loves to play with the other children. He adores trains and music and has enjoyed family holidays at holiday parks specially adapted for blind children, with his parents and two older sisters.

One year on from his Batten diagnosis Jenson is still finding amazing ways to adjust to his disabilities but he is a shadow of the boisterous little boy he used to be. These days, although he chatters cheerfully and incessantly, the sounds he utters are mostly baby sounds which only make sense to his close knit family. He has epilepsy – tonic-clonics where he leans or falls to one side. He cannot control his painful shaking legs. He also has Parkinson’s gait which gives him an uneven shuffling walk. And his walking is now severely limited. After a chest his condition has deteriorated so that he can no longer climb up the stairs or walk more than a few steps. He cannot be left alone and because of his constant seizures, his Mum Cheri sleeps with him.

Batten’s Disease Case Study – Laura

Laura was six years old when we first began to think that there might be a problem with her eyesight. She had started to hold her reading books closer to her eyes and was creeping closer to the television. I remember feeling quite upset, thinking that my perfect little girl might need reading glasses. I had no idea what was about to unfold.”

“After a series of medical appointments Laura was misdiagnosed as having a macular dystrophy. This condition purely affects eyesight. It was expected that she would remain partially sighted for decades. By the age of 7 she was completely blind. We were just getting used to blindness when after three years of living with this misdiagnosis, we were given the devastating news that she has Batten Disease. I cannot in such a short letter give an adequate description of how this constant & unrelenting loss of abilities affects everyday life. All I want to do is care for my child, but her needs are constantly changing and she gets more and more dependent. It is absolutely heartbreaking and completely exhausting. I read a quote recently which is this “When a parent dies, you lose your past. When a child dies you are robbed of your future.” I try very hard not to think about the future. The medics have told me what to expect yet I continue to hope that it won’t happen. Thankfully we were not completely alone after receiving Laura’s terrible diagnosis. Within minutes of receiving this devastating news we were handed a Batten Disease Family Association information leaflet about the disease. A major part of the BDFA’s work is in offering emotion support to families. It is hugely valuable to meet with other affected families at BDFA organized family days. This is often the only time you are able to talk and share with people who really understand.”

Charity Profile – Batten Disease Family Association (BDFA)

The Batten Disease Family Association (BDFA) is a national charity which aims to support families, raise awareness and facilitate research into the group of devastating neurodegenerative diseases commonly known as Batten disease. We are based in Hampshire but work with children, young people, families and professionals across the UK.

We were in formed in 1998 with the help of SeeAbility and Contact-a-Family, by a small group of parents of children with Batten disease . We were granted Registered Charity status in 2001 and the work of the charity has continued to go from strength to strength.
The BDFA’s mission is to: Bring light to Batten disease by being the central point of excellence in the UK for raising awareness, supporting affected families, and facilitating research into the disease.

OUR VISION

Our vision is to be the central point of excellence in the UK for the support, guidance and networking of affected families and professionals as well as to increase awareness and facilitate research into all forms of Batten disease. The BDFA offers informed guidance and support as well as actively increasing awareness of the disease and facilitating future research to identify potential therapies and ultimately a cure.

THE NEED

Batten disease is the main paediatric neuro-degenerative disorder in the UK. It affects 1:30,000 births and there are approximately 200 affected children and young adults in the UK. They are born apparently healthy, develop epilepsy, and lose their sight, speech, mental and motor abilities before dying between the ages of 5-30. There are 3 main types of Batten disease, affecting children at different ages depending on which defective gene has been inherited, commonly called Infantile, Late Infantile and Juvenile Batten disease. There is also a congenital form and other variants of the disease. There is continuing research into all types of Batten Disease, but no cure at present.

Having Batten disease profoundly changes the child’s and their family’s life forever. The journey from before diagnosis to death is an ever changing picture of needs as the disease progresses. Unlike other major diseases where there is a huge awareness of the support, therapies and guidance mechanisms needed for the child and family, the families of Batten Children and young people are left isolated and numbed as most professionals do not understand the course of the disease and the needs of the child and their family. It is therefore essential that the families and professionals have a place to turn to for that support and guidance. This is the principle aim of the Batten Disease Family Association so that the affected children, young adults and families do not feel isolated and are given the tools to be able to continue to live life and reach their maximum potential.

The BDFA, as the only UK Batten disease organisation, takes responsibility for guiding the future direction and facilitation of the management of Batten Disease in Health, Education and Social Services. The BDFA also aims to fully promote UK research with a view to finding potential therapies and ultimately a cure into all types of the Disease. The BDFA also aims to work collaboratively to raise awareness, support families, and facilitate research with other Batten Disease organisations worldwide.