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.”

Untitled“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.”

Read More

Charity Profile – Batten Disease Family Association (BDFA)

bdfa (large)

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.

Read More

Newborn Screening Expansion in the UK

The number of diseases newborn babies to be tested for to increase from 5 to 9 following pilot, but still low compared to US and European countries

Save Babies UK, the charity that supports families in the UK and Ireland affected by Krabbe Disease, today welcomes the UK National Screening Committee’s decision to expand newborn screening to nine rare genetic disorders from five, but also calls for swift and concerted action to bring the UK closer in line with its international peers.

Newborn screening is a simple blood test, commonly called the heel prick test, where a spot of blood is taken from a baby’s heel within a few days of birth. From this blood sample, a baby can be screened for many diseases. Early diagnosis and immediate treatment can save a baby’s life or prevent a seriously limiting medical condition.

Following a 12 month pilot programme in Yorkshire and other parts of England between July 2012 and July 2013, the UK National Screening Committee has taken the decision to increase the number of diseases currently screened for from five to nine, although the pilot programme screened for an additional 5.

Although Save Babies UK welcomes the progress made by the UK National Screening Committee, it notes that the UK lags far behind other countries across the world. In the USA, there is a legal requirement to screen for a minimum of 30 diseases, with some US States already testing for between 40 and 60 conditions, while New Zealand screens for 28.

Equally, the UK is far behind many European nations; for example, Austria screens for 29 diseases, closely followed by Iceland, Spain, Portugal, the Netherlands and Germany, all of which screen for more than 20.

While not one of the diseases currently screened for, Krabbe Disease – a rare genetic disorder affecting the nervous system – affects approximately 2 to 3 children each year in the UK. Babies born with Krabbe Disease go undiagnosed at birth until they become unwell and generally die before the age of 2. Once a baby has presented symptoms, the child cannot be successfully treated. Early diagnosis therefore is critical.

Several US States screen for Krabbe Disease as part of their newborn screening programme.

Pat Roberts, Executive Director of Save Babies UK, comments: “While we welcome the fact that the National Screening Committee has decided to almost double the number of diseases that newborn babies will be tested for, getting this far has been very slow.

“At this rate, it will be decades before the UK’s newborn screening programme is in line with the US and many European countries, and in that time, too many children and their families will have to cope with life-limiting illnesses that could be treated or cured if diagnosed sooner.”

Read More

Report of the Scientific Workshop on Krabbe Disease – 2014

 

Pat Roberts from Save Babies UK (SBUK) and who is a member of the UK LSD Collaborative is please to present the final report of the first Krabbe scientific workshop held in the UK in 2013.
The report has valuable content and information, and the board of trustees and the editorial board from SBUK hope you find what is contained of interest. They have accepted feedback from attendees that a further International conference in the UK would be of value and they will review the timing of a conference in light of developments on Krabbe Disease.  In the meantime if you require any further information at any time please do not hesitate to contact us.
To read the report please click here or the icon below to make it appear in a new page.

[gview file=”http://lsdcollaborative.org.uk/wp-content/uploads/2014/06/Report-of-the-Scientific-Workshop-on-Krabbe-Disease.pdf” width=”600px”]

Read More