The Batten Disease Problem StatementFor decades the Batten Disease has been a very fatal, inherited, and rare brain disorder to many people and children across the world. Early symptoms of Batten Disease are vision problems and seizures but as the years progress the disease begins to pick up more deadly symptoms. Because of the disease’s deadliness and rarity, we have written and gathered facts and information about this disease in order to learn more about it.
Furthermore, because of the disease’s incapability of being cured we have made some research on treatment in order to find ways to help control and reduce the symptoms of the disease.HistoryBatten disease was first discovered in 1903 by a male British pediatrician, Frederick Batten. Ever since its discovery it has been the most common form of a group of disorders called neuronal ceroid lipofuscinosis (NLC). These diseases are incredibly rare, occurring in 2 to 4 of every 100,000 births in the United States of America.
Somehow, these disorders appear to be more common in places like Finland, Sweden, and other parts of northern Europe. How Does It Affect A PersonThe Batten disease can be contained in many different ways and is known to affect the occipital lobe. Because of this children are known to have increasingly blurred vision. Also to this date, eight genes have been linked to the varying forms of NCL. The known NCL genes are: CLN, CLN 2, CLN3, CLN 4, CLN 5, CLN 6, MFSD 8, CLN8, CTSD. These are known to cause mutations, cause changes to your body cells, and encode proteins to the body which can cause Batten disease. Moreover,children and adults with Batten disease have unfortunately inherited genetic material from their parents.
A child born to parents, who both carry the recessive mutation in their gene, has a 25% chance of inheriting this disease. Because of this The National Institute of Neurological Disorders and Stroke have been conducting research and support studies to speed up the search for the Batten disease cure. Cure Sadly, no specific treatment is known that can heal the symptoms of Batten disease. Although the cure hasn’t been discovered yet, there are some ways that can help with this disease.
Many cases show that seizures can sometimes be reduced with anticonvulsant drugs. Also, some reports have shown that children consuming vitamins C and E have helped slow down their disability but however, did not prevent the fatal outcome. Furthermore, supports and encouragement can also help families cope with the profound disorder caused by the Batten disease. Holistic support for parents, siblings and family members is extremely important to the person who has the disease. What Research Is Being DoneDespite the fact that there is no healing for this disease, many research and information is being gathered in order to perceive the cure. Research scientists are working with NCL animal models in order to improve understanding and treatment of these disorders. These include naturally occuring sheep and dog models, and genetically engineered mouse models.
Additionally, advances in human cell research will assist the translation of findings in the model organisms to individuals with NCL disorders. Also, science teams are working forward to developing therapies and identifying therapy targets for NCL. Many of these therapies include gene therapy, enzyme replacement therapy, stem cell therapy, and many others. On top of that, many charities, foundations, and voluntary organizations are raising money in order to speed up the investigation. Hopefully with all the research, technology, and help that comes from different types of foundations and institutions we get a brand new cure for this terrifying disease.