My Perspective: Helen Lok

Freelance Article by Helen Lok

Hope In The Horizon – Current Treatment For Batten Disease, And Upcoming Options

As anybody affected by Batten Disease knows, the condition is progressive and degenerative. Sufferers experience a loss of functioning which begins gradually and speeds up incrementally as time goes on. It’s horrific to experience, and perhaps even more horrific to watch happening to someone you love. However, one of the things which humans have proven themselves quite excellent at is perseverance in the face of seemingly insurmountable disease. A lot can be done with modern medicine to prolong the lifespan of a Batten sufferer and reduce the suffering caused by the illness. Furthermore, research is continually throwing up hopeful new lines of investigation. It is to be hoped that, one day – perhaps in the not too distant future – those with Batten Disease may be able to live far longer and more fulfilling lives than are currently available to them.

The Situation Today

Currently, there is no existing treatment which can either cure or reverse Batten Disease. Sufferers are instead treated symptomatically, with each problem tackled as it arises. Seizures, for example, can be brought under a degree of control with anticonvulsants, and the lives of those with the disease can be made more comfortable through the use of aids like wheelchairs when they become needed. Certain kinds of physiotherapy may also be able to slow the loss of basic motor skills. Unfortunately, the prognosis remains poor. Ultimately, sufferers end up confined to their beds, requiring constant nursing, and pass away tragically young. However, our ability to control the symptoms of the disorder does mean that Batten sufferers are living longer now than they used to – always a cause for hope. Modern treatments are not, of course, without their complications. Quite apart from not actually curing the condition, some come with unpleasant side effects. Opioids used to treat pain, for example, are highly addictive and can potentially cause a complex dependency to develop. This dependency is difficult to break and may have significant psychological impacts – but opioids nonetheless remain our best option for reducing the traumatic pain which many Batten disease patients may experience. When it comes to treatment of such a complex condition, many compromises have to be made.

Ongoing Research

This may seem like a grim prospect – but the truth is that, one day, with enough research, we will find a cure for this disease. We’ve beaten far stranger and more seemingly hopeless illnesses. All it needs is a few little breakthroughs to consign Batten to our heap of defeated diseases. This is why organizations like the Beyond Batten Disease Foundation exist – to raise public awareness, to raise funds, and to ensure that the researchers looking for ways to eliminate this disease get the support they need. When we turn to the research labs, the situation certainly seems a little more hopeful. In 2013, NIH researchers identified a chemical which significantly slowed neurodegenerative decline in mice genetically modified to present with Batten disease. Those with Batten Disease lack the gene which tells their bodies to remove certain kinds of cellular waste, which essentially results in such waste ‘clogging’ the body at a molecular level, and accumulating in toxic amounts. This in turn causes the progressive degeneration experienced by those with Batten disease. The new drug essentially helps to prevent this ‘clogging’ process from occurring. While it is not a cure, it could significantly improve the quality of life and extend the lifespan of Batten disease sufferers.

Stem Cell Treatment

Another area of interest is that of stem cell research. The use of stem cells has proven controversial in the past, inciting the ire of conservative Christian groups and many right-wingers. However, stem cells may nonetheless provide a glimmer of hope for many Batten sufferers in the future. StemCells Inc, a stem cell research and development company, are trialling the use of stem cells to combat the disease at its root – by replacing the missing enzyme. In stem cell treatments, neuronal stem cells would be injected into the brains of children with Batten disease, and the generative power of those stem cells would hopefully be able to identify and correct the fault with the brain’s enzyme system. Put very, very simply – stem cells give born humans the ability to grow, repair, or enhance new tissue and/or functions in the same way that babies in the womb are able to. This obviously has great potential for a number of conditions – Batten disease being just one of them. In the meantime, advances in medical and assistive technology means that we can at least make life a lot more comfortable for sufferers while we wait for a cure to come along.

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