Topics chosen by Worth School pupils for the 2014 Worth Essay competition were as varied as you could hope for. One of the winner’s Madeleine C in Year 11 had read an article about the impact of rare disease on families several years earlier in a local newspaper. The press piece had stayed in her mind and she decided to research the subject in more depth for her essay submission…
A rare disease is a life threatening or chronically debilitating disease that affects ‘five people or fewer in 10,000’. This means that more than three million people in the UK have a rare disease. These diseases are often complex and so effective treatment requires specialist, united efforts. Therefore, rare diseases represent a significant cause of illness and pose a real challenge to health care professionals. I have chosen in this essay to focus on children suffering with rare diseases.
One local example of a rare disease affects two-year-old Sullivan Smith – congenital fibre type disproportion, a rare muscle-wasting condition. His family are doing all they can to facilitate his needs, including making the house accessible for a wheelchair and feeding him through a tube. This is a good example of the ripple effect of rare disease, encompassing the sufferer, to the wider family and community.
Eighty per cent of rare diseases are genetic, and occur when both parents are carriers (a carrier is a person who carries one healthy copy of the gene and one faulty one) for the same condition and they both pass on a faulty gene to the child. Postnatal screening helps to diagnose a range of conditions, including some rare ones.
The most well-known screening programme is new-born blood spot screening. It tests babies for a range of conditions including genetic disorders, phenylketonuria and medium-chain acyl-CoA dehydrogenase deficiency.
Extra conditions are also starting to be tested for, including isovaleric acidaemia. “Early, effective screening means that parents can be immediately referred to specialist centres for diagnosis and onward management”, including surgery, nutrition or medication; reducing the impact of the disease on the child’s adult life.
This is positive news for children and their families, but not all rare diseases can be tested for, and they can often be disregarded or misdiagnosed as more common illnesses. Knowing the signs of rare diseases can help early treatment and prevent serious repercussions. For example, Marfan syndrome, a genetic disorder that affects the body’s connective tissue, has symptoms including aortic enlargement, which can get worse over time. This makes it “very important for people with Marfan syndrome and related disorders to receive accurate, early diagnosis and treatment”.
From my reading, it’s clear that children with rare diseases take longer to receive an accurate and helpful diagnosis. Around 4 in 10 people with rare diseases say they found it hard to get a diagnosis. This may have been due to a lack of family history of the disease or similar symptoms to more common diseases. For example, Anne Morris, whose son has MCAD deficiency (caused by mutations in a gene involved in fat metabolism), was unaware that she was a carrier of the faulty gene. Her son’s treatment can be as simple as giving him glucose powder, but it took a long time for him to be diagnosed at birth. This could have been fatal because babies born with the disease cannot release energy from fat by normal methods when their sugar stores run out. “An infant with MCAD can simply sleep beyond the amount of sugar in his or her body, without an efficient way of converting fat into energy to keep the brain alive.”
Scientific research would help to shed light onto rare diseases but compared with more common diseases, little research goes on. For example, there are hundreds of inheritable diseases but only 4% of the population is born with a genetic disease caused by a mutation in a single gene. Therefore, because the number of people affected is small, less research goes into them, meaning there are fewer treatments. Research is vital for effective treatment of the diseases: for example, research for the disease PAH (Pulmonary arterial hypertension) will make it easier to match patients with suitable drugs.
To read the second half of Madeleine’s essay where she describes rare disease research click Worth School Essay Winner writes about rare diseases.
Photo courtesy of Taki Steve.