By Natasha MH
As of 2018, there are 7,000 types of rare diseases recognised in the world. In 1983 the Orphan Drug Act was passed in the United States to facilitate drugs for rare diseases that afflicted small number of individuals.
To many who are unfamiliar, drugs are commonly catered to facilitate the majority. This is due to factors such as funding, relevance and demand. But all that is gradually changing as more unknown diseases or, to be politically correct ‘conditions’, are coming to the forefront calling for new attention.
And no one is excluded from this equation. Here’s why.
Like many, I was comfortably living in the dark. My only contact to rare diseases was when epidemic scares cropped up in the media such as the Ebola outbreak in 2014, the H1N1 in 2015 and recently Disease X – H7N9, a strain of avian flu in China that has killed 623 people.
But as a journalist this changed when I met Rachel Siew Suet Li in 2016. Tasked to organise the launching of the trust fund called Rachel Siew Suet Li (RSTF), I was introduced to the world of genetics, mutations and health.
Rachel was three when her mother, Sharon noticed something unusual. Her bone structure and her physical development was becoming awry. A battery of tests relegated her daughter to be mis-diagnosed as having a form of cancer. But a mother knows best, especially when Rachel is an only child.
After much self-initiated research Sharon came across enough literature to direct her to pediatric centers and experts in the UK. It took more than a year – and a battery of more intensive and painful blood work – before mother and daughter knew the exact condition. It wasn’t cancer.
It was Mucopolysaccharidosis. MPS for short, Rachel belonged to a unique category out of nine known as MPS IV A (Morquio syndrome). Two decades back, there were only 5.
Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders. Lysosomes function as the primary digestive units within cells. Enzymes within lysosomes break down or digest particular nutrients, such as certain carbohydrates and fats.
In individuals with MPS disorders, deficiency or malfunction of specific lysosomal enzymes leads to an abnormal accumulation of certain complex carbohydrates (mucopolysaccharides or glycosaminoglycans) in the arteries, skeleton, eyes, joints, ears, skin, and/or teeth.
These accumulations may also be found in the respiratory system, central nervous system, blood, and bone marrow. This accumulation eventually causes progressive damage to cells, tissues, and various organ systems of the body.
But this isn’t an article about Rachel’s condition. It’s about our needed awareness on rare diseases. I started speaking to people asking basic questions. This includes experts, patients, family members with afflicted relatives. And what I discovered was startling.
Most of the genetic disorders we have today do not have a genetic predisposition. They are mutations, created out of bad health caused by environmental factors such as food, exposure to carcinogenic substances such as microwave, plastics, additives, preservatives, genetic modified organisms (GMO), nicotine and stress. The list is exhaustive.
And then there is good old fashion luck. Meaning, you can be born healthy and then one day, something feels wrong, and you’re diagnosed with a rare condition. This will now alter the DNA of your offspring and the rest, as they say, is history.
Too often, we think just because we are born able-bodied and disease-free, we are in the clear. But ignorance is what gets us into trouble. A lot of today’s poor health and diseases are mutated out of a bad mindset and a life series of neglect.
In the last five years alone, 35 percent of new drugs approved were for rare diseases. This reflects new conditions that remain mysteries for us to further study. But here is the paradox: although there are more drugs approved for rare diseases, only five percent of treatments for rare diseases are available.
Here’s what we don’t realise about drugs and treatments (until it happens to us). Drugs are the chemical prescriptions, the medication that, when ingested or administered, affects the physiological effect on the human body. Treatment pertains to the medical care or the manner in which someone behaves towards or deals with someone or something.
Drugs may be approved but not available. For patients like Rachel the enzyme replacement medication alone is expensive per vial (Rachel requires RM1.6 million per annum to stay alive) but treatment is an added concern especially as she proceeds into advance stages of her condition.
Rachel is in her late 20s, the oldest in Malaysia. Even doctors marvel at her survival but that also makes her a case study with many chapters unwritten.
Despite stories of her fight being inspiration, it is also a cautionary tale for us all. Her drug is available, patented overseas, but funding is restricting her access to weekly treatment. And that is the narrative for people with rare diseases which we seldom read about. Hence why there are many fundraisers out there designed to pay medical and treatment bills but to also to get the public involved with the literature.
“Too often we know about it when it’s too late – someone we love or know has a condition,” says Rachel. “Attend a rare disease event and meet the community.” Include, don’t exclude.
“Get tested or do genetic counselling,” she also advises. Sharon,her mum was a carrier of the genetic anomaly which she herself was unaware of. “Falling in love is one thing, but looking at the rate of genetic diseases cropping up especially in the last decade, do genetic testing and find out more about your family and cultural heritage.” For example, certain ethnicity carry a preset of genetic mutation which stems from decades of carriers similar with gender binary.
Hemophilia for instance is carried by the female. A son can be afflicted from the mother while the father cannot pass it to his son because it is linked to the X chromosome. But hemophilia can still afflict anyone, carrier or not, as the result of a spontaneous gene mutation. The percentage is close to 30%.
This is even more pertinent with changing global economics. It was unknown pathogens carried by Christopher Columbus and his crew that wiped out the Taino people and their civilization in the Caribbean island of Hispaniola within 50 years.
Changing the food we eat or through dietary neglect have been touted by experts as a leading cause of genetic mutation. Hence, while silent genetic mutation is a game of Russian Roulette, we can lower our chances by what we can control: taking more care and concern about our health, find out more about our genetic history from family members, do a genealogy research, improve our lifestyle, reduce our stress factors, and work alongside people in the community of rare diseases.
Protect your gene, get empowered while helping to strengthen the public.