Rare Disease Day 2022: From Fish Odor Syndrome to Alkaptonuria, here are 7 rare diseases we bet you didnt - Free Press Journal
There was a time when diseases like cancer (some types still are), tuberculosis, chickenpox, and a few others were considered to be rare diseases until treatments, thanks to scientific advancements, were found for them. Today, while there's no dearth of researchers and scientists, there are still some diseases that are waiting for a permanent cure. There's no specific definition for rare diseases. Simply put, it is something that affects a tiny population and in some cases, treatments and cures are limited for them due to less amount of research being done given the nature of these diseases.
Every year, February 28 is celebrated as Rare Disease Day to spread awareness and initiate change for those suffering from such diseases. According to rarediseaseday.org, 300mn people are suffering from rare diseases. And, it is reported that among the 7000 rare diseases identified the world over, 450 have been found in Indians; lack of data makes it difficult for the government to keep a tab of such cases. To aid patients affected by them, the Union government in 2017 came up with a policy, which was revised in 2021. The policy has three objectives: Focusing on early diagnosis, amplifying research and lowering treatment costs. Under the Umbrella Scheme of Rashtriya Arogya Nidhi, financial aid of up to Rs 20 lakh is made available.
While researchers and scientists are putting in tremendous efforts to make more data available on rare diseases and find possible cures for them, here we highlight a few rare diseases which you might not have been aware of:
Angelman Syndrome
This is a genetic neuro-developmental disorder that causes development problems, speech and balance problems, seizures and intellectual disability. They also have jerky movements and laugh frequently. Angelman Syndrome was by Dr Harry Angelman, a British Pediatrician, in 1965. The diagnosis of this syndrome can be made early on especially when children about six to 12 months old start showing development delays. There's no cure for this, the treatment usually involves managing symptoms to enable patients to lead a normal life. This rarely affects one's lifespan unless the existing problem leads to other health ailments.
Fibromyalgia
Fibromyalgia causes musculoskeletal pain — at times so bad that the patient might need hospitalisation. An individual with Fibromyalgia usually is sleep deprived, feels lethargic and experiences mood swings due to the pain. They also suffer from tension headaches, joint disorder, irritable bowel syndrome, anxiety and in some cases depression. According to certain research, painful sensations are magnified and it affects the way the brain and the spinal cord process painful and non-painful signals. There's no cure for this, and the treatments are targeted at controlling the symptoms. It is said women are affected more by Fibromyalgia than men. Popular international singer Lady Gaga has been diagnosed with Fibromyalgia.
Fish Odor Syndrome
Scientifically called Trimethylaminuria (TMAU), this disease leads to a foul, fishy odor that a person might emit. It is generally due to faulty genes inherited from parents. There's no cure, so the focus is on treating symptoms and controlling the odor. Some patients might show symptoms from birth but some start showing them once they hit puberty. This fishy smell can affect breath, sweat, urine and vaginal discharge. The odor might come and go and what makes it worse is sweating, periods, consuming certain foods such as fish, eggs, seafood, and beans. If you are experiencing such a foul smell, please consult a physician.
Maple Syrup Urine Disease
It is an inherited metabolic disorder caused by our body's lack of efficiency in processing certain amino acids. Maple Syrup Urine Disease (MSUD) generally affects infants and derives its name because of the peculiar sweet odor of the infant's urine. Apart from the urine odor, common symptoms seen in infants suffering from MSUD are lethargy, vomiting, poor feeding, delayed development, irregular sleep patterns, maple sugar odor in earwax and sweat apart from urine. There is no cure yet but if left untreated it can cause seizures, coma and in some cases death. Early diagnosis can lead to better management of the disease with a symptom-targeted treatment plan, which is a strict life-long diet regimen.
Menkes Disease
Menkes Disease is also known as Copper Transport Disease, Kinky Hair Disease, Steely Hair Disease, Trichopoliodystrophy, X-linked Copper Deficiency and MD. This is caused by genetic mutation and leads to severe copper deficiency. Menkes Disease affects infants, but in some cases, due to delayed onset, it can show up as a person ages. Symptoms include dry skin, abnormal hair — it's sometimes brittle, has a steel-like look and feel, and is often grey, white or ivory coloured. The infant might also have a yellowish tint to its skin, lower body temperature, developmental delay, osteoporosis. There's no cure and treatment includes injections of copper supplements to the patient.
Alkaptonuria
Alkaptonuria is a rare, inherited disorder, often called 'black urine disease'. It can turn the urine and any part of the body dark. The disorder prevents the individual's body from breaking down two protein building blocks (tyrosine and phenylalanine), which further causes a chemical build-up of homogentisic acid and leads to a host of health problems as the individual ages. Symptoms don't present themselves at birth and are more progressive. Homogentisic acid build-up gradually spreads in tissues across the body, staining the tissue dark in the process. Common symptoms include joint pain, lower back pain and stiffness, cartilage may become brittle and break, dark or reddish-brown earwax, grown or grey spots in eyes, discoloured sweat which can stain clothes, bluish nails, changes in skin colour, breathing difficulties, heart problem, among others. Alkaptonuria is a life-long condition with no cure or specific treatment.
Marcus Gunn Syndrome
This causes rapid upper eyelid movement each time the jaw moves making the person 'wink' every time it happens. The 'wink' can happen every time the person opens the mouth, chews, smiles or moves it to the left or right. The symptoms are usually present at birth, but the onset may be delayed in some cases. It can affect both eyes with the individual also experiencing vision problems. The exact cause that leads to Marcus Gunn Syndrome is still unknown. In severe cases, surgery might be needed to control eyelid movements.
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