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Medical Mystery: Rare Diseases That Still Puzzle Doctors

Discussion in 'Family Medicine' started by dr.omarislam, Sep 18, 2017.

  1. dr.omarislam

    dr.omarislam Golden Member

    Apr 30, 2017
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    The world of science and medical has come a long way with the help of advanced technology. There are still some mysteries, though, that have rocked the medical world – as doctors continue their quest to find ways to cure diseases which they do not understand. Here are three rare diseases that have puzzled doctors.

    1. Brugada Syndrome: Cardiac rhythm disorder
    In general, eating hot dogs are not considered healthy; but what happened to a nine-year boy after he had just one bite was truly unexpected: His heart stopped! As it turned out, the boy suffered from Brugada Syndrome (BS) – a rare condition with symptoms like sudden cardiac arrest and fainting.

    The incident happened in school when the nine-year boy fainted after taking one bite of a hot dog. Though many thought that he choked from that one bite, it was discovered later that his vagus nerve (a function of the heart and gastrointestinal system) changed his heartbeat.

    What is Brugada Syndrome?

    Though there is limited research available on Brugada Syndrome, it has been found that this condition is inherited and that it has the ability to make the heart go into an irregular rhythm. Other more serious symptoms include seizures, sudden death and fainting.

    Who are affected?

    So far, research data shows that BS affects more men than women. The average age of diagnosis is said to be 40; but there have been cases whereby young children and even newborns are diagnosed with BS.

    Experts claim that not all cases of BS patients are the same. Some patients have not shown any symptoms at all. It has also been discovered that patients, who are affected with the fainting symptoms, think that it’s just a common fainting spell.

    Pam Husband, president and executive director of the Canadian Sudden Arrhythmia Death Syndromes (SADS) Foundation, explains that “it’s all about the adrenaline surge [and] the heart. If you have symptoms, go to a family doctor and request a cardiac assessment in a medical centre familiar with the disorder.”

    2. Instant and extreme paranoia

    Emily Gavigan was a sophomore at the University of Scranton when she started showing signs of a bizarre and disturbed behaviour. It all started in 2008 when Emily’s parents noticed that she started rambling and talking about things that didn’t make any sense.

    She was convinced that something terrible was going to happen to them. Things became worst when one day Emily disappeared for more than 24 hours. She drove off in her car from Pennsylvania to New Jersey and ended up at her grandparents’ house.

    She did all this in a fright because she thought that she was being followed. Her parents brought her to the hospital and doctors thought that Emily had a mental illness. She went from different psychiatric facilities to trying different types of medications, but nothing worked.

    A year after, Susannah Cahalan, a reporter at the New York Post, appeared on an episode of NBC's Today show to talk about something she had written about, an experience of hers titled "mysterious lost month of madness." (Cahalan has written a book, “Brain on Fire”, detailing her struggle to recapture her identity – as she experienced numbness, paranoia, sensitivity to light and erratic behaviour.)

    While watching the show, Emily’s parents felt a sense of deja-vu. It was as though Susannah was telling Emily’s story of how she suddenly became paranoid and exhibited odd behavior for no reason.

    After several visits to doctors and after going several tests, a neurologist concluded that something was wrong with the right side of Susannah’s brain. This was something that could be treated, as opposed to an unknown and unproven mental illness.

    Emily Gavigan began displaying odd behaviour when she was 19. Photo credit: CNN

    Autoimmune disease: Autoimmune encephalitis
    What she was suffering from was discovered to be a type of autoimmune disease. Emily’s parents realised that she might be suffering from the same disease and insisted that the doctors get her tested. The result turned out to be a diagnosis of autoimmune encephalitis.

    Doctors treated Emily’s diseases with medications, such as steroids, and treatments, which helped suppress the immune system and counteract the harmful antibodies. It took a while for Emily to recover and when she did, she was back to her normal self.

    3. CACT: A rare genetic disorder with only 30 recorded cases worldwide'

    Gage is a 9-year old boy, who was diagnosed with a rare genetic disorder when he was born in 2008. Doctors diagnosed him with Carnitine Acylcarnitine Translocase Deficiency (CACT), which is considered one of the Fatty Acid Oxidation Disorders.

    A rare disease worldwide

    So far, there have only been 30 recorded cases of CACT worldwide. There might be more, but due to the high mortality rate of the disorder upon birth, it could have just been classified as Sudden Infant Death Syndrome (SIDS) instead of CACT.

    Among the many symptoms of CACT are low muscle tone, hypertrophic cardiomyopathy (thickened heart muscle), and liver dysfunction. Currently, Gage is the oldest living recipient of this disease with this type of severity.

    When he was born, Gage had a severely elevated ammonia level of over 800mcg/dl. He went into a coma and was quickly transferred to another hospital that was better equipped to deal with his situation.


    Max, a father living in Arizona with his 9-year-old son Gage, who’s diagnosed with CACT. Photo credit: Rare Disease Report

    Near-death condition

    Despite the fact that he survived his near-death condition, Gage was at a risk of having CACT affect many of his organs, especially the heart. Doctors used Medium Chain Triglyceride oil to treat him at first and then used Triheptanoin (C7) oil to regress the thickening of the heart.

    Both of Gage’s parents tested positive as carriers of CACT, something that shocked them as the possibilities of this happening is considered very rare. With not that many successful treatments available, Gage today is still unable to talk and is wheelchair bound.


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