Why Diagnosis Matters
Living with an unnamed or undiagnosed condition can be daunting, particularly if your search for answers seems to be ongoing. But no matter how challenging that may be, it’s important to remember that diagnosis is key. Finally receiving a correct diagnosis not only gives patients that much needed reassurance but allows them to plan for the future, research and seek the appropriate treatment. Yes, in itself, it can be challenging but it’s often the first major step towards sourcing the many treatment options necessary. And even if there’s a shortage of medication out there, remember: it is still a vital component.
So, what is diagnosis?
It’s the identification of the cause of an illness or condition by examining a patient’s symptoms. Physicians typically collect information from historical and physical examinations to establish what’s causing a person’s condition. Despite performing various diagnostic tests, finding a definite diagnosis can be tricky — often because many symptoms are pretty generic. For example, a patient may have redness of the skin which, on its own, is symptomatic of a range of disorders. In which case, your doctor may perform a differential diagnosis.
What’s a differential diagnosis?
This includes circumstances where several possible causes must be compared and contrasted. The physician will weigh up the probability of different potential diseases by correlating various pieces of information and assessing the occurrence of patterns. As such, you may be diagnosed with more than one condition which share similar symptoms.
What is a dual diagnosis?
Sometimes also referred to as ‘co-occurring disorders’ or ‘COD’, dual diagnosis occurs when the patient suffers from both a mental illness and co-morbid substance abuse problem. Take alcohol abuse, for example, which can cause a plethora of other co-occurring conditions such depression and many others which may be more difficult to diagnose. A physician will determine a dual diagnosis when they’re able to identify the presence of two or more individual conditions occurring simultaneously, rather than assuming an all-encompassing disease!
Why is early diagnosis so important?
Whatever your condition, an early diagnosis is invaluable. The longer it takes, the more likely you are to manage your symptoms incorrectly and worse yet, the more likely your disease is to progress. Although it may feel like you’re going round in circles, the more you pursue those answers, the quicker they’ll come. Once you’re diagnosed, you’ll be able to plan and access the advice and solutions you need.
So, how can I get the right diagnosis in the UK?
Fortunately, there are quite a few options. Speaking to your healthcare provider is always a good start. Even if they’re not able to give you answers straight away, the likelihood is that they can refer you to someone who will. But there are other avenues to consider if you’re still searching for the truth. Genetic testing can help identify abnormal genes or chromosomes and point you in the right direction for the correct diagnosis. Taking part in medical research can also lead to massive breakthroughs, and not just in your own personal case but for others suffering too.
There are a number of online symptom checkers you can use to shed more light on what’s causing your condition. Isabel symptom checker is used by medical professionals worldwide. It allows you to enter any number of symptoms, include test results and any other conditions you may suffer from. With that information, it presents a comprehensive list of possible diagnoses for your case, as well as related medical research. So once you’re clued-in, you’ll be able to have a far more productive conversation with your physician. Other useful tools for providing medical information include WebMD, NHS A-Z and Mayo Clinic.
Mendelian Symptom Checker
If your case is proving particularly tricky to diagnose, then Mendelian’s symptom checker and library of information on rare and orphan diseases is the perfect place to look. We know that diagnosis is capital, so we collaborate with medical researchers and professionals to provide an extensive catalogue of up-to-date information on hundreds of rare diseases. And don’t worry, you won’t have to sift through all of those one by one. Simply, enter your symptoms and we’ll generate all of the appropriate resources; meaning you can finally get the medical advice you need.
Don’t wait. Check out the Mendelian Symptom Checker now and discover the answers you’ve been looking for.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like A Day In The Life Of...Dr Pradeep Ravichandran Autism Spectrum Disorders: Definition and top 150+ rare diseases related to them. 10 million patient-disease scans: 5 lessons we’ve learned The Role of the GP in Rare Disease Diagnosis and Care Mendelian receives over €570k for its rare disease diagnostics by Innovate UK Mendelian at The rare disease challenge meeting