Difficulties of Rare Disease Diagnosis

According to Rare Disease UK, as many as 1 in 17 (7%) people are affected by a rare or orphan diseases at some stage in their lives. That’s around 3 million people in the UK alone.  But with no name and no label, getting the right treatment for you or your child’s condition can definitely feel like an uphill struggle. And with so many rare and undiagnosed diseases out there, getting the correct diagnosis is often the first major hurdle to tackle in the Diagnosis Odyssey. It begs the question then: if so many people are affected - why are they SO hard to diagnose? Here are some main reasons why.

1. Non-specific symptoms and rare diseases

Diagnosing a rare condition can be particularly difficult if you suffer from generic or nonspecific symptoms. A lot of rare conditions have markers such as weakness, dizziness or vision problems. All of which are pretty common and not signs of any particular disease. Your physician will be trained to determine more common causes of symptoms initially, which means they might not be considering a rare disease at first. In that case, it may be a challenge for your doctor to establish that they’re looking for an answer more unique.

2. Unusual symptoms

Surely, it stands to reason that having uncommon symptoms would help determine your diagnosis? Well unfortunately, it’s not always the case. According to Rare Disease UK, there are as many as 8,000 rare diseases. But what if your physician is not familiar with the disease that’s causing your symptoms in the first place? In that case, you may be referred to a specialist. We know. This can be hugely frustrating. Not only because your doctor can’t give you an answer, but because you’ve got to continue living with this unusual symptom. But remember: be persistent and always seek a second opinion.  

3. Unknown Diagnosis

Occasionally, despite your specialist’s best efforts - you’re simply not able to get a definite diagnosis. Infuriating as it might be, the doctor may determine your condition as ‘idiopathic’ or ‘atypical’, meaning the cause is unknown or they simply don’t have a clue! However, it’s important to keep seeing your doctor for follow ups. They can keep track of changes in your symptoms, new information and potentially find markers that lead to that all important diagnosis. 

4.Referrals Referrals Referals

One of the most frustrating things about suffering from a rare or undiagnosed condition has got to be that feeling of being passed from pillar to post. Patients suffering from rare or undiagnosed conditions visit an average of 7.3 physicians and wait a long 4.8 years before getting an accurate diagnosis.  Grasping a clear clinical picture of your condition when you’ve seen so many specialists, with conflicting opinions, can be incredibly confusing. What’s more, all these appointments take time! And with your symptoms evolving from one visit to the next, it can feel like you’re always going back to square one!

5. The solution?

As many as 80% of rare diseases carry a genetic component, but what does this mean for diagnosis? Well, genetic testing is a great way to finally shed some light on your condition. And fortunately, Mendelian have a home testing service that allows you to do just that, all from the comfort of your own home. Yes, our Rare Disease Test provides up-to-date answers, as we continue to re-analyse your results as new information becomes available. We also grant access to complementary genetic counselling and news about upcoming clinical trials. So if you want answers, visit Mendelian to find out more about taking your Rare Disease Test.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Technology that is changing the face of first line healthcare Empowering doctors in rare disease diagnosis

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