Tips for undiagnosed rare disease patients

Learning that you or your child has been diagnosed with a rare medical condition is bound to be a momentous event in anyone’s life. It’s often easy to feel helpless and worried and even develop feelings of blame. However, you are not alone. Almost every person with any medical issue has feared the unknown at some stage. Whether you or your child are suffering from a rare or undiagnosed condition, there are always options to explore. We’ve come up with a few to tips to help ease your worry and get you closer to the truth about your health. 

1. Join a Clinical Trial

So, how about taking part in medical research? There are plenty of research programmes working towards improved diagnosis and the welfare of undiagnosed patients alike. If your healthcare provider has been unable to make a definite diagnosis, then participating in a clinical trial might be an option. 

Clinical trials are experimental treatments involving patients, which trial new and/or alternate types of medicine. New treatments must go through rigorous testing before they are subject to patients so don’t panic - they’re not as scary as they may seem. In fact, most are completed in a doctor’s surgery just like any other procedure and one might just help you find the answers you’ve been looking for.

Here’s a short clip explaining (in a nutshell) more of what you or your child need to know about clinical trials: and you can also read more on the NHS website.

Unfortunately, finding the latest clinical trials for rare diseases can be difficult. However, Mendellian always keep an eye out for new developments and research, so we can notify you when new trials and treatments become available. 

2. Join Support Networks

Next - remember your support network and remember, talking is good. It’s easy to become cocooned in your own mind but there are plenty of support groups for people with rare and undiagnosed conditions. Many parents or patients feel that one of the biggest struggles of living with an unnamed condition is the lack of information. It’s normal to have a mountain of questions; whether they’re about available treatments, how your condition may affect the future or how best to manage symptoms. When all of these questions are mounting up - it’s vital to have support. Having friends, family and others who know what you’re going through around will really help bring you hope and, most importantly, feel less alone.

Rare and SWAN UK are fantastic branches of the Genetic Alliance UK, who provide great support for families and patients living with rare or unnamed conditions. Their network has over 2000 supporters, including clinicians, academics and patient organisations. To find out more information on getting involved: see here.

3.  Get a Second Opinion or Genetic Counselling

If your physician is still struggling to determine a definite diagnosis, it might be worth getting a second opinion. Patients with rare or unnamed diseases will typically see around 8 practitioners and receive as many as 3 - 5 misdiagnoses. To that end, you might consider speaking to a genetic counsellor? This is a service that provides information, support and advice from healthcare professionals with specialist training in human genetics.

4. Try Genetic Home Testing for Rare Diseases

Or, how about considering a home testing service? Mendelian’s genetic test is fast, easy and could finally help shed some light on your condition. With our home testing kit, you can send off samples from the comfort of your own home, speak to experienced geneticists and gain access to support groups. And fortunately, we understand the frustration of waiting a lifetime for answers, so our service provides results in just weeks. 

Ultimately, we know living with an undiagnosed condition can be daunting, but there are plenty of measures to put your mind at rest. Visit to find out how to take the next steps.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Speaker Series - Niemann-Pick Disease Type C The Role of the GP in Rare Disease Diagnosis and Care Mendelian at Pitch@Palace We are part of Start Alliance Berlin Digital Health Mendelian at Mayor of London’s TechInvest