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: https://www.youtube.com/watch?v=ZPzMhb6uAzQ and you can also read more on the NHS website.
2. Join Support Networks
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.
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 Difficulties of Rare Disease Diagnosis We are part of KQ Labs Mendelian at The rare disease challenge meeting Eastern AHSN and Mendelian working together to help to help identify undiagnosed patients