Life with a rare disease can be extremely stressful and scary. Because of how uncommon they are, it can be extremely difficult to find the support either you or your loved ones need and it may be equally as hard finding somebody to talk to who understands what’s going on.

However, there are plenty of measures you can take to ensure that the quality of life when suffering from a rare disease isn’t as severely impacted by the condition. In many cases, those living with a rare disease can still remain active and productive as they continue to have fun and spend time with friends and family without the need for around-the-clock care from loved ones.

Let’s take a deeper look into what rare diseases actually are and how you can continue to live life to the fullest despite being diagnosed with such an uncommon ailment.

What are rare conditions?

So, what is a rare disease? Well, a rare disease is one of many illnesses that are extremely uncommon and are thus difficult to diagnose and, at times, tricky for professionals to understand. The European Union classifies a disease or condition as ‘rare’ if it’s known to affect fewer than one in 2,000 people within the general population. At present, there are more than 7,000 known rare diseases around the world, and new conditions are being listed within medical literature regularly.

(Image: Congenica)

As we can see from the infographic above, despite rare diseases being uncommon, collectively they can affect one in 17 people at some point in their lives.

Rare diseases can also take as much as five years on average to diagnose, meaning that there can be long and uncertain waits for patients hoping to get to the bottom of their condition. Sadly, many rare diseases also have no effective treatment in place - again, due to the sheer lack of data available.

Amongst those categorised as rare diseases are uncommon forms of cancer such as childhood cancers and some other widely known conditions like Huntington's disease and cystic fibrosis.

The data above also shows us that 75% of rare diseases affect children, and that 80% of cases are genetic in origin. This means that many illnesses will be diagnosed as SWAN by doctors, which stands for syndrome without a name, and this acronym is commonly used as professionals work to gain more of an understanding of the condition that a child is suffering from.

However, just because an illness can go undiagnosed, it doesn’t mean that a patient can’t live an active and enjoyable life. MedicAlert is passionate about giving those who live with rare diseases and their friends and family affected peace of mind through the use of our personalised medical ID jewellery.

Although rare diseases are difficult to diagnose, our services can ensure that medical professionals will quickly know everything they can about your details should you require help, and they can use this data to make far more educated decisions about treatment - especially if you’re unable to communicate directly with them.

Diagnosis

Frustratingly for many sufferers of rare diseases, due to the lack of information that we’re able to access surrounding various conditions it can be extremely difficult to successfully diagnose something that affects so few people.

However, researchers have been making good progress of late to diagnose, treat and potentially even prevent many rare diseases. Despite this, most rare diseases have no treatments, which can make life harder for those living with such ailments.

Efforts to improve and bring rare disease treatments to market are coordinated by the FDA (Food and Drug Administration). The Office of Orphan Products Development (OOPD) has been established to incentivise the development of rare disease treatments among drug companies.

Although it’s profoundly difficult to discover and release treatments for rare diseases, there’s certainly progress being made. Between 1973 and 1983, less than 10 treatments for rare diseases were approved by the FDA, but since 1983, the OOPD program has aided the development and brought to market over 400 drugs and biologic products designed to treat rare diseases.

Helping a loved one with a rare disease

One of the best things you can do in helping a loved one who’s living with a rare disease is to seek information related to their condition. Although it may be tougher to find info on uncommon illnesses online, almost every disease will have its own advocacy organisation on the internet, and spending time to look up what life with a specific rare disease is like can pay dividends in helping you to understand what your friend or family member is going through.

It’s also important to be considerate of your loved one. Every condition can affect people in different ways and although it can be great that you’re constantly checking in and tending to the needs of your loved one, there may also be times where they’d rather not receive any special treatment.

Likewise, brace yourself for cancelled plans and difficult conversations. Life with a rare disease can be confusing, upsetting and extremely stressful when you can be left feeling like you're the only person in the world experiencing their condition.

Finally, try to learn how your loved one enjoys your help. Ask questions to learn more about their condition, but don’t persist if you receive any indication that they’re uncomfortable talking about their rare disease. Also, learn when they most enjoy your company and when they would prefer to be alone.

How to deal with your own rare condition

Whether you’ve been diagnosed with a specific rare disease or you’re one of the many undiagnosed patients around the world, it can be highly beneficial to find others who have had similar experiences online.

Be sure to look to social media platforms like Facebook for support groups and take to RareConnect to get in touch with people who you may be able relate to.

In many cases it’s possible to continue having an active healthy lifestyle alongside your condition but as cases vary, it’s important to talk to your doctor to gain a better idea of what may be good or bad for your condition.

Some individuals can be fearful of continuing their daily lives in case their rare disease causes them to require urgent medical help. However, MedicAlert strives to help its members, many of whom suffer from rare diseases, by providing them with medical jewellery and centralised medical records that can help medical professionals to quickly understand the right care to provide you with.

Tips to help

If you’ve been diagnosed with a rare disease, you may feel helpless and anxious. But it doesn’t have to be this way. There are plenty of great tips to help you to continue living your life to the full despite your condition: 

• Find an online community: One of the hardest parts of living with a rare disease is the feeling of isolation you get when there are so few fellow sufferers out there. However, the world’s a big place and there are many online communities that are designed to help bring those living with rare diseases together to share their experiences and to support one another.
• Care for your health and happiness: Although your rare disease may be difficult to understand, maintaining a healthy diet and making sure you get regular exercise is a sure-fire way to look after your body and be better prepared for life with your condition. It may also be worth looking into relaxation and meditation techniques to keep your mind healthy, too.
• Look for clinical trial opportunities: Although participating in a clinical trial may not seem so exciting, they can often provide you with the most cutting edge care for your condition. There are plenty of opportunities online and discoverable via the NHS website.
• Don’t be afraid to ask for help: You may not like to make yourself feel vulnerable, but reaching out to friends, family, professionals or fellow sufferers can be a great way of sharing your concerns, questions and experiences.
• Store your documents with MedicAlert: MedicAlerts online records can hold all of your medical documents for you, so you no longer have to carry them with you everywhere you go. This also means that medical professionals will have access to them in an emergency via the 24/7 emergency line.

How MedicAlert can help

MedicAlert is the only charity in the United Kingdom that offers medical ID services. We strive to ensure that people with medical conditions are kept safe should an emergency occur.

We store our members’ medical information and make it available for those who are caring for the individual. All members of MedicAlert wear a personal medical ID bracelet or necklace that’s engraved with their vital medical information, our 24/7 emergency helpline and their membership number.

Because it can be difficult for medical professionals to immediately diagnose somebody suffering from a rare disease, their medical ID jewellery instantly helps to direct them towards what their next moves should be - even if the individual is unable to communicate at the time. Not only does the record hold this vital information, but it can also hold details of your specialist consultant. This means that medical professionals can contact these consultants if need be to give you the best care possible.

Our service helps to not only ensure your safety no matter where you go, but it also provides invaluable peace of mind. Although emergencies are relatively rare, MedicAlert gives you the confidence to continue living an active life to the fullest without the fear of something going wrong.

MedicAlert’s aim is to help ensure that people continue enjoying the things they love regardless of  any curve balls that life might throw our way and, with our medical ID jewellery, you can feel emboldened to live the life that you want without worrying about what may happen.