Getting a Rare Disease Diagnosis in a New Country: Now What?

Getting the diagnosis of a rare disease is always difficult, but navigating the experience in a new country, new language takes it to another level. Fortunately, Stephanie Ernst Miller is here to share effective strategies for managing this most difficult of situations.

Parenting is hard.  We go through the challenge of falling pregnant, carrying a pregnancy, and then the birth itself. There are so many choices, so many decisions, and each one makes an impact on our lives. C-section vs vaginal delivery? Breastfeeding or bottle-feeding? Midwife or obstetrician? Homebirth or hospital delivery – the list is endless, and everyone has an opinion on what is best.  

(Pssst. Honestly, the answer to these questions is to do what is best for you and your baby and weigh up all the pros and cons with your care team. That's it. There are no secrets.)

But when you receive the news that your child has a rare disease, you are faced with a whole new playing field.  One that is often full of hurdles and a lack of information. When you are also navigating this in a different language, the challenges become intensely real. 

A Rare Disease Diagnosis

I've written extensively about my own story, including how it paralleled with an old painting and the challenges I've had advocating for my kids to get a diagnosis. Living with a rare disease in a foreign country (in my case the Netherlands) can be challenging. Still, there are places to turn to gain community and medical support. 

Getting the diagnosis can be the most challenging part, but you can do things to gain support once you have that diagnosis. Here are my top 5 recommendations:

Talk with Specialists

The first thing I would recommend is talking with a specialist.  Your huisarts probably won't have all the information – sometimes you'll be the first and the last patient your huisarts will have with a particular condition. Your specialist at the hospital will be your lifeline into details regarding your diagnosis. 

Ask them if they're aware of any patient organizations or support networks within the Netherlands (and the world) that they think are good, reliable sources of information.  Ask them if you can stay in touch with them as well, and if they get new information about your specific disease, send it through to you.  Most doctors are more than happy to stay in touch, and at their checkups.

Always ask the question; "What's new in the (diagnosis) world?" 

* Bonus tip: Ask the name of your diagnosis in English, Dutch, and any other names it might be known as.  It makes your life easier when you're doing your searches and updating your care team. Disease registries are updated and changed regularly – new definitions are found – so it's essential to know all the names.

Harness the Internet

I'm a massive proponent of patient-led advocacy. While I do know that we can't believe everything that we see on the internet, there are times when the information we find can help us. Take everything with a grain of salt. There is a lot of misinformation out there and many false cures, but this is why you take everything back to your care team and talk about it with them. 

For every piece of misinformation on the internet, there is also positive and good information. 

Find Your Network

This is a hard one, but it's worth the search.  Many rare diseases have their awareness and advocacy groups.  As I said above, you can always talk to your specialist if one is in the Netherlands or even in the world.  Great places to also find rare disease groups are the National Organization For Rare Diseases (worldwide),  Orphanet (EU/Worldwide), and within the Netherlands, the VSOP.  

These organizations are usually active and always ready to provide peer support and access to research.  They organize events for patients and can often be a place where people can laugh, cry, celebrate, and mourn with you.  Finding your community is just as important as finding a diagnosis.  No one understands you more than someone who's travelled the same road. 

Get Involved

There's a lot of ways to get involved when it comes to rare diseases.  Many hospitals are running clinical trials and research studies, and you can become involved this way. It's an excellent way to know more about your diagnosis but also to actively give back. 

If an organization doesn't exist for your diagnosis (like in my case), start one! Facebook is a great connector of people across the world, as are online forums. You can create a free blog or website about your story, actively write articles, join groups of patients without a diagnosis. 

Rare Disease Day is another great tool! On the 28th of February each year (or 29th if it's a leap year), rare disease patients across the world come out and talk about their challenges. 

In my case, we are involved in long term research at the LUMC. I also have become active in the rare disease community, talking about the myths and misconceptions about Twin Anemia Polycythemia Sequence. I've also participated in research projects and helped write some papers as well.  

Look After Yourself

Often as rare disease parents, we sometimes overlook our health. It's hard enough to be in a foreign country with different medical systems than we're used to. In these circumstances, the pressures of being far from home can add additional stresses to expat life.

Talk with your huisarts and your specialist about the challenges you're having.  They can make referrals and recommendations to help you cope – community groups that may exist, even mental health and financial assistance you might be eligible for.  

Amsterdam Mamas has a directory of resources also available – businesses that cater specifically to expats.  Book a massage, find that babysitter, but make sure your health is also a priority. 

A rare disease diagnosis in the Netherlands can be difficult, but using simple strategies to make sure you're on top of not only your kids health but your own can make a huge difference.  


Stephanie Ernst is a freelance writer and self-proclaimed TAPS Nerd. She moved to the Netherlands in 2013 to be with her German husband and they raise their identical twin girls who were born with a rare disease at 31 weeks. She is the founder of the TAPS Support Foundation and spends her free time raising awareness of the issues facing parents of twins as well as supporting research into Twin Anemia Polycythemia Sequence (TAPS).


 

  






 

 

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