The Challenges of Reaching a Diagnosis (Featuring Lived Experiences)

Birt-Hogg-Dubé syndrome (BHD) is a rare genetic condition that causes lung cysts, lung collapses, skin bumps (fibrofolliculomas) and kidney cancer. It is likely that you, your family and even your doctor had never heard of BHD before you were diagnosed. This lack of awareness often results in misdiagnosis, late diagnosis and uncertainty. This experience is shared by the 30 million people living with rare diseases.

This Rare Disease Day we are highlighting the health inequalities that people with rare diseases face in particular the challenge that has to be overcome to reach a diagnosis. The BHD community have come together to share their experience and give advice to others navigating the healthcare system. If you are currently waiting for a diagnosis they want you to know that you are not alone.

How long does it take to be diagnosed with BHD?

It takes on average 4 to 5 years for someone with a rare condition to be correctly diagnosed. Data from the BHD patient registry allows us to take a closer look at the diagnostic journey of people with BHD. The BHD registry is a centralised database that collects information from people with BHD. The more data collected the easier it is to study BHD and further our understanding of the condition (take part in the registry today).  

As of September 2022, 101 people had recorded information about when they developed symptoms and were subsequently diagnosed with BHD. People typically had their first symptoms at 30 years old. Their first contact with a healthcare service in relation to symptoms was typically at 43 followed by a diagnosis of BHD at 44 (find out more about this data in our 6 month registry review blog post). These results suggest that on average it takes 1 years to be diagnosed after contact with a healthcare service. However, we know for some people it’s a lot longer. The BHD community shared their diagnostic journey which ranged from 6 months to 50 years.

Why does it take so long for a diagnosis to be reached?

Several barriers to being diagnosed with rare diseases have been identified through research. This includes a lack of awareness among doctors, a shortage of experts and the variety of symptoms someone may present with. This means that people may be bounced between different experts as their symptoms do not fit into those of more common conditions. This is echoed by members of the BHD community who describe how their doctors had never heard of the condition. Some people have also had incidences where they have not been listened to when advocating for themselves.

How do we overcome the barriers?

Listing the reasons why rare diseases are not diagnosed can seem daunting. However, identifying the barriers is the first step to making change. Rare Disease Day is an opportunity to highlight the challenges and raise awareness of rare conditions. The more people know about them, the more likely someone will get correctly diagnosed. Additionally, at the BHD Foundation we have resources to support your diagnostic journey:

We have an interactive map of BHD doctors to make it easier for you to find someone who can support you. Or contact us directly and we can help to identify someone in your area.

We also have resources that you can share with your doctor including information on our webpage and leaflets. This can make it easier for them to learn about your condition. We understand that having BHD means you may have to be your own advocate and we are here to support you all the way.

The BHD community are here for you too. There is a patient-led Facebook group where you can ask questions and hear from other people with BHD.

For the creation of this blog members of the BHD community shared their experiences. They also have some advice for those who are in the diagnostic process or are newly diagnosed.  

Here is their advice:

‘Talk with a genetic counsellor…they were so helpful in how testing works, how to get tested and why do you think you should get tested.’

‘Get in touch with BHD Foundation to identify someone nearby to assist them in getting diagnosed.’

‘Even if it is only one organ involved, push to get tested!’

‘Push for genetic testing and move away from doctors that do not listen to you.’

‘Try to live as normal a life as you can. We are all different; some will have more challenges than other.’

‘Get tested!’

‘Don’t stress and get your kidneys checked often’.

‘Request to see a specialist.’

‘Look into genetic testing early.’

‘Get as much family history as you can beforehand. Be patient.

‘Get referred to a geneticist and get tested’.

Be proactive and persistent with your doctors.’

‘Get a DNA test!’

‘See the right kind of doctor…also get the genetic test.’

‘A positive diagnosis is not the end of the world…it’s best to know so we can get the needed surveillance tests…I would also recommend to have family members & relatives tested.’

‘Read reliable information about BHD & don’t be afraid to teach your medical team about BHD as they likely know nothing about it.’

‘Join a BHD support group. Many potential patients are going to want to learn all they can about DNA and hereditary (conditions) and how BHD fits into this.’

This Rare Disease Day we come together to shed light on the time people have to wait to be diagnosed with a rare condition. Together we are not rare, we are everywhere and it’s time we are seen.

Thank you to everyone who took part in the survey to make this blog possible.

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