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Why a diagnosis is so important for rare disease patients
Patient Advocacy
Chapter 5

Why a diagnosis is so important for rare disease patients

2/22/2021    |    0 min read

Article by: Alastair Kent OBE FRSA, Chair of the Congenica Patient Advocacy Advisory Board and former Executive Director of Genetic Alliance UK.

I would like you to put yourself in the situation of the families/patients and parents with children or family members with life-limiting disorders. 

Some of you will be parents or will hope to be parents at some point in the future. Maybe you are an aunt or uncle of a child or may have friends who have children. Whatever the relationship you have, children are life-changing.

When you find you are going to have a child, the first hope for parents is that the child will be healthy. It will have one of the things it should have one of, two of the things it should have two of, and they will all be arranged in a more or less conventional manner. Fortunately, in developed health economies, most children are born healthy. But, sadly, sometimes our biology lets us down and we have a child who is born with a life-limiting condition, either as a result of genetics or environmental issues or combination of those or other factors.

But remember, this is not a choice people make. Nobody says “Whave a healthy boy and a healthy girl, let's have a child with a life-limiting condition. That will be an interesting challenge! 

When it happens to you, it is a life-changing event that you need to cope with, but it's not one you would have opted for. While some families might be aware of a pre-existing familial risk, for most people, they are unaware of any familial risk. When a life-limiting condition is identified, it's a time of trauma, a time of uncertainty, it's a time of fear and families need answers. They need to understand what’s happened, what will the future bring for them and their child. Will it happen again, and is it treatable? Will their child be able to live a normal life? 


The sad thing is that, although individually rare diseases are uncommon, sometimes only affecting a tiny number of people in a population, because there are so many rare diseases, at least 7000 with more being identified every month, rare diseases are not that rare in society – affecting 1-in-17 newborn babies. If you look at the literature, you'll see that three quarters of rare diseases start in childhood. Sadly, of those, at least 30% of children who have a rare disease die before their 5th birthday so imagine the impact of losing a child on a family. 

Around 80of these rare diseases are genetic in origin, which means that not only do they affect the individual with the condition, but there is a familial risk that goes down the generations and across the family members. Although there have been huge advances in our understanding of the biology of many of these rare diseasesstill around 95% have no effective disease-modifying therapy. 

The problem that you therefore have is that, although all doctors will meet families affected by rare diseases, it's impossible to predict which rare diseases they will come across during the course of their professional career As such, you can't expect most doctors to understand the condition which has manifested itself in you, your child, in your loved ones automatically, so families often struggle to get a diagnosis.  

People affected by rare diseases may wait months or years to receive a diagnosis; they may visit multiple specialists for tests and procedures, which may be invasive, painful and require a general anaesthetic. Frequently, there are missed diagnoses made, sometimes more than one misdiagnosis.  

You can imagine that if you get a misdiagnosis, your clinicians are working in the dark. You may miss out on opportunities to understand and to receive interventions that might help. For example, if something can be done, you are missing out on it being done in a timely way because, for certain disorders, early interventions may prevent irreversible symptoms. You may in fact receive advicetreatment or support that does not help as it may refer to a disease that your child does not have. It may even exacerbate this disorder.  

You can’t plan because you don’t know what the future will hold. Is the disorder progressive, will it happen again in another child? Will the child continue to develop in a more normal way, or will there be severe problems in the future? As such, you get poorer access to services and support because you don’t know what the problem is and you struggle to find anyone who can say “I know what this is, this is what it means, this is what we can do about it!”. 

This is where genomics in general, and Congenica in particular, is a game-changer.