Hammering at the door of a Rare Disease


Having an undiagnosed genetic condition sucks. Having a rare disease also sucks. So why are we pursuing that elusive diagnosis that will ultimately be a rare disease?

We are not daft enough to think that after more than 5 years of searching, (including 2.5 years on a ground breaking international genetics research programme), that a diagnosis will provide GG with a known and understood diagnosis. However we continue to seek the rare disease – or even genetic mutation that does not yet link to a known disease. There are many reasons why.

#1 – There is something to write / type into that small box usually called ‘medical condition’. I have tried both ‘unknown’ and ‘undiagnosed genetic condition’, neither of which satisfy the faceless individual assessing GG’s case. However there is not room for ‘3 types of epilepsy, low muscle tone, hypermobility, sever learning disability, squints, misaligned bones, uneven leg length’…..the list goes on.

#2 – We will have an answer to ‘what’s wrong’ / ‘why’ – having an explanation is helpful in social interactions – that would be a start. However way more impactful for us is that a diagnosis will explain why. It is hoped that the ‘why’, will finally remove the never ending soul searching of what did I do wrong? Did I cause this by eating that piece of blue cheese before I knew I was pregnant? Ridiculous? Maybe, but very real.

#3 – We have a chance of understanding if this is a hereditary condition. Not for us I hasten to add, after the arrival of GG’s little brother, we closed that chapter, agreeing that we had rolled the dice one last time and been lucky. However GG has 2 siblings who will no doubt in the future want to consider having a family. Knowing if they carry a hereditary condition will be important.

# 4 – Hope. Pure and simple. A rare disease diagnosis would give us hope that in GG’s lifetime there maybe treatment, even a cure. I know I am getting carried away now, but we cling onto that hope.

Hats off to all those battling with rare diseases, we do not underestimate the challenges you face in finding and accessing the support you need. However we do not wish to remain in the undiagnosed camp and very much hope that one day we will join your ranks. We know we will be welcomed with open arms.

5 thoughts on “Hammering at the door of a Rare Disease

  1. There is also always the hope that one day you meet somebody on the internet with the exact set of symptoms, and you can connect and share experiences. Even if you never get a diagnosis, the knowledge that this condition is not unique and there is at least one other person in the world with the condition can be very helpful.

    The power of the internet is essential in bringing together patients with rare disorders and un-diagnosed conditions. There is always the chance that somebody one day will read your story and think it sounds very similar and a diagnosis could be reached from an unexpected source.

    I have a rare, but diagnosed condition called Kallmann syndrome, and I find the internet, blog sites, Facebook vital in raising awareness of my condition so I can help patients reach a diagnosis when medical professional s fail them.

    I hope you one day soon achieve your diagnosis and this will open the door to meeting other patients and families with the same condition.

    Patient groups and communication is a vital part in living with rare disorders I feel.

    Best wishes on your journey.


  2. I have Hereditary Spherocytosis with Immunoglobulin A Nephropathy. One of a few people known to have these dual conditions. Very hard to seek and find correcr diagnosis even from specialists. In western medicine we are very poor at communication of rare diseases. Have had to be vrrbally agressive for answers I too have been banging my head against a brick wall. James Victoria Australia.


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