Hammering at the door of a Rare Disease

Door

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.

The ‘Almost’ Diagnosis

WaitingWaiting

I have to be honest it was a shock – a routine genetics appointment that transformed into the meeting we thought we had hoped for but that actually led to the saga of the ‘almost’ diagnosis.

You can picture the scene, completely unprepared for what could have been momentous news. The Consultant’s room includes an accessible sink, too tempting for our water obsessed GG who persistently battled her way past us to turn on the taps. GG’s younger brother climbing on the bed like 2 year olds do. We were not exactly set up for what came next.

For those who share our Swan world, the DDD study will be familiar territory. For those who do not inhabitate our World, I am referring to an international genetics research programme that is seeking answers to the challenges of thousands of undiagnosed children. GG has been on the programme for 2.5 years, bloods and saliva samples provided all that time ago followed by silence. We awaited news, along with thousands of others, that could be life transforming for our beautiful girl.

I will never forget those words ‘ The DDD study has returned a result’. My heart skipped a beat. Was this the moment we had waited for? Dreamt of? Were answers about to come? Were there others with the same condition? Could this result help GG in the long term? The questions raced around my head. Alas, the hopes were dashed with the very next sentence.

‘BUT….we do not believe this result is significant for GG’. Confusion does not come close to describing how I felt in that moment. It seemed we had come so close and yet were still so far.

Making the most of our momentary distraction, GGs determination paid off, she made it to the taps and water sprayed across the room – her little brother now dripping wet and screaming. In a daze, we dried them off, offered bribery in the form of a packet of crisps and turned our attention to the matter in hand.

The DDD study had identified a mutation on the gene NOTCH2, one of the thousands of genes that make us human. This is typically associated with Alagille Syndrome. Neither I nor GG’s Dad have the same mutation and therefore this finding was potentially significant. However, having reviewed GG’s medical history the dots did not join up. No known heart problems, butterfly spine has never been mentioned, kidney problems had already been ruled out whereas eye issues were already on the list. In no time at all, we were bid farewell with promises of referrals to cardiology, spinal x-rays and Orthoptics, adding a host of appointment to the ever growing list.

The next few hours felt surreal. Despite the crisps, the munchkins were hungry so we headed to the hospital canteen and fed them chips (I promise you we are normally healthy eaters). We had so much to say but sat in near silence, unable to take it in. The emotional reactions came later, what if it is Alagille syndrome? What if there are heart issues? The scared tears. The disappointed tears. The ‘what do we do now’ tears. Then the pulling ourselves together and cracking on as always.

With a fair few comments of ‘Never mind – GG is still GG’ from family and friends, I turned to the Swan group for advice and empathy. As always, we were not disappointed and were surprised at the number of other Swans who have been ‘almost’ diagnosed.

We are now 3 months on from that not so momentous appointment. The spinal x ray has been done and we await the results. Cardiology is booked for May, Orthoptics for July – the wait seems never ending but medically there is no urgency. Limited consideration is given to the impact of not knowing, the stress of the ‘what ifs’ and the overwhelming urge to google which I have resisted thus far.

So yes, GG is still our fabulous amazing GG, continuing to make us smile every day with her determination and belly laughs. And we wait, desperately hoping to rule out heart and spinal issues whilst at the same time hoping beyond hope, that the elusive answer we dreamt of will come one day.

Rediscovering my Blogging Mojo

 

rediscovery

After a year of abstinence from blogging – give or take the odd guest blog for Swan UK, a few blogs written but not published, and a handful of Swan Twitter Takeovers – it was with slight trepidation that I turned up on a cold January Saturday morning, to a Swan bloggers workshop in Birmingham. As a relative novice in the blogging world I felt a little nervous that I did not deserve a place around this table of award winning, amazingly talented and highly committed Swan Bloggers – needless to say I need not have worried….

The welcome was astounding – people whose trials and tribulations I have followed online, I was meeting face to face for the first time and immediately felt like old friends. Hugs were gratefully received, stories shared and the collaborative brain power of the group resulted in some fantastic ideas for ‘Undiagnosed Children’s Day’ in 2016.

Needless to say I rediscovered my blogging mojo….I am inspired and I am back!

After a week of debating my blogging platform, exploring different blogging approaches and generally tying myself up in unnecessary knots I have decided the following….

‘The World of Gorgeous Grace’ will live on and I aim to tackle two things. Firstly, to blog about my daughter GG who continues to inspire and amaze me, and to whom I owe a voice in the absence of her own. GG is undiagnosed. GG has a host of challenges. I am in a position to raise awareness, call out when things are not right, and try and make a better world for GG along with all the other gorgeous Swans out there.

Secondly, I am determined to make a noise about the poor co-ordination of services, this being a key theme of the discussions had at the aforementioned workshop. Recognising that this is an issue for all disabled children, it is exacerbated for those without a diagnosis – no label to hang our hat on. To this end I have set up a meeting that I hope will be the first of many with people who can make a difference. This first being with my MP – I am hoping for a positive response as he has joined the recently established APPG for undiagnosed children. Did I mention that the meeting is in March? Leaving just a month to pull together a picture of how disjointed our experiences are and the potential cost benefit of greater co-ordination. I had better get cracking!

My final word is a huge thank you to the group of awe inspiring women who form the Swan blog group, and the team from Swan who support us through this quagmire of a journey. I promise you at the next meet up I will join in with the wine. 