The ‘Almost’ Diagnosis


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.

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