I have a snap shot memory.
An album of where we were when we got Lucy’s diagnosis, or rather all the places we were when her condition started to unfold:
From the young paediatrician who (wrongly as it happens) told me my newborn had Down’s Syndrome, before shutting the curtains around my ward bed and leaving me alone for an hour to digest this information.
To the kind older paediatrician who on day two gently suggested Lucy’s features looked dysmorphic and he’d like to run some tests.
Then the chirpy SCBU nurse who battled with neonatal sized needles and latex gloves around our arms to try and get our blood samples. Our even chirpier attitude and disbelief that a young couple with five university degrees between them could have anything wrong with their genes. The fax shown to us in the SCBU corridor outside the breast pump room. Its scattered numbers and letters looking more like a knitting pattern than a diagnosis.
The string of unanswered phone calls from Guys hospital genetics department and then the one which came and changed everything.
The one I took on the phone at the top of the stairs during which the genetic counsellor announced that “with that result there was no way we weren’t looking at severe disability”.
I still don’t know how I didn’t fall down the stairs.
The hours that merged into days and weeks, trawling the Internet whilst absorbing so much new and alien information it physically hurt. Going to sleep with pictures of chromosome maps imprinted on the inside of my eyelids. The frantic phone call my husband then made back to the genetics department to find out the exact break point on one of the chromosomes as we clung to the hope that things might not be that bad.
The moment the person taking his call refused to give us the information over the phone and I collapsed to my knees and started screaming. I clawed at the living room carpet till my nails hurt and in the shear stress of it I started foaming at the mouth and muttering gibberish in between huge sobs.
The morning a few days later that I awoke early in the clear knowledge that I didn’t want to be alive. Some higher power took my weak body downstairs and phoned 111, who told me to get to A&E. By the time my husband woke I could no longer walk, and was in the early stages of a complete breakdown. The terrified look in my mother’s eyes as we dropped Lucy off to her so that we could go to A&E.
By this time I was mute and withdrawn, very deep inside. The feel of the cold wall against my face in the A&E room as I sat on the floor clinging to it. Ironically it was only then that our family got some professional help.
This simple act of wall hugging, released an army of suit clad psychiatric nurses that visited us once a day for two weeks. No drugs, no therapy, no men in white coats (thank fully) no district nurse, no nanny.
In short no real help.
The look on my husband’s tired face when he came home from the long awaited appointment with geneticist. His own sadness reigned in to protect my fragile state. The world resting on his shoulders. I loved him so much for that, for being strong for all of us.
Breaking the news to family, both here and abroad and hearing their helplessness. Discovering that the genetic fault had been inherited through a balanced translocation, not discovered despite all the tests we had had prior to IVF. Feeling bitterness at the IVF clinic, wanting to blame someone. Terrified of blaming our family. The testing of other family members to see if they had the same gene fault, the net of diagnosis widening to take in others. The mixture of relief and abject jealously when their tests came back clear.
The family curse stopped but at our door, a very difficult thing to handle as a couple.
The diagnosis, a simple line of text on a thin fax had come in and swept us off of our feet. It changed everything and yet because it was so rare, even unique, no one could tell us what it meant. A diagnosis without a prognosis is useless.
Having a unique diagnosis is as useful as having none.
It’s left me to question if Lucy is a SWAN (syndrome without a name) or not?
As the years have gone by we have now become the experts on our daughter’s condition and out of necessity have developed our medical knowledge far more than we would have liked.
There has been some light in the darkness and Lucy through her strength and charisma has shown us in her own way the path forward.
None of us have a map to our future, would we really want to scan along to the end to see it if we could anyway?
This process has changed me profoundly, forcibly and sometimes uncomfortably but I’m finally learning that we are the ones writing her diagnosis. Through our love, support and never giving up, we will help her to reach who she is destined to be. .
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