A few years ago, whilst frantically trying to get travel insurance for an upcoming trip to Walt Disney World, I stumbled across SWAN UK. I was desperate.
I had a five-year-old son whom we had promised a visit to Mickey Mouse in Florida, but found that with an undiagnosed condition, no company would insure us. Thankfully the SWAN UK family pointed me in the right direction. This was my first real experience of the difficulties life with a SWAN (child who has a syndrome without a name ) presents and how helpful it can be to be connected with a group of parents with similar challenges.
I am Gillian, now a stay at home mum and home educator to the very gorgeous eight-year- old Finlay. I am also tremendously lucky to have a supportive husband, and amazing Dad to Fin, Neil.
Finlay (whose name aptly means fair-haired warrior) arrived into this world a few weeks later than expected in a somewhat dramatic way. We spent some time in the Special Nursery in Aberdeen Maternity Hospital with then suspected meningitis. The day we finally got Finlay home was amazing and I will never forget the pride I saw in my husband’s face when we took our wee man for his first walk in his pram. At this stage we believed the worst was over, and our wee man would progress, though perhaps a little slower in pace than his peers.
Not long after his fourth Birthday, something just didn’t seem “right”.
Like many SWAN parents, we encountered a lot of issues getting heard. We continued to point out various concerns we had about our son, but no one really “listened”.
We ended up with a misdiagnosis of cerebral palsy. We continued to tell experts our concerns, and finally, a consultant orthopedic surgeon listened to us and put us on the right path – a confirmation that the physical deterioration we saw in our son was not “normal” and ultimately MRI testing confirmed that he has a rare undiagnosed neurodegenerative disease.
I don’t think anything could have prepared me for the journey ahead. Naïvely, perhaps, I believed that when doctors knew symptoms x, y and z existed a diagnosis and prognosis with (hopefully) treatment recommendations would be given quickly.
However, two and half years later we are still looking for answers. The diagnosis initially suggested (mitochondrial disease) remains unconfirmed after extensive testing. We have also been involved in the DDD (Deciphering Developmental Disorders) study, which, in the last few weeks, has flagged up another potential condition and biochemical testing is ongoing for this. If this is negative we are going to join the 100,000 Genomes Project. However, whilst there is still a plan for testing, we are facing a difficult reality that we may never have (or have in time) a diagnosis.
Every day I see my amazing little boy and I am so delighted by him, and every day I see my amazing little boy and it breaks my heart that I don’t know what is wrong with him.
Sometimes I ask myself, why do we keep going through this? What does getting a diagnosis really mean?
We are clear that our son’s condition is life-limiting and a diagnosis won’t change the inevitable. However, I always come back to the same answer – my biggest worry – that if we knew what was wrong with him, would we do something differently? Would there be some treatment we could try? Is there something that we are missing here? Neil and I love him so very, very much that we would fly to Timbuktu and do anything to even just stem the progression of this horrible illness that he has. If we could change this, we would. But without a diagnosis, without a name to go on, we are left with no option but to just make the most of every day.
In finding SWAN UK, I have stumbled upon a lovely, supportive group of people. Whilst our children’s conditions are different, we share many similar frustrations and concerns. We often find no one knows how best to address our children’s needs, because we have no name for the conditions they have. But we support each other in this. I have had advice on the little practical day-to-day matters, support during hospital visits, met some lovely SWAN UK mums locally and others virtually through Facebook, I managed to raise a little money for the charity (thanks to family and friends) and am looking forward to a Christmas Pantomime trip with other SWAN UK families. On the difficult days, I know there is someone who understands this journey, as they are on it too.
A few months ago, after a hospital stay, our little man was still feeling quite low. The doorbell rang and he received six helium “get well” balloons and a note saying how special he was from his friends at SWAN UK. This meant so very much to us all. Finlay loved the balloons and they cheered him up enormously. Neil and I were very touched that our precious wee man had been thought of in this way.
I hope that in writing our experience that other families in similar situations can know and experience the SWAN UK love and support that we have.