My name is Gemma and I’m single Mum to Isaac (14), Patrick (10) and Daisy (3). My son Patrick is a SWAN and I’d like to tell you a little of his story so far …
Patrick was born full-term after a healthy pregnancy and for the first few weeks he seemed to be thriving. When Patrick was six weeks old I noticed that he was behaving slightly oddly. He would be lying down in his crib or on his play mat and all of a sudden his arms and legs would rise simultaneously; he’d hold it for a second then relax. I noticed it a few times over the course of a week and I knew what he was doing looked a little strange but babies make all kinds of funny movements so I didn’t worry too much. I did speak to his GP and our health visitor about it (the health visitor actually witnessed it) but was told it was ‘probably nothing’ and not to worry. Two weeks later Patrick started having very strong obvious epileptic seizures, it was clear then that what I’d witnessed before had also been seizure activity but not having seen anything like it before, no one recognised it as such.
And there started our journey into the unknown.
At 10 weeks old Patrick was rushed into hospital, suffering from a continual seizure called ‘Status Epilepticus’. After a few days of tests and scans and various attempts at controlling the seizure with medication it was decided that Patrick should be placed in an induced coma. This was without doubt the scariest part of our journey – handing over our baby to literally be re-booted (that’s how it was described to us). They put Patrick to sleep, pumped him full of seizure medication then tried to wake him up. The first time he started to gain consciousness I held his hand as he started to come back to life and knew instantly that it hadn’t worked. I could feel his tiny hand twitching in mine and knew he was still in a seizure. After a long discussion with doctors it was agreed they could try once more and put him back into the coma to try a different combination of drugs. Five days later, Patrick woke up, seizure free, but by no means was he out of the woods.
For his first year of life Patrick was in and out of hospital with uncontrolled epilepsy. The neurologists ran test after test to try and establish the cause of his severe seizures. I didn’t know at the time but epilepsy is really a symptom and there is usually a known disorder or syndrome that causes the seizures. Patrick had some recognisable brain damage, consistent with a baby that had suffered a loss of oxygen during labour but as Patrick’s delivery had been normal and no trauma detected this was discounted as the cause. The hospital ran metabolic tests and came up with nothing so referred us to the genetics team at Poole Hospital.
As time went on it was clear that Patrick wasn’t developing normally. He spent most of his time asleep due to the high doses of medication but when he was awake Patrick wasn’t gaining any skills. He was unresponsive, couldn’t sit or hold his head up and had no control of his limbs. It wasn’t until he was at least 18 months that we were told Patrick had quad cerebral palsy and global developmental delay.
At first we were relieved to be able to put a name to his condition but we soon realised that these labels too were just symptoms of a bigger problem.
When Patrick was two he was diagnosed as having a leukodystrophy, a brain disorder that comes with a very short life expectancy. Thankfully after another 18 months and further tests this diagnosis was reversed but we were no closer to understanding why Patrick was so poorly and had all these development problems.
As time has gone by Patrick has undergone further tests and was part of the DDD (Deciphering Developmental Disorders) Study a few years ago. This brought to light a slight abnormality in one gene so tests were then carried out on his brother. We found out that his brother (who at 14 has no disabilities or health problems) has the same gene mutation so they had to then rule that out as a cause of Patrick’s condition.
And that is where we are at now. Patrick has just turned 10, and despite still suffering with up to a dozen seizures a day is a very happy and content little man. He is wheelchair bound and is non-verbal with no real communication skills. He has a gastrostomy tube and is totally dependent on myself or a carer for everything.
He is currently part of the 100,000 Genomes Project which aims to look at every one of his genes that could perhaps lead to a new discovery and diagnosis, but for the meantime Patrick remains a medical mystery.
Over the years my need to know what we are dealing with has lessened. I think him having been misdiagnosed with such a frightening disorder early on has made it easier for me to accept that it’s ok to not have that prognosis I had so desperately searched for before. In the first two years of Patrick’s journey I spent countless hours scouring the internet, reading books, and joining forums in the hope of finding another child like him so that I might have some answers. I came close – I found a small handful of other parents with very similar stories to tell and I have kept in contact with these parents and formed great friendships. I have met other families through the local hospices who have children the same age as Patrick and over time, they have all received their diagnosis and been able to move forward with treatment or at least a better understanding of their child’s condition.
I found SWAN UK a few years ago through a friend of mine who encouraged me to join. It’s not a network I’d heard of before but I registered with them and joined their Facebook group and instantly started to relate to the posts that I saw from others just like me. It’s been nice to get to know some of the other families and share in their joy at new milestones reached or treatments working. But of course, there are also times of great sadness when a swan child has lost their fight. At these times the support we are able to give each other is invaluable.
I’m looking forward to attending the annual meet up at Paultons Park in a few weeks. We’ve been a couple of times before and it’s so great to be able to take Patrick along to meet some of the other amazing families and it’s a day when I really feel he is part of something very special.
Patrick is the only one of his close friends now without a diagnosis. It no longer bothers me. In my mind, it makes him all the more special and unique and if anyone asks what he suffers with I tell them he has a bad case of ‘Awesome’.
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