My name is Leanne. I live with my partner Jonathan, our daughter Katie who is 15, and our son Charlie who is nine. Charlie is our SWAN, meaning he has a genetic condition so rare that as yet we don’t have a name for it. Also living with us is our pet cat, Sherbet.
Charlie is nine-years-old and is a very cheeky outgoing little boy! Charlie loves spending time with his family and can get very upset when one of us is away – he loves routine and knowing where everyone is, including the cat.
We knew something was wrong with Charlie when I was pregnant. At 20 weeks, my blood test result indicated that Charlie was at high risk for Down syndrome, but then the hospital changed their minds and decided my dates must be wrong.
My pregnancy was awful all the way through – I was constantly sick, and tired. My blood pressure was always high and my feet (and the rest of me) were always swollen! Charlie stopped moving at 36 weeks and so I had to undergo an emergency C-section. After Charlie was born he couldn’t regulate his temperature so he was quickly taken away to the Special Care Baby Unit. At the end of the first day the consultant came and told us that he thought Charlie had Dandy Walker syndrome – he was 99% sure and gave us leaflets to look over, and we were just waiting on the test results to confirm this. After two days Charlie still wasn’t getting any better, he developed an infection that they couldn’t work out what is was so they gave him antibiotics as a precaution. Two days later all results were back – negative to Dandy Walker syndrome and negative to an infection. The antibiotics were stopped but within 24 hours he quickly went downhill again. They couldn’t explain this so antibiotics were started again. Charlie then started having seizures that they couldn’t control, so seizure medication was also started.
We spent three weeks in the Special Care Baby Unit, which was a roller coaster! Charlie would get better, come out the incubator, go downhill and go back into the incubator.
We had test after test and everything came back negative. Charlie was the sickest baby they had at the hospital, we had an MRI scan at two-days-old and they were talking of moving him to a larger hospital if things didn’t improve. This continued for the three weeks, until one day suddenly he turned a corner and they decided he was well enough to go home in two days.
Once we got Charlie home, things just sort of stayed the same. Life became very mundane, numerous medications, doctors appointments and more negative results. Charlie didn’t really develop at all during this time – he didn’t roll over, sit up or want to eat so I knew something wasn’t right.
When Charlie was born his sister was nine-years-old and she quickly went from being centre of attention to being put on the back burner. We couldn’t do much with her as we didn’t know when Charlie would next get ill. He would go from OK to seriously ill very quickly.
Katie soon adapted and was very protective of her little brother. She had a broken arm at this stage and the cast was due to come of the day after Charlie got released from hospital. She would only get it off if Charlie went with her!
Katie has lost friends as Charlie has grown up as not everyone knows how to treat him. The majority of her friends all love Charlie and accept him for who he is – there have however been a few that have fallen away…
We were constantly told Charlie would not do things such as walk, talk, eat, ride a bike, or use a scooter. Charlie has proven all these consultants wrong from walking into his physio appointment to eating a McDonalds! He can ride a bike (with stabilisers) and he can go on his scooter. His sheer determination to do these things shows through all the time.
Charlie will decide he is going to do something and nothing will get in his way until he does it.
Katie is Charlie’s biggest supporter, constantly cheering him on and sticking up for him when needed.
Charlie is fairly stable at the moment, but that has not always been the case. We have had years of numerous invasive tests and appointments. We have lost count of the number of general anaesthetics he has had and operations, from bilateral hernias to fixing his hypospadias. He has had to endure having his fluids thickened, not being able to eat fruit (it produced too much liquid), eye drops, scopes and barium swallows. The worst however was brain surgery. Charlie had a fall at school and developed a bleed on his brain. He had two holes drilled in his skull to drain the excess fluid and spent a week in hospital with drains in and it needing to be ‘tapped’ throughout the week. Most people would spend the week lying in bed feeling sorry for themselves, not Charlie, he found another little boy on the ward and they bonded over their love of Scooby Doo and quickly started tearing around the ward – much to the consultant’s amusement!
As a family we have had to become stronger.
We don’t know when our next hospital admission will be or when our next bout of illness will come. We have had to overcome remarks from other families and losing friends. However, our extended family are brilliant and all accept Charlie for being Charlie.
When I see how much of a struggle daily life can be for Charlie my heart breaks a little more. Then he will do something (sometimes very trivial like learn a new word or a cheeky comment) and my heart just swells with pride for him. When I hear that his sister has stood up to others in school for making derogatory remarks, I know they will both be fine. The love they have is immense and I really couldn’t be prouder of both of them.
SWAN UK is a lifeline for us. Until I had Charlie I did not realise you could be undiagnosed. It was a passing comment made by our speech and language therapist that told me this! She said the doctors don’t know everything, they don’t have all the answers and sometimes you do not get a diagnosis.
Having SWAN UK is really amazing – knowing that there are other families in the same situation as yourself is just amazing. Whatever happens there is support there from people who won’t judge you. That is invaluable.
Being part of SWAN UK and listening and meeting other families has given me a lot more confidence! I know now that I know my child better than any doctor or consultant. After speaking to others, I have pushed for other tests that would not have been offered. We have stepped out of our comfort zone, gone on days out with other families and learned to accept our family the way it is.
Having an undiagnosed child puts a huge strain on a lot of things. Both myself and my partner are very lucky that we have understanding employers and we can work from home when needed. We can have a lot of appointments within a short space of time and illness can occur frequently. Family time is tricky as Charlie takes up 24/7 of someone’s time. This means when we go out as a family someone is always on ’Charlie watch’. We rarely go out for meals as it can be too stressful with Charlie – he needs to eat and go! If one of us is cleaning the house or doing DIY, the other must be with Charlie. This restricts what we can fit into a weekend and what normal weekend chores we do.
Although a diagnosis would not change Charlie, it would help make life easier in a lot of ways. We could access more facilities without the daily struggle, for example, I had to fight for three years to get Charlie nappies for his incontinence because ‘he has no diagnosis’, and again to get flu jabs, as according to our GP ‘technically there is nothing wrong with him’.
The future terrifies me! What will happen as Charlie grows up? Will he live independently? What happens when we are not around? Who will look after him? It’s a massive burden to put on his sister.
So although that allusive diagnosis won’t make a huge difference to Charlie, I feel that it will help people in the future. It would answer questions if it was a hereditary condition. Would Katie be at risk of passing anything on? What is the future likely to hold? So many questions…