Harley

Harley

Hi, I am Dawn Paterson and one of the Founder Trustees of Dravet Syndrome UK. I live just outside Chester in a small village with my daughter Hannah and my son Harley.

Harley’s first seizure happened on a first family holiday in France in November 2005, when Harley was just a baby. At the time the seizure was thought to be febrile as Harley was suffering with a cold and had just had his first jabs. We returned to the UK but a couple of weeks later Harley had another seizure and so our journey began. Harley was diagnosed with a deletion in the pore forming area of the SCN1A gene in January 2007. The delay in diagnosis meant that Harley was initially prescribed two drugs which are now known to aggravate the condition..

Harley‘s seizures continued to increase in volume and we tried out best with our neurologist to find the best combination of drugs. The hardest thing has been not being able to control the seizures with the medications on offer. It still is a roller coaster ride not knowing what each day or week will bring. In addition to thousands of seizures to date, Harley also has other co-morbidities which include prolapsed ankles, issues with temperature regulation and autistic behaviours.  

He has a few single words and communicates through his eyes, expression, sounds and leading adults to what he wants.  He did wear peidro shoes when younger but now wears off shelf high support boots which have softer leather and don't cause blistering and rubbing too much. We have been told that at some point it may be necessary for surgery to improve flat feet but to just wait till he shows signs of pain! We have noticed signs of early crouch gait developing. Harley also has a suppressed immunity and he struggles to regulate his body temperature. 

He likes a lot of sensory input and, aged 7 years old, was diagnosed as on the autistic spectrum. This did help us get more support and although we had to fight to get him assessed and diagnosed. He can be fixated for hours on one activity and likes to hold on to random objects as a comfort.  He loves posting things (usually anything he can find) in the washing machine and takes joy in watching the washing machine go round and round and feel the vibrations. 

Quotation

We continue to fight to get the right level of support for him and breaking down any barriers along the way

Dawn Paterson

Harley is currently at a special school in Chester.  We are continue to fight to get the right level of support for him and breaking down any barriers along the way and even in special school environment there are many barriers still to getting the correct balance of social interaction, life skills and communication support along with therapies that are needed to support Harley such as rebound therapy, music therapy, hydrotherapy and equine therapy.  Getting education health care plans up-to-date and maintained continues to be a battle with local authorities.  I seem to spend a lot of my time meetings with social, health and education professionals sorting out direct payments, respite support and fighting always to make sure that Harleys needs are met. This is the hard part for any parent, the continual fighting and justification and arguments to ensure that our children needs are met.  The need to look after ourselves often falls by the way and it is so easy to let ourselves fall into depression, and have days where we just can't function as worn out with it all.   Having the support of other families through Dravet Syndrome UK has made a world of difference to myself over the years knowing that there are others going through similar experiences and having somewhere to rant and let it all out from time to time is of huge benefit and relief.

Harley has experienced many types of seizures over the years but now mostly has nocturnal seizures which are short tonic clonic seizures lasting up to 2 minutes duration. He also has occasional non-convulsive, absences and complex partial seizures but these tend to occur when we are changing his AED medications or if weaning off a drug. 

Harley was on the Atkins diet for 5 years and did have initial success in reduction of seizures 70% when he started on it but after a while effects wore off. Harley has also been on drug trials of Epidiolex CBD for 2 years at Alderhey and was weaned off this 2 years ago due to it not having a huge impact on his seizure control.  For the last two years Harley has been on the Fenfluramine trial at Alderhey under Dr Iyer.  – this so far has seen the most significant reduction in seizures tonic clonic and has nearly removed all absences and non convulsive seizures. Harley is also on Zonisamide and sodium valproate as well and recently we have attempted to reduce Zonisamide but we found that by doing this complex partial seizures and absences starting to creep back so having weaned him down 3ml we have had to go back up again and this has been a positive move.  We did have issues with growth and weight increase at start of fenfluramine trial which is likely as it is a diet drug.   We have noticed that Harley appetite has improved in the last year and he is eating better now than ever before and although very slight for his age (13years and 25kg he is starting to show weight gain). We have definitely noticed a more alert and brighter little boy while on the fenfluramine.

Harley is such a fun loving, affectionate and sociable little boy who knows what he wants. He adores his sister Hannah and she is very protective of him. Our hope is that Harley will have same equal opportunities as his sister to be educated, have fun, take part in activities that encourage social interactions and where he is safe and most of all very happy.  For me it is also about remembering that as main carer I need to look after me too, have breaks, put myself first sometimes to ensure that I am both mentally and physically strong enough to take on the battles on his behalf as he grows into an adult.