Ceili (Kay-lee) was born on 20th February 2010 at 12.33am. She was my second beautiful baby girl. She was fashionably late being 7 days overdue and a healthy weight of 6lb 9oz.
She suffered from colic for the first 4 months of her life, and we kept hoping for the day she would be free from pain, but at 15 weeks old, 4.00am on June 5th, we woke up to Ceili having her first seizure.
It was 25 minutes long and she had a temperature of 39ÂºC. She was rushed to A&E via ambulance and stayed in hospital for over a week undergoing a series of horrible tests and examinations, including 3 lumbar punctures, x-rays, an MRI scan, ultrasound scans, and multiple blood and urine tests. The doctors found no cause to the seizure and diagnosed it as a febrile convulsion. We were told it was a one off event and very unlikely to happen again. We returned home, relieved and thankful that Ceili was okay, looking forward to putting this horrific experience behind us.
Butâ€¦ 4 weeks later, in July, Ceili had her second seizure. It lasted for 20 minutes, but this time her temperature was a normal 35.6ÂºC. Again she had a long stay in hospital, and again after many tests, Ceiliâ€™s doctors could not give us a reason for the seizure.
3 weeks later, Ceili had her third seizure. It was then she was diagnosed with un-explained epilepsy, but it was not until her fourth seizure that she was put on her first medication (Sodium Valporate), but unfortunately this did not stop her seizures, they continued to get longer and closer together.
In October, Ceili was referred to the John Radcliffe hospital in Oxford. By November 2010, her neurologist arranged further investigations into the cause of her unexplained seizures, as well as putting her on a second medication, Carbamazepine. Instead of improving Ceiliâ€™s situation, this medication caused her to have 13 seizures in just 4 weeks, all of which were extremely serious and lead to lengthy hospital admissions.
Thanksfully, the decision was made to stop the Carbamazepine in December, and replace it with Keppra. Due to the complicated side effects of anti-convulsive drugs, it takes at least a month to wean off one and gradually implement another, so it wasnâ€™t until January that things were slowly beginning to improve.
We received the devastating news that no parent should have to hear. All these months we were clinging to the hope that Ceili would one day out-grow her epilepsy. On 4th January 2011, one sentence from the neurologist destroyed all our hopes for her future.
We were told that she had an SCN1A genetic blood mutation, and that she would never grow out of her severe and uncontrolable epilepsy, and that her future was unclear.
We now know that Ceili has Dravetâ€™s Syndrome, and the realisation of what her future holds is unbearable. Not only have we grieved for the childhood we thought Ceili would have, weâ€™re in constant fear of losing her completely. We already feel that she is being slowly taken away from us.
A seizure can kill our precious baby any day of her life, and SUDEP (Sudden Unexplained Death in Epilepsy Patients) can take her away from us at any night of her life. Weâ€™re completely helpless and powerless towards it.
Everyday things such as going to nursery, playing on her own or outside, sleeping without monitors and going too far from home or hospital are just a few things that are unthinkable for us and Ceiliâ€™s safety. When she catches even a common cold, she goes through life-threatening torture. Sheâ€™s had 25 courses of antibiotics in 23 months and every time she has to take them, she has to tolerate rashes so bad that she blisters and bleeds and suffers from severe stomach crampsâ€¦Yet more pain for such an innocent child to go through. Not to mention the fact one day they probably wonâ€™t work for her anymore as a result of how often she is taking them.
Ceili is now 2 years old and is considered to be mildly developmentally delayed, but we are told on her regular hospital appointments that this will become more and more severe. Seizure wise Ceili is at the severe end of the spectrum, her seizures have deteriorated dramatically in the last 6 months. Ceili can no longer go outside or into rooms or shops with bright lights due to severe photosensitivity, having showers or baths are a rare treat for her now as they are almost always followed with long life threatening episodes. Her shortest fit has been 1 minute (only 30 being around this short length), and her longest has been a painful 6 hours and She has been intubated in intensive care on four occasions, twice for 17 hours for a seizure that could not be stopped and for a collapsed lung and pneumonia and once for a short three hours for a common gastric flu, these were the worst moments of my life as it is well known to us â€˜Dravet familiesâ€™ that many of our children will never wake up when they have reached a coma state. She has had over 150 seizures, and is at the inevitable worse stage of her condition with multiple seizures a day, new types of seizures becoming easier to trigger, more prolonged and extremely difficult to stop. Most of her seizures now start with screaming but a scream that is like no other, as if she is being tortured or is petrified of what is about to happen.. its extremely upsetting to see.
We have noticed some regression in development, including speech, fine motor skills, visual cognition, balance, an understanding of safety, ability to concentrate, and losing skills after prolonged seizures but thankfully she works extremely hard to get her skills back. We know that even if we can get Ceiliâ€™s seizures under control her development is still going to deteriorate severely in the next three years, all we can do is pray her pain is lessened and be grateful for having such a wonderful child in our lives.
Despite all of what she is put through, Ceili is one of the happiest, most beautiful and loving children we have had the honour of knowing and loving. She always offers kisses and cuddles to everyone she meets, even to the Doctors who regularly cause her pain with their many injections! Every parent would agree that their child is special, but we can honestly say that Ceili is a light in our lives, driving us through this hurricane of events. Itâ€™s ironicâ€¦ Itâ€™s Ceili that keeps us on top of things, yet itâ€™s Ceili who is being pulled under.
We still donâ€™t know all there is to know about Dravetâ€™s syndrome, but the more we learn the more we get crushed, which makes us more determined to do all we possibly can to give Ceili the best and longest life possible. There are various monitors and medical equipment that we could have at home to improve Ceiliâ€™s chances of a longer healthier life, but they are extremely costly and weâ€™re working hard to get what she needs.