Thank you for visiting Eva's fundraising page, here is a little about Eva and how we came to be fundraising for PCDH19;
On October 6th 2009 at 6.05am life changed forever for Eva and our family. Eva was just 8 1/2 months old when I was woken by a low pitched sort of growling / gurgling sound (that noise I now know to be the air leaving her lungs as she turns blue during a tonic clonic seizure). I woke Eva's Dad who was closest to her cot, he looked in, grabbed her and screamed for me to call an ambulance. I had never seen a seizure before, I thought she was choking and couldn't breathe, what followed that first seizure was a 16 day nightmare.
During that time Eva had just over 200 seizures, we spent 5 days in Musgrove Taunton our local hospital but after numerous blood tests,(her arms and legs were so bruised from all the tests and IV's) a CT scan and an MRI scan, a lumbar puncture and a variety of epilepsy medications Eva was still having seizures needing oxygen with every one, to avoid starvation of oxygen to the brain and possible brain damage. After a lot of consultants scratching their heads they decided to send us in an ambulance along with an paediatric consultant and a HDU nurse to Bristol Children's hospital.
The next 11 days were awful, we saw consultants, doctors, nurses and medical students hoping someone would see Eva, listen to our experience and say 'ah yes I have seen these sort of seizures before she has ......' but nobody did, they tried different medications, different combinations of epilepsy medications, nothing stopped the seizures.
During those 16 days Eva looked drunk from all the medications, she no longer recognized us, stopped saying the few words she could say and then went deaf, we were later to find out Eva wasn't deaf but her body was zoning out due to the stress and trauma of all the seizures.
We left hospital on October 22nd, Eva's seizures had tailed off and stopped after she was given an adult version of Phenobarbital by mistake, which had high alcohol content. Eva vomited and the seizures stopped, very strange coincidence, but our ordeal was over. We returned home with a different daughter, some epilepsy drugs and an oxygen tank.
We have had 25 more epilepsy clusters and hospital admissions since then, always blue lighted into hospital as she stops breathing. In March 2013 we received a diagnosis of PCDH19 (girls clustering) epilepsy. Since having the diagnosis it has helped us as we know that Eva will not be growing out of this condition, it is genetic and it is nothing we did wrong to have caused it.
Apart from the seizure clusters that come with PCDH19 there is also behavioral issues, Eva has autism and OCD anxieties.
Eva is now 7, she has learnt to swim with a 1 to 1 tutor in the pool, she has been awarded 2 swimming badges, Eva can read brilliantly, she passes a book quiz after reading each school book to show her level of understanding and retainment of information, she has always loved books even before Eva could read she would memorise the story and say it back to us, turning the pages at all the right words,
Eva is an amazing child, she loves singing and is a member of the school choir, performing with them in the run up to Christmas, She loves trampolining and dancing, she enjoys riding her bike and tries her very best at everything, Her favourite place is the beach, throwing stones into the sea and dodging the waves beneath her feet.
With fantastic 1 to 1 school support Eva is at mainstream school, which we hope will continue, she has an amazing memory and can remember every country in the World on maps and globes. She is so happy and popular with other children, she bounces like Tigger a lot of the time, she is so excited and loving yet in the past, on some of the medication, she would scream if she was touched, the effect it has had on my other 3 children is huge, though I am so proud of the way they cope with the stress of our lives, it has made them resilient individuals... Jack has awoken to an ambulance crew and then gone to school and sat GCSE exams, Amelia wakes up and wonders if I am at home or in hospital and is sometimes met by ambulance crew in the hallway and Ethan (Eva's twin brother) once sat at her empty cot bed crying with 1/2 banana asking where Eva was, ......if I gave them a banana as twins they would break it in half and go and find the other twin to share/give the other 1/2 to.
Our biggest hope is to raise money and find a cure, every £1 / $1 helps, also to spread awareness so that families receive early diagnosis allowing them to gain information about their child's condition and for consultants to know which drugs work more effectively for PCDH19.
Our mission is to improve the lives of children and families who are affected by PCDH19 Female Epilepsy. The PCDH19 Alliance focuses on raising and directing funds to scientific research with the goal of finding better, more effective treatments and ultimately, a cure; providing information and support to affected families; and assisting the efforts of the medical community. So that no family suffers without a diagnosis and the most appropriate medical treatment.
Your generous donation is critical to help us continue to vett and fund quality research that will lead to better treatments and stop the chronic suffering and the life threatening seizures these children and adults endure. A smaller portion of your donation also goes to help us raise awareness, so physician's can give a proper diagnosis, and last, we proved assistance in the form of support groups, teddy bears for our hospitalized PCDH19 children, and a very small Patient Assistance Grant Program to provide life saving durable medical equipment, including seizure detection devices.Join me in supporting real change. Let's support good in the world and make a difference. Help us find an effective treatment and ultimately a cure for PCDH19 Alliance, while we support children and families fighting this disease today through our patient assistance grant program.
Just a small donation will go a long way to helping me meet my goal for PCDH19 Alliance