Around 4/5 years ago I was asked to come and photograph Sarah and her new addition Evie who was about 5/6 months old. Sarah explained that although they were still unsure exactly what was wrong, due to Evie only still being so young and awaiting tests etc. they knew something wasn't "as it should be" as well as the fact Evie was having fits, her eye contact, ability to hold her head up etc wasn't as expected at her age. I arrived at the family home to meet this beautiful little family and this big grey/blue eyed baby girl with a mass of thick blonde hair. The shoot was great, Evie did really well as did her Mumma (and black lab Lucy ;-). Sarah then invited me back when Evie was around 2/3 years if age, and by this stage it was clear that Evie had severe mental and physical disabilities which effected her in every way. Again the shoot went really well, the shoot was intimate, peaceful and we got some beautiful shots of Evie on her own, a couple of rare but precious smiles, and then the amazing relationship between her and Mummy. Evie had at this point very recently been diagnosed with a very rare condition called CDKL5.
This is Evie's story:
On Thursday 6th May 2010 at 4.17pm Evie was born.
At 5 weeks old things didn't seem right and Evie had her first seizure, it was very mild and short and Sarah was unsure what it was so rushed Evie to the emergency doctor. The doctor said it was her reflexes and was perfectly normal. Sarah and Evie's father weren't convinced so they took Evie to a hospital with a video of her 'fit ' (or "moment" as the Dr had called it) they booked her in for an EEG. The doctors came back and said Evie had epilepsy. After quite a few more weeks it was noticed that she wasn't making quite as much progress with her development as some of Evie's baby friends. The doctors prescribed Evie some medication to try but none of them seemed to stop the fits/moments. It was then decided it was time for Evie to be referred to Great Ormond Street Hospital.
After quite a few visits and test up at GOSH they still couldn't find what wasn't quite right. Then on Wednesday 30th May 2012 Great Ormond Street called and said something had come up, Evie had CDKL5. Sarah was heartbroken and very upset but Evie's beautiful smiles and gurgerly noises soon but the smiles back on her face. Evie has recently undergone a major operation to insert a pace maker to help control the fits.
WHAT IS CDKL5:
CDKL5 is a rare X-linked genetic disorder that results in early onset, difficult to control, seizures, and severe neuro-developmental impairment. CDKL5 is classed as a rare disease, however more and more children and indeed adults are being diagnosed every day.
The CDKL5 gene provides instructions for making a protein that is essential for normal brain development. Although little is known about the protein's function, it may play a role in regulating the activity of other genes, including the MECP2 gene (or Rett Syndrome). The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding oxygen and phosphate atoms (a phosphate group) at specific positions. Researchers have not yet determined which proteins are targeted by the CDKL5 protein.
Most children affected by CDKL5 suffer from seizures that begin in the first few months of life. Most cannot walk, talk or feed themselves, and many are confined to wheelchairs, dependent on others for everything. Many also suffer with scoliosis, visual impairment, sensory issues and various gastrointestinal difficulties. As time has gone on it appears that there might be other symptoms that play a role in the condition.
LIST OF MOST COMMON SYMPTOMS:
- Epileptic seizures starting in the first 8 months of life.
- Infantile spasms (in about 50%)
- Many different types of epilepsy usually including myoclonic jerks
- Hand stereotypies in the form of hand clapping, tapping, movements or mouthing
- Marked developmental delay
- Limited or absent speech
- Hypersensitivity to touch, for example dislike of hair brushing
- Lack of eye contact or poor eye contact, but may have intensive eye interaction
- Gastro‐esophageal reflux, and other severe gastrointestinal problems such as low gut motility
- Small, cold feet
- Breathing irregularities such as hyperventilation
- Grinding of the teeth
- Episodes of laughing or crying for what appears to be no reason
- Low/Poor muscle tone
- Very limited hand skills
- Some autistic‐like tendencies
- Cortical Visual Impairment (CVI), aka “cortical blindness”
- Eating/drinking challenges, such as refusal to eat and drink, as well as giving up altogether
- Interrupted sleep
- Characteristics such as a sideways glance, and habit of crossing legs
MORE ABOUT PUDS (EVIE):
Since getting Evie's diagnosis Evie has achieved many things and made some very special friends. She is currently on the Ketogenic diet which helps with her seizures and she has learnt to roll on to her tummy and back over, drink through a straw and make lots of lovely noises! Typically when growing up you are learning to hold your head, roll over, sit up, crawl, eat, stand and to walk. Rightly so we get excited when we see our own children and our friend’s/family’s children reach these milestones, it’s awesome! However for some kids, like Evie, these every day functions don’t come naturally so to help them achieve some of these normalities they have physiotherapy.
Evie attends Kids Physio Works who have a great team of physiotherapists that make the sessions fun and interactive whilst using different techniques to improve movement and function in children. With Evie they use the Therasuit, Spider Therapy and Core Strengthening, below is a little on each. Have you ever had Physio??? It's HARD WORK!! During physio Evie’s concentration face is a ‘classic’ as she grins and bears the effort and makes loud noises to ensure we know she’s working hard! Like the rest of us, she tries her luck at cheating in the exercises sometimes but the physios are on to her! Her favourite is the Spider Therapy.
I was so thrilled that Sarah invited me back to photograph Puds again, she is a beautiful little poppet and the two of them are an inspiration. I would like to wish Sarah and Evie the very best for their new start in their beautiful new home and I hope that their future us full of love and smiles.
How can you help? By donating to this page https://www.justgiving.com/eviescdkl5journey you will help to fund Evie’s physio, the target on this page is the cost for once weekly appointments and a 2 week block in the summer holidays (5 sessions a week for 2 weeks) for 3 years. The family & Evie take away lots of knowledge from these sessions & Sarah continues her physio at home.
Above are some shots from Evie's 3 shoots so far with me and below from her most recent shot this month.
Keep up the hard work Puds, your surrounded by love and incredible people........................the very best being your Mumma x x x