Our Personal Story

Evie is our beautiful four year old who is suffering from a rare condition called Juvenile Xanthogranuloma or JXG.

More information on Juvenile Xanthogranuloma (JXG)

This disease normally affects children and manifests itself as benign tumours on the skin but very rarely (1 in 10,000,000 cases) it can be systemic and form tumours on internal organs. In Evie’s case it affected her central nervous system and glands in her brain as well as her skin. It also damaged her retinas and optic nerves causing her to be blind in one eye and have reduced vision in the other.

She was initially diagnosed in Hull when she was 2 and was sent to Oxford for a 2nd opinion. They referred her to Birmingham Children’s hospital under a fantastic Ophthalmologist called Mr John Ainsworth. He carried out extensive tests on Evie and the key tool he used in his diagnosis was a RetCam 2 camera. This showed the extent of her eye disease and how it was progressing.

Evie was then seen at Leeds General Infirmary under the care of a brilliant oncology consultant, Dr Susan Picton. Although the disease was not classed as cancer, it was generally accepted that this family of diseases know as Hystiocytosis, should be treated with chemotherapy.

As this disease was so rare, there were no real standard protocols for treatment but this point proved to be the start of a close and integrated working relationship between the family, Mr Ainsworth at Birmingham, Dr Picton and the rest of the oncology nurses, support staff and Candle lighters volunteers at Leeds.

Evie started on a chemotherapy drug called Vinblastine together with high dose steroid Prednisone, and after nearly a year on this medication, it was apparent it was having no effect.

The key to this diagnosis were the quarterly visits to Birmingham and the RetCam camera.

A watershed time came when Evie was 3 and the team at Leeds were unsure how to progress. The family were given 3 options:

  1. Carry on with Vinblastine/steroids.
  2. Try something new.
  3. Stop all treatment.

Fortunately, a small number of children had been successfully treated for this disease by a Dr Ken McCLain in Houston, Texas. After Dr Picton contacted him, he recommended to try the chemotherapy drug Clofaribine. This drug is used in the UK (Evoltra) for acute Lymphoblastic Leukaemia, but had never been used here for JXG.

It was not licensed or approved for use in the UK and it was also very expensive. Dr Picton went out on a limb and successfully put a clinical business case forward to the hospital governors at Leeds and approached the Clinical Commissioning Group in Hull to approve funds. Both groups approved the use of the drug and treatment started soon after. This was a fantastic result in itself and all credit should go to these groups for their bold decisions.

It soon became apparent the new drug was a different kettle of fish to Vinblastine. Evie was soon hospitalised through significant side effects. Her white cell count plummeted to zero and she soon started picking up serious infections. She did keep her beautiful hair though! At one point on her 3rd birthday (spent in isolation in Leeds General), we thought we were going to lose her.

This was a low point, but within 2 weeks it was obvious the drug was having a dramatic effect. Her skin lesions rapidly disappeared and it halted any further sight loss. The families decision was to push through these adversities for the sake of the long game, but a lot of soul searching took place around this time.

To see someone so precious to you enduring all that suffering was heart wrenching but, once again, regular trips to Birmingham and RetCam imaging clearly showed improvements in her remaining sighted eye. The RetCam was crucial to us at this point for the family and the medical team to be able to make informed, qualified decisions.

At the moment, Evie is in remission and is having regular checks in Hull having been discharged from Birmingham. But she is not cured, we take it one day at a time. She is however back to her normal boisterous self and looking forward to a trip to Blackpool to see the lights! We cannot tell you how much that last sentence ‘to see the lights’ means to us.

Although she is now old enough to sit at a normal adult type camera, regular RetCam sessions for Evie throughout her treatment period proved to be crucial in her care management plan.

We are talking from first hand experience here of RetCam cameras and we think we have a unique perspective on how critical they are for diagnosing eye problems in children and babies and in Evie’s case, was instrumental in preventing her from going totally blind.

The family and Evie will never be able to thank the NHS enough for the magnificent care and support we have been given over the past 2 years and providing a RetCam to Hull & East Yorkshire Hospital is our small way of saying a big ‘Thank You’.

In our opinion, there is too much negativity placed at the feet of the NHS. Yes, it is not perfect, but in Evie’s case the NHS more than stepped up to the mark!

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