Experts are still on the fence on whether Histiocytosis is a cancer or not, it is however treated as such.
Evie’s mother, Sarah Thompson, explains the difficulties of getting something extremely rare diagnosed.
Name: Evie Violet Hewitt
Age at diagnosis: 2
Diagnosis: Juvenile Xanthogranuloma (JXG) Histiocytosis
Additional info: Evie’s ocular involvement was almost unheard of, because it effected the back of her eye, not the front.
From around six months old Evie started to get strange spots on her skin, they seemed to affect her head mostly. Although they were strange they didn’t seem to bother her and they more or less disappeared by themselves, so we didn’t think much of it. A few months before Evie’s second birthday she started drinking a lot, I was taking litre bottles of water to bed with us and moved her back into my room so I could be up with her every hour or so filling her bottle and changing her bed, concerned about diabetes I took her into hospital for tests. The tests came back clear, I was told it was habitual drinking and honestly was made to feel like I was over reacting, so with that I took the doctors word for it and struggled on with her extremely excessive drinking.
Around a month after her birthday she had a fall at home, nothing major she had a little cry but got up and carried on like normal, until later I saw her right eye was turning out, I just put it down to her being tired but it started getting worse. My dad was concerned as he works in the eye hospital, but did say it was probably a squint and they are fairly easy to correct. I took Evie to the doctors and explained about her fall, the doctor insisted I took her to A&E as it could be a bleed. I could tell the nurse at A&E thought I was over reacting so again I felt stupid, thankfully they did an urgent referral to the eye hospital a few days later.
I will always remember the eye hospital appointment, we went into a room and the lady did a few checks and then quite matter-of-factly said I’m sure she’s blind in her right eye. This was a shock as I was expecting her to say a squint! With that we were sent to a different room filled with doctors, by now Evie was agitated and scared, so the doctor told us to come back for an examination under anaesthetic (EUA) a few days later. Straight after this appointment, we went to see a dermatologist about her spots, who again made me feel stupid by saying, I shouldn’t be worried about them as they are a common virus called molluscum contagiosum and will go away in their own.
When we went back for the EUA, the ophthalmologist told us that she had a birth defect in her eyes but not to worry, although to be sure he wanted to send us to Oxford for a second opinion. Literally a week later we arrived in Oxford to an extremely hot and packed eye clinic, I wasn’t overly worried as the amount of times I had been made to feel like I was over reacting at other appointments. Finally, we went into see a lovely ophthalmologist, he was kind and extremely patient with Evie, after checking her eyes (she sat extremely well) he told us he believed she had retinal blastoma, now he didn’t even need to say the word cancer for me to instantly know what he was talking about! With that he was on the phone to the retinal blastoma clinic in Birmingham and booked us in for a few days later. I just felt numb, from feeling like I was over reacting, to saying cancer, I can’t even describe the feeling.
In Birmingham, Evie was put to sleep and examined, the results showed that she didn’t have retinal blastoma, but something the ophthalmologist wasn’t completely sure on. Once again, we were told to go home and go back to Birmingham in a week or so for laser treatment. Back in Birmingham we saw a different ophthalmologist, he told us he didn’t think it was safe to laser her eyes, so he ordered a biopsy for her spots and a water deprivation test back in Hull.
The water deprivation test was horrific, Evie wasn’t allowed to drink anything and needed bloods taken every half an hour. The cannulas kept failing as her veins were collapsing and as for not drinking, she was like when a heroin addict can’t get drugs. All Evie was doing was crying and when she went to the toilet, she tried licking the sink to get the left-over water from the tap, because she was that desperate for water. Myself and the nurse were crying with her as it was awful to watch her suffering. At the end of the test she was diagnosed with diabetes insipidus, the doctor had never had a positive test for it so was surprised at the outcome. Diabetes insipidus is nothing like the normal diabetes, it’s were the body can’t retain water, so she was put on Desmopressin (DDAVP), a type of drug that’s given to children to stop wetting the bed and the improvement was unreal! It completely stopped the excessive drinking and weeing.
We were back in Birmingham, where the biopsy showed JXG an extremely rare disease that normally just effects the skin, unfortunately for Evie, it was not only her skin but it was attacking her eyes and systemically, or more specific her central nervous system, it was the damage to her pituitary gland that was causing the diabetes insipidus. Due to human error, an endocrine doctor in Hull had put her on a very high dose of DDAVP, her body had held onto too much water that had started flooding her lungs, fortunately the doctors were amazing and she recovered quickly, although we were admitted into Birmingham children’s for a week. so they could work out the right dose of medication and have a more in depth MRI scan, unfortunately that meant constant blood tests for her.
A day or so before she was discharged, a professor in paediatric oncology came to see us to tell us Evie would be put onto chemotherapy and will have her treatment in Leeds. With that my world collapsed, my family were hundreds of miles away and I couldn’t have felt more alone if I’d tried. Luckily the hospital said we could have a few days at home before being admitted back into Leeds for further tests, to have her port fitted and to prepare for the chemo. In Leeds we found out that there was no proven treatment for JXG as it was so rare, she started on a chemo/steroid (vinblastine and prednisone) mix for another type of histiocytosis called LCH.
With constant monitoring in between Leeds and Birmingham, as the only way we could monitor her progress was using a machine called a Retcam in Birmingham Hospital, we found the chemo after her being on it for six months was making zero difference, she kept getting the JXG spots and her left eye was still active with the disease, unfortunately by this time we knew the retina in Evie’s right eye was completely detached so there was no saving her sight.
After many meetings with Evie’s oncologist Sue Piction, we decided a new treatment plan was needed. My dad had committed his life trying to find an alternative treatment for Evie, he had discovered a doctor called Mr. McClain in Texas, he recommended a chemotherapy called clofarabine. Clofarabine is known as a salvage drug for leukaemia, that means if so many other drugs don’t work then this will be used as a last resort as it’s extremely hard hitting and extremely expensive. The drug had never been used on this type of disease in England before, so Sue had to make a case and present it to the NHS governors to see if they would authorise its use and then to apply for the funding from the NHS board in Hull.
After what seemed like a life time (which was no more than two weeks) the drug and the funding had been accepted! Evie started the treatment the following Tuesday. It was horrendous, she was constantly poorly and in constant pain, Hull hospital didn’t know why and eventually discharged her only for her to be readmitted to Leeds a few hours later, to be put on morphine and a NG tube fitted. This was the lowest point, she was vomiting blood and poo and she couldn’t control her bowels, she was diagnosed with ulcerative colitis and spent weeks in hospital unable to move. After that, we all knew she couldn’t continue on the intensive clofarabine so she was put onto a lower dose and cut down on the days. She handled this a lot better and after just over a year, we were told she was in remission.
Treatment finally stopped in February this year (2017). Evie will always be blind in her right eye and will need constant monitoring to make sure the disease doesn’t come back and take what remaining sight she has in her left eye. JXG has left her steroid dependant, she will also have the diabetes insipidus for life. She will be fitted with a prosthetic contact lens on her blind eye to help stimulate the growth of her skull too, because her eye has stopped growing so that’s stopped the development of her eye socket.
JXG effects 1 in 20 million systematically and Evie will have to live with the lasting effects for the rest of her life but it’s made her the gorgeous funny little girl that she is and I couldn’t be prouder of her.
Learn more about Evie, and how her family are fundraising for a Retcam for Hull Hospital: