We had an odd weekend, on Saturday Livvy attended our local hospital but not for a normal routine dermatology appointment, Livvy volunteered to be part of the doctors exams. Livvy has been particularly excited about taking part and over the last month has asked me several times ‘when are those people going to look at me and try to guess that I’ve got XP?’ A smile would start to spread across her face with a sparkle in her eye. Livvy can be very mischievous and for some reason found it hilarious that people would be tested on their ability to diagnose her, something which many health care professionals still can’t understand when we try to explain XP to them.
Of course the doctors were being examined on much more than wether they could diagnose a person upon first meeting them with very little medical history. The way they spoke to Livvy and to us as parents, what information they could gain from looking at Livvy’s skin and their ability to convey what they see to other medical professionals.
We saw eight candidates in total, two actually said “xeroderma pigmentosum” but with hesitation in their voice almost like they didn’t believe it to be right. Some found Livvy’s 6 cm scar on her hand from her melanoma and identified it as such (a scar), others described it as a rash or abrasion. None identified Livvy’s current BCCs as such, even when they had decided that Livvy’s freckles are only in sun exposed areas therefore her condition must be sun related, they still couldn’t connect such a young girl to skin cancer. It was so interesting to hear the thought processes but yet still not end up anywhere near skin cancer or XP. Even the ones who did mumble XP the examiner asked ‘if we are looking at XP what would these be?’ Pointing out the BCCs that we had shown the examiner in the morning before any candidates saw Livvy, a blank expression came over their face.
All candidates were practicing doctors and these exams were for registrar status. At times in the past I have felt angry that Livvy’s condition wasn’t picked up sooner. Livvy also has a kidney condition which has meant she has been a frequent visitor to our local hospital since birth seeing paediatrician and kidney specialists. No one ever questioned Livvy’s freckles and I just wish one doctor had, which would have meant we got to see a dermatologist sooner and maybe we could have avoided so many skin cancers. This was my main reason for putting Livvy forward for the exam, if any of these eight doctors see a child with XP in their hopefully long careers and offer them a referral to a dermatologist then I’ve achieved my goal to help another family to not go through the pain of surgery and endless waiting by the phone for biopsy results.
In my mind if you come across a child with xeroderma pigmentosum in your registrar exams and you fail to recognise the condition or even offer the correct advice then you are going to walk away from that exam and make sure you know as much as you can about the condition that stumped you in your exam, I can guarantee none of them will forget that day or Livvy’s condition.
During the lunch break we stepped outside the hospital for some fresh air, Livvy as always danced around hanging from Phil’s arm fully protected with her gloves and mask on. The day was split in two halves with different candidates in the morning to the afternoon. As we stood outside the hospital doors we saw some of the morning candidates leaving the hospital, one saw us and came over, ‘do you mind me asking what condition your daughter has?’
Phil replied, ‘no not at all, she has Xeroderma Pigmentosum’
The candidate thanked us and continued on their journey as they left the hospital on their phone, I can only presume googling xeroderma pigmentosum (if they could spell it). The examiner told us that all candidates get feed back sheets with the patients condition, this one candidate clearly couldn’t wait and was intrigued to know what condition had put a brick wall right in the middle of their exam.
The best part of the day was when the bell rang to signal the candidates time was up, they said goodbye and thank you and left Livvy sat on the bed with Phil and I close by and the examiner filling out his paperwork. After every candidate I asked Livvy how did they do? ‘Thumbs up or thumbs down?’ She gave them all a thumbs up or a ‘I don’t know’ (as to not offend the not so good ones) she then did a demonstration as to how much they were shaking when they touched her skin.
‘That one was really shaking’ we all had to laugh at her as she held out her arms in front of herself and showed the level of shaking each one had. The examiner whilst laughing explained to Livvy how nervous they all are, asking if she was too, ‘no, look, I’m not shaking’
In between candidates Livvy would jump down from the bed and start dancing or performing some karate, as soon as the bell went to signal the next candidate was coming she would jump back on the bed very straight faced with her hands on her knees, rolling her eyes at me when she had to take her t-shirt off again. When they looked at her back and talked to the examiner about what they could see and possible treatments Livvy would look at Phil and I with a sparkle on her eye as she knew from what they were saying they were way off a diagnosis of XP or the correct treatment methods.
It certainly was interesting listening to what they thought and what they would do with regards to treatment and referrals. I think it’s helped me to see how difficult it is to diagnosis a child with XP, and how over the years Livvy’s diagnosis had been missed. Xeroderma Pigmentosum is so rare and not all children present in the same way, for example Livvy doesn’t burn or blister when exposed to UV light which would make a diagnosis even more tricky as what is typical for one child is not for the next due to the 8 different variants of XP. Hopefully there are eight more doctors out there now that have XP logged in their minds and will question any child that presents with any of the traits of XP following their doctors exams.