Diagnosis difficulties – a father’s experience

A picture of Fuad holding his daughter Shakila, both are smiling for the camera.
Fuad and daughter Shakila

If you follow Aniridia Network UK on Facebook you may have already read the story of Fuad and his daughter Shakila featured in these articles

Article in The Voice

Article in The Standard

Article in The East London Advertiser

Shakila was born with sporadic aniridia but was not diagnosed until she was a year old. We were dissapointed to hear it had taken so long for shakila to be diagnosed so we interviwed Fuad to find out more:
So when did you first notice a problem with Shakila’s eyes?

For the first few weeks we noticed that she would not open her eyes a lot, at around 2 and a half months, we indicated to the GP  that she did not recognize us or smile, because this was one of the milestones on the red baby book. We also noticed the black pupil, at one point I took out my lighter out and kept asking Shakila’s mum if she could see, but Shakila seemed to be following the lighter so I assumed that the colour of her eyes was the way god had intended. We also noticed she was squinting, sometimes one eye, sometimes in both. Looking back now I also noticed Shakila when taken out would hold her head on to my chest, as if she was sleeping or nervous of the outside noise. We also noticed in the photographs of Shakila that her eyes were coming out as silver. 
What diagnosis were you given?

The diagnosis was given when Shakila was 11 months old at a private clinic, the private doctor, at first asked us if, anyone had put a solution in Shakila’s eyes and had we seen anyone today, we told him no, he then explained that our daughter had Aniridia. He seemed amazed we came to see him, he kept asking why did we come to see him, what did we notice?  Before that .the only diagnosis we were told was that she had a lazy eye and that a patch would be needed after she was one years old.
Had Shakila’s eyes been examined previously?

Shakila had a check when she was born at the Royal London, she also had a 6 week check, which was done when she was 2 and half months old at the Tredegar Practice. She had passed all the checks and the GP had writing “no problem with the eyes”
How long did it take to ge referred to an opthalmogist?

Shakila was born on the 21st Oct 2008, the referral was done for a none urgent squint in June 2009, there was a problem with the hospital booking system so the referral was finally made for the 30th September 2009. We were told by the private doctor not to attend as this was a non urgent referral and to wait for his letter to Shakila’s GP. The GP then sat on the letter for a while and the first time we then saw a eye specialist was in December 2009.

When did you finally get a diagnosis of anirdia?

We got the diagnosis by paying for a private opthalmogist in August 2009, but it took a while for the GP to make sense of what needed to be done, even in October she still did not make any of the referrals to Moorfields and to Great Ormond hospital. I had to instruct her on what needed to be done.
How did this experience make you feel? Did you feel your concerns were taken seriously?

I am very angry with the system there are a lot of holes with the PCT and NHS, if I could read about aniridia in a day to know what needed to be done, why did Shakila GP seem clueless. I have also noticed that in the red baby book dates from when the health vistor noticed a squint and the dates the GP has on the system are completely wrong. The only way of both communicating is through a verbal team meeting once a day/week. It seems crazy in this day of age of protecting young children there is a massive flaw. I am also spitting mad that when I asked why did it take so long to diagnose Aniridia that the NHS that its easier to spot this condition in the pale eye than a dark brown eye. The bottom line is that if only the persons examining the eyes paid attention and not just assumed its only another check with another baby. Even now as I am asking questions and trying to create some honest discussion among the various CEO’s of the Royal College and the Strategic London Health Authority, I seem to hitting brick walls. This experience has made me now to not be afraid of asking questions to doctors and if I have a gut instinct on something to go with the gut instinct.           .   
How do you think the monitoring of children’s health could be improved to increase the chances of aniridia being diagnosed earlier?

 Yes I am trying to get the get the various organisations to develop a best practise guide when GP conduct the 6 weeks eye check and when the paediatrics also check the eyes at birth. Or failing that to get a opthalmogist to be conducting the eye checks. Also there needs to be a very simple messaging system set up between the GP and the health vistor so when things are spotted they act straight away. Writing things in the book book but no one but no one knowing what the other had seen or done is not a system that works.
Fuad is not the only parent to tell us their child was not diagnosed until a year or two after birth but we also know some other children are diagnosed very quickly. We would love to hear your comments on your own experience of diagnosis, good or bad. How old were you/your child when diagnosed? Who first spotted the problem, a doctor or family member? How long did you have to wait between a problem first being spotted and a correct diagnosis?
We hope to use your feedback to raise awareness of aniridia amongst the medical community and highlight examples of good practice we would like to see adopted UK wide.

About Aniridia Network

A charity support group for people with the genetic visual impairment aniridia and their families in the UK and Ireland. Our vision is that people with/associated with aniridia are hopeful, confident, supported and well informed regarding aniridia. Founded in 2000. First registered as a charity in 2011 and fully in 2018.
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2 Responses to Diagnosis difficulties – a father’s experience

  1. jane Bennett says:

    Our daughter also sailed through the newborn and six week check. We had suspicions as parents that something was not quite right. A GP in our family expressed concern when our daughter was 4 months old, we got her seen again by our own GP who then got her a consultant appointment fairly quickly, within about a month. Once we had a diagnosis, things then moved fairly quickly and we had an examination under anaesthetic (very stressful experience with a young baby), and a kidney scan, followed by paediatrician appointments to check development.

  2. Pingback: Diagnosis difficulties – a father’s success | Aniridia Network UK

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