» Eyes

Children and parents ‘most important’ – not the doctors

BrushNot only is Great Ormond Street’s Dr Ken Nischal one of the world’s foremost children’s eye specialists - he also happens to be a great communicator and -as an added bonus - he knows precisely how to talk to the parents of CdLS children!

Dr Nischal raced to the conference after completing a difficult transplant at Great Ormond Street but stayed on after his presentation to meet the huge demand of parents who wanted one-to-one meetings with him. When he left he was bubbling over with enthusiasm about some of the things he’d discovered simply by examining CdLS children and talking to their parents.

Having worked with SAC member Dr Alex Levin at Toronto’s Sick Children’s Hospital, Ken Nischal has seen a number of children with the Syndrome over the years. And he won parents over straight away by stating that in all cases, it’s the parents/children who are the most important elements of the treatment equation...not the doctors!

He explained that CdLS children frequently experience a wide variety of difficulties with their eyes, although he pointed out that some of the lists created are confusing because none of the potential problems are unique to the Syndrome.

Like many other professions, medicine is rife with words that aren’t in everyday usage and Dr Nischal explained some of the medical terms most relevant to CdLS children.

  • Blue Sclera - the white part of the eye is blue/slate grey in colour
  • Telecanthus - eyes widely spaced
  • Hypertrichosis - excess hair on the brow
  • Synophrys - eyebrows joined
  • Ptosis - droopy eyelids with no lid crease. The levator muscle in the forehead, which operates the eyelids, may not be formed properly
  • Optic nerve pallor - the optic nerve is too yellow and not ‘peachy’ as it should be
  • Nystagmus - wobbly eyes
  • Myopia - short-sightedness which is common in CdLS
  • Poor macular reflex - affecting the fine detail part of the retina
  • Astigmatism - long-sightedness
  • Strabismus - squint
  • Lacrimal anomalies - tear ducts not operating effectively
  • Micro-cornea - small, badly formed cornea
  • Blepheritis - irritation of the eyelids
  • Saccadic initiation failure - lack of horizontal eye-movement
For instance, he said, I’ve seen CdLS children where the lens part of the eye is too thick - but is this a symptom of the Syndrome? It’s also true to say that people with major short-sightedness tend to suffer from detached retinas so it’s a good idea for parents to watch out for any behavioural changes because the symptoms can be difficult to pick up in developmentally delayed children.

His advised parents not to be ‘fobbed off’ by doctors and specialists. “If you believe that something’s not right, then ring your nearest ophthalmic department in a large city hospital and ask to speak to the nurse specialist. They’ll be delighted to help...!

“CdLS children suffering from droopy eyelids find it difficult to walk because they’re holding their heads back so that they can see...and I’ve heard specialists deny that this is the case. So don’t take no for an answer...be tactful and suggest a second opinion and my guess is that they’ll jump at it! This condition is often treatable with an operation so make sure that you know all the options to help you to make an informed decision.”

And although it’s important to treat eyes with care, Dr Nischal recommended ‘lid scrubs’ where irritation - blepheritis - is present. “I’d use a clean flannel or a cotton bud with a drop of baby shampoo in warm water and this often works wonders,” he explained.

“The secret,” he said, “is to find an ophthalmologist you trust and who KNOWS about CdLS. So ask them if they understand the Syndrome. The culture for the education of doctors is going to change in the UK to become more like the USA where doctors don’t always expect to be right all the time. This is healthy for both the profession and for patients so don’t be shy about challenging decisions.

“Chances are that the consultant or specialist concerned will be only too happy to pass you on to someone who knows more about CdLS than they do!”
 
Reaching Out newsletter
October 2000