Your medical professionals will have already pointed out what makes your child 'unique' - no doubt non-stop tests and surgery will have been part of your lives for a while - if not years.

The following are the main symptoms of WMS  - often used as a diagnostic tool before genetic testing / confirmation:

  • Congenital Bilateral Cataracts (born with cataracts in both eyes)
  • Microphthalmia + Microcornea (small eyes with a cornea horizontal diameter of less than 10mm - visible as a small Iris area compared with other children)
  • Small Atonic Pupils (pupils that do not react very much to light or dilating drops)
After cataract surgery, Parents are naturally most concerned with the level of sight their youngster will have - the medical publications will say things like 'progressive optic atrophy' and 'cortical visual impairment' but the truth is no one knows - as we can't see what they see ! 

MRI Brain Scans also show the following consistent features (these signs can be missed on early scans though - as in our daughter's case):
  • Postnatal (rarely congenital) Microcephaly (smaller than average head size)
  • Polymicrogyria of the frontal and parietal lobes (lots of folds on the frontal and parietal areas of the brain)
  • Hypogenesis of the Corpus Callosum (underdevelopment of the corpus callosum area of the brain) 
Your Professionals may have also mentioned terms like Complex Hereditary Spastic Paraplegia ... including SPG69 (linked with RAB3GAP2)

All of these symptoms may influence what your child will be able to do BUT no one knows what the brain is capable of - particularly in a WMS youngster - they adapt and compensate - NEVER underestimate a WMS Smiler ! 
There are also common facial, hand and feet features which we are now able to document in our Group (along with height, weight and head circumference data to produce our own WMS Growth Charts) so they are available for future Research via our very own WMS Patient Registry. 
The Care Programmes our children get is vital to their long-term comfort and development - physiotherapy; occupational therapy; specialist play therapy; orthotics; botox; surgery; dietary advice; tube-feeding; pain relief, etc..
As a Parent you will want to do your very best for your child and making informed decisions with the shared experiences of our Group makes it slightly less daunting. As the condition is so rare remind your Medical Professionals that whilst they may be 'similar' to other conditions (eg. cerebral palsy) THEY ARE UNIQUE.
Feel free to quote our experiences to them - it is only by sharing our pool of information that we will improve the practical prognosis for our youngsters.

They won't be the same as an 'average' child - they will be themselves !