Tuesday, 4 July 2017

Treatment of PACS1 Syndrome.

Today we welcomed back a 7 year old little boy for his 8th assessment. He has a rare genetic condition called 'PACS1 Syndrome.  This is a very rare genetic condition caused by mutation of the PACS1 gene. It is NOT inherited from either parent but it will be passed on to a patient’s child (“autosomal dominant”).

The first two cases were identified in early 2011 by doctors in the Netherlands. As of early 2017, there are just 40 cases that have been identified worldwide.

PACS1 children have the following issues.

  • most of our children have similar facial features such as similar facial features.
  • Widely spaced eyes and low-set ears
  • Down-slanting eye corners and mild uni-brow
  • Highly arched eyebrows and long eyelashes
  • Round “button” nose with a flat arch
  • Wide mouth with down-turned corners
  • Thin upper lip and widely spaced teeth

Other common traits the parents have seen:
  • Low muscle tone
  • Seizures (usually short and sporadic)
  • Repetitive stimulation (similar to Autism Spectrum Disorders
  • Sensory over/under sensitivity 
  • Motor planning difficulties 
  • Delayed physical and cognitive development
  • Chewing and swallowing diffculties
  • Digestion and/or bowel problem
  • Slower growth resulting in lower height and weight

However despite these problems he has made so much progress since we first started him on the Snowdrop programme in October 2013. Back then he was behind in visual cognition, now his reading is surging ahead and he is fully cognisant. He was also behind in auditory cognition but now understands language at age level. His tactile and gross motor skills have improved immensely and he is roughly where he should be in terms of gross motor skills. The most dramatic improvement however is in language production. for so long he was quiet and seemed withdrawn and at his first assessment only having the verbal abilities of an 18 month old. Today we couldn't keep him quiet and he produces a wide vocabulary and perfect grammatical structure. He has an impish sense of humour and he will continue to improve. His future is considerably brighter than when I first met him, but you can see the timeframe with which we have brought about this change? Yesterday it was 5 years, today it is 4 years, so all of you out there, stick with it! Well done to mum, dad and sister, who have 'swam against the genetic current' and are most certainly winning!

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