3P25 Deletion Syndrome. - Today we welcomed back a two year old little girl for her second
assessment. She has an exceptionally rare genetic disorder known as 3p25 deletion syndrome. This is so rare that since the first person was reported in the medical literature in 1978, only around 50 people with a 3p25 deletion involving no other chromosome(s) have been described in the medical literature. Today after 10 months on the Snowdrop programme she had made some very significant developmental gains. Her visual ability has moved from the 4 month level to the 12 month level. Her auditory development has moved from the 8 month level to the 18 month level. Gross motor skills have improved from not even sitting, to standing against furniture, - she is well on the way to developing a standing balance. Language has moved from the 7 month level of babbling, to the 14 month level of possessing two words of speech, - 'dada' and 'go.' Socialisation has moved from the 8 month level to the 18 month level. It just shows that genetic expression can be fought against. Well done to mum and dad who have brought about this dramatic change!
Saturday, 6 October 2018
Tuesday, 2 October 2018
Today we welcomed a two and a half year old little boy back for his 5th assessment. He had been born 12 weeks early with fluid on the brain, a brain bleed on both sides, ventriculitis, and he contracted ecoli bacterial meningitis at 8 days old. He nearly died, he was having bad seizures, so much that his body was jerking off the bed and his mum and dad were told there would be long term effects of this meningitis as he was so sick. Unfortunately he got meningitis another TWO times. He had an MRI which showed brain damage and unfortunately he had to have a shunt fitted as the third bout of meningitis finally cleared up. The hydrocephalus was very severe and neurosurgeon mentioned more brain damage. As you may imagine, the prognosis for someone who has been through that level of neurological trauma is not good. So today was a joyous day because after 2 years on the programme we were able to discharge him as completely well! He now has the developmental profile which someone of his age who is uninjured would have and he is hitting all his milestones. He is indistinguishable from his twin brother. Well done to mum and dad, you rescued him!