Friday, 20 May 2016

Snowdrop, - A Week of Developmental Assessments. Week Beginning 16th May 2016

We had three assessments this week, on Monday we saw a 5 year old little girl for her fourth assessment. She has 'Phelan McDermid' syndrome, which is basically where a chunk is taken from chromosome 22, - it is quite rare and can produce all sorts of problems, but commonly comes through with autism type issues. I was overjoyed today when for the first time she walked into the room, looked me straight in the eyes, flung her arms around me and gave me a cuddle. Other improvements were both hands working cooperatively for the first time, spontaneous interaction, - she was constantly trying to involve me in her play. It was also good to see her and her little sister 'tussling' over possession of a toy, - a very natural, normal scene. we have a little girl who is beginning to emerge out of her bubble, - we have 'chinks in the armour.' Now to prize them open!

On Tuesday we saw a 3 year old little girl who does not have a diagnosis. She does have severe neurodevelopmental problems however and she was returning with her mum and dad for their first reassessment and what a stunning difference there was. Visually she has moved from the 12 month level to the 24 month level, with similar surges forward in auditory development where she is understanding much more language. She even produced independent forward movement when I placed her on her tummy. In fact there were improvements in every area of development. Yes, she still has problems, but is she moving in the right direction, - definitely! She is a concealed intelligence, but I can see her! Well done to all!

 On Thursday we received a two year old little boy who has developmental delay, for his third assessment and my, how he is coming along. When he first started the Snowdrop programme 10 months ago, his vision which is affected by optic nerve dysplasia was at the 12 month level. Now however, he is much more visually 'switched on' and is operating at more like the 30 month level. His auditory abilities which were at the very basic levels of a 3 month old baby are now at the 24 month level where he is understanding simple sentences, listening to stories and understanding what some parts of his body are called. His tactile processing problems are much improved and we are just starting to work on developing a standing balance, where before, he wasn't even sitting. He has made huge gains in every area since we first met. He is a delightful little chap with a great family around him.

Another very satisfying week!

Friday, 13 May 2016

Snowdrop. - A Week of Developmental Assessments. Week beginning 9th May 2016

We began the week by seeing a 7 year old little boy with ADHD for his second assessment. Such an intelligent, gentle little boy caught up in a whirlwind of his own hyperactivity, but definitely calmer than his first assessment and his attention definitely easier to capture. Sometimes it can take time to slow hyperactive kids down, but I feel we are making progress.

On Tuesday we saw a 4 year old little girl who has PVL and developmental delay. Today was her 7th assessment and although she still has significant problems, she is streets ahead of that 1 year old I first saw who was locked away within herself. She is using her vision beautifully to explore her environment, understanding more language, making choices, crawling on all fours and we are not far away from standing. Like me though, she is totally motivated by food!

On Wednesday we welcomed a 4 year old little boy for his 9th assessment. He has a diagnosis of severe cerebral palsy and was forecast not to live. Yes he still has many problems, but he is absolutely streets ahead of where he would have been and is thriving. His visual and auditory cognition have risen to where they will soon be at the top of the developmental profile, - he can sit, can stand with support and his tactile processing issues are resolved, as is his inner anxiety. His muscle tone is much improved and we now have 3 words of speech, (with many more to come I think). There is a massive difference in his awareness of and engagement with his environment and the people in it. It has taken a while and a great deal of hard work, battling against epilepsy too, to achieve all this, - but look how far he has come in comparison to that initial prognosis, which was as bad as it can get!

On Thursday, we welcomed a 7 year old little girl back for her 3rd assessment. Her diagnosis is cerebral palsy and CVI. Today I watched her visually steering her hands, taking the top off a pen and replacing it with great precision, which is great because hand function is also a problem. Visually and auditorially she is now 'switched on' and has visual and auditory abilities at the top of the profile, is trying to get herself into the 4 point crawling position and has an expanding vocabulary of words. A super assessment with a highly intelligent little girl.

We finished the week by meeting a great new family with a 20 month old little boy who has no formal diagnosis but what the medical people feel looks like developmental delay / cerebral palsy. He is such a bright gregarious little chap, I could have stayed there all day with him. Again, a little one with huge things going for him despite his developmental problems. A lovely way to end the week.

Wednesday, 4 May 2016

Mowat Wilson Syndrome

Today I saw one of the most incredible transformations of a little boy. The little one in question has Mowat-Wilson syndrome,  Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder include distinctive facial features, intellectual disability, delayed development and intestinal disorder

Mowat-Wilson syndrome is often associated with an unusually small head, (microcephaly), structural brain abnormalities, and intellectual disability ranging from moderate to severe. Speech is absent or severely impaired, and affected people may learn to speak only a few words. Children with Mowat-Wilson syndrome also have delayed development of motor skills such as sitting, standing, and walking.

We first saw the little chap in question 5 months ago when he was 15 months old, - he was not sitting, not crawling, not understanding any language, had poor hand function and was generally behind in every area of development. Today, after 5 months on the Snowdrop programme, I met a little boy transformed! He was visually and auditorially curious, understanding some language, sitting, crawling in a good cross pattern, trying to pull himself to stand and well on the way to developing a standing balance. His hand function was dramatically improved, to the point where he was using a pincer grip in both hands and trying to feed himself with a spoon. Dramatic gains in 6 out of 7 developmental areas, against the background of a genetic expression trying to prevent that! Not a bad start to the week and another little superstar is born!