Thursday, 21 January 2010

Insoles & X-Rays

Harry is going to have some softer, gel insoles made, instead of the hard ones that were causing him so much discomfort. Also results showed that the x-rays look ok, although his physiotherapist did think that the spaces between the discs in his neck were wider than they should be for a child Harry's age. Will keep an eye on this.

Had a school dinner with Harry today at his school. I enjoyed my lunch, though the portions are very small. Good job its enough for Harry....If he was a big lad it would be a different matter I think.

Tuesday, 19 January 2010

Orthotic Insoles!!!!!!!!!!!!!!!!!

Had Harry back at the Child Development Centre today to see the Orthotic department. His poor feet have been rubbed to blisters by the insoles that are to help support his allinment. Harry now needs some softer ones designing that wont rub him. We saw Harry's grandad & great grandad who is 85 at the hospital who was attending physio follwing his knee replacement, so that was a nice surprise for Harry.
Hydro therapy tomorrow so hopefully will have the results of his neck & spine x rays.

Friday, 15 January 2010

Cubs to Scouts

Harry has enjoyed his first couple of meetings at Scouts. He's still going to remain in cubs till March as he's appearing in the gang show dressed as a BROWNIE with Cubs. Scouts will be a lot tougher on him with more challenges, which I know he will rise too. I just hope he can keep up with the BIG BOYS and not be to disheartened when he cant. They are a great bunch of lads & the leaders are great too. Its nice to know his big brother Jack is there too, To keep an eye on him.

Wednesday, 6 January 2010

Harry's Heart

Harry has had the result from his echocardiogram which Im pleased to say went well.
On examination he has a normal first and second heart sounds with a soft flow murmur at the lower left sternal edge. His echocardiogram once more shows a structurally and functionally normal heart. His end diastolic dimension is 33mm and end systolic dimension 23 mm giving a fractional shortening of 30%. He has no evidence of degeneration of his aortic or mitral valves.
This is great news for Harry as some paitents with APS can develop heart problems. Harry will be seen again in 12 months time by his cardiologist

Snow Day!!!!

Harry & I have a day off today as both our schools are shut due to the snow..... Harry is just having a warm bath and then we will get the sledge out and go and have some fun in the snow. Harry wont manage too long as he gets very cold, very quickly due to having no body fat and also having Raynauds syndrome which effects his feet, hands and tip of his nose making them turn white and burn when they get cold. So plenty of socks, warm hat & gloves and we will have some fun sledging.

Monday, 4 January 2010

Harry & Homework!!!!!!

Harry is not a happy little chappy at the moment. He's doing his homework which is based on a BIG WRITE in preperation for his Year 6 SAT's tests in May. Harry does not enjoy writting as his hands and wrists ache. It is eased a little by a magic pencil called a STABILO 's move which gives him a better grip and support. Just read his work through and its a very good piece of writing using lots of his imagination. Here is an example of his written work called 'The Park'

'This vast 1 acre site has many entertaining facilities for all he family to enjoy'

Well done little man, keep up the good work. I am very proud of you x

Sunday, 3 January 2010

Back to School

Harry is back at school on Tues 5th Jan 2010 after the Christmas & New Year break. He's looking forward to seeing his classmates again but not to wearing his shoes which have been fitted with Orthotic insoles to help re-align how he stands and hopefully ease the pain in his legs. However the insoles hurt him so will see how he goes then maybe arrange for him to have some sponge put in his shoes too so the insoles dont rub him. Also will hopefully here about the results from his x-rays on his neck & spine to see why he has some sore tender points at the base of his neck.

Harry also starts his hydrotherapy sessions again which he loves. The warm water and gentle exercise is so good for him. Even though his legs ache afterwards I explain its all helping. Harry had a heart scan on 23rd December 09 and Im pleased to say its all healthy and they will see us again a year from now.

Harry's story

I'm writing this blog to share Harry's story with others who may be experiencing the same or similar with their children. I will record Harry's day to day life, the highs and the lows and very importantly Harry's achievements. Harry has a facebook page which can be found at

Harry John Crowther

Meet Harry Crowther our 10 year old son who has a rare genetic disorder known as Atypical Progeria/Progeroid Syndrome (APS),(NON CLASSICAL PROGERIA)associated with Mandibuloacral dysostosis and Lamniopathy whereby Harry has a defect with the LAMIN A/C gene (LMNA). Though not to be confused with the classical Hutchinson Guilford Progeria Syndrome (HGPS) it means that Harry is small for his age has no body fat and has similar facial features to a child with HGPS.
Both are premature ageing disorders.
Progeria is an Italian word, meaning " Prematurely old"
Also he has short clavicles (collar bones), a small mandible (jaw) and facial dysmorphism and his skin is thin , atrophic (aged) and sclerodermatous, especially over his hands and feet. The majority of his body is covered in darker skin pigmentation which resembles large freckles.

Harry has a better life expectancy than a child with HGPS though its recommended he has yearly Trans Thoracic echocardiograms as some paitents with APS develop cardiac abnormalities including valvular problems. Harry's growth and height is also monitored. He also has to maintain a low fat diet and continue with physical activity though he does become tired easily.Unlike HGPS children Harry has no hair loss though his hair is very coarse and slow growing. He has also given a sample of his hair for testing & research.
Harry had to travel to the UT Southwestern Medical Centre, Dallas Texas for his diagnosis and he is believed to be the only known child in the UK with a confirmed diagnosis of APS. There are only 16 reported cases worldwide.(This number was correct in August 2008) He was only diagnosed at the age of 7 after rounds of tests and other missed/incorrect diagnosis.