Thursday, 2 December 2010

Hand Splint!!

Harry has now had fitted a hand splint for his left hand to keep it in a neutral position as his hands curve due to his arthritis & stiff joints. He will wear it for 1-2 hours a day after school. He will have another fitted for his right hand in the New Year. Im sad about it as its really ugly looking and its yet another reminder of his disorder. On the positive side I know it will help support Harry's hands and ease the pain & discomfort he has. Love you Harry xxx

Saturday, 27 November 2010

Switch On!!!!

Very proud of my little man tonight, first he judged the elf competition with the Mayoress of Mirfield, then Harry got to ride in Santa's sleigh with the winner into Mirfield. Harry gave a great speech then switched on the Mirfield Christmas lights. As his mum I was so very proud of him. All his family & friends turned up in support of Harry to watch his big moment.
Harry got very cold, very quickly which made him feel a little ill, so thankfully his Great Grandad gave him a lift home to defrost!!!
Well done Harry you did so well & we are all very proud of you as I know Sir Patrick Stewart will be for turning on the Christmas lights on his behalf.

Wednesday, 17 November 2010


Harry had a heart scan today & the cardiologist said all looks well but due to his shortness of breath & heart palpatations after excercise & when in bed just as he falls asleep she has referred Harry for a 24 hour heart monitor to be worn & Treadmill heart test too. Taking Harry to have a fasting blood test on Friday to check his blood lipids also.

Harry started back at hydrotherapy today & really enjoyed it, he loves being in the warm water so much and can move freely without discomfort.

Saturday, 13 November 2010

Hospital appointments/visits

Harry's DEXA scan results came back as normal which Im so happy about, its shows that Harry's bone density is ok at this time. He has a Trans Echo Cardiogram coming up along with an appointment for a hand splint to help ease the pain in his wrists and keep them supported in the correct position.

Also Harry has to have ...further x-rays taken of his bones and also a Fasting blood test to look at his blood lipids,. Will make an appointment to arrange for a prescription of Emla cream to numb Harry's skin before the blood text otherwise he will not give his consent for a blood test as his skin is so sensitive that injections are really painful for him.

Tuesday, 26 October 2010

Sir Patrick Stewart

Harry recieved a very exciting phone call today all the way from New York from non other than Sir Patrick Stewart, he asked if Harry would please turn on the Christmas lights this year in our town of Mirfield as Sir Patrick Stewart is unable to attend and would like Harry to represent him by turning on the lights on his behalf......Wow

Sir Patrick Stewart is also very much looking forward to meeting Harry personally in the Spring time and that he thought Harry was an inspiration.

How so exciting for Harry and what a lovely surprise to recieve such an amazing phone call.

Thursday, 21 October 2010

Telling his story!!

Harry has a very busy 3 days of filming coming up, to tell the story of his Progeria.
I am so passionate to tell Harry's story and to (I know I say this so many times) raise awareness for his type of Progeria. Its been tough preparing for this, Today Ive sat and watched video footage of Harry aged 6 on holday in Florida before his diagnosis of Progeria. I can tell that Emma is Emma & that Jack is Jack but to look at Harry then and to look at him now its like a different little boy. You can clearly see looking at him now the effects his Progeria has had on his apperance and its been tough to watch. The Harry in Florida is the same cheeky, smiley, funny little boy as Harry is now, and that is a comfort.
On the plus side we have laughed and giggled at the funny things he said aged six, the words he couldnt prounouce and his crazy dance moves but the way he looked now to then is taking some getting used to. You dont see it living with it day to day and photos dont give an accurate picture but to see moving pictures and hear the way he talked and watch the way he moved is so very different to my little man Harry today...Progeria has a lot to answer for!!!!!! but it cant take Harry's spirit and zest for life away...

Sunday, 17 October 2010

Special Needs!!

Harry has been put on the Special Needs register at high school, I guess that's just another reminder that he's different from his peers and requires some some support in certain things....Castle Hall have been so fantastic with him, working along side his Occupational Therapist & Physiotherapist. Harry's needs are paramount & by working together Harry's needs are being met.

Friday, 8 October 2010

Dexa Scan

Harry had a DEXA Bone density scan on the 7/10/10 at the Leeds General Infirmary. This is to look at Harry's bones and measure the density of them. He recieved a copy of the scan for him to keep and I look at his little tiny, pale coloured bones and wondered how much has changed since his last scan in Dallas, Texas when he was 7.

It will be a few weeks before we gets the results after the consultant has looked at them. Keeping my fingers crossed that the osteoloysis and bone degeneration has not worsened.

Harry OT update

Harry's visit with the Occupational Therapist went well, she's been into school too, to check heights of tables etc for Harry.

Harry will benefit from leg supports on the chairs he uses in classes, these are fitted to the legs of the chair for Harry to rest his feet on to keep his feet flat,
I believe there are 4 other students in the school that also require them,
also a foam support for his back to keep him in the correct posture when working. The OT also talked about Harry having hand splints which would be used at home. Due to Harry's Progeria & the arthritis and limited movement in his hands wrists, Harry's hands are almost continually curved he never straightens them to the correct position so the hand splints will help with this.

He is continuing to enjoy High School & has had no problems with teasing, infact his fellow students have taken hin under their wing and for that I am extremeley greatful.

Monday, 20 September 2010

Ambassador for Mirfield

I am very proud to announce that Harry has been chosen and sharing the accolade with
Sir Patrick Stewart to be an Ambassador of Mirfield & will be
presented with his award on Sunday 26th September at a Civic Ceremony.

Friday, 17 September 2010

Medical Appointments

Harry has an apointment with an Occupational Therapist on Monday 20/09/10
to look at the limited movement he has in his hands, fingers & wrists.
This is his latest referaal to another specialist.

We are also awaiting an appointment to come through for a DEXA scan which measures bones density. Harry last had one of these ...in Dallas when he was diagnosed aged 7

Thursday, 2 September 2010


Well, Harry started at Castle Hall School today in Year 7. I was nervous, he was nervous but in the end we'd nothing to be nervous about. Harry LOVED it!!!!
Channel 5 news (Five News) came and filmed him this morning as he got ready for his very important milestone of starting High School.

He put on his tie, packed his bag & did a piece to camera. The only downside is that Harry was without a school blazer as the small one we had ordered had not yet arrived. I hope it comes soon as I dont want Harry to feel different from his peers and give his peers more reason to stare.

All the special measures have been put in place & Harry is happy.

His favourite lesson today was German & he enjoyed his lunch of Sweet & Sour chicken with fried rice.

Here's hoping he has a good term & soon makes lots of friends.

Love you little man xx

Wednesday, 25 August 2010

Progeria Reunion - Newspaper article

With reference to the Progeria reunion Harry attended with Hayley & his new friends. I know Ive said it before but thank you again to those of you who helped & donated..xxx

Please see the link to the right of this post
Thank you

Friday, 20 August 2010

Great Ormond Street Hospital

19th August 2010 - Harry has just had an appointment with Dr Wilson, Genetics Dysmorphologhy Dept at Great Ormond Street Hospital. Learnt so much more about Harry's Progeria. Harry very bravely gave a skin biopsy & bloods to grow fibroblasts with a view to more research into his Progeria. She also took photographs of Harry to aid this - 'Watch this space for news on this'
Dr Wilson suggested a referral to an Occupational Therapist as Harry has limited movement in his fingers, hands & wrists and would benefit from using a keyboard during his time at high school as writing will become more difficult, which explains why he got level 4/5's in his SATS but a level 3 in his writing skills.
She also recommended Harry has another DEXA scan which measures bones density, Harry last had one of these in Dallas aged 7.
Feeling so much more positive after this appointment.

Friday, 13 August 2010

UK Progeria Reunion - Ashford Kent 2010

Harry had a wonderful time at the first UK Progeria reunion. He is now part of a very special family & has been welcomed with open arms. Harry has made many special friends from all across europe. Children see no language barriers, they see only friendship with a smile, a hug & a kiss.
Progeria children take your breath away with their warmth,zest for life & most importantly their love.

Thank you so, so much to all of you who donated to Hayleys Hope. This is the first of many reunions for Harry now & to see him playing with children like him has been inspiring to me as his very proud mummy. X x

Thursday, 5 August 2010

UK Progeria Reunion

So very, very excited. Harry & I are going to Kent tomorrow 6th-12th August to meet other children & their families whose lives are touched by Progeria. A very special Thankyou to the amazing Kerry & Mark Okines for making this possible. This Progeria reunion will be a wonderful chance for Harry to meet & share experi...ences with children similar to him. I know that Harry will make so many new friends & share so many special memories to treasure a 'lifetime'
Love you little man x x

Tuesday, 6 July 2010

Harry's story on GLOBO TV Brazil

In May Harry filmed with GLOBO TV in Brazil, please take a look at the link. Thank you

Wednesday, 30 June 2010

Clever Chairpadbag

Just ordered Harry a chairpadbag for High school in September. Its a cool bag that holds all his books & stuff, then fastens over the back of a school chair and folds down into a back & seat cushion so that Harry will be comfortable whilst sat for his lessons. Looks brilliant. (Thanks to Harry's Aunty Julia for the link).

Tuesday, 29 June 2010

Transition to High School

Harry & I had a transition meeting with his High School SENCO, Medical Officer along with the specialist school nurse & head of Inclusion from his Junior school.

Im confident that they will support Harry's transition into Castle Hall.

Firstly he will be permitted to leave classes 5 minutes early to avoid the mad rush between classes. Harry will also be given a locker in a quiet area, again to avoid being crushed by his fellow students.

Harry unfortunatley due to his slight frame and also due to bruising and his arthritis can not take part in any contact sports ie football or rugby, however he will be able to be a linesman for the game and collect the ball etc so he feels part of the team and not left out.

Harry also has the option to arrive & leave school via the reception area, again to avoid the mad crush of 100's of students trying to leave school.

Harry has an induction day on 5th July at his new school. He's very excited about it.

Thursday, 24 June 2010

Harry's Hot Tub

Harry's hot tub/jacuzzi is now here and Harry has been in. Its not quite warm enough yet but he couldnt wait to have a turn. The warm water & jets will help ease the discomfort of his arthritis & joint pain and its big enough for him to do his exercises that his physiotherapists do with with when he has hydrotherapy.
A big big thank you to my family & friends for their help in getting everything ready from the digging out the soil, to laying the base & doing the electrics. A huge big thank you goes to DRL Limited/Appliances on line & Jacuzzi for kindly giving the hot tub/jacuzzi to Harry as an amazing gift. We can not begin to thank you enough for your kindness.

Monday, 21 June 2010

Thank you!!!!

Thank you sooooooooooooo very, very much to everyone of my family, friends & facebook friends who has helped by donating money to the UK Progeria Reunion. Harry & I are very greatful and so much looking forward to spending time with Hayley & all the other children & their families whose lives are touched by Progeria.... Thankyou, thankyou, thankyou xxxx

Saturday, 12 June 2010

Harry's Hot tub

Harry has hydrotherapy every Wed which helps promotes relaxation, relieves pain, assists movement and enables exercise. It can also help prevent his arthritis from getting worse. The hot tub will do the same so that Harry can exercise and relieve his aches and pains everyday. Harry has had the hot tub brought for him by a business so we are so very, very greatful x Have laid the patio and had the electrics done, waiting for a date for the hot tub to be installed.

Thursday, 3 June 2010

Bazilian TV

Harry has just spent 2 hours filming with 'Globo
TV Brazil' and has had the best time. Thank you so much to Marcos & Paulo for being so kind and giving Harry a wonderful experience and thank you for sharing Harry's story.

Saturday, 29 May 2010

Harry, Hayley & ITV1's This Morning show

Harry & I were invited on to ITV'1 This Morning show to talk about Harry's Progeria and to raise awareness for his disorder. Everyone was so lovely and Harry met lots of TV stars...

There was a very big suprise in store for Harry when the show secretly arranged for the beautiful Hayley and her mum, Kerry to come onto the show and meet. Harry's face was a picture.

Harry & Hayley then had a ride on the London Eye, eating candyfloss... next we had lunch with them and then they played in the park beneath the London Eye.

It was soon time to say our goodbyes but we had an amazing day and it was so amazing to finally meet Hayley & her wonderful mum, Kerry.

Thank you to everyone concerned at ITV1's This Morning for such a amazing day.

Monday, 17 May 2010

Pirate Testimonials


Read our testimonial along with the other amazing GOSH families

Sunday, 16 May 2010

Harry's Facebook group

I have been really touched by all the lovely, positive comments that have been left on Harry's facebook group page from kind people from all over the world.

Below Ive added just a few to share on this blog.

Well Harry, yesterday i had my GCSE French Speaking Exam! and guess who's story was stuck on the wall, straight in front of me, yours! Gosh did it make me smile seeing you on your skateboard, happy as ever! I was so close to giving up but just seeing your brave face up there inspired me too carry on trying and get the ...best grade i possibly could! You change so many people's lives and inspire each and everyone of us, So thanks Harry, without you i couldn't have got that grade A! xxxxxx

Hi Harry, just wanted to let you know you are always being thought of (all the way in NYC). You are an inspiration to so many regardless of only being here in this world for such a short period. May God always shine his light upon you. Keep that smile on your face always, it lights up the world :)

Hello Harry you are very special to the world! I see that you are a strong and brave boy has hope that God will show the masters of medicine to cure you remain so strong and brave taught every day all over the world and the value of life! God bless! Kisses my angel

You have teach me a lot today and I want to say Thank you. Im an Acrobat, I have been in pain and frustration because of my back... God put you in my way, I know it!! You are very brave, enjoy every second of your life Harry! I really wish you the best and you are in my thoughts...Big Hug and kiss for you.

There are so many more inspiring message likes these that I find totally amazing and heart warming. To read more check out Harry's page at

Tuesday, 11 May 2010

Courage Award

Harry has been nominated for a 'Courage Award' by the Daily Examiner for their annual event the Examiner Community Awards 2010. Harry has been shortlisted for this award and we will know if he has won at the Gala Awards ceremony and gala dinner on Monday 7th June

We are so thrilled that Harry has been nominated and even if he does not win it is an achievement in itself for Harry's to be considered worthy to be nominated.

Saturday, 8 May 2010


Harry and I have just returned from a week in Majorca courtesy of Great Ormond Street Hospital for Children, First Choice Holidays and The Pirates Adventure.

Harry had the best time and enjoyed meeting the other children and their families who are also patients at Great Ormond Street

Harry and his friends attended the Celebrity Premier opening of the Pirates show as VIP guests and have had an amazing time..

I can not begin to thank all the people involved for an amazing week full of surprises, fun and laughter

Brilliant xx

Tuesday, 27 April 2010

Harry's Story


Please find above a link to a news story we have done with Harry to raise awareness for his genetic disorder.

We're so proud of Harry for doing such a wonderful job..

Sunday, 25 April 2010

Harry - St Georges Day Parade

Harry has had a brilliant day. As a Gallantry Award Holder, Harry met with HRH Prince Charles and Harry's hero Bear Grylls who is the Chief Scout. Bear took the time to sign a Bear T Shirt that Harry has and took along especially and even had a lovely photograph taken with Harry. He told Harry he was a star and a brave boy.

I would personally like to thank all the staff who made the day run so smoothly and also to all the Leaders from our district who turned up to watch the parade and were waiting to congratulate Harry as we left the Windsor Chapel.

Harry thinks today has been one of the best ever and he will have lots of special memories of such a brilliant day...

Friday, 23 April 2010

The media world

Well today has been so eventful... What started with an article in a local paper about Harry's genetic disorder has turned into him being in papers from as far as Australia, Spain, Italy, USA and our British papers too


We have even had calls from Magazines, radio & tv shows....

This I know is a good thing as it is helping raise awareness for Harry disorder but its just been a crazy, buzy day and my phone has not stopped ringing.....

and aslong as it highlights APS and the amazing work that Great Ormond Street Hospital do, then Im happy...

Thank you also to Great Ormond Street Hospital, First Choice Holidays, Pirates International and the Novotel, Birmingham for the weeks holiday Harry & I are going on a week from today....
One word sums it up perfectly

Sunday, 18 April 2010

Brimham Rocks

Took Harry, big brother Jack, myself & his daddy to Brimham rocks today. Harry had some pain in his groin area to begin with so gave him some pain relief and off we set. Brimham rocks is a natural area of beauty in North Yorkshire where there are huge rocks and boulders for people to climb on and explore.

Harry knew his own limits and climbed some boulders but could not manage some of the climbs and jumps that his brother could. He did however crawl through a small tunnel in the rock, though his neck was quite sore afterwards. We took plenty of rest time for Harry to catch his breath and rest. The exercise he has had today has done him the world of good, he was so tired afterwards and needed Dad to shoulder him back to the car. So proud he tried his best, climbed the rocks and boulders and had lots of fun in doing so.... Well done Harry....

Friday, 16 April 2010


Just been to the Doctors with Harry as he has had a funny sound and vibration in his right ear on and off for a couple of months now.... Turns out he has mild tinnitus, I expected this to be the case so wasnt shocked. The Dr did say you'd expect to find it in some one a lot older than Harry but given his disorder it maybe the reason for it. There's no treatment for Harry other than to monitor it and take note if we think his earing becomes impaired and then the Dr will refer him to the ENT department.
He suggested that Harry listens to some soft music at night to distract from the tinnitus.

Harry made me smile as on leaving the doctors office he turned to me and said with a big grin

"another thing to add to my list"

I love his outlook, he's my little star.

Thursday, 15 April 2010

Feeling Positive

Im feeling more positive today. Harry has just taken his diagnoses in his stride and its another thing he just accepts and gets on with. Only problem is remembering to give him his pain relief 4 times a day. Will set alarms on my mobile I think. Its only as we're still on school holidays, once we're back in the school routine it will be easier to remember, half a tablet morning, lunch, after school, then at bedtime.
Harry keeps reminding me through out the day so that's good. He is a star!!!!

Tuesday, 13 April 2010


Harry has been to see two very nice doctors today, a Rheumatologist and a Paediatrician who specialises in childrens pain management. Harry has been diagnosed with arthritis in his elbows, toes, fingers,Knees, he also has had his hips x ray'd as they suspect he has it there too due to the pain and limited movement on rotation inwards, this may explain his continuous leg pain.
The x rays from Dec 09 on his spine and neck show the bones in his neck have some degeneration in them. I was shown the x ray and its not nice to see the bones in your little boys neck crumbling which is the best way I can describe what I saw. Thankfully they assure me its nothing to worry about and is what they would expect to see in someone like Harry who has an premature aging disorder.
I was very brave and didnt cry in front of Harry... I must stay positive, he's walking, talking, happy and loves life and I have to remember this but the word Arthritis makes me imagine an elderly person not my happy 11 year old boy.
So from here its keep up his exercise and his hydrotherapy to keep his muscles strong and to take 1/2 a paracetamol 4 times a day or ibuprofen 3 times a day depending on his pain discomfort. I dont like the idea of Harry taking pain relief everyday but it beats him being in pain and discomfort for everyday.. The Rheumatologist will see Harry again in Sept..

Saturday, 10 April 2010

School Blazer

Took Harry to the uniform shop for his blazer for high school.. The smallest one they had for Castle Hall was a 30' which swamped Harry. He tried on another school blazer which was a 28' the smallest blazer they do in the shop..... This also swamped Harry... They informed me they dont make them any smaller. Hopefully they can order me a 28' but the orders have already gone in.... Fingers crossed they can get one and we will have to turn to Grandma to take up the sleeves and nip it in at the waist... The major problem being is the shoulder pads they insit on putting in blazers... and as Harry has very tiny collar bones and is very narrow across his shoulders and back the blazers look odd on him.. On a lighter note it was lovely to see him in a blazer and he did look very smart..

Thursday, 1 April 2010

Orthodontic - Teeth

I had a lovely letter from Mr Cook, Consultant Orthodontist, following Harry's appointment with him back in March..
As we already know Harry does present with a potential for quite severe overcrowding in both his jaws but thankfully no more intervention is needed at this time. Harry found having 4 teeth removed under general anesthetic quite upsetting last time and also with the failed incubation Im understandbly more nervous too as any future intervention requiring Harry to be incubated will mean he needs to be near the paediatirc intensive care unit to keep an extra eye on him. This is because Harry has an extremley small mouth & jaws. Harry doesnt have as many teeth as a normal kid his age so its a waiting game to see if and when they will come through. Mr Cook informed Harry that quite simply he has 'too many cars for the carpark' which is ironic as he does not have all his teeth through yet. Harry will no doubt have a long road ahead of him in terms of his teeth but he is being looked after by a group of amazing dentists and Orthodontist specialists so for the moment I am happy. Harry will see Mr Cook in 18 months time to see where we go from then.

Wednesday, 31 March 2010

Hospital Visit

Harry has an appointment on the 13th April at the Hospital with a specialist in Rheumatoid Arthritus to see if this is the cause of Harry's pains in some of his joints. His left leg at the knee is especially bothering him & he is asking for more painkillers through out the day especially during school and in an evening before his bed time. I hope that we will get some answers to Harry's joint pain and that something can be done to ease his discomfort. I dont like that he has to take pracetamol & ibuprofen all the time.....

Monday, 15 March 2010

Games Lesson

The Pre-School in which I work is next to the playing fields of Harry's school.
Monday afternoons is Games. I watched as Harry joined his classmates for a game of Tag rugby. This is where you have a belt with two tags attached and play with a rugby ball. The idea is to pull off the tags on the opposing team. A much safer way to play rugby....

It has been a cold day today and I watched as Harry played in his oversized bright red games jumper which first belonged to his sister then his brother. I cant imagine it ever fitting Harry & as he leaves Junior school in July I dont suppose I'll ever find out.

Harry had forgot to put on his gloves and I could see the sleeves of the red jumper hanging over his hands. Harry has Raynauds disease and I watched as he kept on blowing on his fingers and rubbing his hands together to try and keep them warm and to keep the circulation moving.

Harry stood for a while and I obsereved him rolling his neck & shoulders which I new were beginning to ache. I watched as he walked slower and limped slightly as his legs began to ache. Yet he still carried on smiling and enjoying the games lesson.

I watched with admiration as a friend of his fell and Harry rushed over to support his crying friend whilst still blowing on his hands to keep them warm.

I watched as he went over to his games teacher and I obsereved her touch him gently on his back to reassure him it was ok for him to go in as his hands were cold & painfull and his legs, neck & shoulders were aching. She gently removed the tags from his belt and I watched as Harry limped indoors.

This for me today has been yet another reminder of Harry's condition and how it effects his everyday life. He loves Games & PE and will join in till his body tells him otherwise. He makes no fuss as he asks the teacher if he can sit out. He is my very brave 11 year old with a premature aging disorder that he just copes with and puts up with and for that I have so much love and admiration for him.

Monday, 1 March 2010

Aches & Pains

Harry has his 6 monthly appointment with his pediatrician 4th March. His physiotherapist has hopefully written to him for a referal to a specialist in chronic pain/ arthritus etc. Harry is starting to complain more and more of pain in his legs, mostly his left leg and now his left knee, both wrists. I dont like to keep giving him paracetamol and ibuprofen. There must be something else they can do. Its not fair he suffers with joint pain at only 11 years old. He never normally complains but as soon as I picked him up from school today he said his knee was hurting.. I wish I could take the pain away.

Wednesday, 17 February 2010

Insoles round 2!!!!

Harry has got his new insoles, they are alot softer than his others. He did get up during the night with achey legs and wanted a paracetamol so he's still breaking them in.... half an hour for the first time, an hour the next and so on...... See how he copes with them tomorrow when we go out for a walk around town in them..

Sunday, 7 February 2010

Personal Achievements

Today Harry will be attending Bradford City Football club along with some of his friends from 8th Mirfield Cubs, who are to be presented with their Chief Scout Silver Awards & Certificates. Harry has worked really hard to complete challenges to win this award,.

We have the date also for Harry to attend St George's Day Parade at Windsor Castle in April, in the presence of Her Majesty the Queen. Harry has been award the Chief Scout's Commendation from Bear Grylls for Meritorious Conduct. Harry has even recieved a letter from the Mayor of Mirfield congratulating him on this achievement.

We are so very proud of Harry, he loves Cubs & Scouts and his Akela, Chris Wilding is such a brilliant Leader and has nominated Harry for these awards. We would personally like to thank Akela & all the leaders for all their help & support with Harry during his time in Cub Scouts.

Harry takes each days as it comes and lives life to the full, he never complains even though we know he has his aches and pains in his legs & neck. They are part of Harry and he has learned to live with them and the things he can and cannot do. I see the subtle changes in his apperance daily but his positive upbeat attitude keeps us all smiling.

Enjoy these special times Harry, You deserve them...

Tuesday, 2 February 2010

Happy 11th Birthday Harry

Its Harry's 11th birthday today and we've just done his cake and candles. I cant believe my little man is 11 and will be starting high school in Sept. He's too little and the blazer for his uniform will swamp him. Will have to have one specially made I think.

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.