Ivy'v Story What care and support is available for those with deletion 22q11 syndrome?


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Tom

Tom Proctor.. in 2002.. and 2008

Tom(The first installment of Tom's story appeared in the Max Appeal newsletter in August 2002)

Tom Procter was born on 29th November 2000 weighing 5lb 7oz to proud parents Emma and Paul. Everything seemed great immediately after the birth until one nurse started raising concerns over his poor feeding, excessive sleeping, blue tinge and heart murmur (although they weren't too concerned about this as all newborns have a slight heart murmur). After moving up to the Special Care Baby unit at 2 days old the Paediatric Consultant at Doncaster suggested that as Dr. Dickinson, the Cardiologist from Leeds, was holding his three monthly clinic at Doncaster that day it may be worth sending Tom down to see him. It didn't take him long to diagnose Tom with Pulmonary Atresia and VSD. Tom was 5 days old. Tom was then moved to Leeds General Infirmary and was discharged at 2 weeks old. He returned in March and underwent heart catheterisation, which confirmed Pulmonary Atresia with large collateral vessels, and VSD. Cardiac surgery early on was recommended to prevent damage to his lungs.

During the heart catheter, consultants also identified that Tom had a narrow windpipe, which was very typical of someone with 22q11.2 and this caused a few problems during his recovery from the catheter procedure and would have to be borne in mind for future surgery.

Leeds General Infirmary checked his calcium levels, which were OK during his post-birth period, and the family were referred to an immunology team at St. James Hospital in Leeds. Tom's calcium and immune levels have been re-checked recently and Emma and Paul were over the moon to find that they remained in normal limits.
TomOnly three weeks after being born, and already having to cope with his heart condition, Tom was rushed back in to Leeds General Infirmary on Christmas Eve and was diagnosed with Bronchilitis. This meant another two week say in hospital over which time he suffered part of his lung collapsing and it was during this stay that it was confirmed that Tom had 22q11.2 (Why do these things always happen at Christmas!) Tom managed to fight off this virus, which was probably helped by the fact that his weight gain was very good. By the time he was 18 weeks old he had jumped from 5lb 7ozs to 13lb 3.5ozs!

After four months of being NG fed, Tom began taking all of his nutrition and hydration orally and Emma and Paul are amazed at how well he is taking his feeds. It has been a slow process onto solids, but Tom is continuing to enjoy his grub!
TomTom was admitted for his open cardiac surgery in November 2001, as discussed with Emma and Paul shortly after Tom's Pulmonary Atresia was diagnosed, which meant that he spent his first birthday in hospital. However, the surgeons found that Tom did not have a pulmonary artery so they were unable to complete the procedure that they had envisaged carrying out. Emma and Paul have discussed this with the consultants and all parties are happy that Tom is coping just fine with things just as they are his weight gain is good and he is happy and contented. He does get very tired and breathless but he is on no medication. Tom will be reviewed regularly and decisions about future surgery will be made as he develops.

Tom will be two at the end of November and his mum and dad cannot believe how the time has flown. Tom is able to communicate wonderfully and has six words already. His muscle tone is low and this had impacted on his motor development and he currently is trying to move about on his bum! He sees a physiotherapist and has a great amount of support at home to encourage his crawling and walking. He has had several knock backs this year with a couple of stays in hospital with pneumonia and a severe dose of chicken pox but he just keeps bouncing back.

And Tom has yet another thing to look forward to he can expect a baby brother or sister to come along at the end of October. Emma and Paul are expecting their second child and are extremely excited.

When Emma and Paul contacted Max Appeal when Tom was 18 weeks old they said 'the past 18 weeks have proved to be the most emotional of our lives .....' and I think this is something that all families will relate to. Tom, Emma and Paul receive a tremendous amount of support from their families, which has provided them the opportunity to enjoy every moment with Tom and remain positive during the stressful times.

Emma and Paul enjoy reading the Max Appeal newsletter and were really pleased to be asked to share Tom's story with you. Here's wishing the family all the best with their forthcoming arrival!

UPDATE IN 2008!!!

TomTom with his brother, Charlie!!

It's some time since I last updated you with Tom's progress so thought I would let you know how well he is doing.

Tom is very lucky to lead a very normal life with the obvious physical disabilities due to his heart defect (pulmonary atresia with collaterals). Although Tom has Di-George none of the other main symptoms seem to have affected him to any great degree he has a good immune system, no problem with calcium, does talk very well but does sound very nasally and difficult to understand at times. His early diagnosis of a 50/50 chance of him enjoying his fifth birthday has long gone by and he will be eight in November.

Our Cardiologist Dr Dickinson in Leeds, who we see annually, is very pleased with Tom and his stable condition and the fact that he is showing no signs of any deteriation. His iron levels are at the bottom of normal so this is obviously being monitored.

Following his open heart surgery just before his first birthday, where it just ended up being exploratory and no procedure was carried out, Tom has not had to have any overnight stay in hospital. We still have an 'open ward' agreement at our local hospital which is great for peace of mind.

Education

TomTom is now seven and is in Year 2 of a lovely village mainstream school. He has a statement of special needs for 17.5 hours a week and we were lucky to have a lovely lady, who looked after him at nursery, move up to school with Tom to look after him. Tom started school only on a part time basis through the reception year and when he was ready he increased his attendance slowly and now attends full time.

Tom is involved in every school activity although is obviously restricted when it comes to anything physical. His particular favourites are music, computers, anything to do with art and craft and he loves doing PE (although his teachers are always a little anxious at this time). However he shows less enthusiasm for maths and writing. He recently joined his class in a regional school concert where he took part in three songs and particularly loved his role as Oliver in 'Consider Yourself' knowing every word and all the actions.

Tom enjoys school and is very popular with all his class mates. He tends to play mostly with the girls who are always quite happy to sit down playing quietly rather than running off to play football. It is becoming more obvious as the children are growing older that his male class mates are all getting much stronger and wanting to play typical boy games which Tom is unable to participate in.

We attend all the school trips with him, which the school are happy for us to do, and although we don't let Tom go swimming with the school (just always concerned about bugs and whenever we have taken him he gets so cold and blue), we go along with Tom on the school coach and let him watch his school friends so he still feels part of it all.

Although he is progressing in leaps and bounds he is working at the bottom level of his class although there are also a couple of other children working at the same level as Tom. He has been lucky to have an exceptional teacher this year who has worked really hard and been successful in helping Tom keep up with the rest of the class. He still needs help with his speech although everyone has grown to understand him. He still gets 2.5 hours a week in his statement for speech therapy and the school work closely with the specialists in helping him with this.

Appearance

TomAlthough Tom has a fantastic appetite, with a particular fondness for tuna and pasta, he is of very slight stature still only just making 3 stone. His five year old brother Charlie is now the same height as Tom and people always ask me if they are twins. They don't look at all alike but they could pass as the same age. Tom's fingers and mouth are permanently blue and he has started to develop club fingers and toes which is to be expected with his low oxygen levels. Due to his low muscle tone and that the fact he is very weak around his ankles (I don't know what the correct terminology is but his ankles nearly touch the floor) he still benefits greatly from his Pedro boots and insoles. He lost his first tooth at Christmas and he is just about to lose his second one.

Physical ability

TomTom leads a very normal life but as you would expect he can't walk very far. His oxygen levels are in there late 70's at best. He loves horse riding, and as his Grandma is a horse riding instructress, we have obviously encouraged him to have this little hobby.

He has shown interest in music and therefore we let him have some keyboard lessons which he showed very good promise. However after half a dozen lessons became completely stubborn and wouldn't do anything the music teacher told him and announced that he didn't want to do keyboard anymore but he wanted to play the violin!! We have mentioned this to the music teacher at his school and he will hopefully start in September.

He does get tired very quickly and tends to suffer with headaches when having done too much. A little rest and a drink always seem to do the trick, and the odd calpol when necessary, and then he is off again. It is sometimes really difficult to distinguish between the times when he is being really stubborn and naughty or when he has just had enough and he just can't be bothered. Tom takes everything in his stride and understands when his body is telling him to stop, usually when his heart looks as though it is going to jump out of his chest, and then Tom is quite happy to take a minute before carrying on.

We have a disability pram and appreciate that soon we will have to look at moving onto a wheelchair. We have however, over the years, bought Tom battery operated cars for him to have some fun on whilst playing out with his friends and these have ended up being absolutely wrecked.

At the end of last Summer we got Tom a quad which goes a lot quicker and means that Tom can keep up with his brother and his friends when we go out for walks or bike rides. The battery lasts about 45 minutes and we take the quad everywhere with us. It just gives Tom his independence, instead of being pushed in a pushchair all the time, and he absolutely adores it best thing we have ever bought.

Holidays

TomAlthough our Cardiologist says that Tom should be OK on short flights we have not ever wanted to take the chance and have enjoyed some fabulous holidays in England, always being fairly lucky with the weather. Tom doesn't like extreme weather he suffers in extreme heat and cold.

Last year we decided to buy a caravan and have tried to go for a weekend away once a month. We have had the best time ever and Tom absolutely loves it. We are thoroughly enjoying exploring England and showing Tom as many places as we can.


Long term outcome

TomWe very much appreciate how lucky we have been so far. Tom still doesn't take any medication and he leads a very full and active life. His social skills are excellent and he loves to be centre stage. He is not too happy in big groups of people or where there is a lot of noise and he does tend to panic in these situations. For this reason he does not enjoy the cinema or the theatre so we just don't go. He understands that he is not quite the same as his brother and his friends but everyone seems to look out for him.

We are very lucky to be surrounded by close family and friends and Tom continues to enjoy all the love, care and affection of them all. Because of this I have been able to continue working throughout, however recently I decided to get out of the rat race for a while and have resigned from the advertising company I have worked at for 24 years. Haven't really got a plan but just want to enjoy my boys this Summer and be a mum for a while can't wait.

We continue to take every day as it comes and try not to think too far into the future. We still get very worked up before our annual appointment with the Cardiologist Dr Dickinson and I more than often cry when I see him however I am sure he is used to that. He is an absolutely fantastic man who has been with us for the whole journey so far. We completely trust him and tend to hang on to his every word! There is always a sense of relief after the appointment and when he says 'see you in a year'. Here's hoping!
Tom