The Finishing Line

Dorando Pietri - Stumbles over the line first in the 1908 Olympic Marathon then disqualified as he received help !!

I set out to write 22 pieces in 22 days and have finally made it. I must admit I didn't appreciate what I had taken on and after the first couple of days I wasn't too sure if I would stay the course.  In fact as time passed I thought of more and more things to write about and blogging has become quite addictive.

As my friend Mike Woods http://rulesfoolsandwisemen.blogspot.co.uk/ explained to me some time ago you write articles because you want to write them and say to yourself that it doesn't really matter if no-one reads them but in the end the fact that someone is reading them it is very important.

Personally I have been overwhelmed by the response which just goes to show the power of social media in sharing information. At the time I am writing this piece the blog has received over 3,700 page views from more than 10 countries including UK, USA, Ireland, Australia, Canada Serbia and Germany.

Thank you to everyone who has read this blog, I have had lots of positive comments, you have very kindly kept the negative ones to yourselves ! The fact that I know people have been reading and commenting has kept me going even though it has involved quire a bit of "burning the midnight oil". I have enjoyed putting these articles together finding the images and probably breaching copyrights at the same time ! However I have always tried to give proper acknowledgement to my sources and apologise if I have missed any.

I hope that the posts have been interesting, educational and entertaining even if in some of them the link with 22q has been a little tenuous. If I have offended anyone sorry, if any information is misleading or incorrect then it is purely unintentional.

How would I sum up the 22q journey so far.

The negatives have been the trauma of the initial diagnosis, the medical procedures, illnesses and the ongoing effort to get the support that Sarah needs. We are about to embark on the next review of her Statement of Special Educational Needs and one benefit of this blog is that it has helped me to get my thoughts in order for the parents report that we need to draft. There is also the uncertainty as to what challenges Sarah will face in the future and how she will be able to cope with them.

On the positive side we have a daughter who is good fun to be with (most of the time !) with a pleasant personality who tries hard to overcome the challenges of 22q. She loves films, theatre and writing stories but hates maths ! (no surprises there). Her current obsession is the Disney film Frozen and will spend hours looking at the make up tutorials on You Tube. Most of the girls who make these short films are in the US and when she films her own tutorial on her iPad she speaks with a very passable American accent !!

She has trouble fitting in socially but enjoys going to a drama class on a Saturday morning and recently took part in a production performed in front of approximately 100 people. Although she looked nervous, she spoke her one line clearly and at the end said she had enjoyed it. She also enjoys Brownies and yesterday spent yesterday afternoon at a local activity centre doing archery (managed a bulls eye), sliding on a zip wire (got stuck and had to be rescued) went on a grass sledge (managed to steer straight into a bush !!) and came away tired and with a smile on her face.

Every person with 22q is different and the issues faced may be more or less severe than those Sarah has experienced but I hope that Sarah's story will provide some guidance to parents of recently diagnosed 22q children as to what is achievable.

Many of you will have read the poem "Welcome to Holland" by Emily Perl Kingsley which describes what it is like to be to the parent of a special needs child.  http://www.our-kids.org/Archives/Holland.html.

This is a good poem but when researching the source I came across the following great piece by Dana Nieder (uncommonfeedback@gmail.com)  http://niederfamily.blogspot.co.uk/2010/10/amsterdam-international.html which I think is a better analogy of our journey.

We have met some great people on our journey so far including many other families, fellow travellers who also got diverted. We are enjoying life in Holland and I know that personally I have a completely different perspective on life to the one I had 10 years ago. I think the last line of Dana's piece sums things up perfectly as I believe the experience has changed me for the better.

Thank you again for reading my blog, if you haven't written before give it a try as I think you will get the blogging bug. I am sure I will write about 22q again and am already thinking about setting up another blog where I will write about other subjects which grab my attention.

Miss Polly had a dolly.

Miss Polly had a dolly who was sick, sick, sick.

So she phoned for the doctor to come quick, quick, quick.

The doctor came with his bag and his hat,

And knocked at the door with a rat-a-tat-tat. 

He looked at the dolly and shook his head,

And said "Miss Polly put her straight to bed.

He wrote a paper for a pill, pill, pill.

I'll be back in the morning with the bill, bill, bill.

I am sure that many of us know this nursery rhyme having heard it as a child and then sung it to our own children. The origins of the nursery rhyme are lost in the mist of time but the fact that a telephone is used would suggest late 19th or early 20th century.

You are probably wondering why have I started this piece with an old nursery rhyme but I would ask you to focus on the last two lines   "He wrote a paper for a pill, pill, pill. I'll be back in the morning with the bill, bill, bill."

In the UK the National Health Service is such an integral part of our life that we forget its origins are relatively recent and that before its creation the doctor would have presented a bill for payment. If you were rich like Miss Polly and owned a telephone you probably also had a family physician who was always available at the end of a phone and would have been one of the few men in town to own a car.

 

For those of a certain age Dr. Mopp from Camberwick Green

If you weren't as fortunate as Miss Polly then dolly was in trouble. Workers had some insurance cover but it didn't extend to their families. Local authorities provided some community hospitals but coverage was patchy.

If you were lucky there was a hospital for the poor funded by philanthropists such as Baron Ferdinand de Rothschild  (See my Day Four blog Old Hospital- New Hospital) - otherwise you relied on home remedies or medicines peddled by quack doctors whose effects were at best useless or at worse potentially dangerous.

A fact of life in pre-NHS days was that dolly had a 1 in 20 chance of not making it to her first birthday.

It was against this background that in 1942 Sir William Beveridge produced his report 'Social Insurance and Allied Services" and one of its key elements was a National Health Service.

Aneurin Bevan, Health Minister had the job of ensuring that legislation was passed by parliament and that a new National Health Service based on three core principles:

• that it meet the needs of everyone
• that it be free at the point of delivery
• that it be based on clinical need, not ability to pay

was ready to open on 5th July 1948.

As parents of children with 22q we are indebted to the decision to create the NHS as over the years we have spent many hours and days in hospitals or out patients departments. In our view Sarah has always received great treatment from the medical staff at the various hospitals and clinics we have visited. If we had been presented with the bill it would have been for tens of thousands of pounds. We are very grateful for everything which has been done and remain firm supporters of the NHS.

Today the NHS is a huge organisation which for the fiscal year 2013/14 had planned expenditure of £110 billion. It is now the fourth biggest employer in the world after the Chinese People's Liberation Army , Indian Railways and Wal-Mart. The NHS has 1.7 million employees of which almost 850,000 are clinically qualified including 39,780 GPs and 370,327 nurses105,711 hospital and community health service medical and dental staff nurses.

The NHS serves a population of around 63mm people resident in the UK and deals with 1 million people every 36 hours. (Source: http://www.nhs.uk/NHSEngland/thenhs/about/Pages/overview.aspx).

There is not much we all agree on but I think I can say that the NHS is the one thing that everyone in the country is in favour of.

BUT

We have a growing ageing population, at the same time our scientists and doctors are discovering more treatments and drugs to keep us alive for longer.  We need to decide what services are to be provided and how they are to be paid for at a time when the country is borrowing around £100 billion a year to cover the difference between what it earns and what it spends.

To me it sounds like we need a grown up debate on what we want the NHS to be but unfortunately I don't think we are grown up enough to have such a debate.

This subject is often called the third rail of politics, if you touch it you will go up in smoke and I don't think any politician is really brave enough to debate this sensibly preferring instead to deal in slogans trying to persuade us that the NHS is only safe with them and not the other lot without really explaining how or why.

The medical staff continue to play to their strengths trying to treat more and more conditions which they will do until we tell them to stop. However we need to give them guidance and to prioritise what we need to treat on the NHS,  a new knee - definitely yes ? tattoo removal or repairing botched cosmetic surgery - probably no ? a new knee for a ninety year old ??

As users of the service we just want everything to be treated as quickly as possible and someone else to pay for it !  Just like kids who think their parents have an unlimited supply of cash.

Again what are our priorities and are we willing to pay more ? Are we willing to accept radical changes whilst still retaining the basic core principles set out when the NHS first started ?

Unfortunately there is no easy answer, but if we avoid these difficult decisions the services will drift, short term decisions will be made and we may end up in a place we don't want to be and wondering how we got there. Ideally the matter would be taken out of politics and all stakeholders could reach a consensus on a long term 10-20 year plan for what we want the service to look like but unfortunately I don't think that collectively we are brave enough or grown up enough to do that.

UPDATE - 21 November 2014

With the General Election less than 6 month away the chances of a grown up debate are non existent and until next May we will be bombarded by claim and counter claim from numerous politicians each maintaining that the NHS will only work if we re-elect them to look after it.

Already we have the major parties promising and extra £1 billion (£1,000,000,000) here and a £1 billion there. This sound a lot but with NHS in England spending £110 billion each year remember that a £1billion is approximately what the NHS currently spends in 80 hours (or 3.3 days) !

I would recommend this article from The Economist outlining some of the challenges that the service faces. http://www.economist.com/news/britain/21633900-politicians-squabble-over-englands-ailing-health-service-bureaucrats-have-offered-some



   

Friday achievements !

In my Day Seven blog - "Strength in Numbers" I said The 22Crew (http://www.22crew.org/) is keen to celebrate the achievements of people with 22q11.2 DS.

All of the Trustees of the charity are parents of either children or young adults with the condition and we all live with the challenges it presents on a day to day basis.
As I mentioned in my previous blog the geneticist we saw recommended a number of websites but did warn us that many of them were focused on the negative aspects of the condition. We can't pretend that the negatives such as illness, poor social skills and the challenges of dealing with schools and local authorities do not exist as at times we all have to deal with them and to ignore them completely would mean that we were in denial.

That said, just to focus on the negative is not good for either us or the rest of our families.

One of the most popular items on our closed Facebook site is "Friday achievements" when we invite our members to post details of all achievements during the week.

I hope that our members don't mind me sharing just a small sample of some of the achievements posted in the last few weeks.

"...22Q hockey player is showing off the hardware. 3 tournament medals and one medal and the certificate is an award that was presented to ******* as the most devoted player."

"*****certificate for his school project!! (Photo shows a certificate for outstanding work on class topic)

"behaviour superstar of the week ...........................for being really brave at hospital coming back to school and working really hard....... Every appointment she goes out of school for, she always goes straight back as enthusiastically as ever."

"Today ****** picked up a fiddle for the first time and was amazing has even started reading music."

" **** got her results from her first graded dance exams and passed both"

Finally, one of my favourites which resonates with all of us who have had issues with toilet training our children "**** did a poo on the loo !"

Friday achievements raises spirits and I think is invaluable for parents of children who have recently been diagnosed with the condition. Whilst every person with 22q is unique it does provide an indication of what can be achieved. All these accomplishments should be recognised and celebrated as we know the challenges that our children have had to overcome to reach these landmarks.

The are some great stories about the achievements of people with 22q if you know where to look and I would recommend that you take a look at the following.

Quinn Bradlee  filmmaker and author of A Different Life, a book about growing up with learning disabilities.(http://www.friendsofquinn.com/welcome/)

Tessa Koller Fashion Designer  (http://www.tessakoller.com/)

Aine Lawlor - Special Needs Assistant (http://www.irishmirror.ie/female/health/story-success-against-odds---2058323) 

Nadia Zomorodian  - Graduate in Photography
(http://globalgenes.org/a-young-womans-story-of-living-with-22q11-2-deletion-syndrome/)

Finally to all of our crew members who are embarking on GCSE exams over the next few weeks good luck and we are sure we will be hearing good news about your results in August.

UPDATE

At The22Crew we have decided that achievements are not just for Fridays and we would like our members to share all achievements at any time remember #22qCan-Do

Advocate

According to the online version of the Collins English Dictionary the word advocate can be either

verb       to support or recommend publicly; plead for or speak in favour of
or
noun   
a person who upholds or defends a cause; supporter
a person who intercedes on behalf of another
a person who pleads his client's cause in a court of law 

For those of us dealing with 22q11.2 DS I am sure we all have examples of where both versions of the word have applied to us.

Medical Advocate

We have found on several occasions when accessing medical service that we have needed to act as an advocate for the 22q cause. Often this has arisen when dealing with medical professionals who are not familiar with the condition and we have been called upon to provide information about 22q.

On other occasions we have been the party checking that none of our regular appointments get missed and that all the test results are received. We are also the party finding out about suitable treatments and pushing for them to be given to our child. Take our recent example of Sarah's sleep problems which I wrote about in my blog "The Miracle of Melatonin".  It was through The22Crew and contacts with other parents that we became aware that sleep issues were a common problem and that melatonin could be an effective treatment in some cases.

Education Advocate

Schooling is another area where our services as an advocate for the 22q cause is required.  Colin Reilly from The School of Education, University College Dublin recently undertook a study to examine parents' and teachers' views on education provision.

A couple of key findings from the survey were that only 40% of teachers consider themselves to be knowledgeable about 22q and that 67% of teachers surveyed thought that the student's family was the best source of information on the condition.

Each year we have put together an information package for Sarah's teachers and support worker about 22q and suitable education strategies using the information available on The22Crew website http://www.22crew.org/education 

Our advocacy skills are severely tested when dealing with the local education authority to get an appropriate Statement of Special Educational Needs (equivalent to IEP in the US). Each year we have made sure that we submit a detailed report as part of the review process not only to express our view of Sarah's progress but also to educate the authorities on the issues with learning that people with 22q can experience.

I think we all know that our role as advocate is not going to go away and at the end of the day we know that if we don't spread the word about 22q or push for the support that our families require then no one else will. To enable us to fulfil this role I believe that it is essential for us all to learn as much as we can about the condition and to share this information with the 22q community.

The Genome

One thing I can definitely say is that my knowledge of biology has improved enormously over the past 9 years and one area which I have found particularly fascinating in the subject of genetics.

Every human body is comprised of about 100 trillion (a hundred million million) cells and inside every one of these cell is a copy of your genome which contains 46 packages of DNA each package being a Chromosome. As I wrote in my Day 5 Blog- Striped Socks, 23 of these packages came from Mum and the other 23 came from Dad.

The DNA molecule is called the building block of life, a giant instruction manual for the body.  The DNA molecule is a double helix structure which looks like a twisting ladder with each rung of the ladder made up of one of four chemicals adenine (A), thymine (T), cytosine (C) and guanine (G).

Double Helix

The22Crew logo inspired by the Double Helix

Each pair of chemicals is referred to as a base pair and the human body is comprised of around 3 billion base pairs. The base pairs are not spread evenly among the chromosomes. Chromosome 1 is the largest with about 250 million base pairs with Chromosomes 21 and 22 being the smallest with around 50mm base pairs each.  Chromosome 22 holds around 1.7% of the body's DNA and the amount of genetic material lost as a result of 22q11.2DS is approximately 3 million base pairs or 0.1% of the total.

Individual segments of the DNA strand contain the genetic code to make proteins and each of these protein making segments is called a gene. A human body has around 20,000 genes and 22q is believed to affect approximately 30-40 genes.

The amount of genetic material missing in a person with the deletion is a tiny amount of the total, 0.1% of DNA and less than 0.2% of genes but it is amazing that such a small amount of missing genetic material is responsible for over 180 anomalies.

In April 2003 the Human Genome Project was completed and this provided for the first time the complete list of the base pairs which make up the human DNA sequence.

Research continues to progress and now scientists are looking into individual genes and the proteins they make to see how they affect the body.

Once such gene being investigate is called TBX1 which is found on the long arm (q) of Chromosome 22 at location 11.21. Experiments with mice who are missing gene TBX1 have shown similar cardiac anomalies to these found in humans. It is therefore believed that absence of TBX1 is a key factor in 22q11.2 DS.

At the VCFSEF conference in Dublin last year there was a presentation on the effect of another gene COMT. The enzyme made by the COMT gene is responsible for breaking down dopamine. Too little of this enzyme may affect the dopamine system and it is suspected that schizophrenia which is significantly higher in people with 22q (See Day 17 post - 1 in 4) may be caused by an overactive dopamine system.

These are just two of the many genes currently being researched and I think the study of individual genes and proteins is very exciting.

Only last week The Economist newspaper (http://www.economist.com/news/science-and-technology/21601809-potent-source-genetic-variation-cognitive-ability-has-just-been) reported about research on a protein klotho made by a gene called KL. The research showed that a version of the gene KL-VS promoted longevity and improved cognitive ability by 6 IQ points.  The article suggested that if a drug can be produced to boost levels of klotho this could be used boosts a person's mental ability.

This may be a long way off but I can see the day when there could be a range new drugs to help people with 22q.

1 in 4

So as a parent you have received a diagnosis and are doing your research on 22q11.2DS trying desperately hard to retain a sense of proportion and trying to remember that your child is not going to have all 180 plus anomalies (http://www.vcfsef.org/pdf/VCFS_Factsheet_07.pdf) and will instead only have a "mere" 30 or so to deal with.

You work your way through the list, heart problems - tick, palate tick, speech and language tick, learning difficulties tick. Then you find a couple of nice ones to have, abundant scalp hair (Sarah is always receiving complements on how nice her hair is) tapered digits (My Dad always said that she had the fingers of a concert pianist).

Oh !  - Your eyes alight on another section and you start to read

Psychiatric/Psychological 

141. Bipolar affective disorder
142. Manic depressive illness and psychosis
143. Schizophrenia
144. Rapid or ultrarapid cycling of mood disorder
145. Mood disorder, depression
146. Autism spectrum disorder
147. Schizoaffective disorder

Mental illness  is something that we find difficult to handle and when many people think of mental illness they have visions of some crazed fictional character locked away for the good of society. 

In reality mental illness is much more mundane and more common than people realise with around 1 in 4 adults experiencing at least one diagnosable mental health problem with depressions and anxiety being the most common. (Source Mental Health Foundation http://www.mentalhealth.org.uk/).

Last autumn Channel 4 broadcast a very informative series Bedlam - on the work of The Bethlem Royal Hospital the oldest psychiatric institution in the world focusing on subjects such as anxiety, psychosis and breakdown.

If you break your leg it gets put in a cast everyone asks how you are after a few weeks the cast is removed there is a bit of physiotherapy and you are cured.  However there remains a great stigma around mental illness and this is something which is not normally discussed as everyone is afraid to speak to someone recovering from mental illness,

Consequently I am not surprised that when the subject of mental illness associated with 22q comes up for discussion at conferences or in support groups it gets a lot of attention from parents.

In the UK the incidence of schizophrenia is about 1%, however studies of people with 22q indicate that the incidence of schizophrenia could be as much as 25% which makes 22q the most common genetic cause of schizophrenia. Research suggests that that one or more genes may be responsible and the search is now on for the culprit.

As I wrote in my Day 13 post  Sláinte, at the VCFSEF Conference in Dublin last year  there was a lot of discussion about the effect of 22q on cognitive ability. One theme which appeared regularly was the subject of anxiety and its impact on mental health as research had identified a degree of correlation between pre-adolescence anxiety and the likelihood of psychiatric symptoms in late adolescence.

It was suggested that parents should try to work with schools and in social situations to reduce stress and anxiety which in turn could have beneficial effects on mental health in late adolescence.

Suggestions included;

i) close monitoring of anxiety levels during stressful periods e.g. new school, increased school demands, bullying, leaving home etc
ii)  ensuring expectations are not set at too high a level which the individual with 22q just can't meet.
iii) It’s important for parents to promote multiple areas of social activity. Young people with 22q should join a club that they attend regularly to ensure they can get regular social interaction without relying on being invited out with friends.

Whilst it is important for parents to be aware of the possibility of mental health issues so as to spot early signs, I think it is important not to get too hung up on this issue. From my perspective the key is to provide an environment for a child or young person with 22q where anxiety is kept to a minimum and they can develop and their own pace thereby maintaining a high level of self esteem.

#22qAwarenessDays coincides with Mental Health Awareness Week and more information can be found via the following link http://www.mentalhealth.org.uk/our-work/mentalhealthawarenessweek/ 

Differently Abled

I must admit I never thought much about disability in the past and I am sure that I am not unique in that respect. I was born in the 1960's and growing up in London we had very little contact with anyone with a disability except for the blind man who used to come into our school to tune the piano. At that time I think it was a case of "out of sight out of mind".

Although I am sure that my awareness of disability is to a large extent driven by the fact that I have a daughter with a chromosome condition I do detect a shift in attitude in the UK.

Recently I was watching a TV program called "Weekend Escapes" which showed a family spending the weekend on a boat on the Norfolk Broads this is nothing unusual as there are lots of travelog programs on TV. The difference here was that the program was presented by actor Warwick Davies who has dwarfism. The program was not about disability and just showed Warwick and his family doing what any other family would do on the Norfolk Broads with no mention of their physical condition or the challenges they face. In my view this is true progress, showing people for what they are doing the sort of things many of us do in a way which is not patronising.

Warwick Davies and Family

I think one of the key drivers of this shift in attitudes was the London 2012 Paralympic Games. Demand for tickets to the Olympic Games was overwhelming and many people were left disappointed. I am certain that the initial interest in the Paralympics was to a large extent due to demand from people who could not get tickets for the Olympic Games and wanted to visit the stadium. Once the games started people were interested in the games in its own right as a sporting event featuring the best athletes in their respective events and athletes like David Weir and Ellie Simmonds became household names.

Ellie Simmonds

David Weir

Attitudes to disabled are still not perfect and frequently there are stories of people making derogatory statements about disabled people.









Yesterday (11th May 2014) the disability charity Scope launched a TV advertising campaign "End the Awkward" which is described by Scope as "specifically to get a new, younger generation thinking about what we can do to include disabled people more in our lives."

Hopefully these adverts will continue to help change attitudes.  People with 22q have some incredible talents and it is important for all of us to recognise people for what they are good at rather than focusing on what they cannot do.

How do I make friends?

People with 22q frequently have issues in the area of social skills and communication. Part of this can be as a result of problems with speech and language (as outlined in my Day Twelve  post "Something Special") and the fact that frequent illness or medical treatment isolates them from their peers.

However this is not the whole story and there is increasing research on the development of the brain and its impact on both verbal and non verbal communication.

Children with 22q will often have immature social skills and will have difficulties understanding social situations as they have problems interpreting the non verbal cues which are a very important part of communication and social interaction.

When very young this does not present much of a problem as at the young baby and toddler stage all children have little understanding of social niceties you just have to see how a young baby or toddler will take a toy from other child. Even before they can speak babies will gradually start to pick up on the non verbal communication such as facial expressions and gestures as well as verbal communications such as the tone of a parents voice or the noises made by peers.

In pre-school years as other children's social skills start to develop these differences become more pronounced. In Sarah's case she started at pre-school when she was about two and appeared to enjoy the experience. However watching her play was quite interesting as she would appear to play alongside rather than playing with other children. Sarah would find it very difficult to initiate play and she always needed the help of an adult to interact with other children. In a large group she would hang about on the periphery trying to join in but not being able to do so.

Sarah is a very sociable girl, enjoys company and wants to be accepted as part of a group but she still has problems initiating play and has limited play skills, which means that her play is often repetitive. This problem is compounded by the fact that her development is around 18 months to two years behind other children of the same age and the differences between Sarah and her peers are becoming more marked.  Like many other children with 22q Sarah is more comfortable with older children (who can lead play) or younger children who are more attuned to her play skills. We are now finding that she plays better with the younger siblings of classmates.

On several occasions Sarah has said that she has no one to play with at break time and we have tried to address this by ensuring that she is able to fill part of the time with lunchtime clubs.  Periodically the school has run social skills sessions for a number of children which Sarah really enjoys. The school has also introduced a buddy system where every day one or more classmates are asked to ensure that they include Sarah in their games. Unsurprisingly other children can quickly lose interest in her because of her immaturity and tendency to be repetitive.  

Often she will prefer the company of adults who she knows well rather than spend time with other children.

There are a number of common characteristic seen in people with 22q including

- Social immaturity,
- Have a tendency to think very rigidly, needing to stick to the rules and avoiding spontaneity. A good example was when Sarah wanted me to search for something online and got quite annoyed when I didn't go through exactly the same steps as she uses at school even though we got to the same result.
- Easily led and will follow the crowd because they want to be friends
- Obsessive behaviours and autistic type behaviours e.g. at the moment she is obsessed with knowing what other people are doing at a particular time of day.
- Difficulty in picking up social cues, working out when to join in with a conversation or when to listen.
- Low self esteem or lack of confidence.
- Inappropriate behaviour

Alongside education, social skills is the main area which gives us concern as we do not want her to become unsociable and withdrawn.

We have try to give Sarah the opportunity for as much social interaction as possible. At the weekend she attends a drama group which is something she really enjoys and is a good way to boost her confidence. She also goes to a Brownies group and has recently joined a special needs Cub Scouts pack.

In the last few months we have seen an increase in confidence, she has asked to go into a shop on her own to buy sweets or a drink and during the last school holiday on two occasions she found a new friend to play with without outside assistance. The best example of her increasing confidence was recently when walking our dog we were talking to another owner when completely unprompted Sarah said to the lady "What is your dog called?" Hopefully this progress will continue but we recognise that this area will present many challenges for us over the coming years.

The Sausage Factory

When considering the state education system in the UK I can't help thinking of its resemblance to a sausage factory. At the age of 4 our little sausage skins arrive at the factory ready to be filled with sausage meat. This is considerably younger than most other European countries many of which have better results but that is another story.

The sausage meat is made to a very specific recipe called the National Curriculum. This not only sets out all of the ingredients (Subjects) to be included in the recipe but also quantity of meat and the speed at which the skin are to be filled (Key Stages). The schools then try their best to ensure all of the skins are filled in accordance with the recipe and periodically quality control in the form of testing is performed. These quality control tests are published in league table which show the best performing factories in the area. As you know many parents pay lots of attention to these tests to make sure their little skins go to the best factory.

In a real sausage factory you know the sausage skin is of a certain quality and that if the factory is run properly at the end of the day you will have a certain number of perfectly filled sausages of identical size and shape.

However, when it comes to schools, the little sausage skins which arrive at the factory are not identical but the education system still runs along factory lines. The result is that although the factory turns out a fairly large number of identical filled sausages a large number of skins do not make the grade.

Virtually all people who have 22q 11.2 DS have development delays and many have learning difficulties. Whilst learning may be challenging its does not mean they are unable to learn it just means that learning may take longer or may be need to be structured in a different way.

This is where problems arise as our big sausage factory with its standard recipe and timetable to do not provide for bespoke learning programs and if the sausage skins cannot cope they fall by the wayside.

Children with 22q often have difficulties in a number of areas including;

Poor working and short term memory
Numeracy
Reading comprehension
Abstract concepts

At they same time they do have strengths in

Rote memory
Long term memory
Creative writing and spelling
Computer skills and word processing
Musical skills
Willingness to learn and eagerness to please

Many children do get Statements of Special Education needs which provide additional help with education but even with support they can find it difficult to cope in class.

In my view our children are stuck between mainstream schools where they may struggle to keep up with the pace set by the National Curriculum and special needs schools which in our local authority appear to be focused on children with severe disabilities or complex learning needs.

Ideally for the 22q sausage skins we need a traditional artisan sausage maker who knows exactly the right individualised recipe to match the skin.  In schools terms this needs to be an individualised curriculum, small class sizes and the time to repeat lessons to reinforce learning.

Lindsey Stedman, Chair of Trustees of The22Crew has a keen interest in educating children with 22q having spent six years home educating her son Harrison. A significant amount of material providing information on common learning issues and suggestions for parents and teachers is available on The22Crew website http://www.22crew.org/education

Sláinte

Going back to early 2006 we had recently discovered that Sarah had the deletion and through our doctor at the local hospital and the geneticist at Guy's we were starting to get lots of hospital appointments so that Sarah could get checked out for the main anomalies found in 22q.

We were very fortunate to have an excellent health visitor who put us in touch with our local branch of The National Portage Association http://www.portage.org.uk/ who arranged for regular home visits to monitor Sarah's development and provided practical advice on how to help Sarah progress towards the usual milestones.

When Sarah was a bit older she was offered a place in Portage's Early Learning Class for two hours a week which not only helped Sarah learn to mix with other adults and children but also provided an element of respite care for Colleen in that it allowed her to have a couple hours of free time each week.

Despite the support mentioned above, as far as 22q was concerned we were still very much alone. Whilst as we have discovered the incidence of the condition is around 1 in 2,000 it is still relatively rare and the various labels attached to the condition do not help its chances of being recognised. Our local Portage group thought they might have once seen another child with 22q at some time in the past but could not be sure.

Our geneticist had suggested a number of websites for us to look at but also warned us that in a lot of the content could be very negative with lots of focus on the most severely affected children who in many cases had sadly not survived.

Much of our time was spent just being "normal parents" and we tried not to dwell on the condition but from time to time our curiosity led us back to the World Wide Web. Towards the end of 2007 we found out that Max Appeal http://www.maxappeal.org.uk/ was holding a family conference at Bristol Zoo. A creche was to be provided and we decided to go along for the weekend.

With a little bit of apprehension we set off for Bristol. We were keen to see older children with the condition and meet other parents but at the same time we were concerned about what we would discover, especially would we see children who were severely mentally or physically disabled. I now see these thoughts as totally irrational but at the time it was a major concern.

Now I have a pretty good sense of direction and can usually find my way around, getting to Bristol was no problem but finding the hotel and negotiating the city centre one way system was a bit of a nightmare and I lost count of the number of times I saw the Clifton Suspension Bridge.

Eventually we found our way to the hotel and had a good night's sleep before the conference which was due to start early the next morning.

In the conference itself we listened to presentations from various medical professionals about key aspects of the condition and we enjoyed the opportunity to speak with other parents and to see the other children who despite our initial fears were having fun and doing the normal stuff that all children do.

As a result we came away from the conference with a better awareness of the condition and a positive feeling.  Between 2007 and 2010 we attended a couple of other conferences arranged or hosted by Max Appeal including the 7th Biennial International 22q11.2 Syndrome Meeting held in Coventry.


Last year Colleen, Sarah and I, together with fellow trustees of The22Crew (Lindsey Stedman and Bridget James) attended the 20th International Scientific Meeting of the VCFSEF (http://www.vcfsef.org/ hosted by our good friends at http://www.22q11ireland.org/.  

It was very noticeable that the content of this type of conference had moved on since we first started attending them. There was much less focus on the physical aspects of the condition such heart defect or palate problems and more focus on the cognitive aspects of the condition, psychiatry, and brain development. There were also presentations on the latest studies being undertaken on individual genes and their impact on brain development. 

Unfortunately not every parent is able to go to this type of conference but through social media we tried to give people an insight into what was going on by posting regularly on The 22Crew's twitter feed @The22Crew and through our Facebook page.  Following the conference The22Crew posted summaries of the various presentations and links to the slides used by the presenters on our website http://www.22crew.org/conference-reports/the-20th-international-scientific-meeting-of-the-vcfsef-dublin-ireland-july-2013 

The conference was a great weekend and the best conference I have attended. Not only were the presentations useful and informative but we had fantastic hosts in Anne Lawlor and her team from 22q11Ireland including Anne's daughter Áine who has 22q. Áine is a very talented young lady who entertained us with Irish dancing, playing the violin and also made a very moving speech about the hard work Anne has done in setting up the Irish support group and support she has provided.

Two other people who it was a pleasure to meet and who deserve a mention are Tessa Koller http://www.tessakoller.com/ who is a young fashion designer with 22q who showed off her designs at a fashion show and Rick Guidotti a fashion photographer who though his organisation Positive Exposure http://positiveexposure.org/ has a mission to "utilizes photography and video to transform public perceptions of people living with genetic, physical and behavioral differences – from albinism to autism."

Conferences have certainly moved on since the first one we attended and through social media we expect to see greater use of webinars and virtual conferences in the future examples of which can be found on the website of the Dempster Family Foundation.

http://www.dempsterfamilyfoundation.org/videos/44  

Something Special

Whilst the majority of cases of 22q are diagnosed as a result of cardiac issues, the second major source of diagnoses is due to issues with speech and language.

When referring to speech we are really referring to the mechanical process of producing sounds whereas language is the art of communication. The term language consists of both expressive language (being able to put thoughts into words and sentences) and receptive language (the ability to understand language). For children with 22q speech and language are usually delayed with receptive language normally developing at a faster pace than expressive language.

As Sarah had been diagnosed with 22q following heart surgery our geneticist had already lined up appointments with our local speech and language team and our first appointment was when Sarah was just over a year old.

The initial appointments could only assess her receptive language as she did not say her first word until around 17 months and was not joining words or making short sentences until she was around 26 months.

At this time we first became aware of Makaton a system of using signs or symbols to communicate and our understanding of this method of signing was helped by the award winning BBC TV children's program "Something Special" where the main character  "Mr. Tumble" played by Justin Fletcher uses Makaton to support speech.

Justin Fletcher as "Mr. Tumble"

I can remember when we were bathing Sarah and playing with bubbles. We kept asking "Do you want some more?" and she responded by placing the palm of her left hand on to her clenched right fist which is the Makaton sign for more.

We suspected that Sarah may have an issue with here palate as she continued to be sick through her nose. However the examination of her palate had to wait until she was speaking. When she did start speaking many of the words she was trying to pronounce were difficult to understand.

By the age of 3 Sarah was ready to have an examination of her palate which was done by videofluoroscopy basically an x-ray video which can show the movement of the palate. The test showed that Sarah has velopharyngeal insufficiency (VPI).

Figure 1

Figure 2

During speech the soft palate moves up and down (Figure 1) and when raised it should press against the pharynx (Figure 2)  creating an airtight seal to stop air escaping through the nose when producing consonants such as "p," "b," "g," "t" and "d."

In Sarah's case the shape of the palate meant there was a gap between soft palate and pharynx allowing air to escape affecting her ability to make certain sounds. It was suggested that because the gap between palate and pharynx was quite small instead of a normal VPI repair the surgeon would try a new technique which involved taking a small amount of fat from her tummy and injecting this into the pharynx to bulk up the size of the pharynx to reduce the gap. Although initially there was a small improvement in Sarah's speech the improvement did not last long and soon things were back to normal.

When Sarah was 5 years old a further videofluoroscopy examination was done and the surgeon recommended a full VPI repair. This was conducted at Evelina Children's Hospital and the morning after surgery she was ready to be discharged although she was not very happy as she wanted to stay in hospital and play with the toys in the play area !

It can take up to a year for the full benefits of a VPI repair to be seen but we saw an initial improvement straight away. Further assessments at the cleft clinic have shown that Sarah has had a very good repair with little air escaping through her nose when pronouncing hard consonants. Her speech is now very good although she still has Speech and Language therapy to help her use of language.

The success of a VPI repair is very dependent on the size and shape of the soft palate and in some cases the soft palate is too small or the movement is too limited to enable the surgeon to effect a repair. It is not a procedure which is appropriate in all cases but in Sarah's case the results have been exceptionally good.  




            

The Miracle of Melatonin

As a baby and toddler we never had a problem getting Sarah to go to sleep. However, as she got older this changed and we found that over time she was taking longer and longer to drop off.

Very few children like to go to bed and most will do anything to avoid having to go to sleep but they normally succumb even whilst vehemently protesting "I am not tired !"

In Sarah's case it was more than the usual reluctance to go to bed and in the past 18 months this has got worse and worse.

Sarah is still anxious about being left alone in her room and likes one of us to stay with her. On a good day we would take her up to bed and she would manage to fall asleep within 30-40 minutes. On a bad day she would not be able to sleep and would get more and more anxious the longer she stayed awake, and the longer she remained awake the angrier she got.

The past seven or eight moths were exceptionally bad and on several evenings a week it could take up to two hours for Sarah to fall asleep. As you can guess this wasn't exactly positive for family life. Several times a week I would come home from work have something to eat then spend the next two hours sitting with Sarah while she tried to go to sleep.  By the time she eventually went to sleep it was virtually time for me to go to bed.

Family support groups such as The22Crew http://www.22crew.org/ are a great source of advice and we found several posts on the group's Facebook site which suggested that sleep issues were quite common for people with 22q and that, in some cases, Melatonin had a positive effect.

Following a discussion with our General Practitioner we were referred to the local Community Paediatrician. He suggested that initially we follow the recommended sleep hygiene practice such as setting a regular routine, no TV or computer games prior to bedtime, before trying melatonin.

We tried everything without success in fact the situation was only getting worse with more bad days than good days. It was as if Sarah's brain was unable to switch off at night. She was falling asleep later and later each night and then struggling to get up for school the next morning.  Having exhausted all the options we got our prescription for melatonin.

At this point Sarah was keen to try the medicine and was quite excited when the time came to collect the prescription. Like most children her age she was desperate to have a sleep over with friends or cousins but this was impossible.

The effect has been unbelievable, she has a small does of melatonin each evening and usually within 30 minutes is ready to go to bed. Once in bed she falls asleep within 5 or 10 minutes and for the first time in ages she is now asking to go to bed and is yawning more than ever.  The result is that out little purple minion has been transformed into a happy minion and both parents are now much happier too.

P.S. I though I should share with you the warning sticker that appears on the bottle of Melatonin 

"This medicine may make you sleepy. If this happens do not drive or use tools or machines" 

 

A Busman's Holiday*

One of the positive things about this 22q journey is that it has enables us to meet some wonderful individuals and charitable organisations which have been helpful to us and many other people. Most of the time they hide from the limelight and their work is not generally know by the general public.

Although not directly related to 22q there is an individual and two groups that I would like to mention in this post.

In my blog "The size of a walnut - Day 3" I wrote about Sarah's heart surgery at Guy's Hospital when we were very fortunate to benefit from the skills of heart surgeon Mr. Conal Austin who performed such an intricate repair on Sarah's heart.

Mr. Conal Austin FRCS

Now many of us think we have stressful jobs but the stress I have at work is nothing to what I imagine Mr. Austin and his colleagues are under. If I have a bad day and make a mistake the bank I work for may upset a client or lose a few dollars. Worst case if I really screw up I might be on the receiving end of a P45 and the opportunity "to pursue other interests" but at the end of the day no-one gets hurt.

In the case of Mr. Austin and his colleagues an error can have fatal consequences. So you would think that when holiday time comes he and his colleagues would head to the nearest beach and do nothing more taxing that read a book. However you would be wrong.

Instead a team of doctors, surgeons and nurses from the Evelina London Children's Hospital donate their free time to go to Sri Lanka to perform heart surgery on seriously ill children.  The missions have two objectives the first is to perform life saving surgery and the second is to allow local surgeons and medical staff to develop their skills by watching and assisting the surgical team from London.

The trips are arranged by a UK charity http://www.takeheartmercymission.com/ of which Mr. Austin is a co-founder and trustee.

Mercy Mission first started when Mr. Austin met a patient called Jai Lameer who was originally from Sri Lanka. As a result of the meeting a team was established to travel to Sri Lanka to perform paediatric heart surgery. A total of 8 missions took place between 2000 and 2010. Following the death of Mr. Lameer in 2011 the new charity Take Heart Mercy Mission was established to carry on this work.

A 9th mission took place in September 2012 when a team of 14 volunteers assessed 137 children, and carried out 17 difficult heart surgeries over a period of six days of which 15 had a successful outcome. I would urge you to take a look at their website which shows video of the 2012 mission.

The second organisation is the Ronald McDonald House at Guy's and St. Thomas' http://www.ronaldmcdonaldhouse.org.uk/.  This was the first Ronald McDonald House in the UK and is run by The Evelina Family Trust. It runs a house with 20 family bedrooms which are offered free of charge to families of children being treated at Evelina Children's Hospital.

We live around 35 minutes by train from Guy's Hospital and when it was first suggested there might be a space at the house for us I thought it wasn't really necessary as we were so close to the hospital.  The Family Administrator persuaded us to take the room and this proved to be invaluable. At the time of Sarah's surgery the hospital was located at Guy's and the house was just 5 minutes walk from the hospital.

It was so good being close to the hospital especially when Sarah was in intensive care. On the day of her surgery I was at the hospital until late in the evening and took comfort from the fact that we were staying just around the corner and not a train journey away.

We stayed there for five nights but some families need to stay for many months and the house provides a refuge and tries to create a small piece of normality.  The House costs around £300,000 per year to run and the charity is raising funds to move to a new location in 2016 closer to Evelina Children's Hospital.

* Busman's Holiday - a holiday that you spend doing the same kind of thing that you usually do for your job.

Delayed, Delayed, Delayed

Global Development Delay a feature of 22q11.2 DS

In the UK a Personal Child Health Record (or Red Book) is given to parents at the time their baby is born. The book provides details on the child's birth, health visitor visits, immunisation record, growth charts and pages for doctors to write notes. As you can guess we had to get a lot of extra pages for notes.

The book even has a space for a photo which in Sarah's case is the photo which was taken in hospital.

Why is it that all the photos taken in hospital look exactly the same ? I am convinced that they don't actually take any photos and there are just standard pictures one for a girl and one for a boy which they give to everyone !!

One key segment of the Red Book is the section on "Your Child's Developmental Firsts" which in the case of a 22q child looks very much like the indicator board shown above. In most of the published information about 22q 11.2 DS there is usually a reference to Global Development Delay.

As Sarah had major surgery at 4 months we expected there to be some delay especially when you have a big scar along your chest !  Some of the early milestone such as rolling over or sitting with support were only delayed by a month or so. However as time progressed these difference became more pronounced.  By 12 months when many other proud mothers were boasting about how their baby was walking well, Sarah was only just staring to crawl. At 16 months when Sarah was just starting to stand alone, around 50% of babies of a similar age would be running.

In Sarah's case she was walking at 19 months and running at 22 months.

In other areas there were also delays especially in the area of speech where her first word arrived around 17 month.  I have heard mothers of "normal" children complaining that they spend most of their time with the child but the first word is "da da" rather than "ma ma". The goods news for them is that with a 22q child "ma ma" comes first and "da da" is often a long way off as problems with the palate mean that strong consonants such as "p," "b," "g," "t" and "d" are difficult to pronounce.

To begin with the delay in reaching the usual milestones was not a problem as we knew, in her own time, these would be achieved.

The biggest issue was the reaction of others as I have already written about in my Day 8 Post "That child needs to see a doctor !"

By the age of 5, Sarah was unable to walk for any distance and we often relied on a buggy. A standard buggy was too small and we were using a special large buggy which had been provided by the local health authority. Sarah was now at school which is about a mile away from our house and at that time Colleen was not driving. Often they would be going to school along the busy High Street with Sarah in her buggy wearing her smart blue school uniform. On many occasions people would stare at the sight of a school age child sitting in the buggy which was very uncomfortable for Colleen who would deliberately stare back at them until they avoided their gaze.  By the time Sarah was 6 we still needed to use the buggy but were concerned about the reaction of the children in her class. The solution was for me to park the car half way so that the buggy would be left in the car and Sarah would walk the final half a mile.

Toilet training was also an area which took a long time. Another uncomfortable situation was when Sarah was at pre-school and having a swimming lesson. In the changing room a girl of a similar age noticed that Sarah was putting on a swimming nappy (diaper) and said "Mummy look at that girl wearing a nappy". After the lesson the instructor took Colleen aside and told her that there had been a complaint from another parent about Sarah. I don't know what her concern was as our actions were those of responsible parents. Unfortunately the prejudices of others are just another thing that parents of all children with a disability have to endure.

The good news is that given time we have got there in the end. Walking is no longer an issue and the best news is that last weekend Sarah and our 9 month old puppy managed to complete a 3 mile walk around the grounds of Hever Castle and Sarah didn't, at any time, complain about being tired.

Hever Castle, Kent

  

That child needs to see a doctor !!

One of the common issues facing children with 22q 11.2 DS is a weakened immune system. This is due to either an under developed thymus or more rarely the thymus may be absent altogether.

The thymus is located behind the sternum and in front of the heart and forms part of the immune system. In the thymus T-Cells are matured until they are required to fight infection.

T-Cells can be one of two types. Some identify the invader and send chemical messages to stimulate the immune system to produce the best weapon to kill the invader, whereas others fight infection directly. Due to an under developed thymus a child with 22q may have lower levels of T-Cells or their T-Cells may not be as effective at dealing with invaders.

In Sarah's case she had a low T-Cell count and was therefore more susceptible to infection. She frequently suffered from upper respiratory tract infections and often required treatment with antibiotics. We tried to minimise contact with people who had coughs and colds and often had to decline invitations to family gatherings or other social events if we knew someone with a cold would be there.

Nurseries and schools are a well known breeding ground for infections and we knew virtually to the day what would happen at the start of each new term.  The school term would start and three or four days later we would see the first signs of a new infection. We would then have 7-10 days of sickness and another does of antibiotics before Sarah was fit again. With luck she would stay well for another week or two before the next infection but sometime it felt like Sarah was constantly sick particularly in winter.

IF YOU ARE EATING YOU MAY WISH TO AVOID THE NEXT PARAGRAPH !!

When Sarah had an upper respiratory tract infection she would produce a very thick mucous which would lay on her chest especially when laying down.  She would cough and cough for ages to try and shift the mucous and would sound like a 60 a day smoker. Eventually she would be sick and would produce what seemed like yards of sticky phlegm. Frequently the best way to free the mucous was to give her a drink of milk, wait a few minutes and stand well back when the next coughing fit started !!

I was regularly told off by Colleen for being too slow with the bowl, muslin or tissues ! It wasn't so bad when we were prepared and knew what was coming but sometimes we would be caught by surprise when Sarah had a coughing fit.

One of the worst cases was when we were in our local High St. outside the now defunct Woolworths. Sarah had a very prolonged coughing fit and obviously the inevitable happened.

On old lady was watching what was going on, gave us a disapproving look and said "That child needs to see a Doctor"

Now being very British we said nothing and carried on clearing up the mess. Looking back the obviously response should have been

"Well, she has seen our General Practitioner and the paediatrician at the local hospital, she has also seen a consultant cardiologist, cardiothoracic surgeon, anaesthetist, geneticist, immunologist and a urologist. Oh and you can also include nurses, radiologists and physiotherapists. So just what sort of doctor do you think she needs to see ???"

The thymus becomes less important as a person gets older and fortunately Sarah's immune system has improved significantly over the past few years. The respiratory tract infections are not as frequent and she is better at dealing with the mucous. In the past two winters I think we can say that she has had no more coughs and colds than other children her age. We still have appointments with Dr. Menson at Evelina Children's Hospital and on occasion Sarah has needed booster vaccinations (such as the pneumococcal vaccine) to ensure that cover remains at the correct levels. Finally we never forget the annual flu jab and aways make sure we all have this as soon as it becomes available.

Strength In Numbers

In my post "Striped Socks - Day Five", I referred to our visit to the Genetic Clinic at Guy's Hospital.

The first thing the geneticist did was to a provide us with a description of 22q 11.2 DS and to ask a number of questions on the medical history of both our families. The standard procedure is to arrange for a blood test on both parents to see if either has the deletion and these tests came back negative which was not unusual as in more than 90% of cases the condition is described as "de novo" i.e. new rather than inherited.  However for a person with the deletion the chance of their children also having the deletion is 50/50.

We were advised that Sarah should see an immunologist and would need an ultrasound on her kidneys. In time we would need to see the cleft team.  We were also given some advice on a couple of websites where more information could be found. That was it, we were at the start of a journey and it felt like entering a dark tunnel not knowing where we were going or what would be happening further down the line.

For some a Journey into the unknown

However for some parents the impact of a diagnosis is the opposite. In such cases they may have seen their child suffer from frequent infections, struggle to meet milestones and have problems at school without knowing the reason why. In these cases following a diagnosis suddenly everything starts to fall into place.

For others everything suddenly becomes clear

In both cases information about the condition is key and whilst there are a number of good books on the subject, today the ubiquitous internet search is the key. This can be both a blessing and a curse with psychologists now warning of a new condition cyberchondria caused by self-diagnosing of ailments via the internet. 

With more than 180 anomalies to choose from the parent of a 22q child has plenty of opportunity to become a full time cybercondriac !

 

The amount of information available on line has increased significantly in recent years and it is not difficult to find a number of informative websites. As a parent I think it is important to learn as much as possible about 22q to spot any issues that may arise whilst at the same time trying to keep things in perspective and not dwell on aspects of the condition which may never arise.

When Sarah was first diagnosed we spent a lot of time looking for information but at the time the flow of information was pretty much one way with an organisation posting information on a website and the user accessing it.  Although bulletin boards provided some sharing of information they were often difficult to use and very restrictive. Furthermore a common feature was the number of articles or bulletin posts focusing only on the negative aspects of the condition.

The explosion of social media has been very positive and when coupled with increased research into the condition there is so much more information available.

Since founding The22Crew in 2011 http://www.22crew.org/home we have gone from strength to strength and now have a community of 488 members in our closed Facebook group.

I use the word community deliberately as there is a real spirit of support and sharing. Literally within minutes of a question being asked or a comment being made there are several replies offering guidance based on real experience which is often more valuable than basic factual information on the condition.  

There is also a great spirit of sharing and communication with other groups both on Facebook and Twitter and The 22Crew has links via social media with, among others 

22qIreland http://www.22q11ireland.org/, 

Dempster Family  Foundation(USA) http://www.dempsterfamilyfoundation.org/ 

22qFamilies BC (Canada) http://22qfamiliesbc.blogspot.co.uk/,

LA22q Support (USA), 

VCFS 22q Foundation (Australia)  http://www.vcfsfa.org.au/pages/home.php 

VCFS Educational Foundation (USA) http://www.vcfsef.org/, 

Sindrome Digeorge Espana (Spain)

as well as non 22q organisations such as
Unique (UK) http://www.rarechromo.co.uk/html/home.asp and
Patches Heart Group (UK) http://patchesheartgroup.webs.com/

The biggest change I have seen in the past 9 years and something which has been very important to The22Crew from the beginning is the desire to focus on the positive rather than the negative and to celebrate the hard won achievements of everyone who has this condition.