22q 11 European Congress 10-11 October 2015

A 3.30 a.m. alarm call is not the normal way to start a Saturday morning but a National Rail strike in Belgium meant that our original plans to travel to Brussels by Eurostar were cancelled and we were now following Plan B.  Plan B involved leaving home at 4.30 to get to the Eurotunnel terminal at Folkestone for our 6.20 shuttle to France followed by a 130 mile drive to Brussels, hopefully arriving in time for the start of the 22q 11 European Congress which had been organised by the Belgian 22q support group Relais 22 . It had been two years since our last 22q conference in Dublin and my wife Colleen and I were keen to catch up with the latest developments. My fellow trustee from The 22Crew, Lindsey Stedman was also attending and was eagerly awaiting our appearance.

In due course we hope to have all the slides presented at the conference on our website (http://www.22crew.org/) together with the notes which Lindsey diligently kept over the two days.  We had hoped to provide Twitter updates during the conference but lack of WiFi in the conference room made this difficult. We know that many of our members and followers are keen to learn more about the meeting and I thought it would be useful to share with you my initial thoughts on the conference and provide little a bit of information on the presentations which will give you a flavour of the topics discussed.

I am please to say that we made it to Brussels just in time to hear the opening remarks of Paul Havelange of Relais 22 and Dr. Bronwyn Glaser from the University of Geneva.

After a brief welcoming statement we were straight into the first presentation of the conference from Professor Donna McDonald-McGinn of the Children's Hospital of Philadelphia (CHOP). Professor McDonald-McGinn gave an overview of how knowledge of the condition has developed starting with the finding of the late Dr. Angelo DiGeorge after whom DiGeorge Syndrome was named. It was mentioned that DiGeorge syndrome is not only caused by 22q11.2 deletion but also by other chromosome abnormalities such as deletions on 10p13, 17p13, and 18q21. DiGeroge Syndrome also occurs due to non chromosome causes. It was interesting to note that this was the only mention of DiGeorge Syndrome during the conference. Finally it looks like the medical community, at least in Europe, is settling on a single term 22q11.2DS.

Testing for 22q11.2 continues to develop and today MLPA (Multiplex ligation-dependent probe amplification) and DNA microarray (also commonly known as DNA chip or biochip) are the preferred diagnostic tests. These are not only more accurate at picking up smaller deletions which may have been missed by the FSH test but have the advantage of identifying the exact genes missing (typically around 50). There is also the advantage that this information can be more readily shared with other professionals working in this field. Professor McDonald-McGinn also mentioned the latest research from Dr. Grati http://onlinelibrary.wiley.com/doi/10.1002/pd.4613/abstract which identified the incidence of 22q in prenatal samples from foetuses without cardiac anomalies at 1 in 992 suggesting that the condition is more common that originally thought.

The second presentation was from Professor Ann Swillen from the University of Leuven (Belgium) on "Developmental Trajectories" of children with 22q.  Professor Swillen outlined the cognitive development of people 22q from pre-school to adulthood and the impact of this on behavioural and psychiatric traits. It was mentioned that people with 22q do not recognise things presented in an unconventional way and that more time needs to be given for the processing of images. Visual perception is important for many things in life including motor skills, academic skills, living skills and social and communication skills. Professor Swillen said it is important to remember that mind and body work together. This was a key theme of the conference, it was said on several occasions that stress and anxiety have a negative effect on psychiatric wellbeing. Professor Swillen mentioned the importance of people with 22q having contact with other people with the condition.

The final presentation before the lunch break was "Why we monitor the condition development of children and adolescents" by Dr. Sasja Duijff a paediatric psychologist from University Medical Center, Utrecht (Holland). Dr. Dujiff said that when we discuss 22q we always talk about averages. However the "average" person with 22q does not exist, although there are common traits which many people with 22q have.

It is quite typical for the IQ of children with 22q to decline from the initial reading however there is a subset of children and adolescents where the decline in IQ is more marked. This subset is more susceptible to developing schizophrenia and it was recommended that IQ is tested regularly (every 2-3 years). Parents should look out for any behavioural differences which appear as early intervention is important. It was said that pets can make a difference to well being and that playing a musical instrument can also have a positive effect.

The morning session finished with a presentation from a parent who spoke about how learning to play the piano had improved her son's wellbeing.

The afternoon sessions focused on Social Development and began with a presentation from Dr. Caroline Demily of Hopital Le Vinatier in Lyon (France) on "An integrative approach to treating social cognition" Social cognition focuses on how we process store and apply information in social situations such as recognising facial expressions, how we perceive other people's emotions and the describing of our emotions. Dr. Demily's team has  developed a cognitive remediation therapy program to help children overcome these difficulties using a cartoon character Cognitus.

This was followed by a presentation from Magali Ngawa from the University of Liege "Language and Social Skills in Infants and Children" who discussed language skills and the link with social and emotional problems. In particular the fact that poor language skills can lead to high anxiety and difficulties in relating to others and the outside world. The theme of communication difficulties and social skills carried on into the next session with a presentation from Dr. Bronwyn Glaser and Dr. Maude Schneider from the University of Geneva "Group training via Skype for improving social skills in the syndrome" who spoke of the issues that adolescents and adults have in developing relationships due in part to their difficultly in reading social cues and understanding other people's emotions and perspectives. The team in Geneva have been using Skype to run a 12 week program for a small group of adolescents with 22q to provide training on understanding emotions, anger management, empathy, non verbal communication, role playing and social awareness  and we saw film of one of these sessions. This was followed by a number of presentation from parents and also from a teenage girl with 22q who has participated in the Skype training sessions. The formal part of the day concluded with workshops on Social & Cognitive development. 

We attended the session which dealt with the issues facing 8-12 year olds and this was a great opportunity for parents to discuss the challenges that our children are facing and how we have dealt with some of these issues. In my view the ability to speak with other parents and to learn from their experiences are invaluable and I would suggest that anyone planning a conference should make sure that they schedule sessions for parents to speak with experts and to discuss issues among themselves.

After a brief visits back to the hotel we were off to a dinner which provided more time to speak with other parents and some of the professionals who were in attendance. This was a very pleasant end to a very full day !

Day 2 

At 9 a.m next morning We were back in the auditorium for the day's presentations which were all covering psychiatric issues. 

The first presentation was made by Dr. Marco Armando (Research Children's Hospital Bambino Gesu, Rome). Dr. Armando started the presentation with some fact about psychiatric issues in the general population which I found quite surprising. 50% of psychiatric disorders start by the age of 14 and 75% of disorders start by the age of 25. Mental health is clearly a major issue for all adolescent. However for adolescents with genetic syndromes psychiatric disorders are significantly more common. 

22q patients with psychiatric disorders show significantly lower role and social functioning. Great advances have been made in treatment during the last 10 years and early intervention is key to successful treatment.

Professor Stephan Eliez (University of Geneva) made a presentation on "Detecting psychotic symptoms". Again it was mentioned that early detection of symptoms is very important and that early intervention can eliminate or delay the onset of psychotic symptoms. The onset of psychotic symptoms can occur at the age of 8-9 but the average age of a first psychotic episode was around 15/17 years old. The key age group to watch is 11-22 year olds. After the age of 22 few new cases were identified. Professor Eliez showed a video of interviews he had conducted with children and adolescents in which they discussed the symptoms they were experiencing. Many children do not discuss the symptoms they are experiencing with their parents and it is important for parents to encourage their children to be open and to discuss their fears and concerns.

Professor Therese Van Amelsvoort (University of Maastricht) discussed "Clinical management in adulthood" and the problems that arise when health care breaks down during the transition from child to adult care at around the age of 18. At 18 patients are considered to be adults and are on their own. Parental consent is no longer required and parents have no entitlement to be advised of the treatment their children are receiving. Appointments can be missed and medicines not taken. Cognitive Behavioural Therapy can be useful but the CBT Therapist should be someone specialising in treating people with learning difficulties. Again the link between anxiety, stress and psychiatric issues was highlighted.

The final presentation of the conference was from Professor Doron Gothelf (Tel Aviv University) who discussed the common psychiatric disorders associated with 22q such as ADHD and the effectiveness of drugs such as Ritalin and Concerta on the treatment of symptoms.

The last session was another breakout session which gave us another chance to discuss our experiences with other parents.

Overall this was a very good conference, many nationalities from around Europe were represented and although many of us spoke different languages there was a common bond and a lot of nodding of heads when presenters spoke about something which we, as parents, were very familiar with.

It is good to see the number of professions involved in research into 22q who appear to collaborate well with each other and I can only see knowledge of the condition accelerating in the coming years. It was great to meet many other parents from across Europe and also other family support groups. At The 22Crew we are great believers in the sharing of knowledge with other support groups and their families. One of the decisions made at the meeting was to look into forming an association of European family support groups which would facilitate the sharing of information across borders.

Finally I would like to thank everyone at  Relais 22  for putting together such an enjoyable and informative conference. 

  

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/