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.