Family Stories

What’s life like raising a child with an

undiagnosed genetic condition?

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Fundraising News

Catch up with all the brilliant fundraising that’s

happened lately

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Bristol night out

SWAN UK members out on the town

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SiblingsA day in the life, by Jessica May

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GeneticsExome or Genome

sequencing? What’s the difference?

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syndromes without a name

Support for families of children with undiagnosed genetic conditions

SWANchildrenUK @SWAN_UK SWANchildrenUK

Newsletter 12: Autumn 2014

SWAN UK is an initiative of the charity Genetic Alliance UK, registered charity no’s 1114195 and SCO39299

info@undiagnosed.org.uk undiagnosed.org.uk 0207 704 3141

SWAN UK updateWelcome to your new look SWAN UK newsletter – we hope you like it as much as we do! Over the next few months we will be switching over to sending out all our communications electronically to help us keep down costs. We know however that this won’t suit everyone so if you would prefer to carry on receiving yours through the post please let us know by emailing info@undiagnosed.org.uk or giving us a call on 020 7704 3141.

Our new Local Networks pilot is now starting to get underway. Lauren, the SWAN UK Coordinator recently met with the eight SWAN UK members who have volunteered to be our first SWAN UK Parent Reps and many of them are already busily planning events in their areas. At its core a SWAN UK Local Network is a community - a community of SWAN UK members who live near each other coming together to share the highs and lows of raising a child with an undiagnosed genetic condition. It is a way for SWAN UK members to meet in person, make friends locally and share information and their experiences. To find out more please visit out website - undiagnosed.org.uk/localnetworks

Are you going to Kidz North this year? Held at EventCity in Manchester on Thursday 20th November, SWAN UK will be at stand D28a so pop along and say hi.

Lastly we are also sad to announce that Asya, our Information and Support Officer has resigned from her post. We wish her all the best with her next challenge.

Bristol night out by Louise James

Trying to get out the house with children is hard; trying to get out the house when one of those children is disabled is even harder. What about trying to organise a night out when you have probably never met most of the people you are meeting? Or when most of the people live miles apart and hotels and trains need to be sorted? On the 5th July a group of us met in the centre of Bristol for a night out - some posh nosh and a few cocktails. It’s so amazing to meet face-to-face with people that have become like family online - calling across the room to a person you have never met before in the flesh and embracing you like you are best friends, even though they are strangers. It is just the most surreal but incredible feeling. We share so much of each other’s lives each day, yet for many of us this is the first time we had talked face-to-face. I remember one conversation (clearly before the wine kicked in!) about how sure we were that we had met before, but of course we hadn’t - it was just because we had talked so many times on the SWAN UK Facebook page. After the meal we headed off to find a bar and had a few more drinks. We talked about our children, our families, local services and got to know each other a little bit more. We discussed how our children and lives are very different but we all shared that one big thing in common, SWAN UK. It was so amazing to meet everyone and I can’t wait to do it all again. See you soon!

Please note that this newsletter is for information purposes only. All information is correct to the best of our knowledge at the time of going to print.Any organisations or products included does not imply that they are recommended by or endorsed by Genetic Alliance UK or SWAN UK.

It has been a sad few months for the SWAN UK community with some of our Swans taken too soon. Our new look newsletter is dedicated to their memory, they live on always in our hearts.

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PROJECT UPDATE

Lauren, the SWAN UK Coordinator and the SWAN UK Parent Reps

Freddie’s storyMy son Freddie was born 2011. He is happy, fun loving, affectionate, determined and all round superstar. He is a brother, a beloved son and a Swan. Freddie has global developmental delay, a small cerebellum, thin corpus callosum and reduced white matter, hypoplastic optic disc and suspected auditory neuropathy disorder.

At my 20 week scan it was found that Freddie had fluid on the brain. This was terrifying news as no one could tell us what this meant. We were referred to Birmingham Women’s Hospital where, even after numerous tests and fortnightly scans, no one could tell us exactly what was wrong with our unborn baby or what his future would hold. The experience of being pregnant with my first child wasn’t as I had dreamt - it was exhausting and heartbreaking.

We were regularly offered a termination (up to 39 weeks) because the doctors could only tell us what it wasn’t, not what it was, and they felt there was no way to tell what quality of life this child would have. Towards the end of my pregnancy we went to see a paediatric neurologist. He looked at the MRIs and said our baby would have at least an 80% chance of having mild to moderate developmental difficulties but couldn’t say exactly what at that time. We were still very much in the dark and very frightened. We didn’t have anyone to turn to but

with the crazy hope that he might have a 20% chance of being okay we knew were going to continue along this path - this baby was very much wanted.

This was the scariest time of our lives as we had no

idea what was going to happen to our child and what would

happen to us as a couple. There were no support networks and no

advice or support offered to prepare us. Freddie was born early at 35 weeks and we spent a week onthe special care baby unit where the staff looked after us wonderfully. However, even though we had been told

about his brain injury, were seeing the GP weekly to have his

head measured (laughable now as he has microcephaly) and seeing the

local health visitors every week, not one single professional offered any advice or help. No one thought to talk to us about early intervention or what was open to us, which was very disappointing.

I have met a number of parents over the past three years who have a child with a disability but one that is diagnosed, such as CP or down syndrome. All of these people had information, leaflets and support in place from birth. Having all your hopes and dreams for your child and your own future shattered is devastating but without any help or advice it is an incredibly scary place to be.

It wasn’t until Freddie was six months old that his father and I thought he wasn’t hitting his developmental milestones and took him to the doctor. She explained what we needed in terms of physiotherapy and suggested that I make an appointment to see our paediatrician to request this service. He was fairly vague about things and seemed to just refer us because I was making a bit of a fuss. It took until Freddie was nine months old to receive any help at all.

“I no longer feel alone in my

crusade to give Freddie the best possible life and opportunities.”

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FAMIL-Y STORIES

Chae & Louella’s storyChae was born a perfect healthy little boy in Spring 2011. With the exception of a few minor things he was reaching all his milestones. When he got to around six months old however he began to noticeably slow down.

It was May 2012 when the term ‘muscular dystrophy’ entered our lives. Chae had began to rapidly deteriorate and ended up with pneumonia leaving him severely disabled, fed through a gastrostomy tube in his stomach and using a Bipap (equipment used for night time ventilation). What had been occasional use of oxygen became a regular occurrence. Chae had all kinds of tests undertaken in the hope of finding a diagnosis, but his condition appeared to be too complex for a simple diagnosis.

I found out I was expecting Louella just weeks before I saw the paediatrician about Chae. Throughout my pregnancy I was told that it was extremely unlikely I would have another child like Chae, especially as I was having a girl. This was later changed to a one in four

chance of happening again.

Louella was born in Winter 2012. She, like Chae, seemed perfectly healthy

but this time I had my eye on her looking for the signs. At first there were none at all, her reflux and colic were just put down to a newborn thing. As she approached six months however I was starting to worry. She had always choked on liquids,

especially her water and juice. It wasn’t improving and seemed to

actually be getting worse.

However, once we moved to a village nearby we met a very caring and knowledgeable health visitor who was genuinely interested and wanted to help us. It was very upsetting filling out his eight month check and having to answer “no” to 99% of the questions - he couldn’t even sit at that time. She referred us for portage and a number of other services.

In early 2012, we met our wonderful physiotherapist, who has been our rock in getting Freddie to where he is now, taking up to 20 independent steps. We also have input from various other services. Most important of all though, we are lucky enough to have a very supportive family and network of close friends.

Just because a child is undiagnosed they should not be left to “just wait and see how they develop”. If Freddie had been my second child I wouldn’t have been so naïve and I would have known sooner and fought harder in the early days. However it shouldn’t matter if he was my first or my fifth. I’m convinced a big part of not being offered support earlier was due to not having a diagnosis.

There are always so many unanswered questions for us, including whether Freddie will ever have spoken language, will he be able to read and write and will

he lead any kind of “normal” life and for that matter, will we? No one has ever been able to answer this for

us, without a diagnosis there is no precedent. I spent a long time searching for another

Freddie, someone who was similar and maybe someone older so that I could

see what might be ahead for my wonderful boy. For a long time I found no one and Freddie didn’t fit into any sort of category. I found it very difficult to explain to people why he isn’t walking and talking etc.

One day my Mum called and said she had been doing some

internet research and had come across an organisation called SWAN

UK. I called the number that day and was very soon a member of a wonderful community

of families in exactly my position. After some time I did find two children with very similar challenges as Freddie at similar ages and made a number of great friends I have never met. There is an absolute wealth of knowledge, compassion and support within the SWAN UK community and I only wish I had found them sooner. If it wasn’t for them I wouldn’t have known about so many of the things I do now. I have been supported and helped so often along the way with advice from experienced parents. I no longer feel alone in my crusade to give Freddie the best possible life and opportunities.

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I decided I needed to get her tested. We took her

to see a neuromuscular consultants who said she seemed perfectly fine but wanted to keep an eye on her. Her bloods were taken on the following

Monday and we expected a long wait

for any results.

The next morning, we had a phone call to say Louella has the same condition as Chae. As you can imagine this was an extremely tough thing to hear. It was totally heart breaking looking into our smiling baby’s eyes and knowing this condition was going to consume her just as it was her brother.

We remained positive however and tried to make the best of a bad situation. That is the best you can do when these things are presented to you.

We discovered SWAN UK through a social networking site. It was like arriving home, it was so welcoming, the difference between feeling totally alone in the world, to suddenly having a new family who know exactly how you are feeling. They helped us with all aspects of our life as special needs family and we feel proud to call our children ‘swans’.

As of yet we still don’t know the future prognosis for Chae and Louella. They are both continuing to deteriorate, but SWAN UK is a huge support in helping us not only deal with these emotions of not knowing, but also provide us with the facts and up to date info on diagnosing our children.

Chae and Louella have been referred to the local hospice for palliative care and a source of support and help through this journey of the unknown. Because we don’t know the type of congenital muscular dystrophy Chae and Louella have professionals have to try and make a prognosis based on the speed at which they are deteriorating.

Currently they can both bottom shuffle but they suffer all over body weakness inside and out. Both have spinal problems and ankle contractures (fused ankles), both require night time ventilation, Louella has a milkshake supplement through an ng tube in her nose due to poor eating and Chae is completely dependent on the same shake through his g-tube (gastrostomy tube). They both require in excess 30+ pieces of equipment to get them through the day and they see between them an

average of 15 different teams/professionals (soon to increase with new problems arising monthly)

But, in the middle of all this chaos, there are two little people who are the happiest little children ever. They are both so smart and I often wonder about the amazing things they are capable of achieving.

Chae is at a skills level of four to five years at just 3 yrs old, with physical skills of an eight month old. Louella is just the same, and understands far beyond what you would expect. They both make us very proud every day.

And lastly, not forgetting to mention, their big brother Bion, who is currently four and is a perfectly healthy, happy, cheeky little boy and is one amazing little guy. He is Chae and Louella’s guardian angel, their knight in shining armour. He completely understands them and never expects more from them than they are capable of. I couldn’t wish for a better big brother for them and he truly deserves a medal for his patience and

understanding. It’s very hard for siblings as they are essentially pushed to the side in a way.

He is so very special to us.

The next step in Chae and Louella’s journey will be an operation which they are both having, a procedure called a fundoplication which is to tighten the oesophagus to prevent reflux and vomiting.

Louella will also be having a gastrostomy, which is a peg in her stomach like Chae has, so we can feed her through it long term. They both have a tough journey ahead of them and we hope to have many more years with them both. Our only wish for our children is to see them happy, as long as they have a smile on their face we have achieved our goal. We have learnt to dance in the rain and remain positive no matter what life throws our way, they inspire us every day, they cope with so much yet remain so positive.

“We have learnt to dance in the

rain and remain positive no matter what life throws

our way, they inspire us every day, they cope with so much yet remain so

positive.”

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THANK YOU

Did you know that over the last three years over 200 wonderful people have fundraised for SWAN UK? Alone, or in teams, they have walked, ran, cycled, swam, bungee-jumped, parachuted, organised fun days, bake sales, balls, parties, painted faces, dieted, shaved their heads, dressed up and done all sorts of other things to support SWAN UK. Many of our fundraisers are SWAN UK members, or their family or friends – people who have a personal link to a child with an undiagnosed genetic condition and really understand the difference that SWAN UK can make to families. Others have been members of the public who have heard about SWAN UK and have been moved to support us.

How do we use the money they raise? SWAN UK started in May 2011 with a grant from the National Lottery, through the Big Lottery Fund. The grant covers the costs of providing a basic service to families in England. We have also recently received a second grant from the same fund to help us to establish the first SWAN UK Local Networks in England. We need extra funding for everything else that SWAN UK provides – Family Fundays, family days out, the balloons we send to children in hospital, our Information Days and our work in Scotland, Wales and Northern Ireland. We depend on additional grants, donations and the money raised by our fundraisers to provide these activities. We are also increasingly aware that both our National Lottery grants will run out in 2016 meaning that some of the money our fundraisers raise may be put aside to support SWAN UK’s work in the longer term.

So, as you can see, we really do depend on our fundraisers and the money they raise for us and we would like to say a huge thank you to them all! If you would like to fundraise for SWAN UK, I’d love to hear from you.

You can e-mail me at fundraising@undiagnosed.org.uk. And don’t forget to check out our website – there are lots of ideas and tips and hints to get you started. Just go to undiagnosed.org.uk/fundraise-for-swan-uk

“Our fundraisers

constantly amaze and inspire us with their creativity and their determination to raise money.”

On Thursday 24th July, SWAN UK was

one of the beneficiaries at the House of Fraser annual charity event.

The event was a golf day and evening dinner in the beautiful surroundings of The Grove in Hertfordshire. 400 guests who attended in the evening saw a video about SWAN UK, as well as hearing from SWAN UK parent Amanda Green and Genetic Alliance UK’s director, Alastair Kent, OBE. This was a fantastic opportunity to raise money and much needed awareness of undiagnosed children and SWAN UK.

We were put forward to become a beneficiary by House of Fraser employee and SWAN UK member Amanda Green. Her heartfelt and inspiring speech on the night brought everyone in the room to their feet and reminded people what it means to have an undiagnosed child.

The total amount raised is still being counted up and the money will be used towards funding more local meet ups and sending our balloons to children in hospital.

Thank you to House of Fraser and to Amanda for their support.

If you, or someone you know works for a company with a charity scheme, or charity of the year and you would like to nominate SWAN UK, please contact fundraising@undiagnosed.org.uk for more

information.

Helen Parr, Fundraising Manager.

10 year old Holly Pope held a cookie sale at her school fete

Joseph with balloons sent with funds raised

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FUNDRAISING NEWS

A day in the life of a SWAN sibling. By Jessica May Smith, Age 11

“I love the fact there are

places he can go where he can do things, but I really want him to be able to do the things

we can do.”My sister Hannah and I have a younger brother called Cameron. He has a condition called Agenesis of the Corpus Collusum, which means he has a part in his brain called the Corpus Collosum missing. This reduces his learning abilities. He also has epilepsy, which triggers seizures. Over time he has learnt to control some of the seizures, but my sister and I have to help him. Sometimes it can be quite hard, because the seizures aren’t his fault, but we try our best. He likes having us for company, and I treat him like I would a ‘normal’ sibling, because to me that’s what he is. It’s difficult when he has hospital appointments, because sometimes I question whether it’s going to make him better or worse. I think that if I could see the test results, I could make sure it would make him better. He may never stop having seizures, or learn to talk, but I accept it and carry on, because he is who he is, and I can’t change it.

There are times when I wish he could join in with mine and Hannah’s games, or go on the play equipment at the park. I love the fact there are places he can go where he can do things, but I really want him to be able to do the things we can do, like using the climbing frames, dance, sing and talk with us. It makes me feel a little sad that he can’t do these things, but I hope maybe one day he will.

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SIBL-INGS

Genome VS exome sequencing.What is a genome?A genome is the complete set of information that is needed to build and maintain a single individual, like a big instruction book. The human genome is split into 23 sections of information known as chromosomes, which can be thought of as chapters in the book. Each of these sections contains hundreds of millions of chemical letters known as DNA.

What are genes for?Genes are particular sequences of DNA, which are a bit like the words in each chapter of the book that makes up your genome. Within a gene there are coding regions of DNA known as exons, and non-coding gaps known as introns. Each gene contains specific instructions to make proteins. Proteins are large, complex molecules that carry out lots of different jobs in the body, from helping your muscles to contract so you can bend your arms and legs, to carrying oxygen around your body through your blood stream.

We often talk about genes having different characteristics and this is where proteins play a part. When we talk about the genes for eye colour, for example, what we are talking about is a code for the protein that gives our eyes colour. Genes can come in different versions, so some people’s versions of the gene will code for proteins that make their eyes look blue, while other people’s versions will make proteins that make their eyes look brown. Sometimes however, the genes that code for proteins have alterations in them which mean that the gene and its protein do not work in the usual way, a bit like a spelling mistake in a word.

Does all of our genome code for proteins?It may seem surprising but only around 1% of the human genome is made up of DNA that codes for proteins (exons). The rest of it is made up of non-coding DNA (introns). Coding and non-coding DNA is made up of the same letters but it doesn’t have the same meaning. As a result, although all of our genome is made up of DNA, only a tiny proportion of it actually codes for proteins in a way we understand. Quite simply, we don’t actually know what much of the remaining bits of our genome do.

Although it doesn’t directly code for proteins, some non-coding sequences enable our cells to produce different amounts of proteins at different times because they contain instructions that tell the cell how to switch genes on and off. Other non-coding sequences are part of genes, but don’t directly code for proteins. These are thought to help the cell to generate a number of different varieties of the same protein from just one gene.

What is the exome and why is it important?We refer to the protein-coding part of the

genome as the exome, as it is made up of exons. Although the exome only comprises

a very small fraction of the genome, alterations in these sequences of DNA are thought to contain 85% of the variations that can cause genetic conditions. Researchers can use a technology called sequencing to look at the order of letters in your exome and determine whether

or not there are any alterations by comparing it to a reference exome. It’s

just like reading a book and checking to see if there are any spelling mistakes. By

focusing on sequencing and analysing just the 1% of the genome that codes for proteins,

researchers believe that they are likely to find disease-causing alterations. Only looking at such a small fraction of the genome also makes it cheaper, faster and easier to sequence and analyse.

So why is whole genome sequencing important too?

While many genetic alterations that cause disease are found in the exome, not all of them

are. In fact researchers are finding out more and more about the genome every day and some non-coding parts of the genome are now considered to play a role in genetic conditions. Alterations in this part of the genome cannot be picked up by just looking at the exome but can be found using methods such as whole genome sequencing. As whole genome sequencing becomes faster and cheaper, it is likely to eventually replace whole exome sequencing, allowing us to gain a deeper understanding of our genome and how its alterations are related to genetic conditions.

Genes are particular

sequences of DNA. Each gene contains

specific instructions to make proteins which

then carry out lots of different jobs in the

body.

Only around 1%

of all your genes (genome) makes proteins, this 1% is called your

exome.

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GENETICS

syndromes without a name