SWAN UK Virtual Information Event/Digwyddiad Gwybodaeth Rhithwir: 21.04.21

SWAN UK Virtual Information Event 

  • Does your child have global development delay (GDD) or learning/physical difficulties that are unexplained?
  • Has your child had genetic tests and the results have come back negative or of unknown clinical significance?
  • Are you a professional that wants to find out more about SWAN UK and the work we do?

Come along to our information event and find out more about undiagnosed genetic conditions and hear first-hand from families who are affected by them.

Register for the event here.

Programme here.

Digwyddiad Gwybodaeth Rhithwir SWAN UK

  • A oes gan eich plentyn oedi datblygu byd-eang (GDD, Global Developmental Delay) neu anawsterau dysgu / corfforol sy’n anesboniadwy?
  • A yw’ch plentyn wedi cael profion genetig ac a yw’r canlyniadau wedi dod yn ôl yn negyddol neu o arwyddocâd clinigol anhysbys?
  • Ydych chi’n weithiwr proffesiynol sydd eisiau darganfod mwy am SWAN UK a’r gwaith rydyn ni’n ei wneud?

Dewch i’n digwyddiad gwybodaeth i ddarganfod mwy am gyflyrau genetig a heb ddiagnosis a chlywed yn uniongyrchol gan deuluoedd sy’n cael eu heffeithio ganddynt.

Cofrestrwch yma.

UK Rare Diseases Framework Westminster Hall Debate

UK Rare Diseases Framework Westminster Hall Debate took place on 24th March.

The Chair of the All Party Parliamentary Group on Rare, Genetic & Undiagnosed Conditions in Westminster, Liz Twist MP secured a debate on the UK Rare Diseases Framework. Members raised important points around expansion of newborn screening programmes, access to timely diagnoses and treatments for rare conditions, education of health professionals and collaboration between UK nations in developing Action Plans to implement the Framework.

The debate was oversubscribed by members. The full transcript and a video recording of the debate can be viewed here in text or on video.

In respect of Welsh representation, Christina Rees, MP for Neath spoke about the rare condition, phenylketonuria and access to the treatment Kuvan and Liz Saville Roberts, MP for Dwyfor Meirionnydd spoke more generally about Welsh implementation of the Framework and urged for publication of Action Plans in each nation during 2021.

For more information about rare disease policy work, please contact Emma Hughes: emma@geneticalliance.org.uk


Families in Wales affected by undiagnosed and rare conditions to be better supported thanks to a three year project funded by the National Lottery Community Fund in Wales.


SWAN stands for ‘syndromes without a name’. It is not a diagnosis, but a term used to describe a genetic condition so rare it is often impossible to diagnose.

SWAN UK (syndromes without a name) is a support network run by Genetic Alliance UK. It is the only dedicated support in the UK for families of children affected by a syndrome without a name. We enable families to make contact with others who understand the unique challenges of raising a child affected by an undiagnosed genetic condition, offer access to information and support through our online forums and our Local Networks, run regular free events to bring families together and provide opportunities to make precious memories.

Thanks to a three year National Lottery Community Fund in Wales grant, SWAN UK and Genetic Alliance UK are now able to develop their existing successful model of support across Wales.


It is currently estimated that each year in Wales around 300 children are born with a syndrome without a name. These children often have a mix of learning and physical disabilities and many have significant health needs.

Consultations with existing SWAN UK parents and families based in Wales in 2019 highlighted the desperate need for more specialised support for those who face the unique demands of raising a child without a diagnosis in Wales.

Some of the challenges raised by families included poor coordination of care, few opportunities to connect and meet with other families in a similar situation and how lack of  diagnosis means that there are no obvious parent/carer support groups to turn to for help.

As well as these issues, families in Wales often face the additional challenge of being dispersed across largely rural communities. The rurality of the Welsh landscape often makes travel to and from appointments expensive, lengthy and means that there are much fewer local specialist services available.


  • Identify and engage more Welsh families into the existing SWAN UK – Cymru peer support network so that they feel less isolated.
  • Deliver bilingual information, support, activities and events specifically tailored to the needs identified by Welsh families.
  • Network with local services and organisations to help educate local professionals on the needs and challenges faced by SWAN UK families in Wales and the vital importance of effective care coordination.
  • Develop and produce a bilingual early intervention toolkit – Rare Resources Wales – which will provide a wide range of general information on genetic, rare and undiagnosed conditions as well as advice on how to access reliable information, care and support in Wales.

‘I was so glad to find SWAN UK! Suddenly we no longer felt alone. I couldn’t believe how many other families were going through the same thing as us’ Tammy from Bargoed near Caerphilly.

For more information please email cymru@undiagnosed.org.uk


Rhoi cymorth gwell i deuluoedd yng Nghymru y mae cyflyrau heb ddiagnosis a phrin yn effeithio arnynt, gyda phrosiect tair blynedd wedi’i ariannu gan Gronfa Gymunedol y Loteri Genedlaethol yng Nghymru.

Gwybodaeth am SWAN UK

SWAN yw ‘syndromes without a name’. Nid diagnosis mohono, ond term a ddefnyddir i ddisgrifio cyflwr genetig sydd mor brin nad oes modd gwneud diagnosis ohono’n aml.

Rhwydwaith cymorth yw SWAN UK (syndromau heb enw) sydd yn cael ei redeg gan Genetic Alliance UK. Dyma’r unig gymorth yn y DU sydd yn arbennig ar gyfer teuluoedd plant sydd â syndrom heb enw. Rydym yn galluogi teuluoedd i ddod i gysylltiad ag eraill sydd yn deall heriau unigryw magu plentyn sydd â chyflwr genetig heb ddiagnosis. Mae ein fforymau ar-lein a’n Rhwydweithiau Lleol yn rhoi modd i gael gafael ar wybodaeth a chymorth, ac rydym yn cynnal digwyddiadau am ddim yn gyson i ddod â theuluoedd ynghyd a rhoi cyfleoedd i greu atgofion gwerthfawr.

Gyda grant Cronfa Gymunedol y Loteri Genedlaethol yng Nghymru, mae SWAN UK a Genetic Alliance UK bellach yn gallu datblygu eu model cymorth sydd eisoes yn llwyddiannus ar draws Cymru.


Ar hyn o bryd, amcangyfrifir bod 300 o blant yn cael eu geni â syndrom heb enw yng Nghymru pob blwyddyn. Yn aml, bydd gan y plant hyn gymysgedd o anableddau dysgu a chorfforol a bydd gan lawer anghenion iechyd sylweddol.

Wrth ymgynghori â rhieni a theuluoedd SWAN UK yng Nghymru yn 2019, gwelwyd bod angen enbyd am fwy o gymorth arbenigol i’r rheiny sydd yn magu plentyn heb ddiagnosis dan amgylchiadau unigryw yng Nghymru.

Yn ogystal â’r problemau hyn, mae’r ffaith bod teuluoedd Cymru wedi’u gwasgaru ar hyd cymunedau gwledig gan mwyaf, yn ychwanegu at yr her. Mae natur wledig tirwedd Cymru yn golygu bod teithio yn ôl ac ymlaen rhwng apwyntiadau yn ddrud, yn cymryd cryn amser, ac yn golygu bod llai o wasanaethau arbenigol ar gael yn lleol.


  • Adnabod a denu rhagor o deuluoedd yng Nghymru at rwydwaith cymorth SWAN UK – Cymru fel nad ydynt yn teimlo mor unig.
  • Darparu gwybodaeth, cymorth, gweithgareddau a digwyddiadau yn ddwyieithog sydd yn arbennig i anghenion teuluoedd Cymru.
  • Rhwydweithio â gwasanaethau a sefydliadau lleol i helpu addysgu gweithwyr proffesiynol lleol am anghenion a’r heriau i deuluoedd SWAN UK yng Nghymru, a phwysigrwydd cydlynu gofal yn effeithiol.
  • Datblygu a chynhyrchu pecyn cymorth dwyieithog ar ymyrraeth gynnar – Adnoddau Prin Cymru – a fydd yn darparu ystod eang o wybodaeth ar sut i gael gwybodaeth, gofal a chymorth sydd yn ddibynadwy yng Nghymru.

‘Roeddwn i mor falch dod ar draws SWAN UK! Nid oeddem ni’n teimlo ar ein pen ein hunain wedyn. Doeddwn i methu credu faint o deuluoedd eraill oedd yn mynd drwy’r un peth â ni.’ Tammy o Fargoed ger Caerffili.

Am fwy o wybodaeth, anfonwch e-bost at cymru@undiagnosed.org.uk


Public Genomics Café: 29th March 2021 – book now!

Are you affected by a rare or genetic condition? Are you a member of the public interested in finding out more about genomics and health? Join us for a Virtual Genomics Café! This initiative is being run by Wales Gene Park in collaboration with Genomics Partnership Wales.

March’s café will feature relaxed talks from speakers including:

  • Eat to Fit Your Genes: Dr Maninder Ahluwalia (Cardiff Metropolitan University) discusses genetics & diet
  • The Rare Navigator Project & work of Same But Different: Dr Ali Kay (Same But Different)
  • Experiences of a Rare Disease Advocate: Alan Thomas (Ataxia and Me)

And more…..

The Virtual Café will be a relaxed, informal opportunity to meet others and find out about new advances in the area of genomic medicine in Wales. It will also be a chance for people to come together, be supported by others in their communities and let us know how we can better support those affected by rare or genetic conditions.  The café is FREE to join via Zoom, but you will need to register via Eventbrite to receive the joining link and instructions (you will also need to set up a free Zoom account).

Register for Virtual Café: https://rb.gy/j7lfhx

Don’t forget to bring your cuppa and a snack to enjoy during the café!

Further information: email walesgenepark@cardiff.ac.uk





Dafydd’s story – Rare Disease Day 2021

Louise Wilkinson – Rare Disease Advocate and Genomics Partnership Wales Patient and Public Sounding Board Member – shares her family’s personal experiences of her son Dafydd’s rare condition and diagnosis through genomic testing. 

Dafydd – One in a Million

Dafydd was a happy smiley baby and despite a difficult birth (born 2 weeks early by emergency C-section) he had no obvious problems. He developed normally and although we thought he was a bit slow with some things, and was a good sleeper, we had no idea anything was wrong. Until Dafydd got to about 10 months old.

Dafydd was starting to move around he could roll, push himself up on to all fours, sit up, hold his head up, grab toys, move toys between his hands, eat finger food, point at what he wanted and drink from a bottle.

Something’s not right

From the start of July 2019 he began to regress and lose skills. He became ‘floppy’, could no longer sit up to feed, could no longer feed himself finger food and had no strength in his muscles or had very stiff movements (which he had always had). He began to lose weight and was sleeping for very long periods of time.

Initially the Health Visitor said it was probably nothing serious but to book an appointment with the GP. A week later, when we visited the GP, Dafydd had deteriorated further and the GP was so worried she sent us straight to Glangwilli Hospital for initial tests. From there he was sent to Noah’s Ark Children’s Hospital in Cardiff for further testing under the neurological team. He stayed for almost 2 weeks. He had every test we could possibly imagine. MRI, CT Scans, lumber puncture, EEG, ECG, bloods, sleep scan, eye test, developmental tests, physiotherapy, Speech and Language Therapy. Every test came back negative.

Dafydd had to be fed through a naso-gastric tube as he could not hold his head up to eat. Initially they told us we would not be sent home without a diagnosis. However it looked like a diagnosis would not be forthcoming so the last test was a genetic test (Whole Exome Sequencing) and we were sent home. The test had only been available to the team in Cardiff for a few months and they warned us it could take a while for results to come back, or the results might not explain Dafydd’s symptoms.

Dafydd at the Noah’s Ark Children’s Hospital, 2019

A diagnosis – Dopa Responsive Dystonia (DRD)

The results came back sooner than we thought the diagnosis was Dopa Responsive Dystonia (DRD). A genetic disorder that he had inherited from us (his parents). Both of us have passed on a faulty gene meaning his body cannot make tyrosine hydroxylase an enzyme that helps the body produce dopamine, which transmits signals between nerve cells in the brain to help control movement. Luckily we were told that there was medicine that could help, which is often used by adults with Parkinson’s disease. Dafydd has been on his Levodopa medicine for over a year now, he has regained all of the skills he lost and learned a lot of new ones, taking his first steps – unaided – just before his second birthday. The medicine was just one part of his treatment as physiotherapy, OT and SALT played a huge part in re-learning and developing new skills.

Dafydd’s Dad had to give up work to care for him as his feeding, medicine, and appointment regime was quite complicated. Lockdowns and the global pandemic meant face-to-face appointments had to stop but as Dafydd progresses we don’t need quite so much support.  We know we are very lucky as his condition is treatable with medicine, and we got a quick diagnosis, but our fear is for Dafydd’s future as cases in children his age are rare. Worldwide cases (all ages) are estimated 1 in a million. Doctors are unsure how his development may progress, and the level of care he will need going forward. We are very concerned about his long term physical development but also his social and emotional development.


Since Dafydd was diagnosed we have found a Dopa Responsive Dystonia group on Facebook. This is for people with DRD, and parents or carers of those with DRD, there are over 1,000 members worldwide. The group has been so supportive, to be able to connect with people across the world who can tell you what it is like to have a child with DRD is a lifeline. We asked a lot of questions of the group when we first joined and are now able to answer some questions that newer members have. Dafydd’s condition is rare, perhaps only a handful of people in Wales have DRD, but globally he is part of a much larger Rare Disease Community.

Dafydd in 2021

Read the BBC Wales news item featuring Dafydd’s story and the launch of the Wales Infants and Children’s Genome Service (Wings), here 

Publication of Report on Welsh Cross Party Group for Rare, Genetic & Undiagnosed Conditions

A new report has been published by the Welsh Cross Party Group for Rare, Genetic & Undiagnosed Conditions to coincide with the Rare Disease Day 2021 UK-wide Parliamentary Event on 24th February.

The Welsh Cross Party Group for Rare, Genetic & Undiagnosed Conditions held its inaugural meeting in the Senedd in September 2019. Over the last 18 months, the group, chaired by Angela Burns MS and administered by Genetic Alliance UK, has heard a broad range of experiences. Bringing together people affected by rare conditions, patient group representatives, health care professionals and researchers, this report identifies a series of recommendations which would improve the lives of people affected by rare conditions across four broad themes: the effect of rare diseases on mental health, access to orphan medicines, the impact of COVID-19 on those affected by rare conditions and a future Welsh Action Plan to implement the UK Rare Diseases Framework.

The full report can be viewed here

For more information, please get in touch with Emma Hughes, Policy & Engagement Manager (Wales), Genetic Alliance UK – emma@geneticalliance.org.uk



GPW Genomics Showcase 14th May 2021: Opportunity for involvement

Virtual Event – 14th May

Opportunity for involvement!

Would you like to be involved in Genomic Partnership Wales’ biggest event of 2021? The Genomics Showcase will take place virtually on 14th May 2021 and we want to offer your organisation the chance to be part of it.

What is the Genomics Showcase?

The Genomics Showcase is an event designed to showcase the field of genomics, and its potential to improve healthcare to the people of Wales. There will be something for everyone with events for the public, patients, schools, colleges, health professionals and researchers. Attendees will have the opportunity to attend talks from experts, take part in interactive activities that explore the world of genomics, view stands from exhibitors and participate in many more activities.

How can you be involved?

Although the event is online, we want to recreate the feel of an in-person event as much as possible. There will be virtual exhibition halls and organisations will be able to man a stand and communicate their work with attendees. You will be able to choose between the Public Exhibition Hall and the Professionals Exhibition Hall, which will be limited to health professionals and researchers.

As an exhibitor, you will be able to upload resources in the form of documents and videos that showcase your work. You can make the stand your own and customise the information and titles you want to include. One of the most useful aspects of an in-person event is networking with people who visit your stand. We want to mirror this at the showcase and, as attendees visit your organisation’s exhibition, you will be able to chat with them through the chat box or video call features.

There is no charge to take part in the event, but spaces are limited so if you are interested in having a stand get in touch at the email address below. Places will be allocated on a first come first served basis.

Throughout the day, we will be hosting talks from a wide range of speakers. There will be general genomics talks, sessions dedicated to specific areas such as diagnostics and treatments and disease specific talks. If you have a topic that you’d like to present, get in touch. We can discuss the subject you have in mind and whether it can be accommodated.

Do you have an idea for the Showcase that isn’t mentioned here? If so, we’d be pleased to hear from you so get in touch.

Going forward, the GPW Genomics Showcase will be an annual event and a highlight of the year. Don’t miss the opportunity to be part of the first one!

Want more information?

If you want to discuss this further or to reserve an exhibition space, please email WalesGenePark@cardiff.ac.uk. Please put “GPW Genomics Showcase 2021” in the subject box.

The GPW Genomics Showcase will be an annual event and a highlight of the year. Don’t miss the opportunity to be part of the first one ever!


Get Involved with Rare Disease UK’s activities for Rare Disease Day 2021

Rare Disease UK  would love you to be part of Rare Disease Day 2021, here’s how you can get involved:
  • Talk to them on social media: The easiest way to take part in Rare Disease Day 2021 is to make sure you are following Rare Disease UK on Twitter, Facebook and Instagram so you can re-share their content. Tag them in your content so they can share it and add it to their social media stories. Remember to always use the hashtags
  • Rare Reach Festival: The themes for Rare Disease Day this year are: Rare is many; Rare is strong; Rare is proud. As part of the Rare Reach Festival Rare Disease UK wants you to share your old and new social media content that helps demonstrate these themes – don’t forget to use the relevant hashtags!
  • Watch and share the UK’s official Rare Disease Day video launching on Friday 5 February on all social media channels.
  • Share your story: Rare Disease UK will be sharing stories on social media throughout February. If you would like to make a short video or write a blog  about your experiences get in touch by emailing rarediseaseday@geneticalliance.org.uk.
  • Take part in the social media challenge: Rare Disease UK will be launching a social media challenge asking you to share your rare on Monday 15 February. Keep an eye on social media channels for more details.
  • Virtual Parliamentary Event: As the usual Parliamentary events can’t take a place this year, Rare Disease UK be hosting a virtual event to hear from people affected by rare conditions, explore the new UK Rare Diseases Framework which promises to improve the lives of all those affected by rare conditions and hear from health ministers from across the UK about how they are planning to implement the Framework in their nation.
  • Twitter takeover: with an exciting line-up including representatives from NHS England, the Association of British Pharmaceutical Industry, MP Liz Twist and individuals affected by rare conditions who will be hosting Twitter takeovers in the week leading up to Rare Disease Day. Make sure you are following Rare Disease UK’s Twitter account so you can be part of the conversation.
  • Share the Rare Disease Day assets: Download the Rare Disease Day 2021 social media assets to use on your own social media accounts

If you would like any further information, please contact the Genetic Alliance UK Policy & Engagement Manager (Wales), Emma Hughes – emma@geneticalliance.org.uk.

Virtual Rare Disease Day 2021 UK wide Parliamentary Event – Registration Open

When: Wednesday 24 February, 10.00 – 12.00 via Zoom
Sign up here: http://eepurl.com/ho7qA5

Plans for this year’s Rare Disease Day activities are well underway albeit a little different to usual.

This year the annual event will be a joint parliamentary event with the other nations of the UK and will focus on the implementation of the new UK Rare Diseases Framework that was published last month.

Speakers will include Health Ministers and policy makers from across the UK, parliamentarians and patients and carers affected by rare and genetic conditions. You can join for the whole event or specifically for the Welsh section which will take place from 11.00 – 11.30am.

Please share the invitation with others who may have an interest in attending.

If you would like to be notified about our activities for Rare Disease Day and receive regular newsletters, you can join Rare Disease UK as a supporter

You can also follow us on Twitter, Facebook or Instagram:

Twitter: @rarediseaseuk

Instagram: @rarediseaseuk

Facebook: https://www.facebook.com/RareDiseaseUK/

For more information, you can also contact the Genetic Alliance UK Policy & Engagement Manager (Wales), Emma Hughes – emma@geneticalliance.org.uk.