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.

Hope

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 charitable organisations 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 in the field; take part in interactive activities that explore the world of genomics; view stands from exhibitors at the day; 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 a virtual exhibition hall and organisations will be able to man a stand and communicate their work with attendees. As an exhibitor, you will be able to upload resources in the form of documents and videos that showcase the work you do. You can make the stand your own and customise the information and titles you want to include. We’ll be there to help you come up with ideas to draw traffic to you. One of the most useful aspects of an in-person event is networking with people who visit your stand. We really wanted to mirror this at our event and, as attendees visit your organisation’s exhibition, you will be able to chat with them through the chat box or video call features.

A space at the event is free for charities and 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 topics like diagnostics and treatments; and disease specific talks. If you have a topic that you’d like to present, get in touch. We can discuss what topic you have in mind and see if it is possible for us to accommodate.

Got an idea for the Showcase that isn’t discussed here? We’d love to hear from you so get in touch!

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!

Want more information?

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

 

 

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.

Public talk: V for Vaccination – from Cowpox to Covid, 15th Feb. 2021, 2pm **FINAL, ADDITIONAL DATE ADDED**


Join Wales Gene Park on Monday 15th Feb, at 2pm for a FREE public talk on the social history of vaccination and discussion session on what it means now for Covid.

Please note: Due to high demand, this is a repeat of the talk given on the 28thh & 29th January 2021. Please book early to avoid disappointment!

Book a place on the 15th Feb. talk here

For further information please email: walesgenepark@cardiff.ac.uk

 

 

 

Opportunity: Patient & Public Representative, Strategic Advisory Group, Wales Gene Park


Come and join the wider team and help guide the direction of Wales Gene Park as a patient and public representative on our Strategic Advisory Group. For more information about the role, reimbursement and how to apply – please take a look at the advert below:

Role Description

Patient & Public Representative, Strategic Advisory Group, Wales Gene Park

Wales Gene Park (WGP) is an infrastructure support group funded by Welsh Government through Health and Care Research Wales, hosted by Cardiff University. WGP is in its 17th year of consecutive funding from Welsh Government and forms an integral part of Genomics Partnership Wales, an initiative that is delivering the Welsh Government’s Genomics for Precision Medicine Strategy

WGP is recruiting a patient/public representative to join its Strategic Advisory Group. The appointee will attend quarterly meetings (planned to be virtual for the foreseeable future), actively and conscientiously participate in discussions and contribute to strategic developments of WGP, providing advice and reviewing progress against objectives. To fulfil this role, the appointee will need to keep up to date with issues affecting WGP such as developments in genomics in Wales.

Applications are welcome from individuals with a broad range of experiences:

  • direct or indirect experience (as an individual, family member or carer) of genetic testing and/or the process of informed consent for such testing
  • any interaction with the All Wales Medical Genomics Service
  • taken part in a precision or ‘personalised’ medicine trial, e.g. for cancer
  • direct or indirect experience (as an individual, family member or carer) of rare diseases such as Cystic Fibrosis, Huntington Disease, Tuberous Sclerosis
  • direct or indirect experience of living with/supporting children/adults with Developmental Delay disorders
  • are able to voice their opinions in a constructive manner
  • are able to listen to other perspectives and respect other viewpoints

The role will be reimbursed with an honorarium payment and travel expenses in line with Health and Care Research Wales guidance.

Please get in touch if you would like an informal chat about the role. Expressions of interest of no more than 500 words outlining your experience and motivations for applying for this role should be sent to Emma Hughes: emma@geneticalliance.org.uk by 1 March 2021.

Disgrifiad o’r Rôl

Cynrychiolydd Cleifion a’r Cyhoedd, Grŵp Cynghori Strategol, Mae Parc Geneteg Cymru

Mae Parc Geneteg Cymru yn grŵp cefnogi seilwaith wedi’i ariannu gan Lywodraeth Cymru drwy Ymchwil Iechyd a Gofal Cymru, a’i gynnal gan Brifysgol Caerdydd.Mae WGP yn ei 17eg flwyddyn o gyllid yn olynol gan Lywodraeth Cymru ac mae’n rhan annatod o Bartneriaeth Genomeg Cymru, menter sy’n cyflawni Strategaeth Genomeg ar gyfer Meddygaeth Fanwl Llywodraeth Cymru.

Mae WGP yn recriwtio cynrychiolydd cleifion / y cyhoedd i ymuno â Grŵp Cynghori Strategol WGP. Bydd y sawl a benodir yn mynychu cyfarfodydd chwarterol (y bwriedir iddynt fod yn rhithwir hyd y gellir rhagweld), cymryd rhan weithredol a chydwybodol mewn trafodaethau a chyfrannu at ddatblygiad strategol WGP, gan ddarparu cyngor ac adolygu cynnydd yn erbyn amcanion. Er mwyn cyflawni’r rôl hon, bydd angen i’r sawl a benodir gael y wybodaeth ddiweddaraf am faterion sy’n effeithio ar WGP fel datblygiadau mewn genomeg yng Nghymru.

Mae croeso i geisiadau gan unigolion sydd ag ystod eang o brofiadau:

  • profiad uniongyrchol neu anuniongyrchol (fel unigolyn, aelod o’r teulu neu ofalwr) o brofi genynnol a / neu’r broses o gydsyniad gwybodus ar gyfer profion o’r fath:
  • unrhyw ryngweithio â Gwasanaeth Genomeg Feddygol Cymru Gyfan
  • cymryd rhan mewn treial meddygaeth manwl neu ‘wedi’i bersonoli’, ee ar gyfer canser
  • profiad uniongyrchol neu anuniongyrchol (fel unigolyn, aelod o’r teulu neu ofalwr) o glefydau prin fel Ffibrosis Systig, Clefyd Huntington, Sglerosis Twberws
  • profiad uniongyrchol neu anuniongyrchol o fyw gyda / cefnogi plant / oedolion ag anhwylderau Oedi Datblygiadol
  • gallu i leisio eu barn mewn modd adeiladol
  • gallu i wrando ar safbwyntiau eraill a pharchu safbwyntiau eraill

Ad-delir y rôl gyda thaliad honorariwm a threuliau teithio yn unol â chanllawiau Ymchwil Iechyd a Gofal Cymru

Cysylltwch â ni i ofyn unrhyw gwestiynau neu gael sgwrs anffurfiol. Dylid anfon mynegiadau o ddiddordeb o ddim mwy na 500 gair yn amlinellu’ch profiad a’ch cymhellion i ymgeisio am y rôl hon at: Emma Hughes: emma@geneticalliance.org.uk erbyn 1 Mawrth 2021.

Young People’s Genomics Café: 17th Feb. 2021, 6pm


Are you a young person interested in finding out more about genomics and health, or affected by a rare or genetic condition? Join us for Young People’s Genomics Café! These events are aimed at those aged 16 to 25 and are run by Wales Gene Park with Genomics Partnership Wales.  At February’s café we have two great talks lined-up!

  •  Ethical Dilemmas in Genetics and Genomics – Dr Alexandra Murray (All Wales Medical Genomics Service) will pose some though-provoking medical genetics & genomics scenarios, including testing, consent, incidental findings, and other ethical issues
  • V for Vaccination: from Cowpox to Covid – join Dr David Llewellyn (Integrated Wellbeing Networks, Aneurin Bevan UHB) to learn about the social history of vaccination with a discussion on what it means now for Covid

 The café is a relaxed opportunity to find out about new advances in genomic medicine in Wales and a chance for young people to meet, come together, 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.

Register here: https://tinyurl.com/y3u7kknt

Further information email walesgenepark@cardiff.ac.uk  

All Wales Genomics Survey for Nurses and Midwives


Genomics Partnership Wales (GPW) would like invite Nurses and Midwives in Wales to share their opinion about the impact of genomics in your area of work. Your responses will help inform future education and training initiatives and preparation of our workforce in line with the Welsh Government’s Genomics for Precision Medicine Strategy.

Although some nurses and midwives are already involved in genomics, we also recognise that many will be unfamiliar with how genomics is likely to be incorporated within their area of practice.

This survey has been developed by the Genomics Policy Unit at the University of South Wales in conjunction with Genomics Partnership Wales (GPW) which is responsible for the implementation of the Welsh Government’s Genomics for Precision Medicine Strategy.

Your participation is crucial to the success of this initiative and we would ask that you spare a few minutes to complete the survey. Participation in the survey is voluntary and anonymous.

Survey link English

Survey link Welsh