Rare Disease Implementation Network (@nhsw_rdig) 's Twitter Profile
Rare Disease Implementation Network

@nhsw_rdig

Working collaboratively to improve Rare Disease Services in Wales

ID: 1536638490951176192

calendar_today14-06-2022 09:15:48

173 Tweet

257 Followers

67 Following

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I gloi, cawsom sioe wych o undod, gyda phob un o bedair gwlad y DU yn goleuo adeiladau’r llywodraeth i nodi #DiwrnodClefydauPrin ar 29 Chwefror. Llywodraeth Cymru Parc Cathays, Caerdydd Scot Gov Health Cei Victoria, Leith Department of Health Adeilad y Senedd, Belfast Department of Health and Social Care Llundain

I gloi, cawsom sioe wych o undod, gyda phob un o bedair gwlad y DU yn goleuo adeiladau’r llywodraeth i nodi #DiwrnodClefydauPrin ar 29 Chwefror. 

<a href="/LlywodraethCym/">Llywodraeth Cymru</a> Parc Cathays, Caerdydd <a href="/scotgovhealth/">Scot Gov Health</a> Cei Victoria, Leith 
<a href="/healthdpt/">Department of Health</a> Adeilad y Senedd, Belfast 
<a href="/DHSCgovuk/">Department of Health and Social Care</a> Llundain
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Today, the last Friday of April, is Undiagnosed Children’s Day. You will often hear these children referred to as ‘SWAN patients.’ SWAN stands for Syndrome Without A Name and is not in itself a diagnosis.

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Heddiw, sef; dydd Gwener olaf mis Ebrill, yw Diwrnod Plant Heb Ddiagnosis. Yn aml, byddwch yn clywed y plant hyn yn cael eu cyfeirio atynt fel ‘cleifion SWAN.’ Ystyr SWAN yw Syndrom Heb Enw (SWAN). Nid yw SWAN yn ddiagnosis.

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In support of “Undiagnosed Children’s Day” (26 Apr 2024) read Voices blog by Miriam Ingram SWAN UK (syndromes without a name) #SyndromesWithoutAName to help more families affected by a syndrome without a name to find SWAN UK sooner. buff.ly/3Wz8emT #UCD2024 #undiagnosed

In support of “Undiagnosed Children’s Day” (26 Apr 2024) read Voices blog by Miriam Ingram <a href="/SWAN_UK/">SWAN UK (syndromes without a name)</a> #SyndromesWithoutAName to help more families affected by a syndrome without a name to find SWAN UK sooner. 
buff.ly/3Wz8emT
#UCD2024 #undiagnosed
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SWAN patients are people with symptoms of a rare or genetic condition that cannot yet be diagnosed. This is because the condition or combination of symptoms is so rare that our current genetic testing is not capable of making a diagnosis.

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Cleifion SWAN yw bobl gyda symptomau cyflwr prin neu genetig heb ddiagnosis. Mae hyn oherwydd bod y cyflwr neu gyfuniad o symptomau mor brin, nad yw ein profion genetig presennol yn gallu gwneud diagnosis.

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As technology in genetics improves, SWAN patients may obtain a diagnosis. In Wales, we were lucky to have a pilot SWAN clinic, funded by Welsh Government. This clinic is the first of its kind in the UK, we are being observed for the impact we make to patients’ lives.

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Wrth i'n technoleg geneteg wella, efallai y bydd cleifion SWAN yn cael diagnosis. Yng Nghymru, ni'n ffodus i gael clinig peilot SWAN, a ariannwyd gan Llywodraeth Cymru. Y clinig hwn yw’r cyntaf o’i fath yn y DU, rydym yn cael ein harsylwi’n am yr effaith a gawn ar fywydau cleifion.

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Our SWAN clinic sees both children and adults from all over Wales, and is made up of geneticists, clinical specialists, clinical fellows and specialist nurses, who all provide a holistic service provision.

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Mae plant ac oedolion o bob rhan o Gymru yn dod i ein clinig SWAN. Mae genetegydd, arbenigwyr clinigol, cymrodyr clinigol a nyrsys arbenigol, i gyd yn darparu gwasanaeth cyfannol yn y SWAN.

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CEDAR’s (Centre for Healthcare Evaluation, Device Assessment and Research) evaluation of SWAN highlights a significant benefit to patients by providing coordination of care. It has seen a reduction in numbers of NHS appointments following the SWAN appointment, by half.

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Mae gwerthusiad CEDAR (Canolfan ar gyfer Gwerthuso Gofal Iechyd, Asesu Dyfeisiau ac Ymchwil) SWAN yn amlygu budd sylweddol i gleifion drwy gydgysylltu gofal. Mae hefyd wedi dangos gostyngiad o hanner yn nifer yr apwyntiadau GIG mae cleifion yn eu mynychu yn dilyn apwyntiad SWAN.