E G Jessop

Works on highly specialised health services in England. Writes in a personal capacity

[E G Jessop @ThinkRare]

Xeroderma pigmentosum - rare, severe disabling and not just the skin. Excellent work https://t.co/E3PeM1R06u and https://t.co/fvp5Ti6nSE

[E G Jessop @ThinkRare]

Think rare and then think rare AGAIN!
5% of patients have #dualdiagnosis: https://t.co/oq0sENNgtL

[E G Jessop @ThinkRare]

Phase 1 hope for #NF1 patients: https://t.co/aPBSSDcX0P A long road ahead but the journey of a 1000 miles starts with... #selumetinib

[E G Jessop @ThinkRare]

Excellent JAMA piece - listen to unprompted posts by patients/friends/relatives as well as structured surveys https://t.co/novLvzxJ6I

[E G Jessop @ThinkRare]

@RichardTaunt Life is for the living - pulmonary hypertension up to and beyond heart/lung Tx. Travail, joy , gratitude.

[Rare Disease UK @rarediseaseuk]

Primary Ciliary Dyskinesia (PCD) is an inherited, #raredisease associated with the abnormality of cilia. @PCD_UK

[SWAN UK (syndromes without a name) @SWAN_UK]

Pls RT @rcgp to support families of children with #undiagnosed genetic conditions, #Undiagnosed Children's Day, 24 April

[E G Jessop @ThinkRare]

Interesting meeting today: even with a rare disease 'ThinkEvenRarer'. Stephen Hawking has an unusual motor neuron disease: is it really MND?

[E G Jessop @ThinkRare]

Haematuria - probably isn't, but could be #TTP

[Funny Lumps @FunnyLumps]

@GeneticAll_UK Please RT to raise awareness of Neurofibromatosis and lots of amazing kids. http://t.co/l0TGORoDHI #nfblog

[E G Jessop @ThinkRare]

'Cerebral palsy' but rather too many infections? Could be #ataxia-telangectasia.

[E G Jessop @ThinkRare]

Dilated cardiomyopathy in paediatrics? Think Barth! Expertise available in Bristol.

[E G Jessop @ThinkRare]

Insulin requirement > 200 units / day? Could be #lipodystrophy

[E G Jessop @ThinkRare]

A baby with freckles? Could be #xeroderma pigmentosum.

[E G Jessop @ThinkRare]

99.999999% of abdominal pain is not porphyria, but that doesn't mean no one has porphyria!

[E G Jessop @ThinkRare]

Difficult diagnosis: aches and pains/ rash. A periodic fever syndrome??

[EURORDIS-Rare Diseases Europe @eurordis]

New video series for primary doctors on Lymphangioleiomyomatosis (LAM) http://t.co/6qyuiOTkyt
#RareDisease

[E G Jessop @ThinkRare]

@FelicityJTaylor @ThinkRare was going to do something clever there - looks like / quacks like a duck, is actually a spoonbill... maybe not.

[E G Jessop @ThinkRare]

@FelicityJTaylor How do you know they are ducks?

[E G Jessop @ThinkRare]

'Cerebral palsy' but is better am than pm? ThinkRare - neurotransmitter disorder??