Comments for Rare Disease Blogs

Comment on Report from Washington. The 1st US Conference on Rare Diseases and Orphan Products. by francy

francy — Tue, 22 Nov 2011 15:46:43 +0000

salve,ho un bimbo di 2 mesi,e mi è nato con una malattia rara la cmtc (cute marmorata tielegectatica congenita.sono disperata,non so come fare per sapere qualcosa in piu’!mio figlio ha la gamba sinistra assimmetrica e poi presenta queste vene vascolari dal tronco avanti e indietro ,e di tutta la gamba .volevo sapere se ci sono bimbi in italia che hanno questa malattia per un confronto.

Comment on Do we need to rebrand rare diseases? by AfternoonNapper

AfternoonNapper — Thu, 17 Nov 2011 09:43:54 +0000

Interesting point—there is some solidarity among rare disease patients. I particularly invite you to read Just Because I Have The Same Disease As You That Doesn’t Mean I Like You—But That’s OK at http://afternoonnapsociety.blogspot.com/2011/11/just-because-i-have-same-disease-as-you.html.

Comment on Do we need to rebrand rare diseases? by Julian | sofas

Julian | sofas — Mon, 14 Nov 2011 16:59:15 +0000

I completely agree, the word “rare” is Latino-Hispanic, I have a small family with degenerative skin disease in Spain has been difficult to identify, has now picked a name or classification of England, a country where had to go to start the treatment means, we do not know the exact origin of this disease, also known as the small will react to the vast research that is being submitted, I feel better now and my cousin also begins an unknown period of great enthusiasm for improvement.

Comment on Report from Washington. The 1st US Conference on Rare Diseases and Orphan Products. by Nick Sireau

Nick Sireau — Thu, 10 Nov 2011 11:58:33 +0000

Thank you for the report Yann. It’s good to see such positive progress. The concept of progressive marketing approval is an interesting one, particularly for the ultra rare diseases where patient numbers are low and the disease itself is challenging to track.

Comment on Do we need to rebrand rare diseases? by Nani

Nani — Fri, 04 Nov 2011 23:34:12 +0000

Why rebrand it? Rare Disease is fine. I kind of agree with what Eric Nelson says above; with more public awareness & education we all understand the meaning of RD as a group of special unknown diseases.

Comment on Do we need to rebrand rare diseases? by Jane

Jane — Fri, 04 Nov 2011 14:20:06 +0000

I think the term rare diseases (or should it be rare disorders?) needs a clearer description.
The term Orphan is very confusing and probably not understood by the majority of people. I believe that it should be reserved for the Pharma industry and another less confusing term found for consumer use.

I would like to comment here that in the case of some diseases and disorders, prevalence figures are either non-existent or totally unreliable because different studies have been based on different diagnostic criteria, and sometimes figures may even have been deliberately inflated in certain countries to try to attract sponsorship or research funds or to entice industry to develop drugs, thereby wrongfully excluding some diseases and disorders from being classified as rare.

Comment on Report from Washington. The 1st US Conference on Rare Diseases and Orphan Products. by Sarah Whittall

Sarah Whittall — Thu, 03 Nov 2011 12:48:34 +0000

Very interesting read. I am a parent of an 11 year old boy with a Rare Kidney Disease who went into kidney failure, now transplanted, and he is also under a Renal Radar (Rare disease Registry) in England, UK.
I agree with a lot said in the above although i imagine things are done differntly in every Country. There is a great need of more research into rare conditions and more awareness.

Comment on Do we need to rebrand rare diseases? by Helen

Helen — Wed, 02 Nov 2011 09:16:12 +0000

I think ‘rare diseases’ works as a brand name: it is what they are, and its describes their commonality. The problem is that it is not understood. Until RDs is a commonly understood brand, I think what may be important is the 2nd sentence, the byline, the explanation. When talking to people:
“I work in rare diseases” – quizzical look – “what are rare diseases?” – and here a short descriptive explanation would be great. Imagine if this sentence were the same across rare diseases, across Europe, in all languages: that could create a strong brand image.

“What are rare diseases?”
how about: “Genetic, fringe or neglected diseases that are commonly underfunded, underrepresented and often have no treatment and no cure”.

Comment on The system’s broken… and here’s how to fix it by Cheryl Rick Klein

Cheryl Rick Klein — Mon, 31 Oct 2011 18:09:46 +0000

Hi Nick,

I have to say your blog was so well written and to the point.
I have a rare disease with no cure and I also have two daughters
who are both about the age my disease, Parry Romberg Syndrome,
first appeared at about 11 years old.
I also seek funding and grants to help my cause as I have wrote many blog
comments here on this site and many others as well.
I have shown I am a true advocate for my illness and can represent as a pati
much needed information .
I slowed down my blogging in 2011 because I received no
responses to my requests to participate in medical studies and publically
speak at conferences.

The system is a mess and my words have fallen on deaf ears.

Comment on Do we need to rebrand rare diseases? by Stephen - Rare Disease UK

Stephen - Rare Disease UK — Wed, 12 Oct 2011 14:36:24 +0000

Whilst I am aware of the challenges posed by the term “rare disease” (believe me I really am – my whole job basically come down to trying to change these perceptions) I don’t really see any better alternative.

If you try and dress rare diseases up as something else, you’re losing the very thing that binds them together, the fact that they are rare. What I think is needed is to look at rare diseases collectively as well as individually, whereas in the past I think each disease was only looked at individually. This is why Rare Disease UK’s catchphrase is “Collectively, rare diseases are not rare”.

One of the major dangers about incorporating rare diseases under banners such as “neglected” is that there are other well known neglected conditions which would dominate the discussion. E.g. if you looked at the term “cancer” there are hundreds of rare cancers, but discussion around “cancer” would always be dominated by the “big four”. Framing rare diseases in terms of severe forms of common diseases will also lead to the same problem – it will just be overlooked.

At least the term “rare disease” is pretty self explanatory – “fringe disease” is not.

Nick, in terms of your suggestions, as you recognise – all of these are problematic.
- orphan diseases – agree they create confusion and should be left to speaking about medicines only
- genetic diseases – not all genetic diseases are rare, and not all rare diseases are genetic
- extreme diseases – not all rare diseases are extreme
- inherited diseases – not all rare diseases are inherited and common inherited conditions would continue to dominate the discussion.

Although imperfect, the one thing that binds over 6,000 diseases is that they are rare and we have to accept this and make a more concerted effort to counteract traditional perceptions of rare diseases. The rare disease movement in the UK is young and underfunded and we’re not going to get to where cancer is today overnight – that shouldn’t stop us from trying though!