Research is the Focus of Rare Disease Day 2017

Nicola Whitehill avatar

by Nicola Whitehill |

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rare disease day 2017

Living the Dream Scleroderma Style

The theme for this year’s Rare Disease Day on Feb. 28 is “Research,” which is a most-welcome topic to Raynaud’s and scleroderma patients across the globe. Investment in medical research provides immense hope and some comfort to the rare disease patient living with a currently incurable diagnosis.

Last year, Rare Disease Day 2016 — making the voice of the patient be heard — was the focus of my first column for “Living the Dream, Scleroderma Style” here at Scleroderma News.

A disease or disorder is defined as rare in Europe when it affects fewer than one in 2,000. A disease or disorder is defined as rare in the United States when it affects fewer than 200,000 Americans at any given time.

In May 2016, I had the pleasure to co-present with the lovely Aortic Dissection survivor, Timo Soderlund from Sweden, and Rob Pleitcha (also lovely) from RareConnect, on “How to start an awareness day for your rare disease.

At 43 minutes into that video, I discussed meeting the needs of the rare disease patient, namely:

  • Early diagnosis to prevent life-threatening damage, therefore increasing life survival
  • Education and awareness, with a holistic approach from a multidisciplinary medical healthcare specialist center
  • Research and development investment with immediate access to innovative treatments
  • Specialist centers are essential for best practice in managing the medical needs of the rare disease patient

The Rare Disease Day website states:

“80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.

“Over 6,000 rare diseases are characterized by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease.

“Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. Quintessentially disabling, the patient’s quality of life is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.”

These statistics highlight the magnitude of combating the rare disease plight. However, although there are currently 6,000-8,000 identified named rare diseases. They all bear the same hallmarks, whereby an early diagnosis and access to innovative medicines is crucial to increase survival rates.

I have previously written about the importance of an early diagnosis, as well as the importance of expert specialist centers. This is particularly relevant to Raynaud’s and scleroderma patients because no two patients present with exact identical symptoms, making for a medical diagnostic and treatment challenge to the healthcare practitioner, and a journey of anxiety and hope for the patient.

However, as I highlighted in a previous column, Scleroderma and the Role of Medical Research, the landscape for the Raynaud’s and scleroderma patient in relation to medical research has never looked so encouraging. This is particularly enhanced by the launch of the Journal of Scleroderma and Related Disorders (JSRD) at the Fourth Systemic Sclerosis World Congress, which I wrote about here.

There is just a year left until the Fifth Systemic Sclerosis World Congress will be held in Bordeaux, France Feb. 15-17, 2018.

It is my current BIG goal/personal challenge to be physically able to move this tin man body out of hibernation and attend the Fifth Systemic Sclerosis World Congress. However, I must be realistic, as I have been wanting to attend all of the previous World Congress meetings, but sadly the physical exertion of traveling, combined with a few days away from my home comforts (bed/couch/dream team) has been too much to contemplate.

However, this year, other than my medical appointments and any APPG Rare Disease meetings, my time this year is dedicated to getting this body into training to realize the World Congress attendance dream. (I wrote about The Scleroderma Olympian last summer.)

Here in the U.K., the government has committed to implementing the UK Strategy for Rare Diseases by 2020. To view the document click here.

I will be writing more about this and the significance to Raynaud’s and scleroderma patients in due course. Other European policies and U.S. policies can be viewed here.

Sadly, this year I will not be in attendance at the Rare Disease UK Parliamentary reception at the Houses of Parliament (my favorite place). Having attended last year, this experience still remains one of my few patient highlights of the past 20 years.

To read my articles about this, click disease patient highlight and Rare Disease UK reception Nicola Whitehill

Here is the link to the official Rare Disease Day 2017 video. I think this video is a fantastic reflection of the rare disease patient’s faith placed in the hope that medical research brings.

To keep up to date with events, please follow the Rare Disease Day updates here at Scleroderma News, as well as on my ‘Raynauds Scleroderma Awareness Global Patients’ Facebook page.

Due to the necessary requirement for funds for medical research, I have set up the following Just Giving Pages for Raynaud’s medical research at the Raynaud’s Unit, The Royal Free Hospital, as well as, scleroderma medical research at the Scleroderma Unit. One-hundred percent of any donation will be used to fund medical research led by Professor Chris Denton and Dr. Kevin Howell, both super geniuses in this niche rare disease medical field, and who share the same dream #SclerodermaFreeWorld #RaynaudsFreeWorld.

Please check out these links:

We have to find that cure and improved treatments. Let’s tell the world about the rare disease of scleroderma on Rare Disease Day 2017 … Living the dream, scleroderma style.

Note: Scleroderma News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Scleroderma News, or its parent company, BioNews Services, and are intended to spark discussion about issues pertaining to scleroderma.


Christine Cordova o Randy Duran avatar

Christine Cordova o Randy Duran

I am writing on behalf of my brother. His Dr. has decided that the best treatment for him would be the IIVIg. He had a port placed on him. However, his insurance company is denying this treatment. Do you have any suggestions on how to approach this matter. He can be contacted at 505-866-5543, Randy Duran or you may contact me at [email protected]

Thank you so much for attention to this matter and for all your hard work. We hope to hear from you soon.

Nicola Whitehill avatar

Nicola Whitehill

Hi there I am so sorry to read this. Over here in the UK, I am eternally grateful for the NHS. Here are the UK guidelines which show a case for the symptoms which your brother presents.
Presumably you have furnished the insurance company with the professional medical expert's opinion, as well as, highlighted to them the need for urgency?
I wish you well with your endeavours... sending wellness wishes to your brother, hoping that he gets the best treatment he has been paying insurance for, immediately.
Thank you for your kind comments - #SclerodermaFreeWorld


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