Raynauds Scleroderma Global Patients: Helena Gaspar, Portugal. June Scleroderma Awareness Month 2017. Raynaud's, Autoimmune Rare Disease. Patient Profiles DAY 17

Helena Gaspar, Portugal

Patient Profiles DAY 17

June Scleroderma Awareness Month 2017

Raynaud's, Autoimmune Rare Disease

Helena Gaspar, Portugal

Name: Helena Isabel Moreira Gaspar

Location: Lisbon, Portugal

Diagnosis: Limited Systemic Sclerosis (CREST)

Year of diagnosis: 2008

Age at diagnosis: 38

Where / who diagnosed you?

I was diagnosed by a Rheumatologist.

What were your presenting symptoms?

The strongest symptom I had, or at least the strangest one, was Raynaud's Phenomenon quite pronounced. I always had very cold hands, feet and nose.

I realized later that there were other signs in my body that already indicated the presence of Scleroderma but, until that moment, I had no idea.

How long did it take for you to be diagnosed after first symptoms?

I can not remember for sure but I think it took about 2 years.

I passed several doctors, whom I complained about Raynaud’s, but it was not given any importance. I was even seen by an Internal Medicine Physician!

Fortunately my Gynaecologist listened to me and asked for several blood tests, among them the ANA, whose result was positive. From there it was faster.

I first went through a Haematologist and then went to a Rheumatologist who did some more blood tests. First I had the diagnosis of Lupus.

I also did a capillaroscopy and more blood test that gave an anti centromere of 1/640. Finally, it was concluded that I had Limited Systemic Sclerosis.

Current reality:

After all these years, I think I'm doing very well!

I have two jobs that I can keep, one as a Programmer at an Insurance Company and another one as Spinning Instructor.

I still can give 6 classes per week and I'm extremely happy for that.

I live alone with my two 16 year old sons and, although, often with effort, I can be totally independent.

The Raynaud’s remains, but very controlled with medication.

Various telangiectasias in the face, mouth, chest and hands.

I’m having some musculoskeletal limitations and many calcifications in several joints, especially in the hands.

There are days the fatigue is extreme but, since I maintain a very active life in physical terms, I am forced to overcome it.

In the last two years due to the reflux, I began to have more complicated problems in the esophagus.

I was diagnosed with Barrett's Esophagus that may become something more serious, but for now it is been controlled.

I developed thyroid nodules and another autoimmune skin disease called Grover's Disease, but things are under control too.

There is also a severe constipation at the intestinal level and I had to removal some polyps (adenomas with low-grade dysplasia) three times.

I really think that it does not have anything to do with Scleroderma, but it is more a factor of concern and imbalance for my body.

I am very determined not to let the disease advance and I will do everything I can to prevent this from happening.

The medication I am currently taking is:

Injectable methotrexate

Corticoids

Vasodilators

Pantoprazol

D vitamin

Folic acid

Various medications to help improve esophageal motility and intestinal transit

Gluten and lactose free

What are your 3 biggest current challenges due to your diagnosis?

Keeping my lungs healthy will be one of the biggest challenges

Keeping me without ulcers and calcinoses and maintain hand mobility

Control Barrett's esophagus

What are your 3 top tips for living with your diagnosis?

Continue doing exercise, and for as long as possible.

Continue giving Spinning classes to "help" my lungs to remain elastic, delay fibrosis and most of all, to improve my mental and physical stability.

When I’m on my bike I feel I can do everything!

Maintain medical follow-up and strictly follow medication prescribed

Keep smiling, thank and give value, every day, to the little things of life

What are your 3 wishes for the future?

Be healthy to see my children grow up

I hope the investigation continue and maybe one day we all can say: "I have Scleroderma, a disease with a cure!"

Join more and more patients in Portugal and work as much as possible so that Scleroderma is no longer unknown

Please include anything which you think is important to share to provide a full understanding of this diagnostic reality:

'I believe that we have to do, as much as possible, an exhaustive awareness all over the world.

It's not easy but we have to expose ourselves showing all of the symptoms and effects that scleroderma has and how it affects our lives.

That's the only way for having hope that the research will continue.

It's also very important that all around us, family, friends, colleagues, etc... have the conscience of what we are dealing with every day.'

Huge thanks go to Helena for sharing her scleroderma reality and experience for scleroderma awareness month, and for all that she does for her fellow patients, throughout the year.

To read more about why I chose ‘Patient Profiling and Research’ as the focus of my 2017 campaign, Click here

Why Research and Patient Profiles? Scleroderma Awareness Month 2017, Raynaud's, Rare Autoimmune Disease, Click here

2017 INDEX Scleroderma Awareness Campaign Patient Profiles, Click here

INDEX to Scleroderma Awareness 2016 Campaign, Click here

June 2016.

To read my articles:

Rare Disease Day 2018, Research - Taking Part in Clinical Trials, Click here

March Autoimmune Disease Awareness Month 2018, Click here

Global patient video, Click here

Becoming a Patient Research Ambassador for the NIHR, Click here

If we only had more RESEARCH investment for Scleroderma, Raynaud's, Autoimmune Rare Disease, Click here

Scleroderma Awareness Month 2017 Patient Profiles Campaign, Click here

Scleroderma Awareness Month 2017 Patient Profiles Campaign Patient Index, Click here

The Pandora’s Box of the rare autoimmune disease Scleroderma, Raynaud's and Cancer, Click here

Key Event Dates 2018, Click here

Importance of an Early Diagnosis, Click here

Taking Part in Clinical Research Trials, Click here

The Importance of a Multi Disciplinary Medical ‘Dream Team’, Click here

Expert Specialist Centres, Click here

My Skin is Cured from Scleroderma, Click here

UK Guidelines for Managing and Treating Scleroderma, Click here

Fatigue, Click here

Mobility, Click here

Diet and nutrition, Click here

Raynaud's, Click here

World Scleroderma Day 29^th June 2016, Click here

World Scleroderma Day 29^th June 2017, Click here

Why Global Collaboration is important to the Rare Disease Patient, Click here

RARE DISEASE DAY:

The theme to this years Rare Disease Day is Research

Rare Disease Day 2018 – Research, Taking Part in Clinical Trials. Scleroderma, Raynaud's, Autoimmune Rare Disease, Click here

2016 Rare Disease Day Patient Voice

2016 Rare Disease UK Parliamentary Reception

2017 Rare Disease Day Flashback

2017 Rare Disease Day unmet clinical needs to the scleroderma patient

Rare Disease Day is a fantastic opportunity for the entire rare disease community to shine a spotlight on their reality, combining as one unified voice. Where, at least one commonality presides –

Medical Research provides the brightest light

for the illumination of the rare disease patients’ plight.

I highlighted other areas of medical research interest within Week 3 of my Patient Profiles Campaign for Scleroderma Awareness Month 2017.

VIDEO

INDEX

Although rare disease patients are few in number, eg. 2.5 million scleroderma patients worldwide, (the World Scleroderma Foundation), the commonalities and golden hallmark for each rare disease patient are the same:

Early Diagnosis

Expert Specialist Centres

Access to Innovative Medicines

Where MEDICAL RESEARCH investment is VITAL.

Research is the key. Abstracts from 2016 World Congress, Click here

Scleroderma Awareness Month Campaign 2016, Click here

Links

View video, here

Preamble - here

The Family Day at the Scleroderma Unit, The Royal Free Hospital is taking place on the 19^th May 2018. Browse the program, here

This year, I am celebrating 20 years of being a patient at this world leading expert specialist research centre.

Sept 2017

I am eternally grateful to the global scleroderma trail blazers Dame Prof Black and Prof Chris Denton, whose commitment and dedication to unlocking the scleroderma enigma, is nothing other than, superhuman.

I am truly humbled and inspired by their work ethic. I am wholly appreciative for Prof Denton’s continued medical expertise and support, especially during my barrister qualifying years, 1997 - 2004.

1^st March 2004, I qualified as a self employed practising barrister. Further to having been told in 1997, by my diagnosing doctor, that I was looking at a 15month prognosis.

I very much hope to utilise my professional skills and qualifications along with my patient experience, to help achieve the #SclerodermaFreeWorld dream, hoping to improve understanding and best practice, in the meantime.

For latest updates follow: