Show Your Rare 2019

Every year patientprimary takes part in many initiatives around the world supporting Rare Disease Day and patients with rare diseases.  The day is celebrated to raise awareness and funds for the millions of people who live with a rare disease.

Across the world, around 350 million people are fighting a rare disease.  Quite a large number for something so ‘rare’! There are around 7 thousand different rare diseases and approximately 50% of these do not have a specific foundation to support sufferers or to conduct research into their disease.  Raising awareness and funds is therefore essential.

Rare Disease Day is very close to our hearts at patientprimary.  Why?  Because patients are our focus.  This year's theme for the day was ‘Bridging Health & Social Carewhich essentially defines what we do.  We are a patient support service, bridging the gap between clinical trials and patients with a personal and caring touch.  We understand the challenges patients experience, especially those with a rare disease.  Meeting patients and their families at Rare Disease Day events gives us the perfect opportunity to learn more about how we can even better tailor our services to the needs of patients.  

The patientprimary team attended events across the world for this year’s Rare Disease Day.  Jean Hood, Project Director of Patient Services, visited Royal Holloway University, London. Jean shares her experience:

‘The aim of Rare Disease Day at Royal Holloway this year was to draw attention to rare diseases and the millions of people who are affected by them, highlighting the need for more research and funding to help patients and their families.

The day consisted of some short presentations, hands-on activities and an exhibition zone, managed by volunteers actively involved in supporting a specific disease and rare disease sufferers.

Professor Paul Layzell, Principal of Royal Holloway University and Professor Rafael Yáñez, from the Advanced Gene & Cell Therapy Lab, School of Biological Sciences both spoke passionately about the importance of Rare Disease Day and Dr Jayne Spink,Chief Executive of the Genetic Alliance UK and Chair of Rare Disease UK, herself the mother of a child living with a rare disease inspired the audience to consider the concept of Illuminating the Rare Reality.’

Patient Services Manager, Angela Sweeney attended an event held at Johnston Medical Mall in Smithfield, North Carolina.  The event was co sponsored by her son’s school and Grifols Plasma Centre. Free to the public and presented by Archer Lodge Middle School, it was a wonderful opportunity to learn about over 30 rare diseases that affect hundreds of thousands of Americans.  Angela recounted:

‘The 7th grade students from ALMS promoted awareness and advocacy of many rare diseases.  There were many individuals there that had rare diseases themselves or were the caregivers of family members.  I had the chance to speak with each of the students at their displays and learn about some of the rare diseases that exist globally.  Each adult that was there, either with a disease or supporting it in some way, was very open when speaking about it and many of these people were taking part in clinical trials.’

Displays at Archer Lodge Middle School

Director of Patient Services, Sandra Webb, attended the 6th annual conference hosted by Findacure, held at the Royal College of Nursing in London. Findacure, a UK charity with the motto ‘7000 rare diseases, 1 common goal’, boosts the rare disease community by working with patient support groups, giving the members confidence in their own voice.  By bringing together patients and families, nurses, doctors and clinicians, the ‘rare community becomes an unstoppable force’.   

Rare diseases are individually rare but having a rare disease is actually common.’  - Findacure, UK.

The conference focussed on Drug Repurposing for Rare Disease.  Sandra attended a talk with Rachel Bloom Stevenson and Becky Jenner, CEOs of Reverse Rett and Rett UK respectively. Both Rachel and Becky have daughters diagnosed with Rett, a syndrome rarely seen in males.  Their daughters both participated in the UK’s first drug trial for the condition.

Sandra reports:

The agenda conference improved my understanding of drug repurposing and the challenges involved in getting these drugs into clinical trials. We heard from Reverse Rett and Rett UK on how a drug repurposing trial is initiated, and the positive impact it has had on their daughters.  One presentation from a patient living with a rare disease was incredibly insightful and honest. She shared her experience of treatment as well as her emotional experience. I met some truly inspiring people living with rare diseases or caring for their loved ones and heard about the challenges they face and how hard they have to work to educate the rest of us.’  

Sandra at the Royal College of Nursing

Giving patients a voice is something we feel very strongly about at patientprimary. Fundraising and awareness events like those attended by the team for Rare Disease Day  enable us to meet patients and learn more about their challenges.  In June 2018, Dr Valeria Nicoli, Patient Services Global Director,, attended The Parent Project Muscular Dystrophy (PPMD) 24th Annual Conference in Scottsdale, Arizona.   Duchenne Muscular Dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. The disease primarily affects boys, but in rare cases it can affect girls.   A variety of topics were covered during the conference including managing care at different stages of DMD, understanding disease mutations, ongoing and upcoming clinical trials and family/social matters.

Valeria was keen to hear about practical ways that clinical trials could be made easier for patients and their families:  

‘The event was educational and interactive.  I found it tremendously inspirational talking to the young patients and families affected by the rare disease.  By talking with patients and their families we can gain a good insight into what it is like to be a patient affected by a rare disease and how being part of a trial can impact your daily life including planning your holidays.’

There are multiple stakeholders involved and it is difficult to keep track of all the communication between different parties from hospital, organising travel arrangements and using different booking systems etc. An app where you can find all the information related to the trail would have been very useful.’ - father of a young patient living with DMD.

patientprimary at the PPMD 24th Annual Conference

The patientprimary in house app gives patients control over their clinical trial experience.  With just the touch of a button they are able to book accommodation and travel, arrange home nursing visits, receive reminders about visits and get reimbursement claims processed.  

Meeting patients through events helps us continuously improve our services for patients taking part in clinical trials. We would like to thank everyone who has taken the time to share their experiences through Rare Disease Day; together we are stronger and together we can make a difference.