Today is rare disease day

It’s Monday morning like no other for most people. As I look out of my south facing cottage window I see grey clouds circling above the Lammermuir hills, on first glance its a bleak outlook. My telephone rings and anyone that knows me will guess that I am then preoccupied for at least an hour. Back to what I enjoy; I greedily set up my three apple devices with devoted labradors at my feet. As I lift my head to pick up a book I looked out of my ‘favourite view’ window. Was that a glimmer of sunshine trying to get through? As Bob Hope once said about Scotland it’s the only country he ever came to where he experienced 4 seasons not just in one day but in one hour. My yes, it was the clouds had lightened and the sun was beginning to show face. What looked like was going to be a rainy cold blustery day was turning out to be a fine day, perhaps not the best however one with promise and prospects, what more can you ask. Today is Monday 28th February 2022, today is Rare Disease Day.

I like to believe that the future for Rare Disease is parallel to today’s weather. One with good prospects and promise with a ray of sunshine to keep that frown upside down and remind us to smile each and everyday.

Living with a rare disease for most affects not only the person with the disease but those around them, whether they are family, friends or work colleagues. On getting a diagnosis, for many it is a life changing situation. Living with or getting diagnosed can be extremely hard to live with; physically, emotionally and financially. Some only get a very short life span. Others have many years of life and have to learn to manage. One big thing in common is many rare diseases are chronic. It isn’t always easy admitting you find life a struggle. However there are charities, hospital groups, clubs, various volunteer groups, etc and great deal of people affected benefit from support organisations; someone to talk to, somewhere that really understands, respite, etc, etc.

So what is a rare disease? 1 in 17 of us world wide will be affected by a rare disease at some time in our life. Carcinoid Syndrome is one of them. Huntington’s Disease,is a rare disease another is Cystic Fibrosis. The majority of rare diseases are chronic, progressive and genetic not curable. Only manageable to an extent. Living with a rare disease can feel very isolating and scary. Globally between 3.5% and 5.9% of the world population is affected with a rare disease. There are six thousand different diseases affecting 300 million people. In the UK, it is estimated that there are 3.5 million people affected by a rare disease.

Many patients with rare disease’s consult with more than one specialist. Often as many as five. Going to various outpatient clinics can take its toll not only on the patient but on the people around. The care at the hospital in the UK is free yes, however the patient has to get to the hospital for treatment, blood tests, scans, etc. Fuel in transport, or cost of public transport, the cost of eating out, etc etc. Then there is the physical cost to the patient. I was speaking with a consultant the other day and she spoke rather concerned that one of her young patients said she had 52 clinic appointments in the year. Equating to one per week. Yes she has an incurable rare disease, however she is also a student, desperate to pass her exams. The doctor sounded genuinely concerned for her patient; saying she thought this could affect the patient’s wellbeing on top of their condition.

What is Rare Disease Day? This is a world wide event for one day – always the last day in February. Celebrating Rare Disease’s. Promoting awareness. Sharing videos and experiences across the world. The aim of the day is to raise awareness, spread hope and solidarity and bring the worldwide community together. Hoping to improve access to treatment and medical representation for people and those affected with rare diseases.

It is go good to see so many people pull together for such an event globally. When these people are at home feeling isolated or trying to go out and are anxious they need to get their “big person” pants on. Life can be so difficult and cruel. It’s heartening to see so many people affected by rare diseases with glass half full attitudes. Medical staff fully behind them and organisations supporting in what needs done. Let’s hope for the day that we can get some treatment and you never know maybe even a cure for some of the diseases. However, for now let us manage the best we can.