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Show Your Rare

The last day of February every year is recognised as Rare Disease Day. It’s a day to raise awareness of rare diseases and acknowledge the impact they can have on those living with them and their families. This year marks a decade since the first Rare Disease Day was launched and will see thousands of people from across the world come together to advocate for greater patient involvement when it comes to research into rare diseases.

Rare Disease Day was launched on February 29 2008 as “A rare day for very special people,” and has grown from being recognised in just 18 countries to now hosting events in over 100 countries worldwide. EURODIS, the European Organisation for Rare Diseases, organises the international campaign, whilst National alliances and other patient organisations host events locally. There are over 6,000 rare diseases known to be in existence and 80% of these have been identified as having genetic origins. Astonishingly, approximately 5 new rare diseases are described in medical literature every week.

Rare diseases can affect everyone, they’re not fussy about who they pick on. Over 3.5million people in the UK are affected by a rare disease, which equates to 1 in every 17 UK nationals. Somewhere between 50% and 75% of rare diseases will affect children and scarily, 30% of rare disease patients will die before they reach their 5th birthday. The symptoms of a rare disease are frequently multiple and varied and not only are they not exclusive to that illness, but neither are they all experienced by all patients, which makes diagnosis a long and drawn out process. All too often the diseases are misdiagnosed and beneficial treatment can be unavoidably delayed. A lack of scientific knowledge and consensus throughout the medical community can add to the complexity of reaching a diagnosis and adds significantly to the burdens placed on the patient and their family.

Imagine being told that your child has a chronic illness that neither you, nor most of the medical professionals you’ll end up meeting from that point on, can pronounce – or have even heard of until that moment. Imagine finding out that that illness is rare: that around 1 in 10,000 people are diagnosed with the most common form, but that your child has one of the rarest forms and that there is little research into it. Imagine learning that even the medical community struggles to reach a consensus about this rare disease and whether it really exists or is simply part of a much bigger picture – and having to live with the reality of this rare disease and its effects on your family’s life on a daily basis.

And then imagine finding out, less than 5 years after the time when that initial diagnosis was finally made, that another rare disease has landed on your table and you need to find out as much as you can about it to make sure your growing child is receiving the very best care possible. That happened to us about 6 months ago, when we started to explore whether M could also be living with Mast Cell Activation Syndrome, or MCAS. It seems highly likely that he is as this is a condition that closely resembles EGID with its symptoms and is a problem with another type of blood cell: the mast cell. Treatment-wise, there is nothing more we can do than we are already doing in terms of his medication and dietary restrictions and so in many ways this is just another label to pop in our pocket and pull out from time to time. All we can do is stay positive, keep encouraging him to live life to its fullest and enjoy every moment we can.