The last day of February is the official Rare Disease Day. Rare Disease Day is an observance which aims to raise awareness for rare diseases and improve access to treatment and medical representation for individuals with rare diseases and their families. Most people won’t know that but there are more than 6.800 rare diseases! The event has now become worldwide with more than 70 countries participating in 2013.
The first Rare Disease Day was held on 29 February 2008 in numerous European nations and in Canada through the Canadian Organization for Rare Disorders, organised by EURORDIS. The date was chosen because February 29 is a “rare day”!
What is a rare disease?
‘Rare diseases are characterised 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.
Around 80% of rare diseases have genetic origins whilst others are the result of infections, allergies or they are degenerative. Usually, there are no immediate cures to most rare diseases which add to the patients’ and their family’s high level of pain and suffering.
The exact cause of many rare diseases remains unknown. Still, for a significant portion, the problem can be traced to mutations (changes) in a single gene. Such diseases are referred to as rare, genetic diseases. Many of these genetic mutations can be passed on from one generation to the next, explaining why certain rare diseases run in families.’ (NORD).
How do people cope with a rare disease?
Dealing with a rare disease is difficult, at times emotionally painful. The situation not only affects the patients but also their families. Sometimes it can feel like an emotional roller coaster that doesn’t ever seem to come to a stop. For the majority of people, their life consists of endless hospital appointments, psychological frustration, a lot of time wasted in misdiagnosis due to lack of scientific knowledge, financial difficulties and feelings of isolation. More than that, they also have to often face prejudice and injustice in many areas of their life.
Our story: Aniridia
My husband wrote 2 years ago:
“…There’s a child playing in the snow. She is wrapped up in so many layers of clothing and furry hats and thick boots that it’s a wonder she can walk, let alone run around in the snow, which reaches well above her ankles. She is constantly stopping to point and giggle every time her soles crunch on a patch of ice, smashing her little feet down to hear more of the sound.
Her name is Sofia, she is two years old, and she gives us the gift of a new smile, and a new wonderful experience like this one, dozens of time a day.
When Sofia was born, we could not see the color of her eyes. As fresh, proud parents, we wanted to see these baby blues everyone talks about. We wanted to talk and compare, guess every day whether she would take the color of her mother, or her father.
The nurses scoffed, reassuring us that it would take days before any colour would come out, that her irises were far too dilated right now. For weeks we kept wondering, and my wife constantly questioned Sofia’s seemingly pitch black eye colour. Our paediatrician did not see anything wrong, and we had many arguments about the subject, in which he ‘abused’ us for simply having new parent jitters.
Finally, my wife just went and booked an appointment with a children’s ophthalmologist in Athens. I have to admit to being less than thrilled to just take a day off work to drive 4 hours to a doctor that everyone said we did not need, but got in the car, and undertook the journey.
The doctor, a pleasant, reassuring woman, turned as white as a sheet when she saw Sofia. She refused to tell us what she thought, until she’d undertaken further tests. We sat and waited for nearly six hours, while other children came and went. The ophthalmologist, you see, was reading up on aniridia, making sure she would not give us an unnecessary scare.
It wasn’t until we’d returned home, and fully documented ourselves on this condition that is so rare that spell checkers don’t even recognise it, that the world came crashing down around our ears. There is a wealth of information on aniridia, but very little absolute, concrete data out there, and researching this strange, rare mutation threw us down a rabbit hole that only a few people could ever properly fully appreciate.
We have not had to face any of the terrible boogeymen that rear their heads in WAGS cases, so far. Sofia has a blessedly light mutation, so rare even within the realms of aniridia, and the mutation seems to have manifested itself exclusively in the lack of irises.
Living with Sofia taught us that not all experiences of parenthood are pleasant. Every parent gets to learn that particular fact, but perhaps parents of children with aniridia get to learn it a little faster, and a lot harder than others.
Hearing her cry herself hoarse at the first pressure measurement was definitely not an experience we’d care to go through again, as we stood helpless while strangers in white coats handled her like the rare specimen that she was. The memory of watching her close her eyes and fall asleep in the sun, unable to look at the world in full Mediterranean daylight still tears at our hearts. There definitely have been some of those experiences.
On the other hand, my own parents had to deal with plenty of worries and concerns, and once we got over the shock of what might one day be, we realised that it’s the unpleasant experiences that make or break a family, and pull it together against everything life has to throw your way.
There were exceptional experiences, such as finding out about this endless network of support through shared experience, these wonderful people from all walks of life we would never have otherwise met.
Having aniridia does not make Sofia a different or more difficult child. It may mean we’ve gone through a little more heartache, but all parents come to deal with traumatic experiences for their children. We just had our share a little earlier, as many of you will know.
At the end of the day, nothing can beat the absolute, heart-lifting joy of hearing those little boots crunching in the snow, imagining the big smile behind the pacifier which by now is more of a fashion statement than a physiological necessity, and watching that bundle of clothes and happiness bounce around the white landscape.
Sofia is a solar child of delicate and gentle nature. In the two years I have had the privilege of watching her grow, she has never had a single malicious thought. Her laughter makes everyone around her, strangers and family alike, stop and marvel that such sounds really do exist.
She cuddles us when we’re tired, and has a hunger for learning new experiences and games that is staggering to our old, middle-aged minds. Every single day in her presence justifies all hardships and difficulties, and neither my wife that Sofia resembles so much, nor myself, would change a single thing in our past, because at the end of it all, we have Sofia.
Sure, she’ll fall and she’ll get hurt. She will slip on the snow, and skin her hands. She’ll cry and learn about life through those experiences, just as we did. In the same way, we wonder every day at the bounty of new experiences that this beautiful child brought in our lives, and a different life, with a different baby is simply unimaginable.
She’s a big sister now. She places herself between her baby sister and us interfering parents, and feeds, educates and entertains the newcomer to the family. She brought her snow yesterday, and I have no doubt she will bless Emilia’s life just as she blessed ours.”
‘Aniridia is a genetic condition that affects people at birth. The term “aniridia” literally means “without iris” (the coloured part of the eye), which is generally the first indication that an individual has aniridia.The lack of the iris is the least of the ocular problems associated with aniridia.
Aniridia can affect the entire anatomy – the cornea, the fovea or retina, as well as the lens. As a result, ocular conditions can include glaucoma, foveal hypoplasia, nystagmus, strabismus, dry eye, corneal degeneration, and cataracts.
Most people with aniridia have at least one of these associated ocular conditions that impact their vision.Aniridia is a rare eye condition, affecting approximately 1 in 60,000 births.’ (Vision for Tomorrow).
At first, it was hard and support was not available right away. The purpose of raising awareness about rare diseases is this exactly – for sufferers and their families to have a place where they can find useful information and advice and get the support they needed. For doctors to gain knowledge and training on many rare diseases worldwide and funds to be raised towards much-needed research.
Our own experience is one consisting of a lot of travelling around the world looking for a specialist who had real experience on patients with Aniridia, a lot of our own research when we needed answers to our many questions, a lot of anxiety and agony throughout endless and most times, pointless eye exams.
We are now been seen by a very skilled eye doctor, in another country, only because we ourselves located him. Our medical insurance was completely unable to give us any kind of help on the matter. We got most of our help through the amazing network of our new found Aniridia family.
‘Researchers have made considerable progress in recent years in figuring out ways to diagnose, treat and even prevent a variety of rare diseases. Still, much more remains to be done because there are no treatments for the vast majority of rare diseases.’
There are many useful links concerning information and support on rare diseases and how more people can get involved in all these new projects.