In the wake of Rare Disease Day, the largest ever awareness campaign (now there's a challenge!) it's hoped that the spotlight has been well and truly illuminated on the thousands of different conditions that affect only a small amount of people each.
The problem is of course, that although collectively, rare conditions affect many millions of people, individually, it isn't financially profitable for pharmaceutical companies - who have shareholders - to invest in an expensive search for cures that will only bring in relatively small amounts of revenue.
So it is often down to the patient groups themselves to bring the conditions to public awareness, along with advocacy blogs like ours and non-profits such as EURORDIS and Rare Disease UK.
You may wonder what rare diseases have to do with SEN, but of course, it has a lot to do with it as many children born with rare or undiagnosed conditions have problems with their education, whether because of a learning difficulty or simply because of missing chunks of education through illness and this is why it is important to raise awareness.
One such condition is Alström Syndrome, a rare complex genetic disorder that is associated with a wide variety of symptoms affecting multiple organ systems of the body.
Iram Shah of Alström Syndrome UK has kindly written for us about having a child affected by the condition.
*****
RidaI noticed as our newborn, our daughter Rida had wobbly eyes (nystagmus) and disliked having her cot near the sunlight as she had a light sensitivity. Despite being breastfed, she was piling on weight.
We were referred to a Geneticist at the Children’s Hospital in Birmingham, where after genetic testing, we received the diagnosis of Alström. We were devastated to hear the news but at the same time relieved, as we now knew what we were dealing with and could concentrate on Rida.
Alström Syndrome is an extremely rare and progressive genetic disorder which can go on to cause visual and hearing impairments, diabetes, obesity, heart failure and other associated problems.
Rida is registered blind and has hearing problems. Although she is is mobile, she does need her wheelchair on occasions. The condition is difficult to diagnose but once it had been identified, we were able to access specialist, multi-disciplinary clinics in Birmingham Children’s Hospital.
It has been a lifeline for us and many parents like us. The charity, Alström Syndrome UK offer support to anyone affected by this condition.
Despite her difficulties, as any parent, I am blessed to have Rida in my life and am thankful to Alström Syndrome UK and the team at Birmingham Children’s Hospital who continue to help and support her in the many challenges she has to face on a daily basis.
For further information please go to www.alstrom.org.uk or alternatively contact Kerry Leeson Beevers, who is the National Development Manager on 07716135940.
* There is also a RareConnect forum for Alström Syndrome, where patients can connect with others across the world
Tania is an experienced broadcast and print journalist & author. She also runs a PR, web & social media consultancy, SocialOro Media.
Tania is a rare disease & chronic pain patient advocate with Ehlers Danlos syndrome.
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