Alstrom Syndrome

Hey,

So, My name is Leah, and truthfully, I'm no one interesting nor important but I have my health and life ahead of me, and my point is, others don't.

My cousin was diagnosed with Alström syndrome at 17 years old. You may not of heard about Alström, because it is a rare genetic disorder, it is among the rarest genetic disorders in the world, as currently it has only 266 reported cases in medical literature and over 700 known cases in 47 countries. More people are getting diagnosed thanks to more knowledge on it. It is possible to clinically detect Alström syndrome in infancy, but more frequently, it is detected much later, as doctors tend to detect symptoms as separate problems.


So what are the symptoms?

• Heart failure in over 60% of cases
•  Light sensitivity and vision problems in all cases
• Developmental delays in 50% of cases, learning disabilities in about 30% of cases
• Obesity in all cases
• Loss of hearing
• Type 2 diabetes
• Problems in the liver and the kidneys

However, Alström syndrome varies from each person, the symptoms differ.


Currently there is no cure.


However, Many AS sufferers are now living into their 30's and a few into their 40's. 


My cousin described it as like having a monster inside of him, knowing it would get worse, and yet, he is a very positive person despite everything.


He is inspired by music. Although he's got hearing problems, he attends concerts regularly and also is his own musician writing his own lyrics and playing. He plays drums that he made from clay and wood.  


He also makes pottery and has had one of his works displayed in the Harris Museum, entitled 'Conquering Disabilities'. This piece was exhibited at The Harris Museum & Art Gallery in October, November, December 2009 as part of the Open Exhibition. Later auctioned to raise funds for Alstrom Syndrome International. 

He said, 'I believe that by the year 2020 they will have so many different cases that they maybe able to start finding ways to cure this illness and get rid of what many of people with it would call it the monster inside me cause that is what it feels like in many ways.'


He is my inspiration, we are so proud of him, he's recently passed a test after learning all the local routes to get a guide dog. Every time I hear from him, I get an instant smile on my face, why? Because he's a true inspiration, even with his witty comments over Facebook, you can tell that he won't let much get him down. He is such a kind caring person, and more positive than a lot of people who are healthy, he doesn't take life for granted, so why should we?


No words I say can ever truly describe how much I admire him for the man he has become, nor can they define what an amazing person he is, but all I want you to do is consider how lucky you are, no matter what, and how even in the worst of circumstances, you can be positive and possibly inspire others, like Ghandi said, be the change you want to see in the world, because I'm looking out for a happy future.


I may not be anyone of importance, but he is.

I am on a mission over twitter, a number of people have already retweeted my tweets about alstrom syndrome determined to help raise awareness, 5 authors (Melissa Hill, Michelle O'Boyde, Katie Fforde, Miranda Dickinson and Cat Clarke) have done so too along with Within Temptation, and band that he and I like.


Even a simple thing like posting it on facebook or twitter alone can help more people to become aware so please go on it :) 


I update this blog quite frequently and am amazed at the response this has gotten, thank you to each and everyone of you who's been on this blog, it's reached over 1000 views! One thing I have to say is that a lot of credit goes to my fantastic Aunty, who is another big inspiration in my life, she too is so positive and when I speak to her I feel so much more happy and positive.


Again, thank you so much if you've been on this and read it, please send it to as many people as you can :)