Monday, 5 December 2011

Alstrom Syndrome

My cousin, Christopher, was diagnosed with Alström syndrome at 19 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. This figure changes frequently so please don't quote me on it exactly. 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, despite everything, he is a very positive person.

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, last year he 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. When he calls, I could (and do) literally talk to him for hours.

 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 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; a band that he and I like. The lead singer of Halestorm, Lzzy Hale, and also the bassist and guitarist of Evanescence, Tim McCord and Terry Balsamo, have retweeted the link, causing many more friends to see this blog. Along with so many other supportive friends on twitter helping spread the word. I am so so thankful for those who have helped get this blog seen by as many people as possible.

I want to thank you very much for coming on this blog, most of you will have come on this as a result of my persistant annoying nagging and endless posting on various sites, and I am very sorry for being that weird green haired girl giving out cards in college or spamming your facebook feed, it's just this means so much to me and my family! I appreciate every single view on this blog and every share, every like, every comment is so special and important.

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 4000 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.

I was lucky enough to meet both my aunty and my cousin at an Evanescence concert, and they are both truly amazing. I'm so proud to be apart of their family. Again, thank you so much for coming on to this and reading it, please send it to as many people as you can :)

Message from Chris (My Cousin):
I have had this monsterous disease for 10 years now and although I have had lots of unwanted illness this year, it still doesn't stop me doing any of the things that I like doing. I always say to people there's no such word as can't, what I do is just find away round doing the things that I want to do and it works for me. It's taken me a good 6 years to deal with it and I finally have a good lifestyle.

I really do hope that there will be a cure for this rare monsterous organ destroying illness. I have lost some good friends with Alstrom, but I am still here, fighting, spreading the word about it and making sure that as many people know about it far and worldwide.

Thank you for your support

Other links and clips to do with Alstrom: - BJ's Heart - What about love? Our Story. Rare Disease Alstrom Syndrome. If you are feeling kind and generous enough to donate!