Rare Disease Awareness Day 2015 - Gaucher

I wear two hats, for apart from living with Parkinson’s, I was born with a rare disease called “Gaucher”. I can hardly believe an entire year has gone by and here we are at the end of February, marking “Rare Disease Awareness Day” once more. Bringing attention to rare diseases today, hopefully will improve better understanding of the many complex difficulties, that go hand in hand for patients and their families.

When I was growing up, most had not heard of Gaucher disease, and little was known in 1968 when I was first diagnosed at the age of 5. There was no treatment available back then, no experts in the field, and no support or information. I was too young at the time to realise what my parents must have been going through emotionally. Today as a parent myself, I can only imagine the horror and worry that engulfs any parent in such circumstances. This is most definitely a situation any parent would dread.

We were five children, three of us diagnosed with Gaucher disease. Two were lucky in the DNA “lottery”, born simply carriers of the gene, they would never suffer from Gaucher disease themselves. Thankfully today, families don’t have to endure what my parents did, due to great leaps and bounds that have been made over the years. To diagnose Gaucher disease, today is possible with a simple painless blood test. There are many support groups and doctors who are experts in this field, and information is easily accessible thanks to modern technology and the Internet.  

I have the greatest respect and admiration for those who dedicate their careers to a specific rare disease such as Gaucher, and would like to take this opportunity of thanking them. Their life’s work has made a real and lasting effect on the community, and made a huge difference on a personal level to those like myself and my family.

Please help me by sharing this blog or my latest Huffington Post article to spread the word about “Rare Disease Awareness Day”. THANK YOU!

Mount Laundry

Who hasn’t heard of Mount Everest and the mountaineers that go down in history for their daring climb to its famous summit? Or Mount Rushmore, America’s national memorial, a landmark depicting four heads of the United States presidents, sculptured into a rock face. I could quote many more well-known mountains, but this is not a geography lesson.

What I’d never heard of, is Mount Laundry! My husband taking one look at our overflowing laundry basket, named it rather appropriately “Mount Laundry”. I don’t know if you have a similar scenario in your household? I’m convinced we have a magic laundry basket. No sooner has it been emptied, does it mysteriously refill itself. There appears no end to dirty laundry, even though we are a small family.

With the recent storms and constant rain, day in, day out, Spring feels like it’s a long way off. I want to be outside, sitting in the garden and feeling the warmth of the sun on my skin (no better way of getting a natural dose of vitamin D!). Unable to hang laundry outside in the appalling weather of late, the pile continues to grow, threatening to take over the small room.

Why am I sharing with you this seemingly pointless information? Let’s face it, no one really cares, but the point I am making, albeit rather long winded; coping with ill health is all a matter of how you perceive things. Keeping a positive spin on everything, even something as mundane as laundry, maintaining a sense of humour no matter what, helps give a little light comic relief to what is really far from a funny  situation. Laughter helps lift everyone’s spirits and is more powerful than given credit for. Humour is an important coping mechanism and quite frankly we need all the tools we can muster. 

RGRM - Movement

Ronnie Gardiner, is the creator of the “Ronnie Gardiner Rehabilitation Method” which was founded in 2001. This multi-sensory stimulation is being used in health care and rehabilitation for those living with neurological difficulties, Parkinson’s patients, those who have suffered a stroke, the aged and other brain disorders. 

Wearing distinctive shirts of black, with red on the left side, blue indicating the right side, the music and movement appears to do more than lift the spirits. RGRM is about opening up new pathways to the brain, focusing on rhythm, co-ordination, memory and balance. This method has been found to successfully stimulate harmony between the left and right sides of the brain, by synchronizing the mind, body and soul.

When you can participate in an activity that can improve your situation, with the advantage of not putting more chemicals and medications in your body, it has to be a wise choice and worth a try. 

A true hero doesn't need to stand on a soap box telling everyone how great they are and all the good deeds they've done. I write about the silent heroes who live amongst us in my latest article in The Huffington Post.

Are You Sitting Comfortably?

When going to close friends for dinner, who have a lovely new dining table and chairs, I realized how understanding and in-tune with my needs regarding Parkinson’s they have become. They very kindly kept some of their old dining chairs knowing full well, that if a chair is too high for me, sitting at a dining table can become very uncomfortable, thereby cutting the evening short. So as nice as the new chairs look, I sit on one of the old chairs that is not too high, yet not too low and just right for me. This is beginning to sound like Goldilocks and the three bears, lucky I’m a brunette and there’s no porridge involved with this story, but I digress, back to the subject at hand: “Are you sitting comfortably?”

The height of a chair makes a considerable difference, but especially if living with Parkinson’s.

My husband is a dab hand at carpentry and has made much of our furniture, and so it took him but a minute to put together a small wooden platform (far lower than a stool – just 4 cm high). So now when I’m sitting at our dining table, instead of my feet not quite touching the floor, and the edge of the chair cutting into and pressing on the back of my thigh muscles, this little plinth does the trick. Not only does it enable me sit for longer, enjoying the company of those around the table, but relieves a little of the unpleasant muscle pains in my legs, and I find I'm sitting upright instead of hunched over.

This may sound like a simple idea, a small thing, and maybe you’ve already come up with this idea or something similar. By doing all you can to make your surroundings as comfortable as possible, even if only improving your quality of life by some small degree, it’s better than nothing. And for now, I’m willing to take any improvement I can.

I wrote last week for The Huffington Post an article about the unpleasant and all too common problem of painful curling toes that many Parkinson’s patients suffer from. I received a flood of e-mails and messages from fellow sufferers with various suggestions, so thank you everyone who wrote in. I have found that two things combined have made a difference; the platform to put my feet upon when sitting at the dining table and an exercise that I write more about in this week’s article:  Attention Parkinson’s Toe Curlers!