International Gaucher Day

The European Gaucher Alliance will be celebrating  International  Gaucher Day on Saturday 26th July 2014, which would have been Dr. Philippe Gaucher's 160th birthday. This day has been organised to raise awareness of Gaucher disease and they have chosen a very appropriate slogan: "Rare but not alone"!

Living with a rare disease can often mean isolation, since finding fellow patients is not that easy. Therefore upon meeting someone with the same rare disease, a friendship is immediately born as if finding a long lost cousin, and seeing that Gaucher disease is in fact a genetic disorder, who knows, maybe we are related in some distant way.

Talking with someone who has been through the same ordeals and suffers the same symptoms is comforting, and being in a room with other Gaucher patients, for me is quite emotional and extremely supportive. I was without any form of support or having met another Gaucher patient for the first 28 years of my life - that's a long time!

I am not a doctor, merely a patient sharing my experience, and trying to educate and create greater awareness. I have Gaucher Type 1 disease, which is the most common form of Gaucher, but you may not be aware there are actually three types of Gaucher. Type 2 and Type 3, due to small numbers, sadly are often not talked about, and little is known by the general public or even those patients with Type 1 Gaucher. Therefore my article in The Huffington Post this week is dedicated to bring attention to Type 2 and 3 Gaucher disease.

Parkinson Pains

When I have mentioned Parkinson pains to people and even some doctors, I've been met with the comment that Parkinson's doesn't hurt. I think it would be fair to say that most patients suffering Parkinson's would disagree, and that an amount of pain is down to the disease itself. Pain can even be one of the early symptoms or may show up later as the disease progresses, often appearing on the side of your body that is effected the most.

Pains in muscles can be anything from an aching to a burning sensation. Skeletal sharp pains may be caused from a nerve or nerve root, that pulse or radiate which is often a result of dyskinesia. Those uncomfortable continual jerky movements, will eventually have an effect on joints, the strain of which results in pain.

Pain killers may be prescribed, but alternative methods which may help include: massage, therapeutic ultrasound, strengthening exercises, and in some cases, acupuncture. Yoga and Tai Chi also can prove beneficial which helps alleviate muscle stiffness and rigidity, and breathing exercises which also help relaxation improving one's  posture. Regular exercise is fundamental in maintaining mobility, and if attending a class especially for Parkinson's patients, the added social benefits are immeasurable.

I'm a frequent visitor to the hospital and as absurd as it may sound, I think of it as my "second home". I guess this may seem kind of sad, but looking on the positive side, it may give you an idea of how well I am taken care of by the dedicated and highly trained professional staff. I've written this week for The Huffington Post about an incident that happened to me in hospital some years ago, so if you'd like to read something light take a look at "No Sense Of Direction".

Peaches & Cream

There are certain things that go so well together, it's as if they were made for each other, like peaches and cream, baked beans on toast, roast lamb with mint sauce, and peas and carrots. I could go on for the list is endless, but I think you get the idea. Certain things put together create a delightful partnership and a memorable flavour, sometimes reminding one of fuzzy warm childhood memories or being somewhere special. The same however, cannot be said about Gaucher and Parkinson's. A more unfitting duo and unpleasant combination would be hard to find. The two diseases exacerbate each other, like two toddlers arguing over the same toy, my body is playing a "tug of war" as the symptoms battle against one another each day.

Do you remember as a child playing at a friend's house, suddenly the interest and enjoyment would wane, and the familiar phrase "I don’t want to play any more" strongly indicating to the adults present, it was time to go home? What a shame this principle doesn't apply to Parkinson's, for no matter how I protest, it just won't get the hint and leave. Having lived with Parkinson's for over 7 years, I've had enough and don't want to play any more!

I had an uncle who when he felt guests had overstayed their welcome, had no qualms in making it plainly clear to all, it was time to leave. He'd stand up with an air of authority say: "Don't let the door hit you on the way out!" a more subtle suggestion I can't think of, even if rather rude, it had the desired effect. The same cannot be said about Parkinson's. I would take great delight, demanding Parkinson's immediate departure, and allow the door to slam in its face as it disappears. No doubt millions of others who suffer the indignities of this disease, would also rejoice in waving Parkinson's a final farewell.

So meanwhile around the globe we all wait, keeping ourselves busy, doing what we can to maintain mobility and stay as well as possible, many advocating, participating in support groups and events bringing us together in our joint cause, scouring the Internet for news, raising awareness and funds for research and development; waiting and hoping for the day a new medication is found to stop Parkinson's in its tracks. Better still, a cure, that once and for all will send Parkinson's on it's way, with a one way ticket to nowhere. Now is not the time to give up but to forge ahead, with strength of conviction and resolved determination, pulling resources together we'll triumph! Then life would be peaches and cream!

My article this week in The Huffington Post is entitled "What makes my blood boil". No one is perfect, and sometimes we are pushed to the very edge.

Don't Judge Too Quickly

Looks can be deceiving and first impressions often stick firmly in our mind. I heard a story recently that epitomized how many people unfamiliar with serious illness, have a hard time recognizing and accepting the agony a person may be going through. I'm a good example of how deceiving looks can be, for when I have makeup on, my hair done and I'm dressed well with a smile on my face, you wouldn't in a million years be able to imagine that I'm in severe pain and what I go through on a daily basis.

The story I heard recently was about someone visiting a person who was dying. Upon arriving at the house, when they saw how well the person appeared, they commented on the fact he didn't look that bad and couldn't by dying, so would come back in a few weeks time when he looked much worse!!!! My mouth dropped open as I listened, and as awful as it this story sounds, unfortunately it's not uncommon.

Preconceived ideas of what a chronic patient should look like, or someone who hasn't got long to live are often very wrong. There are no set rules, everyone is individual, each disease has its own peculiarities, and one certainly can't wear a neon sign above one's head saying "I might look good to you, but trust me I'm suffering".  What you see with your own eyes may be an individual who is bravely putting on a smile and hiding the appalling pain to lessen your distress, wanting to be remembered as a cheerful person, not a wretched creature convulsed in pain.

Most of my family and friends have  not seen me when I'm having a really bad day. I wouldn't want them to see and remember me this way, to witness the anguish and suffering first hand. So should you happen to visit someone who is very ill, or got little time left, don't be too quick to judge, for they may be suffering in silence for your benefit. 

Connecting with fellow sufferers, quite a number have experienced some pretty weird side effects from medications. One particular side effect doesn't sound so bad; shopping! Yes that's right I said "shopping", but the problem is that one can become a shopaholic, which can ultimately put great strain on the family's finances. To read more about this issue, which may sound amusing, but should be taken seriously, take a look at my article in The Huffington Post.