UCLA News on Gaucher & Parkinson’s

Did you ever have a day full of a series of unfortunate events making you wonder if you got out of the wrong side of bed in the morning? One positive thought in the morning, can literally change your day. If you think positive, positive things will happen. It’s the same as smiling at someone, they will inevitably smile back at you. Unfortunately yawning, is just as contagious, but nowhere near as attractive as a smile!

People often ask me how I can remain positive and continue to smile despite living with Gaucher and Parkinson’s disease. Having these two diseases is rare, and there are not too many people in the world who have Gaucher and Parkinson’s. After hearing statistics from several different sources, the actual number appears not to be clear, but it’s somewhere between 50 and 100 people. That’s a VERY small number of patients.

A connection between the two diseases was made some years ago, and research and studies have been going on ever since. Scientists at The University of California Los Angeles (UCLA) recently developed a drug for Gaucher, but instead showed promising results for treatment of Parkinson’s disease. Still in early stages of clinical trials, they have hopes this treatment will have the potential to stop Parkinson’s disease from progressing. 

Thought and planning when building a house or even a public toilet for the disabled is my topic this week in The Huffinton Post.

Well Meaning Advice

If I had a penny for every time someone has given me advice, by now I would be a very wealthy woman! Often advice comes from people with no medical training or personal experience with the disease you are suffering from. Although well-meant and with the best intentions at heart, advice like this drives me crazy. I’m sure I’m not alone, and many people suffering chronic ill health have to put up with receiving a gamut of advice, some of which is totally inappropriate and occasionally just downright dangerous.

Knowing when to filter out such advice is easy: if they don’t suffer themselves or are a caregiver of someone with the same disease as yourself, a qualified doctor or recognized support group / organization specializing in your particular illness – let their advice go in one ear and out the other. On occasion, to satisfy the person’s intentions of their goodhearted advice, I check out thoroughly, researching with the help of the Internet and sometimes conferring with a specialist in Gaucher or Parkinson’s. Some of the advice or suggestions that have been made to me over the years have been amazing (and I don’t mean in a good way!)

However I would like to mention that sending a link to a newspaper article that is pertinent to someone’s disease, with information of new discoveries, medical trials or findings, is welcomed and received in a positive light, giving a feeling of hope.

A healthy person cannot imagine what it is like to literally battle each day against the symptoms of chronic disease, and in my case I’m battling two diseases. I sometimes feel a little outnumbered, but like David and Goliath, we all know who wins!

So should you be guilty of giving unverified advice about an illness you know little or nothing about …..please think carefully before you speak!

We are nearing the end of Gaucher Awareness Month, but being aware should be continual and not restricted to merely one month a year. I have written about how traditional medicine and alternative medicine can work side by side and invite you to take a look at my article this week in The Huffington Post.

Awareness

Sometimes it’s difficult for my husband to get a word in edge-ways. I always insist that being a chatterbox is inherited, and therefore can’t help it (well that’s my excuse and I’m sticking to it!) I thought I’d give my husband a chance to have his say today, so I will now hand over the keyboard to my better half:

OK October has arrived, so that means its Gaucher Awareness Month. Personally I became aware of Gaucher many years ago, when Elaine and I were dating and getting serious, she said to me one day “I’ve got Gaucher disease”. At that point I think I became wary, but after listening to Elaine’s explanation, I asked a friend of mine who is a doctor and I decided to read up on what it meant to live with Gaucher and what if any implications it would have on our future relationship. Well the more I found out the more I realized there was nothing so scary being “wary” and informed became “being aware”.

Becoming aware of a new subject is simply learning about something that previously was unknown. So let’s do everything we can during October to educate people so they understand what Gaucher disease is and how it manifests itself in different people. Gaucher disease is not something to be afraid of; the more aware people are, the more questions and research will be done to help sufferers. Thanks, let’s spread the word……

Did Napoleon say: “Not tonight Josephine”, or was it a Gaucher or Parkinson’s patient? Take a look at my article in The Huffington Post if you're not sure!

Diagnosis of Gaucher Disease

Here is a poem I wrote one night, when unable to sleep. I thought it rather appropriate since October is Gaucher Awareness Month. The poem is entitled "Diagnosis" relating to Gaucher disease:

Diagnosis

Diagnosing a rare disease, is difficult a task,

Relieved to rule out cancer, you continue to ask.

Why are platelets low and haemoglobin out of whack?

Still awful diseases in one's mind lurk at the back.

A doctor cannot know every single rare disease,

Hence correct diagnosis doesn't come with ease,

If no family medical history exists to help give a clue,

Appearing you're the first with something entirely new.

It can take a long process, which is highly frustrating,

But once on the right path the doctor begins debating.

Gaucher a rare disease, passed on from mother and father,

Often affecting siblings, a sister or a brother.

Many years ago, a sternum puncture, was the only way,

Of determining Gaucher, but this is not the case today,

Now it’s a simple blood test, no pain or fear,

Will give a diagnosis that's absolutely clear.

Technology and medicine have improved by far,

With greater awareness, we intend to lift the bar.

October is Gaucher Awareness month internationally,

Together we campaign, as a worldwide family.

To bring better understanding of Gaucher, a disease that’s rare,

Help me spread the word, and show how much you care.

Written by Elaine Benton 2014©

Gaucher Awareness Month 2014

October is Gaucher Awareness month and support groups are holding events and creating awareness in many novel and different ways around the world. Educating the general public about rare diseases is never an easy task.

Gaucher disease is just one in approximately 7,000 diseases considered to be rare. There are roughly 350 million people effected worldwide from rare diseases, which is more than Aids and Cancer patients combined. This means that the rare disease community is far larger than the general public realise. So maybe rare diseases are not so unusual and more common than we think!

It is far from easy reaching a correct diagnosis when a rare disease is concerned. The patient and family not only suffer great frustration through this long process, but there is also the economic impact on health funds and personal financial hardships that incorrect diagnosis, along with years of tests and seeing different specialists entail. Often children and adults can suffer ridicule, as if they are hypochondriacs seeking attention, when test after test rules out the common and most likely causes. Only when finally someone is diagnosed with a rare disease, as if solving the last piece of a puzzle, one can see the full picture. Great relief is found by patient, family and treating doctor, now understanding the symptoms and suffering, there is a feeling of being at long last, understood and acknowledged. Arriving at this point, for some, sadly can take years.

How times have changed since I was diagnosed with Gaucher in 1968 at the age of 5 years old. I was fortunate to be diagnosed quickly only due to having older siblings who were diagnosed first. Gaucher, being a genetic disease, once my brothers were diagnosed, it was fairly obvious in my case, what to test for. Back then there was so little information, no treatment available and patients suffered greatly in the hands of doctors who simply didn’t know about this rare disease. Today thankfully, things are very different, and I’m often pleasantly surprised to hear a doctor I’ve not met before tell me he/she knows about Gaucher. 

Rare, medium or well done? As it's October, I would have to say RARE! Take a look at my article in The Huffington Post.