Home Treatment For Gaucher Disease

In contact with a dear friend who courageously endures laborious kidney dialysis three times a week, I was reminded of when I first started the “Enzyme Replacement Therapy” via infusion for Gaucher disease, almost 24 years ago. At the time I had no choice other than to visit the hospital 3 times a week. Spending a lot of time in hospital on a frequent basis, naturally feels as if one’s life has turned into one long hospital visit. This in itself takes extra emotional strain, strength both physical and emotional, not forgetting endless patience! There is nothing more exhausting than a hospital visit as an out-patient, which I’m sure my friend, and in fact anyone relying on constant hospital treatment or medication will attest.

Having a little too much experience in this particular area, I really appreciate the ability of now having home-treatment, where a nurse comes to my house once every two weeks. It is so much easier and improves my quality of life tenfold receiving treatment in the comfort of my own home. Reducing the countless long hours I used to spend in hospital, not to mention all the working days my husband would lose when he would have to take me, is a huge improvement.

Another important factor is having the same caring nurse each time, which has obvious advantages. Over the years she has become a friend and an important part of my life. A qualified nurse, seeing a patient on a regular basis, particularly when dealing with a rare disease, can prove very helpful to one’s healthcare team. A nurse with experience and a watchful eye can fulfil a valuable role between patient and doctor.

Ever wondered why people stop phoning, dropping by for a visit. How ill health affects one's social life prompted my article this week in The Huffington Post: "Was it something I said?"

Which Disease is Worse?

Attending a recent public speaking engagement, a lady wanted to know what question am I most frequently asked? I didn’t have to think very hard, as one particular question immediately sprang to mind: “Which disease disturbs you more?” My answer is: Parkinson’s is undoubtedly more bothersome for it is relentless in demanding my attention 24/7 and never gives up.

A few symptoms overlap, and are the same for both diseases, which are extreme fatigue, pain in limbs, difficulty in walking and serious constipation. These symptoms are difficult to pinpoint the origins, as to whether they are Gaucher or Parkinson’s related, or a combination of both.

However when Gaucher disease decides to take front stage, Parkinson’s has to step back and wait in the wings. Bone problems with Gaucher disease can be of a most painful and serious nature, sometimes requiring hospitalisation and even surgery in extreme cases.

Following Your Intuition

Do you listen to your body? Have you ever had a gut feeling that something is wrong? Can you trust your own judgement?  .

I strongly believe in being a responsible advocate for one’s self, and listening intuitively to one’s body. This is a fine line to tread, and should be taken very carefully. There are many factors involved; genetic disposition, environment, interactions between medications along with various other explanations. Taking all into account and carefully balanced alongside a doctor’s professional and expert advice, should mean you have all bases covered.

Giving a doctor all the facts is extremely important, for like a puzzle, if a piece is missing, it’s not easy to see clearly the entire picture. Working together, patient and doctor, open dialogue and honesty is paramount. Attending doctor’s appointments with your spouse (or someone close who really knows you), can make a huge difference if you are unable to express clearly and concisely to a doctor what you are experiencing, and he/she may have valuable insight from a different perspective.

When first diagnosed with Parkinson’s, I felt a little silly arriving for each appointment at the neurologist with my husband in tow. But now into my eighth year of living with Parkinson’s, I take everything with a pinch of salt, and so my husband accompanies me everywhere. I know if I forget to ask or report something, my husband will speak up. If I overlook anything I’m told during the short allocated time, I have a back-up memory to rely on! Apart from which my husband always keeps me well entertained with his great sense of humour whilst we sit in the waiting area, so why on earth wouldn’t I take him?

Life is no dress rehearsal, it's a live performance. Take a minute to read my latest article in The Huffington Post entitled: Presenting Gaucher and Parkinson's.

Wearing Ribbons

Wearing our Blue Denim Genes Ribbons, (which is the symbol of hope for people fighting rare diseases) last week we marked the 28^th February bringing attention to Rare Disease Awareness Day. Most I talked to in the days leading up, had not heard of this day so it was a great opportunity to bring attention to the plight of those suffering one of the 7,000 (approx.) known rare diseases.

Sharing one’s story may be difficult at first, but the importance of putting a face, name and personal experience to a rare disease has a huge impact. Not only does it create greater awareness, but helps doctors and others in the medical field understand the human aspect. Having a rare disease can make a person feel quite isolated. By sharing one’s story, a patient can inspire others and possibly reach fellow sufferers and receive support in return.

Through my blog and writing non-stop over the last few years, I have had the pleasure of making contact with other fellow Gaucher patients. This contact has added a marvellous dimension to my life, and the feeling of isolation is now a thing of the past. If you would like to read a wonderful compelling story of a young woman, take a look at “Emma’s Story”. You may learn something new, or perhaps be able to relate to her unique story.  

There is a great website with a toolkit for those interested in telling their own story of living with a rare disease. Take a moment to read my latest article in The Huffington Post.