It’s all about the Genes! I’m about to become a Guinea Pig!

I received a long awaited phone call last week from a Qld Hospital Research Department, inviting me to take part in a research project that is aiming to discover what genes or new mutations of a known gene I have, that may be the cause of my disease. This was something my Endocrinologist had put me forward for last year when my leg broke, in the hope that we may be able to get some answers and hopefully a treatment solution for my rare bone disease.

My enthusiasm and quick response of “Yes” was welcomed by the research co-ordinator but as with everything there is a process to go through. Firstly, I needed to receive all the information in the mail and sign a consent form ( have done that already…I really am excited about this!) Once they receive my signed consent I will then receive a phone call from a Genetic Counsellor which I think will be a very interesting conversation. The reason for the Genetic counselling is that the genetic testing is called “Next generation sequencing for genetic conditions” and this could not only uncover the disease we are hoping to find but also other genetic conditions, that I may develop later or perhaps already have that hasn’t been considered as being the cause of my overall idiopathic disease.

I find all of this really fascinating and I’m not sure if that makes me very strange or if it is just one of my coping mechanisms.  I can happily stand outside of my own situation and just look at the scientific/medical side of things which just makes me stand in awe of how complex and wonderful our bodies are. Granted, they don’t always behave as they should and that can be devastating but despite that, it is intriguing and we are still all marvellously made!

Health Insurance….the joy of being on hold!

I have to go to the dentist next week and while my Dentist is lovely I really hate having to go. I’m not sure which is worse,  the invasion in my mouth or whether the fact she always finds something catastrophically wrong with my teeth (thanks to the idiopathic nature of my disease) or the scary bill at the end of it!!

So that leads me to todays post about calling my Health Insurance. I used to manage a national Contact Centre and my focus was always on ensuring that my teams provided the best customer experience possible. So when I call a contact centre I immediately go into “business mode” and analyse the customer experience. I get really excited when a contact centre consultant exceeds my expectations ( and remember my expectations are high so if they exceed them, it is Gold Stars all round as far as I’m concerned )

Today was not a good day. I rang my Health Insurance and after pushing 1 a couple of times, I was really pleased to be given an option of a call back because there was a 10minute wait. Fantastic…so happy to do that! I entered my phone number for the call-back and recorded my name as requested and hung up. That gave me 10 mins of peace with no “on hold” music and messages and I could happily work away at some admin tasks while waiting for my call back. I was a happy customer 🙂 Continue reading

My Story

In 2010 I was in my mid 40’s, at the height of my career as an Executive Manager in a major bank.

In April of that year I was getting ready to take 6 weeks long service leave to spend some quality time with my beautiful husband. We were going on a road trip through South East Queensland down to the Hunter Valley in Northern NSW and I was so looking forward to having a break.

On the way home I started feeling really unwell and I just couldn’t shake off an extreme tiredness, joint pain like I had never experienced and abdominal pain. My hands were so sore that even the slightest touch was excruciating. I couldn’t hold my husband’s hand or pick anything up. My hips were so painful that walking normally was becoming difficult unless my husband supported me. We knew something was not right.

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A Long Road Ahead

As soon as we got home we headed for my GP and a whole list of Specialist appointments followed. Long story short, 2 months later I was diagnosed with Rheumatoid Arthritis (RA) after being first diagnosed with Q fever, Ross River Virus and a list of other false positive diagnoses.

My body was not behaving normally and my Doctors and I were to discover over the next 6 years just how abnormal it actually was. I had no idea what lay ahead.

With RA medication on board, I continued to work for another 12 months before my body began to basically break down bit by bit. My last day in the office was Melbourne Cup Day 2011. I was trying to push through the day and getting ready to judge my Departments “Fashion on the Fields” when my Personal Assistant found me in agony in the ladies bathroom and rang my husband to come and pick me up.

From that day my life was never to be the same again.

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In 2011, I was diagnosed with a prolapsed bowel which refused to mend despite 3 attempts at conservative surgery. By mid-2013 we knew we had no choice but to accept that I needed a permanent stoma.

In November 2013 I medically retired and became the “proud” owner of a permanent colostomy. It has been quite a journey with my medical team including a Clinical Immunologist, Colorectal Surgeon, Endocrinologist, Orthopaedic Surgeon, Gynaecologist, Ear Nose and Throat Specialist, Infectious Disease Specialist, Neurologist and Dermatologist, all trying to work out what is causing my health issues.

I have been called “special”, “unique”, “one of a kind” but really they all believe overall, aside from Rheumatoid Arthritis, I have a rare idiopathic disease (a disease of its own kind).

I have lost count of the number of times I have been hospitalised over the past 8 years. I have had 14 surgeries since October 2010, with the prospect of more ahead.

I thought Rheumatoid Arthritis and a permanent colostomy would be an end to what my body was going to challenge me with. I hoped I could settle comfortably into medical retirement with my husband but I soon came to realise that my life was going to be an ongoing medical adventure.

An Unexpected Surprise

In October 2014 my left femur (thigh bone) broke spontaneously. Yes, all on its own, I didn’t fall from a great height or have a major car crash, which is apparently the type of accident I should have been involved in to have the strongest bone in my body break. Mine just broke as I was opening my bedroom door!

It is called a pathological break and my Specialists believe I have a rare genetic bone disease. My bones are extremely dense and marble like and my bone turnover is almost non-existent. We also now know that my bones are dying and much of the soft tissue around my bones is also dead tissue.

12 months after my leg broke, my right femur was also showing signs of disease on MRI with bone marrow involvement so a rod had to be placed in that to prevent an imminent break and repeat medical emergency like we had with my femur break in 2014.

I am constantly dealing with multiple foot fractures and none of my broken bones in my legs or feet will heal. My bone pain is excruciating on a daily basis. My left femur which snapped in two is still broken nearly 4 years later and has been diagnosed as a non-union break. I have been on two crutches since the femur broke and also have a mobility scooter.

The Break

My Left Femur Break – 6th October 2014

Finding Ways to Live with the Unknown

I have a long and unknown journey ahead and surgery after surgery keeps me in a constant recovery state. My bone disease is also attacking my spine and causing severe stenosis and nerve compression.

I still remain hopeful that we will eventually arrive at a more settled way of life even if my prognosis is unknown.

I have been approved for the highest level Home Care Package which includes life long approval for Permanent Residential Care whenever I need it. I am so grateful for this provision and the peace of mind it brings.

In 2015, I decided to start blogging to reach out to others who have found themselves suddenly physically disabled and medically retired from a normal way of life.

Despite my health issues I still choose to have a happy fulfilled life, different yes, but fulfilled all the same. Three year ago I would have thought a stoma was the end of the world. Today I am so relieved to have a functioning bowel.

Five years ago I was facing the fact that Rheumatoid Arthritis was causing radical changes to my life, the biggest being saying goodbye to my Executive Management career and the team I led and loved. My company were so fantastic to me throughout the whole medical retirement process which was such a blessing and I remain forever grateful for their support.

Today I am medically retired and on a permanent disability pension and my husband is my full time carer. My original plan was a healthy retirement full of travel and volunteering and fulfilling a lifelong goal of writing a book. I may not be able to have such an energetic retirement and my leg break and subsequent bone disease diagnosis has brought the travel idea to an end for the moment but I am blessed that I can still write.

I’ll have difficult days like we all do and days when plans and dreams are restricted by health but one thing I know is that if I can focus on counting my blessings on those days, the clouds pass much more quickly.

My biggest blessing is my amazing husband who has walked this journey with me and stands side by side with me today. We have laughed and we have cried over the past six years as each health episode has thrown up new challenges.

We have even managed to laugh at the unpredictability of my health. We can laugh though because we know life can be and is good, even if it is learning to live at a different pace and in a very different way from what is considered “normal”.

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Chronically Content

Despite all that my body has thrown at me, I still have an overarching feeling of being “Chronically Content”

So, how on earth can I feel content, even happy, in the midst of all this?

What’s my secret?

The simple answer is I love my life. My health is just one part of it and my chronic diseases have actually brought chronic contentment in multiple areas of my life.

Let me share some of them with you:

  1.  I spend quality time chatting and laughing with my husband every day,
  2.  I spend quality time writing, something I love to do. I have a blog called “My Medical Musings” and I write articles for “The Mighty”
  3.  I spend the majority of my day reaching out to others through my online Facebook forum, Medical Musings with Friends. Connection with people is so important for my overall well-being and Medical Musings with Friends forum gives as much to me as I give to its beautiful members,
  4.  I get excited about any achievement in my life no matter how small. Making the bed each day and making it look pretty brings me joy….even if I mess it up an hour later as I have to collapse onto it in sheer exhaustion. I still did it and that counts for a lot in my book.
  5.  I don’t dwell on what I can’t do, I dwell on what I can do
  6.  I have a strong faith in God. I see His hand on my life in so many remarkable ways…the main one being that I’m “Chronically Content” despite my crazy health. My faith brings me a sense of peace in my darkest hour that really does pass all understanding!

Whatever your chronic disease or grief circumstances, don’t let your happiness be defined by what has been taken away from you. Think upon the things that make you smile. Grab hold of those happy thoughts and ponder upon them until ideas form that you can realistically put into action.

You may love travel but health prevents it. Get travel DVDs or look at travel books or brochures and dream you’re there. It saves the effort of packing and unpacking so there’s an immediate bonus from my perspective.

You may love to eat out but find cafes difficult to access. Take a drive in the car and park in a beautiful spot to have a picnic with your loved one or friend. I’ve done this with my husband many times and it’s been just a perfect date.

Above all try not to worry about things that may never happen. Life is too short to go there and when chronically ill, finding ways to be chronically content is a much better way to use your energy.

I hope and pray that my story encourages others who are facing an uncertain future and change in life’s direction.

I hope it helps you to find the courage to not give up, but over time learn to accept a new way of life and be brave enough to share your own experiences.

I would love to hear others stories as they are all so precious and we can learn so much from each other so feel free to drop me a line anytime. 💗

Take care, Sam xx

“Don’t let your happiness depend on something you may lose”  CS Lewis

 

If you’re looking for genuine support, care, understanding and friendship, you are so welcome to join my closed Facebook support forum, Medical Musings with Friends . It’s a safe place to connect with others living with chronic and complex diseases, who truly understand the daily challenges. A warm welcome awaits.

I’m a regular Contributor at “The Mighty”. You can check out my published articles at My Author Page

I also write @ Blogs by Christian Women

I’m a member of  the Chronic Illness Bloggers Network and the  Grace Girls Facebook Group

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WEGO Health Award 2018 Nominee