WE STRUGGLE BUT WE DON'T QUIT - GUEST POST 6

This is the last post in the series " We struggle but we don't quit". 

Today we meet Sarah, a 29 year old nurse from Australia. Her endeavours to find proper care and advice for herself, and her ability to soldier on in the face of adversity, are truly inspirational.

INTRODUCING SARAH
What do you do next when all your fighting and pushing for your health doesn't pay off? 

When I look back at the time of diagnosis all I did was advocate and fight for my health. The doctors had no answers. I had no answers and yet I knew that something was wrong. Something deep inside told me that something wasn't right with me, despite what people said.

It wasn't in my head; it wasn't because I was overweight and it wasn't about what I ate. This persistent drive inside of me told me that I should keep going. There had to be a reason to the way I was feeling.

Answers did finally come (a lot more then I expected) - multiple medical conditions meaning multiple doctors, tests and hospital visits. Cowden's was a diagnosis that I was expecting but never wanted. A high risk cancer gene meant I was at risk of a plethora of cancers, and in particular breast cancer. My mum lost her battle to breast cancer when I was 19. I wanted my journey to be different.

Despite the challenges I wanted to be proactive. I continued to research and be my own advocate. I quickly realised that the now infamous blank stare from doctors would become part of my life and that it would be my job to educate doctors and medical professionals. In a small part it gave me a purpose to my medical conditions and gave me control back over things I never asked for.

One of the most particularly frightening things for me was the prospect of breast cancer. With an 80% lifetime risk and given my family history, the risk was high. It is a difficult subject for me as I saw what my mum went through. When I saw changes in my scans last year, (although they were benign)it was enough for me to start asking about prophylactic mastectomy. To be honest the mere thought was terrifying, but I knew it was my best option to reduce my risk. So I went to my surgeon and got a referral to a plastic surgeon. I knew this would be an uphill battle as my surgeon said I was too young to have the surgery. I pushed ahead with the consult anyway. Even though I knew the chances were slim, it was still a shock to me when the plastic surgeon also said no.

I put all this time and effort into my health to be told no. I freely admit it threw me. I didn't know what to think. Was I wrong? Was he wrong? Why didn't he respect my concerns about my health risks? All I was told was to lose weight and it would make things better. I felt so useless and confused.

The question continued - what do I do next? After some thought I realised what I needed to do. Keep fighting. I did more research on my Cowden's , talked to people who might understand and developed a new plan with my conditions in mind. A new plan, new doctors, new hope. What I realised is that despite setbacks and "no" from certain people, I'm still my greatest advocate and to never give up.

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I would like to thank Michelle, Georgia, Egbertine, Robert, Adrian, Tanya and Sarah for sharing their experiences with everybody. Together we will continue spreading the word and beating Cowden's.

Till next time...xxx
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WE STRUGGLE BUT WE DON'T QUIT - GUEST POST 5

Tanya, me and Roxanne 2014

 This is the fifth instalment in the series " We struggle but we don't quit". In this post I am handing over the reigns to a Mum called Tanya. Tanya does not have Cowden's syndrome but her daughter does. She inherited the condition from her father.

I first met Tanya in an online Cowden's support group soon after I was diagnosed. It somehow helped to find a fellow Aussie in that international group and I was very touched by her words of wisdom and caring manner. Later Tanya, another friend Roxanne and I would start Cowden Syndrome - Australia, the first support group for those with CS in Australia.

Welcome to Tanya's story which begins with HOPE.

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I’m going to write a bit about my experience caring for a child with a rare condition whilst battling my own physical and emotional health challenges.14 years ago I was blessed with a beautiful little girl whom I named Hope because she was my little miracle and my vision for a new and better life. Yes, my life up until this point had been extremely difficult and full of much sadness and pain so when I had my daughter I called her Hope. I never had any idea what the future held for her nor did I know how much her name would end up meaning.

The next 14 years for us were extremely difficult filled with much physical and emotional health challenges as well as many close family traumas. During these years I battled for answers to Hope's various health and physiological anomalies. Then when Hope was 8 years old after a great deal of searching she was diagnosed with PTEN HAMARTOMA TUMOUR syndrome or COWDEN'S SYNDROME (depending on which specialist you talk to).

I won't go into this condition as I’m sure you have read quite a bit about CS on this blog. What I will tell you is how it feels when you receive a diagnosis like this and how you can climb your way back to your new level of normality.

How would I explain rare disease?

Imagine you are taken and suddenly thrown into a foreign country alone. You don't know this country and you don’t speak the language. Everything you have known is gone and your life is altered dramatically .You feel lost, confused, scared,misunderstood, sad, alone and angry that this has happened. You try to talk to people and explain what has happened but no one understands you and you can’t find anyone like you. Even the people in charge 
who should be able to speak your language are unable to help you and really don’t 
understand.

From my perspective this was exactly how I felt when Hope was diagnosed and for many years after. Today I still have days where I feel alone and misunderstood, especially where doctors are concerned, but not to the degree I did in the beginning.

How did we find our way back and how do we cope???

Firstly, I searched for SUPPORT and eventually after much looking met some amazing people who understood what we were going through, helped us stay strong and understood our new life. I worked really hard to STRENGTHEN my health and Hope's. I overhauled our life by changing our diet and exercise. I also searched for ways to deal with the anxiety and depression we both deal with. Some were helpful, some not and yes these things made us very poor but it was all worth it.

We learned to use HUMOUR to deal with some challenging aspects of our lives. One particular way Hope would cope with all of her doctors and specialists was to give them 
nicknames. We have had the Dark Lord (yes Voldemort from Harry Potter) . That nickname 
was definitely well earned! We also have Mr Boring History Lesson guy and many more. Hope even jokes that she will call her first autobiography "101 ways to moon Dr Salmon" (the owner of the Dark Lord nickname). My motto is never to underestimate the power of HUMOUR but just remember at some really sad times, the humour won't be helpful. So know when to use it and when not too.

 EXERCISE is a big one for us both and we have learned that a strong body means a stronger mind and for us it helps many symptoms of anxiety and depression. Hope has come so far in this regard. For a child who walked late and always fell over and had all kinds of coordination and joint and health issues, she is doing much better in this regard due to hard work and persistence. We go to a gym together now and I must say kick some fierce butt in body combat class. We love the empowerment it gives us even on our bad days. In past years we did some fundraisers and runs like the mother’s day classic. These

Mother's Day Classic

weren’t easy physically but we did it and NEVER GAVE UP!! Hope also last year found a huge love for dance and she now does tap, hip-hop and jazz. Does this hurt her body at times? Absolutely it does but the benefits far out weigh the negatives and it makes her feel happy and alive. She has found her passion and the effect of that is very powerful!

Hope's favourite dance quote

One more thing I’ve learned is that it's very important to learn to accept the bad days. Things in our life are certainly not easy and some days it's ok to feel sad or angry or just over it all. The important thing is to be able to get up the next day and keep going and try to move forward. If you have noticed I often refer to things we do as "us" not "I"or Hope. It’s because we are a TEAM. It may be small just being the two of us but we are very powerful if we work together. Our relationship is very important. Yes, we struggle terribly at times, we argue, bicker, yell, get angry and cry. But we are incredibly close, we have a very special relationship forged out of much heartache, persistence and hard work.

How do I see this new world now?

This new world I live in has become my new reality. I have learned to navigate my way around. I am increasing in confidence and I have become a great advocate for my daughter. Whilst I may not accept the suffering my daughter goes through at times, I am learning to cope with it and learning how to help Hope to cope also. The world of special needs and complicated medical needs is extremely tough at times but I’m learning the lingo. I’m understanding the language better and I’m learning where to go for help.

And most of all compared to my first years in this new world, I’m seeing flowers instead of weeds and sun instead of rain. Of course this is not a world I would have chosen. The pain of what we have been through and go through daily is still raw and difficult and seeing your child suffer is something no parent would choose, but I try to see the positive and if I look hard there is much positive to be found, even if some days the positive is the ability to enjoy 
a nice strong cup of coffee

Being forced to become a single parent carer for a child with a rare condition and many other battles has completely changed my life. It forced me to face head the serious depression and anxiety that I’ve battled my whole life, as well as all my past demons. I had to fight hard to get myself well so I could fight even harder to get my child well and help her grow and cope with the problems she faces. I’m damn proud of how far I’ve come and it’s not often that I give myself credit. I’m certainly not perfect, I still struggle and still have bad and really sad days or days I want to hide away. But I don’t. I get up every day and keep fighting.

                                             
People say, you’ve done so well with Hope or Hope is lucky to have you. Well I can honestly say that I am extremely lucky to have Hope. She has taught me so much. I am incredibly proud and humbled that this kind, brave, funny, smart and truly beautiful soul is my daughter. This is the beauty of special needs parenting of any kind. We work as parents and carers to help our kids in every way possible, but in the process they help us. And in my case she saved my life and showed me the true beauty of life, what’s really important and I learned the healing power of unconditional love!!!!

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Not much more I can add except,
Till next time...xxx
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WE STRUGGLE BUT WE DON'T QUIT- GUEST POST 4

My intention in producing this series has been to highlight the coping mechanisms of people with a variety of rare diseases. So far the stories have only been from people who have Cowden's syndrome (CS). This (as you know) is a condition close to my heart. Today following a question I got from one of my readers, I'd like to introduce Robert and Adrian to give a male perspective. Robert is American and Adrian is Australian.

The question I was asked was " does this condition affect males"? Well yes it does. Males and females with CS are affected in equal numbers but the literature indicates that males are more likely to develop conditions like thyroid cancer while females are more likely to develop breast cancer. Otherwise the syndrome appears to affect people of all races and ethnicities just as equally.

Thanks to Robert and Adrian for sharing their stories today xxx

INTRODUCING ROBERT

My name is Robert and I am a 55  year old male married with one son. We live in Detroit, USA.

As humans go we have around 25,000 genes.  I was born with a mutation or quirk in my Pten gene. This mutation predisposes me to have some forms of cancer. This doesn't mean I will get cancer, just that my risk is greater. My condition ( Cowden's syndrome) essentially lies in a grey area. Not much is known about it. 

Robert

 My main calling in life is helping people, mainly I guess because of some of the hospital stays I have had in the past.  A few years after high school I got a few jobs in the health care field. It filled my need to help people. The one job that stood out was the orderly position I had at the local hospital .The downside to taking care of people in the hospital is unfortunately they're sick and eventually I got sick. 

Being new to the job I wanted to get back to the job I enjoyed working at pretty quickly. Well, I came back to the job too fast and ended up in the same hospital I worked at. Well things got worse before they got better.  I went home about 3 weeks later but in that time I had contracted two different viruses.  No one could even start to guess what genetically might be the cause of all this. I eventually ended up with a hole in my throat (tracheostomy) just so I could breathe.

I ended up losing my job as I could not keep up with the work and the ongoing effects of the tracheostomy. I also couldn't deal with a high risk environment where I could catch anything around me.

 How I cope with the syndrome is by taking one day at a time and if I feel like I am on the rollercoaster from hell, I just try to focus on knowing it will stop sooner or later. I also enjoy working out to the best of my ability.

INTRODUCING ADRIAN

Hi I'm Adrian and I live on the east coast of Australia.
  

Throughout my whole life I have always had health issues and I was told I would never be able to do much. Did I prove them wrong!

On the 14^th of April 2014, I was diagnosed with Cowden’s Syndrome. Throughout my whole life I struggled with various medical issues and no one could ever find a cause of all of my problems. From the age of 8 I was in and out of hospital every year. I had problems with my right leg growing multiple tumours which were called angiomyomas.This was so serious that it even came to a stage where the surgeons told my parents that I may lose the leg.

Now at the age of 45 and 2 years into CS, I have learnt so much about myself and honestly the main things that keep me going are my boys.

Adrian and his boys

Without these two little men I think my body and brain would have given up some time ago. Now do not get me wrong I would have never done anything silly, but my day to day activities are made so much easier because of them When my now 4yr old comes up to me and says Daddy needs a hug so he can feel better, that in my opinion is the best medicine a person can get. Yes the weekly doctor’s appointments get up my nose with having to explain Cowden’s and how it affects me to every so called expert . But my boy’s rock. They are my life, they are why I am here and they are my way of coping with Cowden’s.

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And on that note I'll leave you with a cheeky photo from Adrian's boys. Have a great week,

Till next time...xxx
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WE STRUGGLE BUT WE DON'T QUIT - GUEST POST 3

Over 600 people have read the first two posts in " We struggle but we don't quit" series. This shows me that people need these stories of courage and resilience.

Egbertine

Today I'd like to introduce you to my friend Egbertine. Egbertine is from Amsterdam and we first met in an online support group for people with Cowden's syndrome. Egbertine is a breath of fresh air, always full of compliments and always supportive of others. She is also very brave writing in a language that is not her native tongue. I thank both her and her husband for their contribution today.

A WIFE SPEAKS

After  many visits to the local hospital, the words finally came out of the doctors mouth “You have cancer! Cancer? Yes it was to be my curse and I  was going to have to say goodbye to everything that makes a lady a woman to survive. This was going to be very difficult. My head kept filling with questions... Am I dying ? No children? Would my husband, a real family man  stay with me? On top of this, the doctor had also discovered something else in my blood, something very ,very rare. But he wouldn’t be drawn into it yet as he wanted  do more research.

I had long talk with my husband and we realised that “separating" was not a option for us, and we would make the best of it all. The day  finally came for the operation  and my husband left me in the hospital. What I remember after was pain and realisation that I was  saying goodbye to periods forever.

Things did not get better. They got worse. With the next visit to my doctor after my release from hospital, I found he had discovered something new in my stomach. He was also prepared to discuss those blood results. I had been diagnosed with “ Cowden’s syndrome” and my stomach had to be removed or else  I had only two years to live. A little too short in my opinion !

One thing that keeps me going are my animals. They are my life savers so every  year that’s why I do something for  them! One year  I climbed a mountain  and another year I wrote a  book. All the money I raised was for the people who take care off these  little fluff balls!! This year we are organising a big fun -run for all people. It does not matter if you are in a wheel-chair or whatever , you are welcome to take part in this event! What we want to do is make a shelter for those animals who haven't got a chance anymore. We are asking old-peoples  homes to come and  care for the animals. It’s hoped loneliness in the elderly will be helped too, as well as saving the fluff balls.

Egbertine and her friend at work

My stomach has now been removed for nine years and my life had to start over again. I had to learn how to eat again and sometimes this meant I had to throw up in the most ridiculous places. I also had to deal with new surprises from my body, the latest surprise and challenge being epilepsy! Last week my husband had to call the emergency 112 to rescue me. Yes it’s frightening but I still believe that life is more than this and we both have lots more to offer each other.

A HUSBAND SPEAKS

My wife asked me to write a piece to accompany hers, about what it is like to be affected by the terrible disease cancer and Cowden’s syndrome. This is very hard for me. We deal constantly with hospitals and investigations and you deal with love and hope that one day a cure is found for your loved ones and mine.

Sometimes it is indeed difficult for us to have to wait for results. When they are good we become  happy again. Unfortunately  there are also difficult moments. Luckily my workplace is very supportive and nothing is a problem when things are going bad. They are very compassionate people.

I am sometimes sad that I have to deal with this. Fortunately I have several hobbies  such as photographing  our old city of Amsterdam and bike riding for hours, to help me keep my head above water. This is important for me to handle the emotions I go through so I can cheer my partner up, even when I feel helpless. Good friends and colleagues at work are also important to me, as they allow me to offload my story when I need to.

I wish I could tell the future but I can’t. All I can hope for is a long life with my beloved by my side for the next hundred years!!!
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Other than her husband, Egbertine wanted to emphasise how the following people have supported her and how she couldn't be where she is without them. These are her doctor and her health coach:

I hope you have gained something from reading this post. I know that I have been truly touched.

Till next time...xxx
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WE STRUGGLE BUT WE DON'T QUIT - GUEST POST 2

The response from the first post in the series " We struggle but we don't quit" has been absolutely overwhelming. Today I am pleased to introduce you to someone I call my little "Cow sister". Her name is Georgia.

The Adelaide girls - Hope, Tanya, Georgia, Roxanne and a West Australian imposter - me

I first met Roxanne (Georgia's mum) in an online support group for people with Cowden's syndrome. Over the years we have become good friends and have managed to meet up a few times. Roxanne has been a great support over the years and her personal strength is amazing. Her daughter is no different! As they say, the apple does not fall far from the tree.

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My name is Georgia, I am 14 and live in Adelaide, South Australia, Australia, the Southern Hemisphere, the world, the solar system, the Universe. And somewhere in this large space are people like me who are living with Cowden’s Syndrome. Less than 1% of people in South Australia have Cowden’s. I know 3 of them and 1 is my dad. I won’t explain much about Cowden’s because Suzannah is one of my ‘Cow sisters’ and she has told you lots over the years. But basically I am a 14-year-old teenager who has had 12 surgeries to remove tumours from all different parts of my body.

Not many people know that I have Cowden’s, they all just think “This is Georgia and Georgia has surgeries.” Which I’m fine with. The only people I have ever told are my two best friends whom I have known for years. They are very supportive and I am so grateful to have them by my side.

Everyone asks how I cope with Cowden’s, because I am always smiling and happy no matter what happens. The honest truth is I just look on the bright side, even if sometimes it’s so hard to find if there is one. For example in November last year I had a tumour removed from my foot which took 5 months to heal and an extra surgery to fix something that went wrong during the surgery. Yes, it still hurts every now and then but it is not as bad as the tumour pain was. This didn’t slow me down and I performed in my theatre production with a hole in the bottom of my foot.
I also live every day in the moment and I try not to worry about things ahead. I find if I worry about something like ‘what’s the doctor going to say.’ I will get very down and sad which I prefer not to be

Even though I have a rare disease I have done some amazing things in my life. I am a Girl Guide and I am working towards my Queens Guide badge (a high achievement in guiding). I am an s4s representative (Students for Students). I am also a netball coach and I play netball. I have played softball and I am a photographer. I have raised money for Jeans for Genes and I have travelled to many places in Australia with my Guide Unit and met amazing people. I have learnt a lot about leadership.

I have met many amazing people who deal with Cowden’s. When I was born the doctors told my parents that I would never walk or talk, but my mum and dad never gave up on me (it helps that my mum is a nurse). And  look at me now.

I am resilient.

GEORGIA

I am living with Cowden’s.

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There is so much to be learnt from Georgia's attitude! So glad I have my little Cow sister in my life to teach me.

Till next time...xxx
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WE STRUGGLE BUT WE DON'T QUIT - GUEST POST 1

When Dr Charis Eng linked mutations in the pten gene to Cowden's syndrome, she also noticed that her Cowden Syndrome patients had an abnormally high number of kids with autism or other developmental disorders. Studies have indicated that 1 in 88 children may be affected by some form of these disorders.

I first met Michelle in an online support group. Both she and her daughter Indigo have autism. Indigo has a host of other conditions including Cowden's syndrome.

Michelle's words on the eve of Autism Awareness Day (April 2) touched my heart. With her permission I am printing these words so we can all learn from them. She and her husband struggle on a daily basis, but I am always bowled over by their resilience and the way they find gratitude and joy in many situations. These people are not quitters and all they want from us is acceptance for their daughter.



April 2 is Autism awareness day. We are not interested in awareness. We want acceptance for our daughter. To be able to go out and about without being cringed at or people making cruel remarks about her being disabled. We have heard them all.

" yeah, she's autistic but can't you shut her up?"
" i don't want to look at that while i'm eating"
" you should have aborted it"
" why can't she talk"
" can't you discipline her?"
" that safety harness is against her human rights"
"Look at the retard"

I feel quite honestly, that at the age of 6, it is quite obvious due to the noises she makes, the way she acts and that she doesn't talk means shes disabled, not badly behaved and requiring discipline. Autism is a widely known concept in the world these days, many people know a neighbour, student at their kids school or relatives in their own family. It is not rare. 

I believe awareness is long past now and its time for some acceptance for these kids as they try to make their way. I would also make the request that if anyone (while in conversation with others) feels the need to talk about pre natal tests being available to test for autism, a cure is necessary, or argue about how much tax payer money goes to children like that, please remember that someone at your table may actually be autistic, have a child, relative or have a loved one who is autistic. Words like these are harmful and hurtful. 

Remember people with autism are people with feelings, and deserve respect just like anyone else on the planet.
                                    Michelle

Till next time...xxx

Indigo and Michelle

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A COW AND A CALF

I am publishing the following with my daughter's permission. It is her decision to share this news and she has not been coerced by me in any way. My daughter is 21 and has an intelligent, strong mind of her own.

As many of my family and close friends know, back in January I got tested for Cowden syndrome. Cowden syndrome means that I am prone to getting lumps and am at a higher risk of getting cancer. It is also known to be the cause of AVM's to grow so fast (as demonstrated by the AVM that was growing in my brain.) 1 in 200,000 people suffer from this syndrome in the world. 2 of them in WA.
Yesterday I was the 3rd person to be diagnosed in WA with the condition. This now explains the reason behind my brain problems. Am I happy that I have been diagnosed with this condition? No not at all. But it's now nice to finally have an answer as to why I have been so ill for these past two years.
Cowden's is not curable. It is something that has been with me since birth. Why am I writing this on here? Because I want people to know that I'm ok. There's is no label stuck to my head that says that I have Cowden syndrome. I am going to live life to the best of my ability, as I have done so for the last 21 years. Thank you to my parents, sister, extended family and close friends for their love and support over the last few days. I will continue to ride this crazy train that we call life, to the best of my ability xx Ashton

Of course as her parents, Mark and I are shattered because we held on to a sliver of hope that the result would be negative. However realistically we are not surprised, the evidence has been mounting for some time.

There are some differences to my diagnosis and my daughter's diagnosis. I was 44 when diagnosed. She is 21. I spent a long time wondering why things were happening to me and wondering why I was different. She is diagnosed at a young age. She knows what the problem is and I can not begin to explain the relief this brings. It sounds ridiculous to use the word relief but not knowing hurts and drives you crazy. When you know, you can plan and be pro-active. Also, the doctors take you more seriously.

In the 5 years since my diagnosis the genetics field has literally exploded. There are things I know now that I didn't know 5 years ago. There are discoveries being made all the time. It is quite possible that within Ashton's lifetime there will be a way to manage this situation, this genetic condition, better.

Yesterday, Ashton joined the online support group COWDENS SYNDROME AUSTRALIA. Again it was her decision. She was welcomed into a warm, protective environment and promised support by most of the other 35 members in this country that also have this condition. She was overwhelmed by their kindness and offers ofhelp.

Most importantly, Ashton has me. This is not a condition that is unfamiliar to her as she has seen me live with it for a while now. I'd like to think that will in some way help.

I've often said that our life is in God's hands. I firmly believe there is a reason for all this and that HE knows what is best for us. My diagnosis and my various conditions have brought out qualities in me I never knew I had. I'm sure the same will happen for Ashton. Everything certainly happens for a reason.

Thank you for continuing to follow OUR story. I still can not get my head around the fact that when I started this blog, it was about me and my journey. I never, ever in a million years expected this twist to occur.

It helps so much to share the story. Please understand this is therapy for me and will continue, with my daughter's permission when necessary. I respect the fact she is an adult, at all times. I am also aware of the impact on my other daughter and husband and word my phrases carefully.

Please continue to pray for us. 1 in 200,000 and we have been struck twice.

Heads up and best foot forward.

Till next time...xxx