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.

                                                   ----------------------------------------

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
ST

THIS TOO SHALL PASS - I'M HOME

So, its been a busy couple of weeks. The girls are safely moved into their new rental which is a lot nicer than the old one and has a lot of room. So hopefully they will be happy there because I'm not helping anyone move again for a very long time. What a job!

With that over, it was time to revert to medical nonsense. As its almost time for a checkup with one of my specialists off I went for the required CT scan. It went well but suddenly at the end I started to feel most unwell and started to react to the dye they had injected into me. They said it was a mild anaphylaxis. Oh my God! I never do anything the easy way. I ended up having to spend a few hours in the observation ward before being allowed to leave. The doctor said he had never seen a reaction like the one I had. Hahahahaha ...nothing new there.

When I was  finally allowed to leave I headed off down to the carpark and went to pay. There for all to see was a sign I swear wasn't there on my way up - "does not accept credit cards". Now I don't carry much cash on me as a rule and having been for lunch with a girlfriend prior to coming for my scan, I was low on coins. I couldn't believe it! But within a couple of seconds every person in the queue had put their hands in their pockets and given me a few coins to pay my parking. I was overwhelmed by their kindness and ever so grateful that there are good people in this world.

Yesterday it was time to drive home to see my husband and rest. After an operation, a drain I carried for five days, an adverse reaction to a CT scan and a big move, it was time to go home to my own house. I was feeling unwell but the drive had to happen. (Remember I live four and a half hours from my children so its a long drive.) It was a spectacular day weather wise (so that helped) and I saw my favourite emu by the side of the road so I managed the trip OK.

But by the time I got home I was absolutely exhausted. I felt worse. I felt burning on my back. I was drained. Checking in the mirror my worst fears were confirmed - shingles on my back. Like I said I don't do anything the easy way. Bed for me and a long sleep for 4 hours!

The husband came home and we had dinner. He then wanted to go for a quick drive to get the paper and I said I would go with him. I still felt exhausted but sort of felt he wanted the company and thought it wouldn't hurt me.

After a quick drive around we came back home to get ready for bed. And that's when we realised we had left the house keys at home. We had no way of getting into the house. My husband was totally and utterly unimpressed and claimed that he was getting too old to try and break into his own home. As it was after 9pm it also wasn't safe. We decided to go check into a motel and sort it out in the morning.

Every single motel in this damn town was SHUT. The husband by this stage was getting angrier and angrier. I suggested we sleep in the car till the morning and hoped my bladder would last. He was horrified. My husband loves his pillow more than me sometimes.

More accurate than you think

With about 5% charge left on my mobile, I finally managed to locate an after hours locksmith. He said it would take him an hour to get to us. I wondered if he was going to have a quick nap first because really what the hell would hold him up an hour that late at night?

Finally at 11pm he arrived. It took him 5 seconds and cost me $150. Normally I have no money ( as I said above ) but luckily this time I did, because he required immediate payment.

Grumpy husband put to bed.
Shingle Suzi put to bed.

Rocky start to my return home, but this too shall pass...and it gave me something to write about!

Till next time...xxx

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

TOO HOT TO BLOG VLOG

So, I look terrible today. My hair is in need of a colour and I've got no makeup on. Of all days, today I decide to do a video blog. I think the 41 degree heat has cooked my brain. Anyway today it was time to go to genetic services at King Edward hospital for Ashton to be tested for the Cowdens gene. She took it in her stride and I suppose it's done now and all we can do is wait and see. A positive result changes nothing , but would finally give a reason why the fistulas grow so rapidly. A negative result leaves a reason for her condition still a mystery, but means her risk for all the Cowden's related issues remains the same as the general population. There is no winning here.

Ten days to her next surgery. We are keeping busy and trying to laugh lots. Making these videos helped.

Nine weeks of waiting for a result! Oh well

Till next time...xxx

PS It took me absolute hours to work out how to upload the videos. Hope the links all work. You see...you can teach an old dog new tricks. Off to the hairdresser. Have a lovely day xxx

MY PHOTO SHOOT

Tomorrow I have a photo shoot. Photos of my body will be taken for the pleasure of a select few. I will wear the latest in fashion and later feast on the best the earth can provide.

Yer right!

Let's start that again. Tomorrow I have an appointment for a colonoscopy and endoscopy where all the photos taken will be of my insides, and seen by my doctor. Having already cancelled before Christmas, I have no option but to attend this one. Couture of the day will be your normal blue gown, where your bottom hangs out if you forget to hold it discreetly. And it won't be fine dining. It will be a sandwich and yoghurt. It's always a bloody sandwich and yoghurt.

But before we get to the sandwich and yoghurt phase, I need to get through today. Today is day 2 of preparation. Yesterday was "no fibre" day. No fruit, veg, grains, just some meat and white flour products. It's amazing how unappealing white bread is after years of multigrain. I swear it just melts inyour mouth and tastes like sugar. 

Today after a lovely breakfast of more sugar tasting bread it's a liquid only diet. So far so good but there are distant rumblings and I know it's going to be a long day, one that will culminate in a date with the toilet bowl.

Enter my least favourite drug in the universe - picoprep. Sorry Fresenius Kabi ( what a name), but I'm not a fan. I know it's necessary but honest to goodness, it's like a human vacuum cleaner in a pill. As it says on the package it does a

bowel evacuation. Oh the indignity of it all. I'd rather evacuate the premises.

Because I have far too much time on my hands my brain wanders in many directions. Why is the package green? Green has a strong emotional connection with safety according to Dr Google. Hmm I think a browny/yellow colour may have been more apt in the circumstances.

But marketing people are quite savvy for safety is indeed the reason why I will subject myself to this drug in a few hours. Those of you who have been with me on this blog for a while now may remember  my first date with the gastroenterologist who will perform my procedures 
tomorrow. When I woke from the procedure, he sat by my side and told me had never seen anything like it before. My gastrointestinal system is like a foreign country with waves and waves of what initially looked like polyps. He said that I had literally hundreds upon hundreds of polyps and luckily at that stage I didn't know that normal people freak out if they have just one. What he had just seen was the blanket of hamartomas common 
in Cowdens syndrome patients.

Hamartomas are benign growths. They are not malignant tumours but do  grow along with, and at the same rate as, the organ from whose tissue they are made. Unlike cancerous tumors, they rarely invade or compress surrounding structures but it can happen. It's not very scientific to say this, but in my family if it's rare that will be us. So best they are monitored.

Amidst the hamartomas, polyps can be (and in me have been) found. Thank God all benign so far. The risk of colon cancer in CS sufferers is about 9%. Not sure what it is in non CS people but it's high enough for me to make sure I'm tested and my hamartomas and polyps are monitored.

The time has come to have a stand off with a glass of something that looks like milk...gross...I hate milk. Expecting the salty water taste I experienced the last time I went through this ordeal, I am pleasantly surprised. It's lemon ... a bitter lemon taste. The concoction is drinkable and I knock it off quickly. Now to sit and wait...or was that wait to ...? Yes, I know...not funny. Believe me, I'm not laughing.

Can't wait till tomorrow is over.

Till next time...xxx

                                        

AN AMERICAN SUPERSTAR

Across the  miles, in a country I can only but hope to visit one day lives a dear friend. Funnily enough

though we have never met in person.

Lori Thompson Ortega is  my sister from another mister. We first met in an online support group for Cowden's syndrome and over the months I was taken aback by how similar our lives were and continue to be.

Like myself Lori is a breast cancer survivor and diagnosed with Cowden's syndrome. She is also a teacher ( like me), a blogger ( like me) and yes I'm going to say it hard headed, focused and resilient ( like me!). We both have husbands who maybe though short on words have well and truly earned a place in heaven.

I wish the similarities end there but they don't. We both have children who in recent years have been through hell and back with their health. Both kids have had arteriovenous malformations, both have had thyroid issues, both have lost their favourite pet in the last twelve months. Both refuse to let their conditions define them. Meghan swims and does well at school, my daughter is determined to finish her degree.

There is one difference at the moment. Eleven year old Meghan has been diagnosed with Cowden's syndrome but the jury is still out as to whether my daughter also carries the faulty gene.

The story of Meghan Ortega is one of bravery and resilience not usually seen in an eleven year old child. Recently, a newspaper in the States published her story and with her mother's permission, I have suspended my blog this week to bring it to you.

12 SURGERIES IN 11 YEARS; LIVING WITH COWDEN'S SYNDROME

STATEN ISLAND, N.Y. -- Meghan Ortega, a Westerleigh sixth-grader, is one of my favorite dental patients and one of my twin daughters' dearest friends.

A graduate of PS 29, Meghan is a Principal's Honor Roll student at Markham Intermediate School in Graniteville. She loves drama, is an avid reader, loves to swim and has a broad smile and sunny disposition.
Meghan also happens to be one of the bravest kids I know. In her 11 years, she has had 12 surgeries. Twelve. She hurts every day, but has learned pain is part of her life.
Meghan has a rare genetic disorder called Cowden's syndrome. Cowden's falls under the umbrella term of PTEN hamartoma tumor syndrome. The PTEN gene, which suppresses tumor growth, malfunctions, resulting in benign and malignant tumors developing all over the body.
Approximately 30 percent of children with genetic disorders die before their fifth birthday, so Meghan is fighting for her life with preventive screenings and surgery.
As her dentist, I saw firsthand one of the oral manifestations of Cowden's syndrome -- a suspicious gingival (gum) growth -- for which I referred her to an oral surgeon for biopsy and excision.
Not once did I ever hear Meghan complain.
The PTEN gene is passed on in an autosomal dominant pattern and is rare, affecting one in 200,000 people. The cancer risks are high; the lifetime breast cancer risk seems to exceed the BRCA risk, and there are significant risks for thyroid, uterine, kidney, skin, colon, and countless other malignancies.
To keep a close eye on the disease and its progression, Meghan sees doctors regularly for preventive screenings -- including biopsies.
But she is just happy that she finally has a diagnosis.
When Meghan was a baby, her parents, Lori and Felix knew something was "not right." She was chronically ill. She suffered with gastrointestinal distress well past her first birthday, and her diet had to be free of gluten, dairy, soy, dyes and preservatives. Her gallbladder was removed when she was 3 years old.
Meghan also had a lipoma taken from her back and her tonsils and adenoids removed. She had to have a complete thyroidectomy because of 19 rapidly growing abnormal nodules on her thyroid gland, three of which were deemed pre-cancerous.
The most notable of the surgical procedures for Meghan's abnormal growths were the five she had to undergo as a result of an AVM (arteriovenous malformation) in her right knee. While AVMs are not exclusive to Cowden's syndrome, there is an increased incidence in the population.
Recently she was hospitalized for a week because the medication that helped control the AVM in her knee caused damage to her GI tract and her esophagus.
She was taken off that medication and is healing, but the pain has returned to her knee.
It is one of the constant smaller battles she fights with side effects of the multiple medications she must take.
Meghan is often at a doctor's office. Barely a week goes by without at least one appointment. She waits like a champion for hours on end, because she is conditioned from years of practice.
Lori, her mom, firmly believes Meghan saved her life -- because of Meghan's diagnosis, she also was tested and confirmed positive for the PTEN gene mutation. She had surgery as well, a prophylactic double mastectomy.
In a world where we often get wrapped up in trivial annoyances, Meghan is an inspiration, a reminder that in the great scheme of things, people all around us are fighting real battles.
Although Meghan has met some great friends along the way, it is often a struggle for her to relate socially to most children, who likely have been to the doctor only once a year their whole lives.
Meghan's experience of living with Cowden's, combined with the food issues, can be isolating for her, realizing early on that talking too much about pain to her peers can also increase the isolation: It is hard for them to relate.
So she threw herself fully into support of other children and adults who have rare diseases, like the one she and her mom share.
She worked with one charity, the Global Genes Project (www.globalgenes.org) soon after she was diagnosed.
Meghan also sought a symbol for those with multiple medical issues and what developed was beautiful: A denim ribbon, a nod to the slogan, "Hope, it's in our Genes."
The first year after her diagnosis, Meghan simply wanted to hand out Denim Ribbons on World Rare Disease Day. The second year, she worked with the Student Council to organize a successful fundraiser at school.
Now, Meghan has struck up a friendship with Borough President James Oddo, who has invited her to Borough Hall several times to talk about ways she can make a difference. He has become her mentor, helping her find her voice.
This year, Meghan has organized a fundraiser to be held Sunday, Feb. 15, at Nicotra's Hilton Garden Inn in Bloomfield, to raise awareness and money for rare diseases. To help others like her, many worse off.
Her goal is to educate everyone about rare diseases in general.  She is acutely aware that everyone struggles, but wishes there would be less judgment and more support. One of her pet peeves is people who say, "You don't look sick."
For more information about Meghan's journey and to support her fundraiser, please visit her blog, www.beatingcowdens.com.  Tickets can be purchased at www.eventbrite.com.

 http://connect.silive.com/user/Gracelynsantosdds/posts.html

Till next time...xxx

SAME NONSENSE, DIFFERENT YEAR

Welcome to 2015 and welcome to my ongoing story of life with a rare genetic disorder called
Cowdens syndrome. With almost 700 people following my blog now, I feel a New Year is the time for a recap. To those of you who know me well, now may be the time for a cup of tea.

I am a 48 year old woman, married with two adult daughters and living in Western Australia. I am a passionate Westcoast Eagles (WCE) supporter,
love a good coffee and and can get lost in my iPad for hours. I love my family and once upon a time (seems like ages ago), I was a high school teacher.

But in 2009 when I was diagnosed with Cowdens syndrome my life changed dramatically. It's hard to put into words how it is different,but all I can say is that nothing has ever been the same since my diagnosis. I still love my WCE , my coffee and my iPad but I am different inside.

A lot of people who read my blog ask me about Cowdens. Basically it's a condition where the controls that stop cells growing aimlessly are faulty. In some this results in cancers and in many, growths or lumps of all descriptions. The problem with Cowdens is that the condition manifests itself differently in each person who has it. It is most confusing and most debilitating and no two people are the same.

The last few years have been a whirlwind. Countless surgeries to remove organs and tissue bursting with tumours, cancer not once but twice, a bilateral mastectomy and an immediate menopause following removal of ovaries. The list is seemingly endless.

I type it all now and I feel nothing. I don't feel anger and where once I felt sadness I now feel none. Maybe if anything I feel resignation. I certainly know that it's no point wasting my energy worrying about it all. Better to use the energy to deal with it all. And deal with it I have to...the lumps, the side effects, the doctors, the tests, the costs, the time off work, the ensuing anxiety and depression. Who has energy to waste on things which are done and dusted?

However, since mid 2013 my so called bravado has been severely tested. My eldest daughter ( age 19 at the time), was diagnosed with an aggressive dural fistula. For those who don't wade regularly in medico lingo, this basically means that unusual connections had been formed in her brain and these were dangerous.

Her story continues to unfold 18 months down the track. Though she is improved, she is not fixed and our new year will consist of soldiering on with more testing and more surgery. In 2015 she will also be tested for the gene that causes Cowdens syndrome. While the specialists who dealt with her early on felt there was no link to my diagnosis, her current specialist, her life saver, feels it is highly likely. Time will tell. A negative diagnosis is preferable and a positive diagnosis will not change treatment. It will merely answer the "why" which frequently hangs in the air.

There are two other members of this family. My youngest daughter is an actress and a soon to be first time university student. My husband is my strength and my rock. Both of them have had more to deal with than is fair. Sometimes, when health issues are not so pressing, they get a mention!

Thanks to this blog and social media, I have been able to link up with other CS patients worldwide. I can't begin to explain how exciting it was and continues to be to meet like people. Some have their own blogs and if you are interested their links appear frequently on mine. We are a close knit bunch despite the distance between us all. To this date I am yet to meet another in my state with this condition. However, a highlight of 2014 was starting the Cowdens Australia support group through facebook. Our membership is currently at 33. They are my " other" family.

I like to tell stories and hope you will stay with me and explore what 2015 has in store for me and my family. Please leave comments whenever you like. I read them all. Also, please share my posts whenever you can as it helps me get the word out about the syndrome.

So, basically that's it. You are welcome into my world and if you get something out of following me, that's great. Being inspirational however is not my goal. If I have to have a goal it would be to keep my whole head above the water for the whole year and preferably beyond.

  

"Onward and upward..." (C.S.LEWIS)

Till next time...xxx

ST

HERE WE GO AGAIN 2

The FED is unable to drive for a while so I have been her  personal chauffeur.  And its during one of our outings, on the way to an anaesthetist's appointment, that I notice her grimacing in pain. She tries to explain the short stabs of pain to me but I don't understand them. I'm not a doctor after all.

She casually mentions the pain to the anaesthetist who suggests we get it " checked out". This phrase I've learned is a sort of homonym for "oh oh". She knows it and I know it. We organise another visit to the neurosurgeon who luckily is seeing patients today.

The neurosurgeon looks terrible. He has a very painful knee and is obviously unwell. He looks sad nevertheless to see his " personal project" as he calls her back, and his pain in no way influences the attention he gives her. She explains her pain and he nods trying to piece it all together. He finally admits he has no idea what this latest pain is but he is no longer prepared to wait for surgery. Surgery is now next week instead of next month.

We always try to look for positives and we go through them all. Yes its sooner and we don't have to wait as long. Yes it means she has a longer recovery time which should increase her chances of going back to university next semester....blah, blah, blah... 

I have no idea as yet whether my daughters have inherited the Cowdens gene and I have no idea if the condition the FED is dealing with is Cowdens related or not. What both conditions appear to have in common is the fact that in a very short period of time, the direction of the treatment or the condition itself can change dramatically. One minute everything is going so well and then literally within hours you are in a hospital. This means that we are often on edge waiting for the next bad thing to happen. Its a stressful way to live and it could knock you down if you let it.

Recently a new member to the support group ' Cowdens syndrome- Australia", asked me how I cope with all the things that could go wrong or do go wrong with Cowdens syndrome. Because she is new to the condition and feeling overwhelmed I told her you get used to it. I lied. You never get used to it, you just learn to deal with each situation as it arrives. You just open your arms and take more and more in AND YOU COPE BECAUSE YOU HAVE TO. Its hard.

Before we left the surgeon's rooms, he looked at my daughter and told her about a patient he had treated recently. He told her that he had removed a giant tumour from the woman's brain and now three months later she is playing hockey for Australia in the UK. He promised the FED that her outcome would be equally as good but he couldnt promise that the hockey skills would be on a par with his other patient. It was exactly the story of hope we needed.

Some doctors just have the knack.

Hope his knee is better by next week.

Till the hospital xxx