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

FRUSTRATION, PATIENCE AND BROWNIES

I have been staring at a computer screen for days trying to overcome the writers block which has overtaken me. You see I can't think straight anymore and I find I also can't talk without effort. I certainly can't be creative and to a certain extent creativity is required in a blog. At one stage I even considered deleting it all so that I wouldn't have to write any more.

This story you see is starting to take its toll on me. Waking up every day and facing what is in store is draining the heart out of me.

Last week we found out  that the fistula in Ashton's neck has grown considerably . You may remember that the doctor was on a mission to destroy this fistula back in November, when a problem in her thyroid stopped proceedings. Investigations followed and  plans were made to reassess in another year. Problem solved....or so I thought.

You would have thought it was then a simple case of getting back to the original plan. Hell no! First it took over two weeks for a report to reach Ashton's doctor. By that stage he was off on leave to welcome baby number 3. (!!!) Then it was Christmas. Then it was New Year and THEN he went on holidays.

Now we certainly don't begrudge him his down time. This doctor and his team work bloody hard. But when we finally got to a review early January and found out the fistula had grown significantly, we didn't expect to have to wait another 3 weeks to get to theatre.

Yes, I know about triage. I get triage, but I don't like it when my daughter's condition has become worse. But its pointless isn't it? Its pointless to moan because there is nothing I can say or do to influence the tight schedules and tight budgets  these doctors work under. All we can do is carry on and pray.

                                                      
And eat chocolate. A friend just brought me a plate of homemade brownies and they are to die for.

My support crew has gone into overdrive. My news feed and messenger is filled with  positivity and prayers and virtual cuddles. They can tell that I am close to breaking point. But...that is not an option.It never has been.

Last night I messaged another mother whose teenage son is going through a shockingly similar situation. I needed someone who gets it. She told me not to let the Devil get a foothold in my mind. Now I'm Catholic and we don't seem to talk much about the Devil, but for some reason this comment made sense. Don't let your mind be full of negative thoughts. Don't let these thoughts take over your thinking. Just remember God is on the case. 

 I get it.I've always got it. I just forget and lose hope every so often.

Today was no better. Ashton developed a headache overnight and though I suspect the assignment due today was a contributing factor, she has no option but to head to the ED and submit for more tests. Stress? Tension? Fistula ? Who knows? There is no extra blockage, so this time it might be a normal people's headache. Shame she can't manage it like a normal person would. Imagine if we all had to go to the ED everytime we had a headache. Saturday mornings would be crowded!

So that's the 19th almost done with and that means 18 days till surgery. Let's hope this fistula doesn't increase anymore in the meantime. Enough is enough.

Till next time...xxx

REACH OUT AND TOUCH

I hate to admit it but all of a sudden I'm sort of glad that my book was turned down last year. Why the change in heart you may ask? Well ...simple...what I'm now writing is already so much better. Sometimes I'm finding myself totally engrossed in the stories, so much so I forget I'm one of the leading characters. I guess it's surreal what this family has been through in the last ten years.

During my writing something has frequently crossed my mind. When someone you know has an illness or is going through some misfortune, I have always felt that making contact and offering help is the proper action to take. But what happens (like in our case) where our lives are a nonstop barrage of illnesses and misfortunes? What are people supposed to say or do then? I'm acutely aware that people must find us a bit hard sometimes. What do you say to us? What do you do for us? I have found in the last few years that its too hard for some people and they simply start to move away from us.

I know that often they move away not because they no longer care but because they don't know HOW to care the twentieth time round. OR they are scared of saying or doing the wrong thing. And I suppose scared you should be because in these situations emotions are often fragile, patience is limited and thoughtless comments are not easily tolerated. I myself admit to distancing myself from those who say the wrong thing at times when I have been at my lowest.I miss the company of these people but I don't miss their lack of empathy. Only  time will tell if those friendships can be salvaged, but at this rate too much water will have passed under the bridge for this to happen.

The correct thing to do when people are going through ongoing drama is to stay in contact. I emphasise this is my opinion but its one based on considerable experience. But there are some guidelines here, an etiquette which needs to be observed. No matter how good a friend you are, immediate family must come first. In our case the husband and I have nine siblings between us. Add in grandparents and our other daughter (who is priority number one) and you'll understand how hard it is to maintain contact with other people when a situation is playing out.

So what can you do if you find yourself in this situation? Firstly, do not take offence to any lack of contact from those experiencing the drama. Appreciate how physically and mentally exhausted they are. It is your job to keep in contact if you value the friendship - text, send an email, leave the occasional message on Facebook, send a card, drop over a meal in crisis times, offer to do shopping...you'll think of something.  It's not hard!

And I'm not sure if you know this or have experienced this yourself but sometimes the period soon after coming home from hospital can be just as hard. I think you cope during the drama with adrenalin and then it's over for a while and you crash. That's when a visitor who turns up with a bottle of wine or chocolate and company can be such a help.

I really never set out to write this but now it's done I hope it helps someone. Next time someone has a death in the family or is going through a medical drama, make contact. Reach out to them in whatever way you can. Do not say " I'll call you when everything's over". For some people ( like my family) there is no end date. Reach out now. Who knows? You might make someone's day.

Till next time...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

THE PLAN IS TO KEEP BUSY

Today life starts to get back to normal. The husband goes back to work. My house guest returns to Perth and I start throwing out any Christmas leftovers. Are we the only ones still munching on fruit mince pies and chocolate? Much as it's going to kill me its all going in the bin.

I've also made another decision. I'm going to give my book another shot and stop feeling sorry for myself about my two rejections. 
" Mum, JK Rowling got rejected heaps of times" said my daughter (with teenage eyes rolling in impatience at how naive I was).
 " Don't give up".

I've thought about it for the last few weeks over mohitos in Bali, over turkey and mince pies in Perth and over Christmas cake and left over ham back home. And I've decided finally that I have nothing to lose and that I need a project to stop me from climbing the walls in between medical appointments. If it also raises my spirits then that's great. And yes I know, it could get rejected again. I'm prepared for that.

Stay tuned for more as the project unfolds and the question in my mind is answered. Can I get rejected more times that JKR?

So, time is suddenly marching on and as usual it's in a hurry. Christmas ads on television have given way to Australia day advertising. Pamphlets selling Christmas goods are now selling hot cross buns! What ever is the rush?

On the home front a few occasions are looming. My eldest daughter will soon have an MRI to check out how her brain and neck blood vessels are behaving. I am due a colonoscopy which after cancelling prior to Bali, I now must have. This is my most disliked procedure in the universe, but unfortunately people with Cowdens syndrome often require these.

A more pleasant occasion in the next few weeks to plan is a 21st birthday party for my favourite eldest daughter. I am determined that she will have a night to remember and that it will wipe out some of the bad moments from the last 18 months. Venue, dj, food, dress, gift...yes I have loads to do.

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