Medical Rarity `23

No tests near Christmas? How wrong was I!

December will be quiet I thought. Nothing will happen in December I thought. Oh no. Wrong again. I had a lump on my left arm, just by my shoulder. As is usual with these things, it had been there for ages, causing me no issues, so you tend to leave well alone. Well, given my diagnosis of Cowdens and cancer potentials, I’ve started to be more observant of these lumps and bumps. Off I trooped to the surgery to get it removed.

12 stitches later I was on my way home. Results due in a week and stitches out in 10 days. The stitches ended up being in for 14 days as the wound wasn’t healing well enough but the good part, no cancer. It was a keloid scar. So much for a Christmas free Cowdens!

On the left: Taken the day of the removal. Above:Taken a few days after stitches removed.

Knowing people with it and finding yourself comparing.

Comparing yourself to someone who has the same rare illness can be a complex and emotionally charged experience. It’s one of those things that you do without thinking sometimes. But is it beneficial? Does it help or hinder?

Unique Experiences: Even if you and the other person share the same rare illness, your experiences with the condition can be very different. Factors like the severity of symptoms, treatment options, and the overall impact on your lives can vary significantly. It’s essential to recognise that your individual experiences may not be directly comparable.

Emotional Support: Connecting with someone who shares your rare illness can provide a valuable source of emotional support and understanding. You can exchange information about managing the condition, share coping strategies, and provide empathy and encouragement to each other.

Avoiding Negative Comparisons: It’s essential to avoid unhealthy or negative comparisons. If the other person appears to be managing their condition better or experiencing fewer symptoms, it’s important not to blame yourself or feel inadequate. Rare illnesses can affect people differently, and it’s not a reflection of your strength or resilience.

Focus on Shared Goals: If you choose to compare yourself to someone with the same rare illness, try to focus on shared goals and accomplishments. You can work together to raise awareness about the condition, advocate for better treatments, or participate in support groups or research initiatives that benefit the entire rare illness community.

Maintain Individuality: Remember that you are a unique individual with your own strengths, weaknesses, and life circumstances. While it’s natural to seek inspiration or guidance from others with the same condition, it’s important to preserve your individuality and make choices that align with your personal goals and values.

Seek Professional Guidance: It’s a good idea to consult with healthcare professionals who specialise in your rare illness. They can provide tailored advice and treatment options that are specific to your needs and may not be the same as what works for someone else with the condition.

Positive Comparisons: Use comparisons as a source of motivation and inspiration rather than self-doubt. If someone with the same rare illness has achieved certain milestones or overcome challenges, view it as evidence that such achievements are possible, rather than as a measure of your worth.

Looking at yourself in comparison to someone with the same rare illness can be both helpful and challenging. Make sure that you get the support you need.

I often hear from people, “this is so much to deal with”, “all those risks of cancer”, “all the hospital visits”, “all those tests you have to do.” Seriously, how do you answer that without getting deep into your medical history? I keep it simple. My answer, “I’ve had Cowdens for 50 years without knowing about it. You just get on with life. What else can you do?”

Has Cowdens changed my life?

Well, I suppose it’s given me answers more than changed my life.

  • My medical history now makes sense!
  • My endometrial cancer diagnosis (2013) now makes sense.
  • My big head makes perfect sense. It was a standing joke as a kid that I had a big head!!

Moving forward with Cowdens:

  • I’m a regular at Sunshine Coast Hospital, to the point they say, “welcome back”.
  • I have yearly scans in June of each year.
  • I have a yearly mammogram in January of each year.
  • I have a yearly colonoscopy in August of each year.

So, has it changed my life? Apart from hospital tests, no, not really. I get on with life. What happens, happens. If something gets flagged from a scan, we deal with it. Life has to and does go on; I can’t live life thinking “what if….”

Before I get into the subject I plan to talk about, I had some news. I recently had a colonoscopy and was waiting on pathology results.

They came through and thankfully there were no cancerous or pre-cancerous cells. That was exciting enough, but then following a conversation with the colonoscopies have been pushed back to yearly! It seriously feels like I won the lottery. Yearly for life I can definitely live with.

If something turns up…I’ll deal with it then.

Active v Preventative Treatments.

This month I wanted to discuss active versus preventative treatments. So many people I have spoken to with Cowdens want preventative surgery. They all have their own reasons, whether that be simply for their own piece of mind or an underlying family history. However, some don’t want the preventative route. I’m one of those. 

Several times since my diagnosis, I have been asked about whether I would consider certain treatments, certain surgeries. Even on the day of diagnosis with my geneticist, I was asked to consider seeing a surgeon to discuss the need for a double mastectomy due to the high risk of breast cancer. I was asked to see a bowel surgeon too, in order to discuss the need for bowel surgery. But here’s the question. Active or preventative – what’s best?

The answer of course is that every person is individual. Cases and needs vary and so does the requirement for ongoing treatment. I spoke to a lady who informed me that she had taken the opportunity for preventative surgery due to family history.

I have looked at preventative surgery and talked to surgeons. I have a great team caring for me who are upfront, honest and I have the utmost trust in. However, after much thought and discussion, I have gone the way of active surgery. I plan to continue with my scans as usual. I will have my yearly colonoscopy. But I will not be having extra scans to go looking for something that I have no symptoms for and that might not be there. If something shows up, I will deal with it.

I’ve had Cowdens for 50 years with no knowledge and I’m still here! I cannot stress over something I can’t change.

Life is way too short to worry. 

Return of the colonoscopy

Every good movie has sequels nowadays doesn’t it. George Lucas got Empire and Jedi to follow from Star Wars. Robert Zemekis got 2 more Back to the Future sequels. Me, I have my own sequel. This is “Return of the Colonoscopy.” Except mine is the 4th part….so far!

Dear Diary…

Sunday 6th August

Tomorrow I am blessed with a colonoscopy. My 4th since March 2022. They’re not fun things to have. 3 litres of prep to drink in a short space of time and stay close to the bathroom. Believe it or not though, the hardest part is the recovery afterwards and not the prep.

Why so many colonoscopies I hear you ask? For those of you that don’t know, or haven’t kept up, it’s due to Cowdens Syndrome, which is a genetic illness I discovered I had in 2022.  1:200,000 people have it and there is no cure, just management. What it does do, is put you at the risk of cancer, lots of cancers, including bowels, hence the colonoscopies.

Monday 7th August:

The colonoscopy went ahead without a hitch. I have to have these for the rest of my life and so I stressed to the Dr that I wanted the gap in between to be as long as possible. I have been nicknamed ‘the polyp farmer’ as due to the Cowdens I grow so many of the things. This time round they cut out 98 polyps. Each one has seen between 50-150 removed at a time.

The Dr gave me a 9 month reprieve this time dependant on pathology, which thankfully showed nothing. Considering the number of polyps that have been removed over the last 18 months, I’ve been incredibly lucky to have no cancerous or precancerous ones there. From now on I have also been put down now for ‘maintenance’ colonoscopies as opposed to treatment ones. That is certainly good news.

Cowdens Syndrome is one of those chronic illnesses where everyone’s different. No two people have the same symptoms. One may have thyroid issues. One may have breast cancer. One may have no issues whatsoever. Me…I’m heading to my 4th colonoscopy since March 2022. Of course, I know some have it worse than me, but I hate these things.

  • 5 days of a certain diet.
  • A day of clear fluids.
  • Afternoon/evening of taking the prep.
  • Following morning taking more prep.
  • Having the colonoscopy.
  • Dealing with aftereffects.
  • Waiting for results to see if there was cancer there.
  • Follow up treatment.
  • Knowing you have to do it all again in 6 months.

Still, 6 monthly colonoscopies are much better than the potential surgery that I still face.

The other thing that still bothers me, and it may just be me being impatient, is post thyroid. Mine was done on 28 April, so almost 3 months ago. While my talking voice isn’t too bad, every now and then I seem to hit a low pitch.

I’m also well renowned for singing along to music in my car and that’s problematic right now. The pitch I can reach is very different to before surgery. Previously, I might have reached some high Kate Bush ‘This Woman’s Work’ kind of notes. Now I’m more Dire Straits, ‘Brothers in Arms’. It’s funny but it’s not, if you know what I mean. I get fatigue in my voice too. I would happily sing though a song but can’t do that now. 

Still, like I say…. if that’s all I have to worry about with Cowdens, I shouldn’t complain.

On the 23rd of May, I went to see Dr Donovan about the potential for bowel surgery. Due to the number of polyps that I have growing in my bowel, surgery to remove the bowel was suggested. So, me being me, did all the research. I read everything that I possibly could and talked to a few Cowdens patients that I’ve come to know who found themselves in a similar situation.

The surgery would be either a full Colectomy or a heme-colectomy potentially leaving me with a stoma. After much discussion of the pros and cons and side effects (of which there are many), it was decided that this surgery is not required at this time. Right now, it would be a preventative surgery, not a necessary one. I will revisit it when and if it becomes a necessary one.

This month has also seen the follow up to my hemithyroidectomy. The Dr is happy with everything, and my blood test indicated that there is no need for anything to be done. It was a follicular adenoma and was benign.

I have also had my Cowdens Syndrome 2nd year scans. Breast and kidney ultrasounds were done, and the results were nothing abnormal. A lipoma (so small I didn’t even feel it) but that’s it. Considered benign findings and see you in 12 months.  My thyroid scan was not required this year due to recent surgery and the fact that the Dr had seen it firsthand.

So, right this moment, all scanned. All clear. No worries. Enjoy life! Just a colonoscopy to look forward to in August/September. 

May 22

On the extra Cowdens post put out on the 4th May, I talked about the surgery I had for my thyroid. I thought that was my first ‘Cowdens’ surgery. Turns out it wasn’t.

Operation one – 2008 – I had a mass removed from the sacral cleft.

Operation two –2013 – ovaries and fallopian tubes removed.

Operation three – 2013 – uterus removed.

Operation four – 2014 – infected cyst drained and removed.

Operation five – 2023 – hemi-thyroidectomy.

It’s always scary when you look back at things like this. When I add in the other signs and symptoms that I face, it’s easy to see retrospectively that this has been going on for a long time.  I know in the future that I have a lot more tests/procedures coming.

  • Yearly kidney CT scans.
  • Yearly thyroid CT scans.
  • Yearly breast CT scans.
  • Yearly mammograms.
  • Yearly blood tests.
  • Colonoscopies -estimated 6-12 monthly for life.
  • Potential surgeries if/when scans show anything dodgy. 

I am seeing the colo-rectal surgeon tomorrow. I know that a potential bowel resection is on the table for discussion. I have researched the pros/cons and discussed it with my GP too. Whatever he says I have a huge decision to make, but what I must remember…it’s my decision and it is potentially life changing surgery. 


I thought that I would do an extra Cowdens Journey post this month, seeing as my journey took me to hospital. 

Last Friday (28th April) I had a semi-thyroidectomy. 

Since 2020, the Drs and endocrinologists had been monitoring a ‘lump’ that I had. Now the time had come around and it was surgical intervention time. I was admitted into Noosa Hospital and the operation performed the same day. I went home the morning after. 

My pre-operative bloods indicated that I was likely hypothyroidism pre-surgery, so the post surgical bloods will decide on whether ongoing thyroid treatment is required.  They also showed borderline red cell macrocytosis, which is enlarged red blood cells – something else that needs looking into!

The night after surgery was the most uncomfortable. Having to sleep upright to prevent swelling was difficult for me. Thats something I never do. I am a flat sleeper! I managed 3 nights upright(ish) and then settled back into my old comfortable position. In the week since the operation, these are the things I have noticed.  

  • My appetite has changed a bit. Not eating as much and taste slightly different.  
  • Dont feel the heat as much as I used to. I always felt the heat but now that has changed. 
  • Sore throat. 
  • Voice changes. I`m not singing soprano!!
  • Hard to swallow some foods. 
  • Tiredness. I am not someone that sleeps through the day but of a night….I am sleeping soundly now. 

So, that’s my thyroid story, well, until the post op follow up in June. It is then that I will find out whether the half they removed had any malignancies attached to it. There is an increased risk for thyroid cancer with Cowdens, but there is nothing I can do but wait and see. 


This month is all about the thyroid

The thyroid gland is a butterfly-shaped organ located in the base of your neck. It releases hormones that control metabolism—the way your body uses energy.

The thyroid’s hormones regulate vital body functions, including: breathing, heart rate, central and peripheral nervous systems, body weight, muscle strength, menstrual cycles, body temperature, cholesterol levels and so much more! It is the thermostat of your body.

So, my thyroid has multiple node’s which have caused a multi-nodal goitre. I have had three fine needle aspirations, all of which were inconclusive. Several scans and 2 years of monitoring, watch and wait. My final scan showed an increase that warranted surgery. I was on the list for category 2.

The symptoms I have been facing are:

  • Lump on my neck: After some time of feeling something was ‘not right’, the lump began to show and is permanently visible.
  • Cough: A sporadic cough evident due to nodules irritating the throat.
  • Swinging between tiredness and insomnia: Some nights managing only a few hours’ sleep, some nights having much more.
  • Heat intolerance: since my hysterectomy, I have suffered with heat intolerance. Maybe these nodules were growing back then?
  • Muscle aches: Sporadic aches and pains in limbs.

So, where we are at now? Well, after the endocrinologist visit, the decision was taken that surgery was needed. Now I have the date and by the end of the month, it will be done. Then it’s just the post-op recovery….

I thought long and hard about what I wanted this month’s Cowdens Journey blog to be about. I decided to go for simplicity. Here’s the question:

How does Cowdens Syndrome/Disease make me feel?

Considering I am at much higher risk of endometrial, kidney, bowel, breast, skin and thyroid cancer, I feel I have been quite lucky. I had endometrial cancer already back in 2013 so I can cross that off the ‘at risk’ list. That’s one less thing to worry about.

I’m about to have my thyroid removed and all indications are that it’s common nodules causing my goitre and nothing else. Fingers crossed! Still, no one likes to be in hospital overnight and have surgery but needs must.

I’m also meeting with a colorectal surgeon and am probably going to be looking at a five-day hospital stay and bowel surgery in the near future.

But as far as everything else goes, I have yearly scans and yearly mammograms now. That’s all I can do. When things are found, and they will be from time to time, I deal with them and move on.

When you’re living with a 1:200,000 rare disease, what other choices do you have? I have a life to live in between hospital visits and scans!

Cowdens is a serious and rare disorder, and for this month, I want to talk taboos. Let’s be honest, boobs and bowels are things that rank high on the old taboo list don’t they. There has been more activity in talking about bowels since we have had Adele Roberts and the late Dame Deborah James being incredibly open and honest about their health and situations, so now, it’s my turn to share.

I have just been through my 3rd colonoscopy in 12 months. Three. Trust me when I tell you that is not a typo. One colonoscopy is annoying. Two is frustrating. Three… downright draining, in every sense of the word.

The issue is, I have polyps. Lots of polyps. Now, you’re probably thinking, “define lots.” Put it this way, they stopped counting at 200. Scary huh. Every time I go, they cut more away and check for regrowth and potential tumours. The colonoscopy and the procedure they do, called a polypectomy leave me with a few days of bleeding and cramps.

So, where do I stand after my 3rd one. Here’s the latest. After the 3rd colonoscopy, I was handed the report and news that there were many still more polyps to be removed. I have been rebooked for another one in 6 months’ time. The Dr then said, “you’re lucky as most of your polyps are in one section of your bowel”. I wanted to grab his lapels and tell him that lucky isn’t quite the way I am feeling right now. He then added, “I am referring you to a bowel surgeon to discuss surgery to remove the affected area of your bowel.” My first question of course was, ‘does this mean I am going to have to have a colostomy?’  His reply ‘you shouldn’t do, but if there are any surgical issues, then quite possibly’. There it is. I’m staring down the barrel of major surgery.

As for boobs…. breast cancer is my biggest risk with Cowdens syndrome. Every year (June), I have ultrasound scans and every year in January, I have a mammogram. Every 6 months they are checked. I know lipomas are there. I know a cyst is there. They have been reported as benign findings. All I can do is be incredibly thankful that I get the 6 monthly review and keep my fingers crossed that I never have a malignancy.

So, I am waiting thyroid surgery. A bowel surgeon appointment, and now possibly bowel surgery too. 

Where do I start? Let’s start at the very beginning.

What is Cowdens?

Cowden’s Syndrome is a condition that is characterised by multiple growths (called hamartomas) on various parts of the body. It is defined as an inherited condition.

People with Cowden’s are at an increased risk of development of certain cancers. The cancers in question are breast, thyroid, endometrial, colorectal and kidney. Most of the cases, are caused by genetic alterations in the PTEN gene.

Cowden’s Syndrome is a rare condition that affects 1 in every 200,000 people. It is not curable, but it is manageable, using close monitoring, testing and liaison with GP and relevant consultants. 


There are many symptoms, covering many body systems. No two Cowden`s clients are ever the same. They all present differently.  These are the symptoms that I have. Some of these I have now. Some I have had since birth. Some are from my medical history. However, when they were all gathered, it was very clear to the geneticist that my diagnosis was the right one. From my point of view, my life medical history now made sense.

  • Goitre – Enlargement of the thyroid gland
  • Macules – Flat, discoloured area of the skin less than 1cm. These are on arms & legs.
  • Hamartomous Polyposis – Polyps in the gastro-intestinal tract.
  • Hemangioma – Benign tumours – mine are on my liver.
  • Macrocephaly – Increased head size.
  • Lipomas on kidney and breast.
  • Endometrial Carcinoma – Cancer (I was defined cancer free in 2017)
  • Seizures – This is a known issue for some Cowden`s. A cause for mine could never be established.
  • Ataxia – I have had balance issues for many years.
  • Depth Perception – I have always had depth perception issues, particularly on my left side. It was always put down to being related to my eye issues.
  • Mutation in the PTEN gene – Following two blood tests, it’s been found that I have the gene mutation.

Whats next?

So, with all the symptoms I have, as well as the potential risks that Cowden`s demonstrates, what is my medical plan? What is next?

Plan of action

In accordance with the GP, the Geneticist recommendations and myself, we have a course of action. This is a plan that we will start with. Dependant on whether the regular scans show anything, as well as how I am physically, will indicate whether that plan will change.

  • Colonoscopies every 6 months. 
  • Ultrasound of kidneys every year.
  • Referral to nephrologist (kidney specialist) if needed. 
  • Breast ultrasound yearly. 
  • Breast Mammogram every 2 years. 
  • Referral to breast surgeon to discuss surgery if needed proactively or preventatively. 
  • Thyroid scans every year. 
  • Review with endocrinologist as needed.

Hospitals, Radiology units, Geneticists, Consultants, and surgeons are going to be best friends for the rest of my life. I don’t like it, but it is what it is. That’s why I share my story. This is so rare that the support networks are not there for it. It is so rare that many consultants say, “what’s that?”

If by sharing my story, I can help one person, that’s a good thing.