DECEMBER
Cowdens – End of Year Thoughts
As I end year 3 since diagnosis, I don’t dare add up all the tests and surgeries I’ve had, since my diagnosis of Cowdens Syndrome. I think the number might scare me. Ok, I did add them up. I could not help myself. 17 tests and 8 surgical interventions.
From scans to mammograms. From benign lumps removed through to thyroidectomy. There have been a few things. While I have had to have things done, I have also been incredibly lucky in that I have no malignancy showing. All I can hope is that this good news continues.
Mammograms 4
Ultrasounds 10
Colonoscopies 5
Thyroid surgery 1
Removal of lumps 2
Fine needle aspirations thyroid 3
NOVEMBER
It’s not the years you have, it’s what you do with them that counts.
From the moment we are born, the one certainty in life is that one day, we will die. It may sound bleak, but its the undeniable truth of existence. We cannot escape it or outrun it—it is not a matter of ‘if’ but ‘when.’ So, what do we do in the face of this inevitable reality?
For those of us living with a genetic condition like Cowden syndrome, which significantly heightens the risk of cancer, this question feels even more urgent. The statistics aren’t in my favour: a 10% chance of kidney cancer (compared to the average 1.4%), a 15% chance of bowel cancer (as opposed to 4%), a 12% chance of skin cancer (while most face just 3%), a 40% chance of thyroid cancer (the norm is 2%), a 30% chance of endometrial cancer (up from 3%), and a staggering 80% chance of breast cancer (compared to 14% for most women).
Faced with these odds, I have two choices: I can let fear consume me, or I can stay vigilant with regular check-ups—mammograms in January, ultrasounds in June, colonoscopies in September—and live my life to the fullest.
So, how do I choose to live? Spoiler alert: I opt for the latter. I get on with life. While I cannot control the hand I have been dealt, I can control how I play it. So, I keep up with my scans, and if something ugly turns up, I deal with it head-on.
I spend my time traveling, attending concerts, watching my favorite NRL team play, and sharing moments with friends and family. But I am just as content curling up with a good book on the sofa.
The point I’m trying to make is simple: do something with your life. At 47, I changed careers and became a writer. The pay is lousy, and the work is very sporadic, but I don’t care. Writing is my passion, and whether it brings in $1 or $1,000, it makes me happy.
That’s what I want the years I have left in life to be, however many there are—happy
OCTOBER
Scars:- “The Roadmap of your Life, of who you are.”
Scars mark the intersection between vulnerability and resilience, etching stories onto our bodies that words sometimes struggle to convey. They are not just physical remnants but narratives of survival, each scar a testament to a moment of impact, whether from a surgeon’s scalpel or life’s unforeseen blows.
Physically, scars vary—some faint lines barely noticeable, others jagged reminders demanding attention. Yet, their significance transcends the surface. They carry histories of accidents, surgeries, battles fought and won against illness or injury. Each scar tells a tale.
Emotionally, scars are imprints of experiences that shape our identities. They are reminders of moments etched deeply into memory—times when we faced adversity and appeared changed. A scar might recall a childhood mishap, a daring adventure, or a poignant loss. It becomes a symbol, not just of pain endured, but of the strength discovered in overcoming it.
Metaphorically, they also embody resilience. They are badges of courage, proof that wounds can heal, and adversity can be overcome. Scars teach us that healing is not just about restoration but about transformation—our vulnerabilities become sources of strength, our wounds markers of survival.
Yet, scars are also tender. They remind us of our mortality, of the fragility and impermanence of our bodies. They prompt introspection, inviting us to reflect on the journeys that have left us marked, both physically and emotionally. In their presence, we confront our stories—our triumphs and tribulations laid bare, etched into the very fabric of our being.
Scars connect us, too. They are universal symbols of the human experience, transcending language and culture. They tell stories of resilience that resonate across borders, reminding us of our shared capacity for healing and growth. In their diversity, scars unite us in our humanity, reminding us that behind every scar lies a unique narrative waiting to be heard and understood.
For Cowdens Syndrome warriors, a scar is the remnant of a surgery; a procedure that was a necessity as a life saving measure, or a preventative surgery that was required due to a risk of deadly disease. Here’s the thing for me. I don’t care about scars. They’re me. They are who I am. A scar in my head labels the mole removed. The scar on my arm was a keloid scar that needed removing. My stomach scars, although faded now, are the remnants of a life saving (although I didn’t know that at the time) preventative hysterectomy. A scar on my cheek is the remnant of a cyst that became infected. But scars have never bothered me. They’re who I am. They make me the person I am and tell a story.
Scars are not just remnants of wounds but reflections of our ability to endure and thrive. They symbolise the complexities of life—the moments of pain that shape us, the resilience that defines us, and the stories that connect us all. In embracing our scars, we embrace our journeys, honouring the narratives that have shaped us and celebrating the beauty of our imperfect, resilient selves.
SEPTEMBER
Skin
Cowden syndrome, also known as multiple hamartoma syndrome, is a genetic disorder characterised by the growth of noncancerous tumours called hamartomas in various parts of the body. One of the prominent features of Cowden syndrome is the presence of certain skin abnormalities. Here are some of the skin manifestations commonly associated with Cowden syndrome:
- Trichilemmomas: These are benign tumours that typically occur on the skin around the face, particularly the nose, mouth, and eyelids. They appear as small, wart-like growths.
- Facial Papules: These are small, raised bumps on the skin, often found on the face.
- Acral Keratoses: Rough, wart-like growths on the palms of the hands and soles of the feet.
- Palmoplantar Keratosis: Thickened, rough patches on the palms of the hands and soles of the feet.
- Lipomas: These are benign fatty tumours that can occur under the skin.
- Mucocutaneous Lesions: These include benign tumours or growths in the mucous membranes of the mouth and genital area.
It is important to note that the skin manifestations can vary widely among individuals with Cowden syndrome, and not everyone will have all these features. As for me, I have had a lipoma removed from my arm and a lump removed from the top of my head. I also have skin papules that are evident on legs, arms, face, hands, and feet. What can I do about it? If they are problematic in any way, I get them removed. If they’re not, I live with them. In all likelihood, I have lived with cowdens for 50 years before I was diagnosed so better to get on with life and enjoy it!
AUGUST
Colonoscopy 5
Do I call this one ‘Return of the Polyp?’ or ‘Backed Up?’ Any other good sequel names out there? I have to laugh when it comes to colonoscopies as I am about to undergo number 5 in just over 2 years.
I’ve had the ‘please fill in the medical history’ form and now I am waiting for a date. I’ve agreed to take a last-minute cancellation if one comes up, as long as the date works for me, and I have time to do the prep!
Ah, the prep. There’s a misconception about this prep so let me set the record straight. The prep actually isn’t that bad. I have an orange flavoured one and it tastes ok. The big issue is the sheer volume of liquid in a short space of time. Now I’m a girl who can make a 330ml can of Diet Coke last for hours. This 1.5litre of prep has to be drunk in 2 hours, and then same again the next day.
So, now it’s just wait for the date
Note to self: I learned something last time. Lemon sorbet ice cream counts as clear fluids. That basically gives me carte blanche for a tub and spoon!!! Hahahah.
JULY
How to live with risks
There are many risks with a Cowdens sufferer. The main one of course being cancer. Every time a Cowdens patient has a medical test, has a lump removed, there is that inexplicable wait, that dread of what’s coming. Is it benign? Is it malignant? How do I manage my risk? Well…. firstly, I don’t stress over things I can’t control. I have Cowdens, the risk is there, and I can’t control it. All I can do is “manage” it as safely as I can. I manage my risks with scans.
The biggest potential issue for me is breast cancer. My management plan for this is simple. Regular checks as every woman does herself. I have a yearly mammogram every January and I have scans every June. Every six months, potential breast cancer is looked for. My theory is, on that schedule it should be picked up early. Is it scary? Yes. I’ve had a callback from BreastScreen Queensland in 2024 regarding a potential issue (thankfully it was a benign lipoma)
I have a yearly colonoscopy which looks at the polyps that grow in my bowel. I’m not kidding when I say I have hundreds of them. It’s been suggested that I have bowel surgery, but I have declined that. I have yearly scans on all the other high-risk cancers.
I worked out last night that since January 2022 I have had –
1 genetics appointment, 1 genetics blood test, 5 colonoscopies, 3 scans on breasts, 3 scans on kidneys, 3 scans on thyroid, 3 mammograms, 1 callback to BreastScreen Qld, 2 Fine Needle Aspirations on thyroid and 1 thyroid surgery.
I think that’s enough for now…. don’t you think?
JUNE
Medical Rarity: Year 3 Cowdens Scans
Every year for Cowdens I have to have tests. January is mammogram. June is ultrasound and September is colonoscopy. Whoever said life wasn’t fun eh! The mammogram was done in January, and I discussed this last month. (Scroll down to May`s entry)
Well, last month I had my yearly Cowdens scans. Ultrasounds of breast, thyroid and kidney. Call it women’s intuition but I had a feeling about what was coming.
- The breast scan showed a small cyst that had grown by 1mm over the year. There was also a lipoma which was deemed benign.
- The kidney scan showed up some cortical scarring. This means I am prone to infections and the nurse in me is now regularly monitoring for this.
- The thyroid scan showed a multi nodal goitre on the left side which indicates surgery is required. Here we go again. The right side was removed in 2023 and now I am heading towards a removal of the left side. The surgeon has declined to do it this year as I am asymptomatic and the goitre is not visible. If symptoms begin, that may change. There is a risk that the polyps on the thyroid are malignant but that risk is 5% only.
So, all in all not the best result but I’m still here, alive and breathing.
MAY
Medical Rarity: The Biggest Risk of all
The breast cancer risk for an average woman is 12%. It is estimated that a lifetime risk for a woman with CS to get breast cancer is 50-85%. Quite high odds right there. It’s our biggest risk. So, although a shock, in some ways it was not a surprise when I had a mammogram call back earlier this year.
Every dr manages the Cowdens risk differently, they all have their own guidelines, but I have the following schedule that I organised for myself. Every January I have a mammogram and every June I have ultrasounds. That way my breasts get thoroughly checked every 6 months. I had the January 2024 mammogram and just under 4 weeks later, a phone call from BreastScreen Qld came inviting me back as they had spotted “irregularities”.
It should be noted that irregularities can be anything from a cyst, a lump, cancer or simply a dodgy scan. I got the call telling me of my ‘irregularities” on the Thursday and on the Friday morning I went back for my follow up check.
Thankfully mine turned out to be nothing to worry about but the fact that BreastScreen Queensland were so quick off the mark with follow ups boosted my confidence. My 6 monthly checks will continue, and I will deal with something when or if it rises up. Breast cancer may never rear its ugly head with me, but 6 monthly checks will ensure it’s caught early if it does. That’s all I can do.
APRIL
Medical Rarity: Thyroid – one year on
On April 28th it will be one year since I had 1/2 my thyroid removed. However, it started long before that. In October of 2020, I noticed a lump in my neck. Just small at the time, but enough to make me have an issue with swallowing. Off I went to the GP. Three fine needle aspirations later, all with “inconclusive” results, lead to a ‘watch and wait’ plan.
I was then sent to an endocrinologist who made the decision that the thyroid needed removing, he wanted it all out. I was then sent to the surgeon who disagreed with him and said, “I’m only removing the dodgy half.” April 28th, 2023, I was in Noosa Private Hospital having a hemi-thyroidectomy. Once done and dusted there were a few aftereffects.
- I had to sleep sitting up for 5 days to allow swelling to go down. (I’m a flat sleeper so that wasn’t easy!)
- I had the mother of sore throats that seemed to last months.
- I had a tickly cough that lasted a while.
- The pitch of my voice had changed and took almost 12 months to return to what I considered normal. Let’s just say I went from singing Kate Bush high pitches to being more a Mark Knopfler low tones kinda girl!
But 12 months on, here I am. I still have 1/2 a thyroid so there was no need for thyroxine. My scar was beautiful done (Thank you Dr Donovan) and my thyroid levels are perfect. I’ve been signed off by the endocrinologist and have my regular thyroid ultrasound every year.
MARCH
Medical Rarity: Endometrial Cancer
Although I never knew it at the time, my first interaction with Cowden’s syndrome was a 2013 diagnosis of endometrial cancer. Here’s what happened.
Back in 2006, my paternal nan passed away from ovarian cancer. Then, her daughter found that she had ovarian cancer and breast cancer. Sadly, we lost her too. Due to the fact that there were 2 generations with ovarian cancer, it was time to make some choices. The next generation was 7 grandsons and me, the only one with ovaries in that generation! So, I made the conscious decision to have my ovaries removed, to take away the risk.
During that surgery, a routine uterine biopsy/scraping was completed, and it was found to be positive for endometrial cancer. I’d had no symptoms. This preventative surgery had ended up locating something. I then needed a full hysterectomy. Luckily the cancer was found at stage 1. I routinely underwent checks with the oncologist while in remission and four years later I was officially declared cancer-free.
That was (unbeknownst to me) my first interaction with a Cowden’s syndrome cancer.
FEBRUARY
Medical Rarity: Cowdens and me
While last month I examined what Cowdens Syndrome is, this month I am going to overlay those symptoms onto my health and tell you what ones I am dealing with.
Some may say this is personal information to share but with the rarity of cowdens being what it is, if I can help one person by sharing…then it’s a job done.
- Thyroid – The first issue I noted was a lump in my throat. This wasn’t related to cowdens at the beginning as I hadn’t been diagnosed. I had three fine needle aspirations to see what was going on. All were inconclusive. A decision was made to ‘watch and wait’. Eventually the lump grew and became a goitre. I had issues swallowing and found I had a long-term cough from trying to constantly clear my throat. I was referred to an endocrinologist who suggested a full thyroidectomy. My surgeon said no and did a hemi-thyroidectomy. He didn’t see the point in removing the healthy half. What was removed was benign (non-cancerous)
- Gastroenterological symptoms – In January 2022 it was discovered I had blood in the bowels. I’d had no symptoms. My first colonoscopy in March of 2022 showed I had polyps in the hundreds. Since then, I have had 4 more colonoscopies, all clearing out about 100 polyps at a time. I have seen a gastro surgeon on recommendation for removal of my entire bowel. However, it is a life changing surgery that does not negate the cancer risk, so I have said no at this time. Every polyp that’s been removed so far has been benign.
- Skin Manifestations: I can add in keloid scars, white lumps and bumps on hands, face, legs and feet. A few skin bumps have been removed. All benign.
- Large Head – Ever since I was a child, I have had a large head. No hats would fit me. My mum had to cut the neckline of jumpers to get them over my head. Now I know why. It’s a classic Cowdens sign. An average female head is 57cm. Mine is bigger….by 6cm.
- Breast Abnormalities – Focal benign echogenic lesions noted (lipoma) as well as coarse calcifications. A small cyst and intramammary lipomas noted. That’s my checklist here or so I thought….I was called back after a mammogram. The first time that this has happened and very scary. As a nurse, it’s worse. We know more. While they found nothing new, it was a potential breast cancer scare that I didn’t need.
- Kidney abnormalities possible echogenic focus in (r) kidney- cortisol scar or AML
- Liver – Hemangioma in liver. Noted to be benign in nature.
- Endometrial cancer – malignancy Diagnosed 2013, and cancer free since 2017.
- Genetics – Cowden syndrome is primarily caused by mutations in the PTEN gene, located on chromosome 10. Following testing, it was shown I have that mutation.
I’ve been asked if I would have preventative surgeries. For example: bowel surgery, mastectomy etc. my answer is always no. With cowdens I do have a higher chance of having breast cancer at some stage in my life, but lopping off healthy tissue comes with its own risks. This is my Cowden Syndrome story of symptoms. Every January and June I have scans and every August I have a colonoscopy. It’s a fun life.
JANUARY
Medical Rarity: What is Cowdens disease?
Cowden syndrome is a rare genetic disorder characterised by the development of multiple noncancerous, tumour-like growths called hamartomas. This condition is primarily caused by mutations in the PTEN gene, which plays a crucial role in regulating cell growth and division. Cowden syndrome is also classified as a type of PTEN hamartoma tumour syndrome (PHTS), a group of disorders that share a common genetic basis.
Clinical Features:
One of the hallmark features of Cowden syndrome is the presence of multiple hamartomas, which can affect various organs, including the skin, mucous membranes, gastrointestinal tract, thyroid, breast, and central nervous system. These hamartomas are usually noncancerous, but their growth and presence can cause significant medical problems and complications.
Skin Manifestations:
Individuals with Cowden syndrome frequently exhibit skin abnormalities. These can include trichilemmomas, which are small, benign tumours arising from the outer root sheath of hair follicles. Other skin findings may include papillomatous papules, acral keratoses, and lipomas.
Oral and Mucosal Manifestations:
Mucosal lesions are also common in Cowden syndrome and may involve the oral cavity, gastrointestinal tract, and genitourinary system. Papillomatous papules, mucosal neuromas, and benign tumours may be observed in these areas.
Breast Abnormalities:
Women with Cowden syndrome have an increased risk of developing breast cancer. The presence of breast hamartomas, fibrocystic changes, and other breast abnormalities may necessitate careful monitoring and early intervention.
Thyroid Abnormalities:
Thyroid disorders are prevalent in Cowden syndrome, with an elevated risk of thyroid cancer. Thyroid nodules and goiter are common findings, and regular thyroid surveillance is recommended for individuals with this syndrome.
Gastrointestinal Involvement:
Hamartomatous polyps in the gastrointestinal tract, particularly the colon and small intestine, may occur in Cowden syndrome. Regular colonoscopies and gastrointestinal screenings are essential for early detection and management.
Central Nervous System Involvement:
While less common, Cowden syndrome can involve the central nervous system, leading to conditions such as Lhermitte-Duclos disease, which is characterised by hamartomatous growths in the cerebellum.
Genetics:
Cowden syndrome is primarily caused by mutations in the PTEN gene, located on chromosome 10. The PTEN gene encodes a protein that acts as a tumour suppressor, helping to regulate cell division and prevent the formation of tumours. When mutations occur in this gene, the normal control over cell growth is disrupted, leading to the development of hamartomas.
Cowden syndrome follows an autosomal dominant inheritance pattern, meaning that an individual only needs to inherit one copy of the mutated gene from either parent to be affected. In some cases, the mutation may occur spontaneously, without being inherited.
Diagnosis and Management:
Diagnosing Cowden syndrome involves a combination of clinical evaluation, genetic testing, and imaging studies. The presence of characteristic features, such as skin and mucosal lesions, along with a family history of the syndrome, may prompt further investigation. Genetic testing, specifically for mutations in the PTEN gene, is a key component of the diagnostic process. Once a diagnosis is confirmed, a comprehensive management plan is essential to address the diverse manifestations of the syndrome.
Medical Surveillance:
Regular surveillance is crucial for individuals with Cowden syndrome to detect and manage potential complications early. This may include dermatologic examinations, thyroid ultrasounds, breast imaging, and gastrointestinal screenings.
Preventive Measures:
Given the increased risk of certain cancers, preventive measures such as prophylactic mastectomy, bowel surgery and thyroidectomy may be considered in some cases. However, these decisions are highly individualised and require careful consideration of the patient’s overall health and preferences.
To conclude, Cowden syndrome is a rare and complex genetic disorder with a range of clinical manifestations affecting multiple organ systems. Advances in genetic testing have improved our ability to diagnose this condition, allowing for early intervention and medical surveillance.
While there is currently no cure for Cowden syndrome, a multidisciplinary approach involving dermatologists, geneticists, oncologists, and other specialists can help manage the diverse aspects of this syndrome and improve the quality of life for affected individuals.
