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.
MAY
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.
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.
Symptoms
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.
