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.
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.