I was diagnosed with Cowdens. Please reply if you have Cowdens and let me know the treatment you have had. I have had multiple AVMs and multiple problems with Cowdens so i would be interested to see whether anyone else has had similar problems.
Hi lesly
I also have 3 avm’s and just recently diagnosed with cowden. I havent got any cancers yet but have had alot of polyps and cysts and my thyroid removed. What has having cowdens been like for you? The drs where i live most of them have never even heard of cowdens but the genetic counselor told me just to make a schedule of routine tests to have done… is that what the drs have u do ? Thanks april
Very few Drs have heard of Cowdens. Throughout the last twenty years since I was diagnosed I have seen many specialists. You will need to see a gastroenterologist to have a colonoscopy and an endoscopy if you haven't had those already. You will also need to see a dermatologist for the harmatomas on your skin. The other specialists you will need to see are an endocronologist and a gynaecologist. The last one should actually be referred to, as it is one of the first main symptoms, breast cancer. I have yearly tests with these plus now I have avms as well I see a Vascular surgeon. My husband and I are used to the yearly round of tests as it has been going on for a long time. I have had two mastectomies- twenty years apart. I have also had two thyroidectomies twenty years apart because twenty years ago the thyroid was never completely removed. I have had about twenty five different operations. They have all been necessary as the only way that Cowdens can be treated and cancers eliminated from certain areas is by surgery. Unfortunately you and I were born with the mutation and there is nothing we can do about it except live with it.
For years I have decided that okay I have Cowdens but it is not going to beat me. I do what I can when I can.
At present my worst problem is the avms as they are in my right foot and I have been advised not to drive. As they are diffuse I have had schlerotherapy injections but I have been told that when it get worse I will have to have part of the foot amputated. I live with that every day but I try very hard not to be down about it. I have done many things and been many places in the world that some people will never do or see. I know I have lived life to the full and I am going to continue to do that for as long as I can. Try and look on the good side. I know it is hard and I know that you will feel like crying every day. Have your cry but pick yourself up and dust yourself off and say here I am world and you have to put up with me a bit longer. Teach the drs about Cowdens. I always do. Don't ever let them intimidate you. You know your body. You tell them where the problems are.
Hope I have helped by being honest.
Hello Lesley
wow thank you so much for sharing .. what's so crazy is I also have an AVM at the bottom of my leg and was told it is to large to do any thing with that eventually I may face amputation. What kind of Dr administers those shots to you ? Have they helped much ? I just went thru my first embolization for a brain AVM. I'm so thankful it went pretty well. After I read your response I went straight to my primary care and requested referrals to all those specialists. I asked the genetic counselor and other Dr's this question but no one seems to know the answer. I have cysts now in both of my breasts. I was wondering if its new cysts that turn malignant or is it cysts that they say now are ok and harmless that turn malignant eventually. I want to see about having these current cysts removed but they tell me there harmless so don't worry , but with having cowden I don't think anyone understands. I have yet to find a DR that didn't go huh whats cowden so taking there advice is difficult. If you don't mind me asking what age did cancer first come to you? I just turned 34.
Thank you again Lesley for sharing your experience's. I hope that you are well take care
April
I have just had a six monthly checkup and have had a cyst removed from one of the breasts even though I have a prosthesis. My drs are really careful with me as yes some of my cysts when left could turn. they should be biopsied as my cyst was. Secondly the dr who does the schlerotherapy needles must be an interventional radiologist. I first had the cancer at twenty but all I needed then was a lumpectomy. At 42 i had the first mastectomy and at 62 I had the second. Get everything checked. I did and I do now. That is why at 63 I am still here. All the best.
Lesley
Hi
My husband is currently waiting on genetic test results for numerous genetic causes of his health problems, the main things they are looking at are either Cowdens or Familial Adenamatous Polyposis(FAP) but are testing for other things too. He has an avm on his foot, has had lipomas appear on his body the most recent on his ankle called a nerve sheath tumour. He had one half of his thyroid removed last year due to a nodule the size of a cricket ball and he is now going to have the other side removed due to the growths on that side growing too and causing obstruction. He has sleep apnea caused by growths/cobblestoning in his throat. He also had hundreds of polyps on his bowel, some are already risky so he is having an ileostomy when we get the test results. No-one had suggested that the avm could be related to everything else. My husbands side of thefamily has a history of male and female breast cancer and bowel cancer.
Hello Liam
Yes avm’s are very commons with cowden syndrome. Also with all the polyps. Many Drs are not familiar with cowdens so they do not know this
Ok even before you find out ask if you can have your children tested. Do you know the other symptoms of Cowdens? Does your husband have a large head? Does he have a scrotal tongue? The latter means that his tongue is tethered underneath.Also the other symptom is a very high palate. Does he have small growths on his hands and arms and legs and feet? They look like warts but they are related to the Cowdens. Look up symptoms of Cowdens. I have every symptom except one but I have also had genetic testing. the one I haven't got is Intellectual Disability and it sounds like your husband doesn't have that.
April is right there are very few doctors who know about Cowdens. The state that I live in has only 19 people with Cowdens so as you can imagine there are very few doctors who know about it.
I have not long turned 65 and I am still here and intend to be here for quite a bit longer. My head size is 63cm so as you can see it is a very large head. Don't wear hats very often as I am not able to get many that will fit.
Thank you so much for replying Lesly and April, it wasn't till after I posted that I noticed the original post was two years old.
My husband is 43 and we are in the UK, he has always had random growths the doctors have removed some that are impeding his life but others have been left. They have been on hands,arms and legs and he has one on his back also. He also has some little indentations on the palms of his hands that looking online can be sign of cowdens. He does have a large head, he cannot get hats to fit, the genetecist did measure it and plotted it and agreed. I have seen several pictures related to cowdens that show people with lumpy/pitted noses that look exactly like my husbands. He also has funny markings on his gums, the dentists asked for advice as she had no idea what it is but no-one does! I don't think he has a scrotal tongue or high palate. However we have three children, our eldest is 10 does have an intellectual disability, he has a large head, high palate and has started to get some growths on his arm. Our two daughters have normal intellect, average head size and no other signs.
It was the colorectal surgeon that first suggested something genetic and he though FAP as he was focused on the bowel, plus think that was all he was aware of because ofhis speciality. Since we have seen the geneticist and he mentioned several possibilities, my husband is convinced it is cowdens. However reading online some say that bowel polyps are related and others don't mention it at all.
He had his genetic testing in April and we were told 4-5 months for the results so should be August or September hopefully. They won't begin testing the children until we know exactly what it is.
The one thing that I did not mention is that Cowdens is autosomal dominant. This means that if your girls do not have it then they cannot pass it on to their children. Your husband sounds like he might have it. I have marks on my gums and also have a pitted nose. Hope that reassures you about some things. Tell your husband that he can always ask questions and tell him that if he does have it he will have to educate some of the doctors as very few know about it.
Thank you. I just showed him these messages and he told me he does have a high palate, when he had braces and they took moulds they commented about how high it was, I didn’t know! Looks like his results are back got a letter this morning for an appointment with the geneticist in August so will update when we have seen him. May need more advice of confirmed with three children needing testing too.
UPDATE: we have just had confirmation today that my husband does have Cowdens, the geneticist said that he had never heard of a link between AVMs and Cowdens! But he did reitterate that they are adding new things all the time. So next on the list of things to do is a kidney scan, another colonscopy and rest of thyroid removed. The geneticist is pretty certain our son probably has it, he has had testing before but not for pten, so they are going to retest for that and we will get results in 3-4 weeks. He suggested waiting till our daughters were 10 to be tested but think we are going to push to have them tested now (age 7 and 5). We are looking forward to educating doctors, we are used to that already though with the AVM!