What is COWDEN’s Syndrome anyway? And why is beating it so important?
I am a full time mom, school teacher, and medical consultant. I am a post mastectomy, breast cancer survivor. I am also down a uterus and 2 ovaries since my diagnosis. I have a spleen that is questionable – but we are hanging onto that for now! I also work full time keeping my family of three as healthy as can be so what we have the strength we need to work on “beatingcowdens.” That’s a LOT of full time work, which is why I need LOTS of energy!
My daughter, now 10, is a delight. She does well is school, an when she’s not behaving as every preteen does on occasion, she is busy doing really well in school, reading, swimming, talking to friends, and generally being fun to be with. She unfortunately, or fortunately – I guess its a perspective thing – suffers with food allergies to gluten, dairy and soy.
While her medical history is complex and includes over 10 surgeries, the need to keep her on a pure, clean diet that developed when she was just a baby has likely contributed to the physical strength she has used to endure her challenges. Her restricted diet also caused my husband and I to reevaluate the foods in our home, and to clean up our own diets. Health benefits for all!
My daughter and I are the only ones medically diagnosed with this wretched syndrome that causes benign and malignant tumors all over the body, as well as all sorts of other mischief. My husband, although not diagnosed, also “suffers.” And while he is our biggest ally, our strongest cheerleader, and our best friend, he is also a stress eater.
About 2 years ago, during a stretch where there were 4 surgeries for my girl and I in a 5 month span – my hubby ballooned to his highest weight ever. After an introduction to nutritional cleansing, he lost over 50 pounds, dropped 2 medications, and has remained a much healthier version of himself.
Watching the benefits he experienced, and always looking for a new way to gain strength and energy, my daughter and I joined in on the nutritional cleansing, not for weight loss, but for health, and strength. The results have been amazing, and we have found a new, valuable tool to help us as we work on “beatingcowdens.”
Feel free to message me for information.
Thanks for reading!!
beatingcowdens 
Lori, Thank you for your Christmas letter. I am going to e mail you with some photos etc so I hope you still have the same e mail address. I have read your blog since I received your letter and have been thinking about you, Meghan and your family. I admire your sense of humour although I’m sure you aren’t laughing too often. What a difficult illness. I so miss NYC , some day my boy’s will have to see the zoo!
Lorraine (Thompson) Agass
So wonderful to hear from you! Looking forward to catching up!
My husband is currently in the process of being diagnosed with Cowdens after discovering that our son has a PTEN gene mutation (that he inherited from my husband) that has caused his Autism and developmental delay. Before investigations into my son began we had no idea that he had Cowdens as his symptoms are so mild. I look forward to reading your blog and learning more.
Welcome! We can all always learn a bit more. Looking forward to learning more about your family as well!
i dont know if you will see this anytime soon. but im book marking your page. i was diagnosed now 4 years ago by my doctor. i had blurry vision and double vision i couldnt stand up even. my doctor sent me straight for mri and they found a brian tumor near my brain stem. my doctor said she knew right away from type of tumor it was it was cowdens syndrome. they told me it was extremely rare and that not many cases have been recorded. the older doctor there a doctor hopkins told my doctor jody leonardo that hes only seen one case in his entire career and it happen to be my mother. what they found out threw my blurry vision and double vision i had a brain tumor blocking my way where brain fluid drains. They tried a experimental surgery because my mother had problems with a shunt something called a etv surgery where they made new passage way for my brain fluid to drain. she told me that would hopefully be it. Couple years later fastfoward july 2012, a cyst was found on my spine inside my neck. September 26th they took me in to remove 3 partial discs from my neck they had hopes the cyst would stay and support my spine. Well i found out not long ago my spine is falling extremely because the cyst had vanished dissolved i guess was there best answer and i have a fallen spine. Friday from what i understand i am due for admission again to buffalo general hospital in western ny, i will be under going saturday and sunday constant traction to hopefully re align my spine in my neck so they can do surgery if it doesnt work im told that they will have to re align my spine themselfs. The surgery will be them removing the last 3 half spinal discs possibly a forth and they have a case i guess they fill with a bone like material called it a fake bone and they will be removing the bad discs and fusing this new fake bone with a metal plate on each end to top of my spine and then my lower spine. hopefully this will be it. i also wanted to mention i do as well have a avm they called it behind my kneecap. it makes me feel good to know there r some people who exist who can know how i feel because they are battling the same thing. god bless you two i wish you both a wonderful healthy life and my doctor told me words id like to pass onto you when it gets hard realize the pain your going threw will inform the medical world with information and you might help some little child in the future you just dont know it yet.
I hope everything went well with your complex procedure. It sounds very painful. This syndrome is wretched and takes it out on each of us differently. Thanks for the words of encouragement. We are hoping to reach as many people as we can and raise awareness.
Hi Shawn,
Your message/comment came up when I was doing some research online for Cowden and lumerity duclos disease. I can definitely relate to your experience because four years ago is when I first diagnosed with an extremely rare brain tumor(lumerity duclos disease). I also had the etv surgery done at the University of Iowa.
Please also check out my blog at https://kaitlynslife101.wordpress.com
I have a 24-year-old son with Pervasive Developmental Disorder (on the autism spectrum) who lives at home with me in Maryland. He was diagnosed with CS a few years ago, after he survived testicular cancer and a tumor in his thyroid (turned out to be benign, but half of his thyroid had to be removed). Even though your situation must be incredibly stressful, it’s very fortunate that you discovered this condition early. I wish the best for both you and your daughter as you continue your journey toward good health with courage and humor. From my son’s perspective, you are living in the best city in the world; he loves theater, especially musicals! So maybe our paths will cross one day when we save up enough money to return to the big apple.
Thanks so much. We have mixed emotions about the city – but we have access to great hospitals. Stay well!
Hi Meghan I am thinking of you today and sending you my prayers. When we met at Mouse Gear you made such an impression on me and your strength has inspiring me greatly. I am glad I saw my picture with you.
Thank you so much. Meghan remembers you too!
I have been reading your blog this evening. I began researching Cowden’s yesterday. We have been waiting 2 1/2 months for my daughters Pten test results. I did no research during that time, but on Monday they called and said the results would be in on Tuesday (today) and to bring her in on Wednesday morning to discuss them. I think they already had the results, since when do labs call and say, “You should have those results tomorrow.” So I began reading, I don’t think we probably need the genetic tests. My daughter is 20, has fibrocystic breast disease, had one benign tumor removed and watching a second, had two thyroid tumors, had right thyroid removed. She had uterine abnormalities, had the uterus removed. Has had nevous skin moles, has a large head, intellectual disability, stomach polyps that are hyperplastic and a bunch of other weird stuff. I can tell we are the eve of another huge chapter in her medical life and I am glad I found this blog to help me along the way. Thanks for writing.
You will all be in my thoughts. It has certainly been a twisted road but I always take solace in the knowledge because it has led us to life saving detection. If you are on Facebook seek out the closed group “life with Cowdens” to request membership. And feel free to message me along the way. All the best!
What is the cause of your daughter’s chronic pain? My daughter has been suffering from pain in her sides and lower back for several weeks. The last 5 days have been severe. The docs are taking it seriously. She is having a CT this morning, had an ultrasound yesterday. The ultrasound didnt show anything. She has complex medical history but so far everything looks ok. Blood and urine are ok. Thanks. Erin
We are still not sure. The rheumatologist is perplexed, although Celebrex helps a lot. She was dx hypermobile joints. Goes to lots of PT, but really no answers about the pain. Does your daughter have Cowden’s? Hoping all the tests went well.
In 2009, I was diagnosed with CS – five years after surgery for a high grade breast cancer, and a year after surgery for pre-cancer of the uterus. I have a long history of chemical and food sensitivities and tests showed I had a high copper level as well as elevated levels of some other metals. I had chelation treatment in the form of supplements and Zeolite, but had to stop because of a severe reaction once the copper was mobilised. I felt very unwell and required a scan due to pain around my liver. Consequently, it was thought advisable to stop chelation. From my own research, I have suspicions that there may be a link between allergies/sensitivites and Cowden’s.
Really interesting. I wish there was more research. But apparently we have to do it all ourselves. Thanks for sharing.
Hi – thank you for sharing your story. I am humbled by your courage and perseverance.
May I ask a question? Do you and / or your daughter have the above average head size that go with CS?
Thank you.
Yes we both do!
hi – i have been reading your blog and i have a question for you if you dont mind. Prior to diagnosis, did you or your daughter have any of the physical attributes, such as the larger than average head size or warts on hands, etc.?
thank you.
Yes, we have several of the symptoms you mention.
Hi there,
I came across your blog when researching invisible illnesses. I have not come across Cowden’s Syndrome before but I would like to know more.
I have added a link for your blog to mine here if you are interested in taking a look http://ataleoftwomes.blogspot.co.uk/p/invisible-illnesses.html
I hope to be able to find the time to take a proper look though your blog at some point.
The Bipolar Kid
Glad you found your way to us. Good luck to you.
Hello,
I was recently diagnosed with Cowden’s after having ovarian, thyroid and colon cancer. My friend, my best friend who has been supporting me through all of the doctors – would like a “genetic disease ribbon” to show her support. I was wondering if you knew how to find one?
Thank you for your help.
Sorry I am so delayed in my reply. The Global Genes Project has been aiming to put it up for sale in their store. I am hoping it will come soon. The ones we have were made by a family friend who is a jeweler.
One has just started off down the ‘Cowden’s’ path-way. Perhaps if I had not mentioned it to my Dentist about suffering from bouts of dry mouth and an itchy tongue, I probably would never have found out that I have Cowden’s. For me, the whole experience has been quite surreal. I went to my doctor about an itchy tongue and he said it was in infection. I mentioned it in passing to my dentist and he sent me off to some doctor who wanted to cut a hole in my lip to test for Sjögren’s syndrome but wanted $500 for the privilege. Of course I said no, if I had Sjogren’s it wasn’t going to go away in a hurry so I got sent off to another Doctor on the public heath system who took one look and said we will test for this, that and the other thing but I would say you have Cowden’s. Three months later after the gene test, bob’s your aunty: diagnosis Cowden’s. All I could think of at the time was “Exsqueeze me?”. As I now wait to see more Doctors, the one thought that plagues me often is was the brain tumor that killed my father actually operable given that Cowden’s suffers can develop benign tumors?….
Sorry for the delay in reply. Hopefully you’ve found some more information. It’s a tough road alone. My blog is on facebook, you can message me through there if you need. All the best.
Hello,
It was lovely to read your blog about your girl. My names Avril I’m in the UK . I’m 22 now I had womb cancer at 20 thankfully youngest as I know off. Then I went on to great thyroid problems which was actually cancer I found out. I felt as if I was forgotton about a I was promised genetic testing following the womb problems. So I kept pushing and pushing and I had my first genetic appointment just before Christmas last year and I was told 26th Feb this year I had Cowdens. Big Head syndrome as I like to call it as I have a larger then normal head I just thought it I wasn’t meant to wear hats truthfully. I was ever so pleased I had an answer to cancer but it has now opened that never ending can of worms. Thankfully my elder sister hasn’t got this syndrome as she has a young girl , they will be testing my mum and dad next. I am currently suffering from the worlds worst headaches which are a burden as they don’t go away , I don’t trust the doctors as they dismissed my cancer to a lack of iron.
Truthfully now I feel worse now then I ever have done before, I don’t sleep I am in pain a lot of the time , If I lie still or try and drive I get pain from my hysterectomy. I have chosen to have my breasts removed to remove the chance of it coming and getting me there. I always new I was special with my Cowdens. Like I said I’m currently suffering with these headaches, even as I type. I’m ment to be doing my uni work but I’m falling asleep at the screen its 8.54pm. I get ever cold and cough going to now since cancer.
Was lovely to read your blog and to see all us amazing people have that fighting spirit.
Anyway, I’ll be leaving you i’m nodding off.
Much love to you and your girl
Avril
xx
So sorry I was so delayed to reply. DO you follow my blog on facebook? If so, message me through there. Its a road easier traveled with company.
Hello! Thank you for sharing your journey. We love the necklaces and was wondering if they are being sold anywhere?
We have tried for years to work with the Global Genes Project to sell a comparable necklace. If you really love them I can ask my jewler if he minds if I share his information with you. Are you in the states?
Yes we are definitely interested in seeing about getting one. That Would Be awesome! I am located in Texas.
Not sure the best way to get you contact information. Do you use facebook?
Yes I do have facebook.
Hi I am an Oncology Genetics Nurse and have been doing research in preparation for a presentation I will be giving to other oncology nurses in April 2016. My topic is on educating nurses to the physical characteristics that can help to identify individuals with several inherited cancer syndromes, hopefully, before they develop a cancer – and by recognizing these features, getting the individual to a genetics specialist for diagnosis. Cowden’s is one of the syndromes I will be focusing on.
I found your blog while doing my research and have just spent the last hour reading some of your postings and comments. I am amazed by the knowledge that you have gained and your experiences within the medical community, some good, some tragic. As a nurse, I feel your frustration in dealing with healthcare providers who don’t always take the time to expand their knowledge and understanding of genetic syndromes. I hope to change some of that lack of knowledge, one group of nurses at a time. I wondered if you would give me permission to share your blog site in my presentation and refer people to your story and your journey? There is nothing more powerful than the love and fighting spirit of a mother and survivor. I wish all the best to you and your daughter.
Thank you for taking the time to learn about a patient’s perspective! You can share anything you’d like. That’s why we are so passionate in telling an honest thorough story. It is so hard to watch medical professionals “Google” the same pages I’ve read hundreds of times. May you be successful in your endeavors.
I am part of a children’s charity based in Staten Island called Five Fathers Children’s Charity. I wanted to inquire if your family can use financial assistance. If so, please email me, anthony@fivefathers.org, and check out our website, http://www.fivefathers.org. Best. Anthony
Thank you for reaching out. We are doing ok financially at this point. I will keep you in mind in case I hear fo any locals in need. I read your work. Glad to hear of such good people. The world needs great Dads. We’re do glad to have one in this house!
Hi there, my name is Kaitlyn and I came across your blog a few different ways. I wanted to leave a reply because the more and more I read your blog post. I was like – wow I can definitely relate through my own medical history.
Please also check/follow my blog.
Thank you! I will definitely check it out!
Thanks for respond back. I am in the process of getting tested for the Cowden syndrome/PTEN because 4 years ago I was diagnosed the rare brain tumor lumerity duclos disease. Then this past year February 23,2015 I finally had the same tumor removed because it grew.
Hi Lori,
I am a researcher at the University of Edinburgh, and I would like to use bits of your blog in some research I am conducting about people’s experiences of living with hereditary cancer syndrome. I have learned a lot about Cowden’s syndrome through reading your blog, and I can see that it is an important source of support for others.
Do contact me for more information if you would like to hear about the research I’m doing (Emily.ross@ed.ac.uk).
I wish you and Meghan well, all the best from Emily Ross
I might have a PTEN disorder; I can’t afford to pay for genetic testing to confirm it, but I have macrocephaly and am on my second thyroid tumor, and two first cousins have died of breast cancer. I also have a prominent bone tumor on my ribs and some kind of malformation growing on my left inner jugular vein, not to mention the dozens of mystery growths (three different types) on the skin all over my body.
I constantly use Google to search for information since my GP knows nothing about PTEN disorders, and my two check-ups a year are all the medical attention I get.
I am literally falling apart at the seams, with constant injuries which feel like broken bones or severe sprains, but I can’t afford to get the injuries checked out. I do know I also have severe osteoporosis (L1 “T” score of -3.3, which is off the charts bad.) I don’t know if the osteoporosis is caused by the same genetic disorder causing my tumors all over, or by my enlarged thyroid, or just simply doubly bad genetic luck, but I am constantly breaking wrists, thumbs and ribs.
I constantly see your website come up in my search results, I sympathize with your problems and have very little to contribute, but in my search this morning I stumbled upon your mention of carnitine, and a mention of muscle cramps.
Since I was a teenager I have suffered from muscle cramps so bad they were debilitating. I would have to go to school, and as an adult to work, with my head locked sideways by painful neck cramps that lasted for days. If I dared “stretch” my legs when I woke in the morning, They would cramp so bad and do so much damage I would be left limping for days afterward. I went to doctors who had no explanation or cure besides prescribing powerful muscle relaxants. I tried a chiropractor who informed me I had scoliosis and nearly every bone in my neck showed signs of fractures, but he had no solutions. I also tried quinine pills with no luck.
I also have issues with startle seizures, which again the medical community had no explanation for and no pharmaceutical help besides an anti-seizure medicine (Levetiracetam) which is minimal help, and an anti-adrenaline medicine (an alpha and beta blocker called Carvedilol) which at least keeps me from meltdowns caused by the adrenaline surge after a startle.
While researching the startles, which most severely impact my quality of life, I stumbled onto research in startles in Zebrafish, which led to a mention of Cowden’s. When I studied Cowden’s, and other PTEN disorders, I realized I was born matching the symptoms of BRRS, right down to the characteristic macules. When I researched BRRS, I noted that doctors had found some of the children had low carnitine and muscle problems. I thought maybe I should look into carnitine. When I was researching safe and appropriate doses of L-Carnitine for adult men, I stumbled onto a research study of Chinese men which claimed high doses of L-Carnitine (4 grams a day) cured osteoporosis. Well, since I have off the chart bad osteoporosis, and L-Carnitine is a non-prescription supplement, I figured it couldn’t hurt to try it to see if it helped my osteoporosis.
Immediately after taking L-Carnitine I stopped having chronic muscle cramps. To say I was thrilled is an understatement. My son and brother started taking it, and they got immediate relief of their muscle cramps.
L-Carnitine has had no effect on my startle seizures, they are just as bad as ever, but seizures which used to break my thumbs now only sprain my thumbs, which is actually quite an improvement; I think my bones are actually getting stronger, in fact, I haven’t had a broken bone (thumb or rib) from a startle seizure since I started taking L-Carnitine a year ago (I must confess to breaking a wrist, but that wasn’t from the intensity of the seizure, it was from the seizure causing a fall.)
If you do decide to buy L-Carnitine in large quantities for the rest of your life, don’t buy it at your local pharmacy or health store; with a little hunting you can find it online for drastically less cost, which is important if you don’t have prescription coverage. Good luck!
Thank you for all of that. I appreciate your insight. We do become our own best help. There are communities of us, on facebook, and on yahoo, and building on Twitter. There is also ptenworld.com Please find others. No one can cure it, but it makes the road somewhat more bearable. All the best.
Hi I read your comment with interest. You don’t indicate where you live geographically but I would encourage you to seek counseling with a genetics provider. There are many Genetic Counselors and Genetic Nurses across the United States – they can assist you with obtaining the required genetic testing to confirm your diagnosis. If you have no insurance, many of the companies will provide testing for free as the benefits of knowing definitively can provide you with access and justification for many life saving surveillance and interventions. There are many companies that now provide testing and the cost of testing if you need to pay out of pocket is very variable – a qualified genetics professional can assist you in finding these resources. If you live in the US, you can go to the website for the National Society of Genetics Counselors and enter your city and state and it will help to locate a genetic counselor in your region.