After being diagnosed and treated for thyroid cancer at 13, I gained a diagnosis with Cowden Syndrome at 14. Suddenly, everything made sense. The small bumps on my hands and feet that didn’t respond to wart treatment, my macrocephaly, the lipomas and fibroids that seemed to be growing everywhere, it all tied together. I also have problems with ADD and dyscalculia, and developmental delay as a toddler. Now, at 15 years old, I’m experiencing neurological symptoms that are Cowden’s related. Emotionally, this diagnosis has been hard, but I’m still fighting 🙂
Cheyenne experienced benign tumors starting at age 7. They would develop in her knee and leg, grow, and she would have them removed. At age 14 the lumps showed up in her breast, and every six months she underwent a procedure to remove them. After the seventh procedure, her doctor realized something was wrong. Cheyenne tried hormones, birth control, a no caffeine diet, and nothing seemed to work. Cheyenne was fortunate that she had a genetic specialist that was familiar with PTEN mutations and her specialist conferred with her colleagues about Cheyenne’s symptoms. The team agreed that Cheyenne might have a PTEN mutation. Her physician performed a physical examination and blood test, and she came back positive for a PTEN mutation. Cheyenne bravely made an appointment with her breast specialist, and he explained to Cheyenne that if she kept removing lumps from her breast, there would be little left. He also taught her that she was at a high risk for breast cancer, 85% lifetime, and while screening for breast cancer is an option, preventative mastectomies would significantly reduce her risk. She gave this careful consideration praying long and hard about the decision. Cheyenne felt that most people find out their risk too late, and don’t have the option to screen or take preventative measures. After an in-depth discussion with her parents, she decided that preventative surgery was the best option for her. Exactly one week after Cheyenne graduated high school, she underwent the first part of her double mastectomy. Five months later she completed her surgery and reconstruction. She is 22 years old today and goes in for yearly dermatologic checkups often having skin lesions removed.
Despite this adversity, Cheyenne thrives and loves life. She has two precious baby girls. Unfortunately, her daughters have a PTEN mutation. While this is concerning for their family, they feel they have the knowledge they need to provide their daughters the best care.
Daphne is 4 years old – she has been diagnosed with PTEN since she was just over one although they knew since birth that she had a genetic condition. She was born 11 weeks early and weighed only 2lbs. She had a white birthmark extending from the tip of her nose to her forehead, as well as an odd linear sebaceous that made the doctors in the NICU take a closer look during initial exams. They found multiple brain malformations, which were more clearly identified when she was large enough to handle an MRI. Her malformations are polymicrogyria (right frontal lobe), hemimegalencephaly, and agenisis of the corpus callosum. She started having seizures at 1 month old, and these progressed to infantile spasms, which she is still treated for today. She has several diagnoses due to her condition including hypertonia, global developmental delays, kidney stones, lipomas and other benign tumors. She started walking just before she turned three and has a communication device that she is quickly progressing on using in addition to sign language for communication. She is a smart young lady who loves school, cartoons and getting messy. She is brave, strong, and we are very proud of her.
I have PTEN. This year I became a four-time cancer survivor. As part of my PTEN experience, I was born with an AVM. AN AVM is a bunch of arteries and veins tangled together., and my AVM is on my left hip. Over the years I have experienced pain and many surgeries, and unfortunately, the AVM could never be corrected. Over the years the AVM has grown big enough to affect my heart. I have a good cardiologist who treats my right-side heart failure. The AVM has caused pulmonary hypertension which is hypertension of the lungs.
In the 70’s when my thyroid problems started. My physicians removed my thyroid with four surgeries. Next week, like many of us, do on a regular basis, I see a thyroid surgeon about my current issues.
I am more than PTEN, cancer, and lots of doctors. Ask me anything about low salt cooking, and I am a pretty awesome artist too.
I am Tami. My 40th high school class reunion is next month and I still here.
MEET SARA-BETH ANN
Follow the link below to read Sara-Beth’s remarkable journey.
In late 2009 I was given a presumptive diagnosis of Cowden’s syndrome (CS); this came about in a rather unusual way. A few months earlier I had visited my GP due to some small bumps which had been present on my palms and the soles of my feet for many years, and the bumps were increasing in number. It was not the first time I visited my GP about these, but I was again told the bumps were warts. I was convinced his opinion was wrong, so decided to try and diagnose them myself and see if there was some kind of treatment available. Although I am a dyslexia assessor and tutor for adults, I also taught anatomy and physiology in college so I was aware of good dermatology websites. Within 20 minutes, I had self-diagnosed the bumps (correctly as it turned out), and that led me to the knowledge that I fit the Cowden’s Syndrome diagnostic criteria. It was not a good moment when I found out it was a genetic condition with a high risk of breast cancer, especially as I have a daughter who had given birth to a daughter a few months earlier, and I had already had a mastectomy. I sat in front of my computer absolutely stunned, and devastated by the thought that if I did have the syndrome I may have passed it on to the people I love most in the world.
When I gathered myself together, my next move was to research to find a consultant who had experience diagnosing CS. Eventually, I found a cancer geneticist in Oxford; I emailed her and sent her my pathology reports. She messaged me to say that she thought I could have Cowden’s, and told me to get a GP referral to her clinic. After a thorough consultation with her and her team, I was told they were sure I had CS. To confirm the diagnosis PTEN and then SDHB/D gene mutation tests were carried out; apart from finding a variant of one gene, the results showed no mutations, so I retained my ‘presumptive’ diagnosis. In 2012 I was enrolled in Professor Eng’s PTEN study for further testing on my DNA. Results have come back confirming the PTEN tests performed in the UK, but I am still awaiting the results of other tests.
My presumptive CS diagnosis came five years after I was diagnosed with breast cancer and a year after being diagnosed with pre-cancer of the uterus. My breast cancer consultant was not aware of the diagnosis until I gave him a copy of the geneticist’s letter which stated her opinion that I had the syndrome. He was visibly taken aback and said he had never heard of CS. I was really surprised by his reply as he is a highly experienced breast cancer consultant. I thought his honest response revealed a gap in knowledge which was probably common to a number of other doctors who treated women for breast disease. At the end of the consultation, he stood up and shook my hand and thanked me for alerting him to the syndrome.
Before I left his office he contacted another breast cancer consultant, and I was invited to be involved in my local hospital’s medical education program. Twice a year, I have the opportunity to inform medical students about the signs and symptoms of CS, and I let them know that it is under-diagnosed because many doctors are not aware of the significance of the typical skin and/or oral mucous membrane lumps and bumps seen on the majority of people with CS. They are always interested to hear about the syndrome and grateful for the opportunity to see the skin signs.
In my opinion, given the high lifetime risk of women with CS developing breast cancer, I think it is essential that all medical staff working in breast clinics are aware of CS and educated to recognize the visible signs. I was not a stranger to breast clinics, as I had a long history of benign breast problems; if a doctor had recognized that I had some of the skin signs associated with CS, I could have had the option of prophylactic surgery many years before a high grade malignant tumor developed in my breast. In my opinion, women who show visible signs of CS should not be able to walk out of a breast clinic oblivious to their risk of developing cancer – or yet another cancer – because the signs and symptoms of CS were missed due to a doctor’s insufficient knowledge of syndromes which confer a high breast cancer risk. It should not be an optional element of the job to know about rare syndromes.
Via the internet, I have read the experiences of others who live with CS, and regardless of location in the world, it is clear that many are frustrated by their journey in healthcare systems. Difficulties in getting a diagnosis, access to doctors with specialist knowledge and expertise, poor coordination of healthcare following diagnosis, inadequate follow-up and lack of provision of patient-friendly information about CS are some of the common issues which cause great stress. Add to that the challenges of juggling work and medical appointments; feelings of isolation; financial worries; guilt of passing CS on to one’s children and uncertainty about what CS will bring in the future makes living with the condition a test of endurance. Fortunately, the creation of the PTEN Hamartoma Tumor Syndrome Foundation offers the opportunity for the voices of those with CS to unite and amplify to create a greater awareness of the condition, as well as facilitating those with CS and health professionals to share experiences and knowledge for mutual benefit.
Our story begins with a baby boy born on June 28th 2003. He was 8lbs 2oz and arrived by C-section due to failure to progress. Jameson was a big boy and came into this world with a subarachnoid hemorrhage, GERD, apnea, and a VSD murmur. It was explained to me that the hemorrhage was a brain bleed that had nothing to do with the brain, but the blood vessels between the scalp and skull that burst and that they would heal and be fine. We are still waiting on normal. Jameson was referred to the Babies Can’t Wait Program, I had no idea what this was and why we needed it, because I was told once the bruising went away he would be normal. Jameson literally slept for the first four months of his life, the only thing we had to do was feed him and change his diaper.
Jameson came home with an apnea monitor though it only alarmed us once in two months. At Jameson’s two-month check up, the pediatrician asked if he was tracking with his eyes or reaching for toys. I told her the only thing he did was sleep. I was given the information for Babies Can’t Wait program, I asked what the program entailed and was finally told that the brain bleed could leave him with CP, with that we started paperwork for much needed therapy. When Jameson was about 4 months old he woke up a bit and was a happy baby. He only cried when something was put on his head and to this day he still hates hats. We remained in the Babies Can’t Wait Program until age 3. During this time, Jameson was diagnosed with asthma. By 12 months he was babbling, however he had few words. I asked the pediatrician if she thought he might have autism, she replied, “let’s wait and see.”
After talking with our Babies Can’t Wait service coordinator, I knew we had to find services for Jameson because Babies Can’t Wait stops providing services at age 3. We ended up at the Marcus Center in Atlanta, the developmental pediatrician there gave us the autism diagnosis along with PDD-NOS. She felt there was more so she sent us to genetic testing at Emory University, there we got the PTEN Hamartoma Tumor Syndrome diagnosis. Our son has Cowden Syndrome, BRRS, and Proteus Syndrome. Cowden Syndrome involves multiple organ systems therefor we have an array of specialists we see yearly. We are always looking for information and studying to make sure we have everything covered and are open to suggestions and advice.
Thank you for sharing our story.