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What is PTEN?
PTEN Hamartoma Tumor syndrome (PHTS) is a rare genetic condition that causes an increased risk for certain cancers, benign growths, and neurodevelopmental disorders. PHTS describes any person who is found to have a change, or mutation, in the PTEN gene; some persons may also carry diagnoses of Cowden syndrome or Bannayan-Riley-Ruvalcaba syndrome, which are based on their personal medical history and the features they have developed.  One of PTEN’s roles in the body is as a tumor suppressor gene, which means that when it’s working properly, PTEN helps suppress the growth of any cells which are trying to grow out of control and become tumors. All of our genes come in pairs; persons without PHTS have two working PTENgene copies in each of their cells. In people with PHTS one of these PTEN gene copies has a change that makes it notwork in each of the body’s cells. As you can imagine, this puts people with PHTS at increased risk to develop tumors.
Fortunately, most tumors that develop in persons with PHTS are benign, meaning they will not turn into a malignant cancer that can then metastasize or spread, to other body parts. Persons with PHTS commonly develop benign growths, most of which are small, of the skin, tongue, and gums by adulthood. It has recently been discovered that colon polyps of various types, most of which have a low potential to develop into a malignancy, are seen in most adults who have an endoscopy (colonoscopy or upper). Benign breast lumps, thyroid nodules/goiter, and uterine fibroids are also common. Vascular malformations needing surgical intervention may also occur. A benign tumor of the cerebellum called Lhermitte-Duclos disease develops in a minority of adults with PHTS. Macrocephaly (larger than average head size) is common, and some children with PHTS are identified due to the presence of developmental delays and autism spectrum disorders. However, many persons with PHTS had no developmental challenges early in life and have successful careers as doctors, lawyers, or whatever other path they wished to follow.
For a person with PHTS, three different studies have found increased lifetime risks for specific cancer types. The study with the largest number of patients found the following cancer risks (to age 70): breast (85%), thyroid (35%), kidney (34%), uterus (28%), colorectal (9%), and melanoma (6%).  This study also recommends the following cancer screening recommendations:
- Breast (women): start high-risk breast screening (mammogram or MRI) plus clinical breast exam every 6 months starting at age 30
- Thyroid: annual ultrasound starting at age of diagnosis
- Kidney: imaging every two years starting at age 40
- Uterine: see a gynecologic oncologist starting at age 30 to discuss uterine cancer surveillance options
- Colon: baseline colonoscopy at age 35-40; follow-up dependent on number and type of polyps
- Skin: yearly dermatologic checks
Some patients wish to consider prophylactic surgeries, like mastectomy (breast) and hysterectomy (uterus) where at-risk tissue is removed prior to cancer development.
Just like snowflakes, no two individuals with PHTS are alike. While some may develop hundreds of colon polyps, others may only develop a few. Similarly, while some persons have such severe thyroid disease that they require more frequent monitoring or even a thyroidectomy (thyroid removal) surgery, others do not. Given the differing needs of each person, screening and healthcare recommendations often vary from person to person. It can be helpful for persons with a complex condition like PHTS to have a “quarterback†who understands their management needs and helps coordinate visits and screenings with appropriate specialists; for some this quarterback may be their primary care provider, for others it is the genetic counselor or geneticist who made their diagnosis. Persons with PHTS are commonly connected with specialty physicians in the areas of high-risk breast care, endocrinology, gynecology-oncology, dermatology, and gastroenterology to help with their management.
PHTS is inherited in an autosomal dominant manner; this means that each child of an affected person has a 50% chance to inherit their PTENgene mutation and thus also have PHTS. It also means that their siblings, parents, and other relatives are at increased risk to share their specific PTENmutation. Once a PTENmutation is known to exist in a family, it is much cheaper for relatives to have testing for a known mutation as opposed to testing the entire PTENgene. If you have PHTS, consider sharing your PTENtesting results with your relatives. If they have a copy of your test result, they can take it to any genetics provider, who will then be able to discuss testing with them and help them figure out if being tested is the right decision for them at this point in their lives. Genetic counselors in the United States and Canada can be found by going to the National Society of Genetic Counselors website: www.nsgc.org.
For many persons, learning of their or their child’s PHTS diagnosis is a relief and gives them an explanation for many of the medical issues they may have faced during their lives. Some persons may feel scared, angry, or confused about their diagnosis – all of these feelings are valid, and for some people, it’s helpful to share their feelings with others who also have PHTS. Fortunately, there are a few different groups available where patients and families can connect to provide support to one another.
Articles Referenced
- Tan MH, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C: Lifetime Cancer Risks in Individuals with Germline PTEN Mutations. Clinical Cancer Research: An Official Journal of the American Association for Cancer Research 2012, 18(2):400-407.
- Bubien V, Bonnet F, Brouste V, Hoppe S, Barouk-Simonet E, David A, Edery P, Bottani A, Layet V, Caron O et al: High Cumulative Risks of Cancer in Patients with PTEN Hamartoma Tumour Syndrome. Journal of Medical Genetics 2013, 50(4):255-263.
- Nieuwenhuis MH, Kets CM, Murphy-Ryan M, Yntema HG, Evans DG, Colas C, Moller P, Hes FJ, Hodgson SV, Olderode-Berends MJ et al: Cancer Risk and Genotype-Phenotype Correlations in PTEN Hamartoma Tumor Syndrome. Familial Cancer 2013.
- Mester J, Eng C: When Overgrowth Bumps Into Cancer: The PTEN-Opathies. American Journal of Medical Genetics Part C, Seminars in Medical Genetics 2013.
Ten Rules of Cancer Land- Candid Truth about Cancer and Cowden Syndrome
You don’t know what’s in you – until they, the surgeons, go in you.
The first thing we want to know – or nearly the first – upon hearing, “I’m sorry, it’s cancer,” is usually: “OMG – what stage am I?†I seem to hear countless stories about how they were stage one until the surgery showed they indeed staged Three, how devastating. Your world has just turned upside down and now the one person who you just KNOW is going to save your life gives you false info. WHAT! We need to remember that Doctors are human, they don’t have x-ray vision, they don’t know what is in you – until they go in you.
I am not just any patient.
My first kidney doctor taught me a valuable lesson: I am not a “normal†patient. Oh, sure I’m chatty, interactive, enthusiastic to a fault. But he taught me when he said, “Oh let’s call “IT” a cyst,†and “IT” turned out to be stage one Kidney Cancer that I am not just any patient, I am unique. I am a mutant carrying a PTEN Tumor Suppressor Gene Mutation that labels me with a rare disease called Cowden’s Syndrome. Truthfully this makes me a Rockstar in the world of genetics. It means that everyone who is a part of my medical team MUST put on the right ‘glasses’ from behind which they view me. Otherwise, any assumptions are off. I am, as I said, a mutant. I like to think of myself as an X-man.
I am part of the team.
Shockingly as I lay in pre-op before my kidney surgery, I found myself surrounded by a team of good-looking men. DOCTORS! (Why this didn’t happen 15 years ago when I was dressed in more than a sheet I’ll never know!) They were launching into what appeared to be a serious conversation that was the download for the actual surgery. I lay in disbelief as I listened to details and as they all agreed upon procedure, one at a time, all heads turned to me –for my agreement. I questioned them, trying to lighten the mood, “You don’t want me to agree, do you?†The head surgeon smiled and said, “Yes you are part of the team.†Wow. Yes, I am.
Where your heart is full, there you will heal the best.
I interviewed seven surgeons, SEVEN. Any cancer patient knows that takes a ton of time, patience, and stamina. I was asked, “What are you doing? You’re wasting time! They are all going to tell you the same thing!†I replied, “I get it but who is the best?†The patient-doctor said to me, “They are all good, and some days they are all bad. Pick one – where your heart is full, THERE you will heal the best.†Wow. Revelation! Where we have comfort, trust, hope, we heal. We move forward.
Cancer sucks!
What else needs to be said? Maybe just adding the famous quote: “Sometimes the only way out is through.â€
We’re all in this together.
I always thought, upon my diagnosis, “Whew, Thank God it’s not my kids,†but in reality, even if I’m the patient they are affected. Whether it is overt, subtle, or suppressed, our families will carry our diagnosis with them. Reaching out to support organizations is vital. Camp Kesem (www.campkesem.org) was crucial in helping my children cope, grow and relate to other kids whose families battle cancer. My kids are stronger because of the support we’ve had from Camp Kesem. Regardless of the need, don’t think you have to go this alone. Find the foundation for your network to keep moving forward.
Humor is healing.
But not for everyone. I have excellent cancer humor, truthfully. However, I am sure to some it can be quite offensive although the intent is just to lighten what is a terrible situation. We, as patients, need to remember to find our source of healing, is that daily yoga? A specific friend who supports you? Or humor, cracking jokes and hoping they don’t fall flat with the right audience. If we find our outlet, it helps us all. 
A good doctor lets you talk.  
The Physicians are not afraid to tell you when it’s their turn to speak. Remember that incorrect kidney diagnosis from commandment #2? He is a reliable doctor I am sure, but his style and my style did NOT integrate into a successful team. He just would not let me speak my mind, and where is the peace in that? Alternatively, I have a plastics doctor who doesn’t hesitate to put his finger to his lips in a gesture of silence when it’s his turn to talk. I had to have the strength to find another Kidney doctor, and know I was doing the right thing for me.
Second and third opinions are a good thing.
How valuable it is to our peace of mind to have your path validated – your treatment plan echoed by a second doctor! If for no other reason than knowing you’re on the right track, the patient’s peace. Find that opinion. Know you are doing the right thing, and act on it!
I have cancer – cancer does not have me!
We hear it. We read this on many cards, plaques, well-meaning pieces of art. Yah, whatever. But think about it. If we stay strong, if we remain focused on the fact that our lives move forward, we CAN do this.
Advice for parents of children with PHTS and autism – Dr. Thomas Frazier
Many children with PTEN hamartoma tumor syndrome (PHTS) have neurodevelopmental conditions such as autism. These children have distinct strengths and challenges in addition to those commonly seen in PHTS without neurodevelopmental issues. In 2016, our team at the Cleveland Clinic Children’s Center for Autism published the first comprehensive description of PHTS with autism.
We found that affected children, adolescents, and young adults tend to have significant challenges with mental processing speed and working memory. In other words, they struggle with rapidly processing incoming information and then holding that information in their minds long enough to guide their actions.
Their challenges with working memory and mental processing proved even greater, on average, that what we see in other children on the autism spectrum. Like many people with autism, some individuals with PHTS and autism also have problematic sensitivities to certain sights, sounds and textures and/or difficulty screening out distracting stimuli. At the same time, we did not see overall differences in the severity of core autism symptoms. In other words, their challenges in social communication and repetitive behaviors tended to be like those of other children on the autism spectrum.
We likewise saw a wide range of symptoms and associated challenges, which is also typical of autism. This ranged from mild autism symptoms and average cognitive, or intellectual, abilities to severe autism symptoms with impaired cognition (intellectual disability). These findings reinforce the importance of tailoring interventions and support services for each child, teen, or adult. Along these lines, we developed tailored advice for three distinct groups, as well as general advice for supporting anyone affected by PHTS and autism. As follows: 
Group 1: Young children
Young children with PHTS and autism may require early behavioral interventions to optimize daily functioning and learning. Even among children with strong cognitive skills, early intervention can minimize daily challenges such as resistance to change, while broadening interests and promoting social development. For young children with cognitive impairments, early and intensive intervention is particularly important for improving social communication skills. As appropriate, strategies can include the use of a speech-generating device or picture-exchange system and behavioral therapy aimed at decreasing repetitive behaviors and expanding restricted interests as well as step-wise learning of daily living and social skills. In addition, parent training and behavioral and/or medical treatment are crucial when a child is affected by one or more of the health issues that commonly accompany autism. These include disrupted sleep, anxiety, sensory aversions and challenging behaviors. We empower parents when we teach them how to engage with their young children, ease their emotional issues, improve their sleep and replace problematic behaviors with those that increase the quality of life.
Even a short burst of parent training in behavioral strategies can produce lasting benefits for many children and their families.
Group 2: Older children and teens with significant cognitive impairments
The intervention needs of young children often apply to older youth with cognitive impairments. Many older children and teens in this group benefit from an intensive behavioral teaching approach that addresses skills needed for success in school and daily living. It’s important to tailor these social-communication interventions so they make sense to the older child or teen. This includes progressive teaching and reinforcement of social communication strategies that enhance the ability to socialize with others and to ask for what one needs in socially appropriate ways. Such skills go far in improving quality of life for both the child and the family.
Importantly, parents should know that they don’t need to “go it alone.†I encourage them to look for parental support programs in their community, county, and state, in addition to opportunities for financial support and publicly funded therapies for their children. It’s encouraging to see many states and communities increasing the options available to children, adolescents, and adults with autism. So stay connected and continue to inquire.
Group 3: Older children and adolescents with average or above cognitive ability
Social skills tend to rank among the chief challenges when autism affects a child or teen with average or above-average cognitive abilities. Building social skills is an ongoing process that needs to be tailored to each child’s unique – and changing – challenges and strengths. This includes building on personal interests and social motivations. Typically, the most successful interventions combine behavioral and cognitive approaches. The behavioral aspect involves positive feedback to reinforce each step toward mastering an appropriate behavior. Take, for example, the step-wise mastery of acceptable table manners. The cognitive aspect involves learning the “language†of social interactions. This can include learning to maintain an appropriate distance when talking along with the steps to initiating, maintaining and ending conversations. Many cognitively able older children and teens do well in a social skills training and support group.
We’re seeing a growing number of such programs, some covered by health insurance and some included in special education programming. In addition, many individuals with milder impairments do well in a supportive community group such as a church “night out” or after-school club. I encourage parents to seek out more information about local programs. For instance, ask the leaders of a social-skills support group about their training, experience level and the cognitive and/or behavioral approaches they use. Do they base their program on evidence-based strategies (methods that researchers have evaluated and found effective)?
General advice
As a general strategy, keep in mind PHTS-related difficulties with working memory and processing speed. It’s remarkable how effective it can be to simply speak more slowly, especially when giving directions. Of course, you want to personalize this approach to avoid making the child, teen or adult feel “talked down to.” These strategies are likewise important for teachers, therapists, and other caregivers. In particular, I recommend talking with teachers about these working memory and mental processing challenges. Otherwise, the fast pace of instruction in a classroom can prove overwhelming.
The best educational approaches often include presenting information in multiple ways (e.g. with written, spoken and highly visual content) and in a slower, more deliberate fashion. It can also help to repeat information and/or ask questions to check that information is entering working memory.
Capitalizing on strengths
Just as importantly, I urge parents and other caregivers to keep mindful of the strengths that frequently accompany PHTS. One of the most remarkable and common is high social motivation, sincere interest in others and a desire for close contact with loved ones.
We’ve also observed that some children with PHTS and autism show greater cognitive flexibility – or an ability to “go with the flow” – than is typical of others on the autism spectrum. When they do struggle with changes in routine, the associated anxiety and resistance can be milder than is typical with autism.
Looking for and playing to strengths such as these can prove extremely helpful when supporting daily function and learning, and addressing challenging behaviors.
Inspiration for parents
As parents, many of us have felt unprepared to meet the challenges that a neurodevelopmental condition poses for our children. It helps to remind ourselves of the moments that give meaning to our lives, provide us with a sense of purpose and encourage us to be better people.
My colleagues and I are continually inspired by the many families and caregivers who work with us. Their resilience and positive outlook exemplify how challenges can become opportunities. Below is some general advice that can maximize this transformative process.
- Positive reinforcement consistently proves more effective than punishment. It also avoids promoting aggression. Focus on gradually shaping behaviors with positive reinforcement. Your child’s therapist and/or healthcare provider can help you find behavioral training programs for parents of children with developmental disabilities.
- Focus on daily and weekly pleasures. Make sure each week has small, pleasurable experiences, like sharing some popcorn or going on a family walk. Such daily pleasures can enhance happiness and quality of life more than, say, a yearly vacation or even a monthly trip to a favorite place.
- Try to balance accommodating your child’s challenges with addressing or remediating them. In other words, there may be times when it’s more appropriate to make allowances than work on change. This requires a thoughtful approach to deciding when working on a new skill is developmentally appropriate and has real value for your child. Listen to your instincts but also get input from your child’s therapists when deciding how and when to introduce new targets.
- Parenting any child can be draining. Respect that you can and will get tired and frustrated. See if you can trade off with other parents and caregivers. I recommend having mutually understood buzz words like “I need a break” so that you can get prompt relief when needed. If you don’t have other caregivers for mutual support, talk with your child’s therapist, teacher or healthcare provider about available community supports for parents of special-needs children.
- Schedule time for yourself and your important relationships with your spouse, other children and extended family and friends.
- Keep a written record of your child’s new skills, particularly if his or her development feels slow and gradual. It can be a tremendously motivating way to see all the milestones your child has reached over the years. It’s important confirmation that your hard work as a parent is paying off.
I hope this advice and perspective proves helpful. I want all parents of children with neurodevelopmental conditions to realize that this journey can be the most rewarding experience of their lives. Enjoy it and keep up the good work!
– Thomas Frazier, Autism Speaks Chief Science Officer
Dr. Eng’s Journey to PTEN Research
PASSIONATE ABOUT SCIENCE AND MEDICINE FROM AN EARLY AGE
I’ve always wanted to be a doctor, to help people, ever since consciousness. When I was four years old, I knew I wanted to be a scientist. I was inspired by my uncle who became the chair of medicine in Singapore, where I was born, and the prime minister’s physician. Somehow, even at 4, I saw that science drove the evidence for medicine. In the 4th grade, I took a class which included the world’s top medical science discoveries. We were reading about Louis Pasteur, van Leeuwenhoek…
When I was in the 7th grade, my father was sent on a scholarship to do his PhD at the University of Chicago, so we all went, as I am an only child. There, I attended the University of Chicago Laboratory Schools, an inspirational school with inspirational teachers. We had a 10th grade advanced biology teacher whose passion was genetics. He loved it! You could clearly see that. In his spare time, he taught cancer education.
It was then that I said, “I’m going to put cancer and genetics together.” This passion for science and medicine, in the fields of cancer and genetics, led to my current role as the inaugural Chairwoman of the Genomic Medicine Institute and founding Director of its Center for Personalized Genetic Healthcare at Cleveland Clinic’s Lerner Research Institute.
MULTIDISCIPLINARY PRECISION CARE for PTEN PATIENTS
I have dedicated my career to identifying genes associated with inherited cancers through patient-focused research, with discovery of PTEN germline mutations in Cowden Syndrome patients in 1997. My 20+ year research on PTEN has formed the basis for evidence-based clinical care. As such, I serve as Medical Director of the Cleveland Clinic Cowden/PTEN Multidisciplinary Clinic, the only one of its kind in the world.
We look after patients by gene and the gene pathways, rather than by isolated clinical diagnosis. Irrespective of clinical diagnosis, if a patient has a PTEN mutation, he/she is looked after under our one multidisciplinary roof.
In other words, this is PTEN-informed precision care. Since its inception in 2005, hundreds of patients and families have been referred to our PTEN multidisciplinary clinic from across the globe. We put patients and their families first by ensuring timely patient appointments are coordinated with the appropriate specialists, knowledgeable in PTEN, throughout Cleveland Clinic, including breast specialists, endocrinologists, neurologists, gastroenterologists, psychologists, etc.
PATIENTS PLAY AN IMPORTANT ROLE IN RESEARCH DISCOVERIES
Research obtains vital evidence on which the best medicine is practiced. I always wanted to hunt for genes associated with hamartoma syndromes, ever since I was a medical student. I knew then that I had to act to put my high school thoughts of the fields of cancer and genetics together. But, at that time, there were no formal training programs in cancer genetics for both research and clinical care. I therefore sought this unique training at the University of Cambridge, UK, returning to Boston thereafter, to begin my first independent position. My Cowden syndrome patients and families quickly volunteered for my research to look for their gene, and that was PTEN.  Thus, my research goals have been gene-informed diagnosis, prediction of cancer and other clinical risks for accurate genetic counseling, so as to tailor high-risk care, early detection and prevention strategies for the patient and family.
With our first research findings, we were able to give back research-informed clinical care to all the patients who participated in our research and to many others around the world. Realizing that recognition of our patients so they may be referred to expert care was a common issue, we then focused on our patient-research participants to come up with the PTEN Cleveland Clinic Score, a clinical assessment tool that estimates the probability of having a PTEN mutation, after a decade-long study. This score is based on straightforward clinical features which any caregiver can enter, with a resulting score over 10 suggesting referral for expert evaluation.
By prospectively following our group of patient-research participants, we were, for the first time, able to delineate the age-associated and lifetime cancer risks for PHTS, encompassing those of the breast, thyroid, endometrial, colon and skin. We immediately began to reach out to our research participants and patients to inform them of our new findings so that their care would be enhanced. Thus, our model of from the clinic to the laboratory, and back again to clinical practice, has been successful and we will continue this effective strategy.
As such, PTEN Hamartoma Tumor Syndrome (PHTS) patients and families just like you have inspired and facilitated these research discoveries because of their decision to participate in research.
Current ongoing studies include:
- research about patients with PTEN mutations with and without ASD, which combines clinical patient information with DNA, RNA and protein studies of PTEN and related pathways to better understand molecular, brain and behavioral differences and their development;
- parallel study asking what is the switch that dictates how/why a PHTS individual has ASD, cancers or both;
- our 20-year strong PHTS study on cancer risk;
- an examination of the gut and oral microbiome (bacteria) in patients with PTEN mutations to determine whether there is an association with outcomes, specifically as cancer and ASD; and
- a pilot clinical trial of everolimus for individuals with PTEN-ASD.
TOWARD BETTER MEDICAL CARE
Our ability to care for and study PHTS patients helps us to move toward better medical care.
For this reason, I am excited to be working with the PTEN Hamartoma Tumor Syndrome Foundation to plan a first-of-its-kind, international, patient-centered meeting on March 25-26, 2018, in Hunstville, Alabama. I, along with several of my colleagues, will be speaking on topics ranging from PHTS cancer risks and clinical screening recommendations, daily management of autism and developmental delays, and current research studies for PHTS patients. As a patient-focused meeting, it will be a tremendous opportunity for you to not only learn more but also to connect with others with PHTS. I hope to see you there!
By:  Charis Eng, MD, PhD, FACP, Cleveland Clinic
A letter to PTEN Deletion
Dear Deletion,
My mother-instinct told me you were with us long before we were formally introduced. Â You witnessed the birth of my precious child. Â His head and body too large (with you) to come into this world without the help of modern technology. Â You stood there silently as the doctors marveled at the giant infant in my arms. Â I carried you, I rocked you, I held your tremnedous weight in my arms every day. Â You tried to prevent my tiny treasure from hitting his milestones. Â I wondered if your weight would be too much for him, but as he pushed forward learning to walk and talk I learned to be greatful for things other parents took for granted. Â As you tested his ability to overcome obsticals we both became stronger. Â He discovered the ability to work hard and accomplish great things and I became patient and more compassionate.
I remember the day we were first introduced.
I remember the day we were first introduced. Â My husband and I sat in a tiny room while medical experts and social workers revealed your true identity. Â At first I was thrilled to hear your name. Â Thrilled to finally learn about our sons mysterious cohort. Â When they told us that someday you would likely give him cancer and that you were the reason that he now suffered from autism, Â my feelings for you changed. Â I hated you. Â I feared you. Â I wished you never existed and I prayed that you would disappear.
You stood inbetween me and the other mothers at the library, the park, and the playgroups. Â You made them feel awkward as they boasted about their childs latest accomplishments. Â They would catch a glimpse of you and and their look of pride would turn into something uncomfortable as they would stammer off an appology or offer the reassurance “not to worry” because “susie is just gifted…and most kids her age can’t do that.” Â I felt so alone and I didn’t think I could bear watching you hold my darling in your possessive and isolating grasp, Â preventing him from playing with others. Making it impossible for him to run or jump like the other kids. Â Your chaotic presence overwhelming his senses, making it difficult for him to concentrate, leaving him unable to find the words to express himself. Â Did you realize that his love and compassion for others would barrel over you? Â You could not stop a child who offers such joy from being loved.
You have taunted me with your power.
You have taunted me with your power. Â You have already threatened to take his life and the memory of that day still haunts me. Â Anxiety attacks me while I sleep and I wake unable to breathe. Â When I think of how incapable I was of protecting him from you I feel worthless as a mother and weak. Â On the other hand when I look at the scars you left behind I am reminded of his strength and it renews mine. Â You should know, I will never give up. Â I will do everything I can to protect my baby, and will fight with him no matter what.
I’ve learned from watching my son navigate through this world with your companionship. Â You’ve educated me on topics ranging from special education to civil liberties. Â You’ve reminded me that the value of a person does not lie in their ability throw a football or make honor roll. Â You have taught me not to judge a person by their weaknesses. Â You have shown me that there are no limits on any individuals possibility. Â You’ve introduced me to a community of people with special needs and given me a greater understanding and compassion for my fellow man espeacially those with physical or intellectual disablities.
You do not dictate our lives
You do not dictate our lives, although your challenges have forged us into something beautiful and strong. Â I have stopped wishing you would magically disappear because I know you will not. Â Now my hopes are for medical advances that will disarm your threats. Â I write this letter to you in hopes that more people will learn your name. Â In hopes that more funding and research will find solutions to the trials you’ve promised for us.
By Greta
After only one year of teaching I am now on sabbatical for an undetermined period of time. I say “sabbatical” because my husband is willing to pay the bills while I stay at home with our little boys.
Living a Positive Life After Diagnosis
My name is Suzannah. I’m 51 years old , married with two adult daughters and I live in Western Australia.
At the age of 11, I had my first indication that something was not right with my body. A huge lump developed on the outside of my left knee sending my parents into panic mode and in turn me into theatre for surgery. It was a haemangioma and as it wasn’t cancer, everybody breathed a sigh of relief and moved on.
Another lump grew and another and another. Each time my Dad (a doctor) would weigh up the situation and often because my lumps were adjacent or on nerves and painful, they were removed. I remember a specialist saying this would stop at about eighteen. As my kids would say… LOL.
Every school holiday seemed to have surgery appointments and I went with the flow. At 18 however I had enough. My friends had gone away together and instead of joining them, I was in hospital having a tumour removed from under my scalp. For a brief period, doctors believed it to be malignant and I was terrified. It wasn’t malignant, but the fact it could have been missed messed with my head.
I met the man who would become my husband. Even while dating, he would drive me to our closest city Perth for surgery and removal of lumps. Each time the diagnosis of benign gave us emotional relief, because even though I had never had a malignant diagnosis, we lived in fear of one.
Around the time I was pregnant with my first child, my thyroid ballooned and a multinodular goitre was diagnosed. The doctor explained that lumps were growing on my thyroid, a simplistic explanation but one which presented a problem. I was pregnant and struggling to breathe because my thyroid was blocking my airways. A few months after giving birth, half of my thyroid was removed. This procedure would come back to haunt me.
By the time my forties arrived, my thyroid had regrown, wrapped itself around scar tissue, and was causing me grief. This time I needed a full thyroidectomy and there was a fear I would lose my voice due to the complexity of the surgery needed. I didn’t, and I will always remember the relief in my doctor’s face when I spoke.
Thyroid surgery knocks you around big time, but as a mother, and a teacher, and a wife, you have no option but to carry on. I struggled with lack of energy on a daily basis, but as I said, you carry on and unfortunately, it becomes your normal.
Lumps continued growing. A breast examination revealed a huge lump and a know it all technician told me it was cancer. My life caved in and the worst two weeks ever ensued. It was benign. Unfortunately, this was not to be the last time somebody gave me information which was incorrect.
At age 42 however, the results were different and I was diagnosed with breast cancer. I had a bilateral mastectomy with reconstruction over two years and was treated with tamoxifen which was awful but necessary. While going through the second part of the mastectomy another lump ( on my scalp) was removed. This was diagnosed as a sarcoma. My body was seriously unwell. After my second mastectomy I required a transfusion because my iron levels were so low. Obviously bleeding from somewhere, I was sent for a colonoscopy. The doctor said he had never seen anything like it. My intestines looked like a flower garden. I literally had hundreds upon hundreds of polyps and structures called hamartomas and this was the source of bleeding.
My Dad, now retired was perplexed. He more than most knew my medical history and he needed answers. Whereas at age 11 life had gone on after one lump, at age 43 this was just beyond ridiculous. We needed answers. His research led him to Cowden’s syndrome. The day he told me I cried with relief. There was a reason. I hadn’t done anything wrong. Genetic testing confirmed the diagnosis.
Knowledge to me is power so I set about learning everything I could about Cowden’s syndrome and pten. Later that year I had prophylactic surgery to remove my uterus, but kept my ovaries. Well I kept them for two years, until severe pain and a possible ovarian cancer diagnosis resulted in the removal of my ovaries and appendix. Both were full to bursting with lumps. Years of back pain stopped but life as I knew it changed forever as life without ovaries is not fun at all.
All of these surgeries required time off work. I will always be grateful for the support my principal gave me throughout. Looking back now I should have stopped work, but we needed the money. The government supported us to some extent but the bills just mounted.
Emotionally the years have taken their toll. I am mentally and physically exhausted and my body struggles. Remember, I have no breasts, no thyroid, no ovaries, uterus or appendix. My body is littered with scarring which aches when weather changes. I could go on but I won’t.
The money worries, the looks on family member’s faces, the tears of your children who think Mummy is going to die, the stress on your husband’s face. Pick any one of the above as a reason why I was determined to pick myself up and carry on. In the middle of 2013 this all came to a head.
My eldest daughter Ashton became seriously ill, so ill we could have lost her. Her story is a lengthy one but in a nutshell a clot had formed in her brain and her cells had gone berserk. They were growing out of control and forming abnormal connections everywhere. Over 3 years she would have 16 brain procedures.
I mentioned PTEN and Cowden’s syndrome. Doctors disregarded this or they looked at me with question marks. Most doctors have no idea about this condition and some refuse to acknowledge that a lay person may know more than them. One day during one of her procedures, her thyroid lit up like a light house. The doctor told me she may have thyroid cancer. I told him she probably had a multi nodular goitre and Cowden’s syndrome. I was right. (Fast forward to 2016 and Ashton’s thyroid was removed. They stopped counting at 100 nodules.)
The incidence of Cowden’s syndrome is 1 in 200,000. There are two in this family. My parents are diagnosed negative. It all started with me and I passed it to one of my children. It’s a bitter pill to swallow. Would I have had children if I knew my diagnosis earlier? Probably. There was 50% chance of passing it on and 50% chance of not. I would have risked it.
These days I worry more about my daughter than myself. Though she is stable at present, I worry about the future and what may come. People say to think positively and this infuriates me. I think realistically and hope to be incorrect. I am heartened by the fact that Ashton “knows”. She has all the right monitoring and can do all the right things to hopefully nip anything new in the bud.
I continue to grow lumps, some in not very nice places. I worry every day about cancer, but I have learnt to live with the worry. If something happens, it will be dealt will. I have learnt to make lemonade out of lemons. For example, starting a support group for Australians with pten conditions has been a huge success and this has resulted in some great friendships with people who get me.
Suzannah X