CDH1 mutation carriers need a large support team. Finding out that you have a CDH1 mutation is scary and complicaled news. For CDH1 carriers who find out because they have stomach cancer or breast cancer, the news is scary and complicated for obvious reasons. Not only do they have an illness with a potentially oor prognosis, they most likely have to break the news to their family that they might have the same mutation. This is not easy news to share.
In contrast, many CDH1 mutation carriers find out they have the mutation but are otherwise healthy. Naturally, this causes anxiety over whether they have already developed stomach or breast cancer but don’t yet know it. Moreover, soon after learning that you have a CDH1 mutation, you learn that the procedure for determining whether you have developed gastric cancer is not effective and that the survival rate from the cancer is low. Plus, the next thing you learn is that the recommendation from the worldwide medical community is to have your stomach removed. No stomach tissue means you can’t get stomach cancer.
Wow. That’s a lot for someone to process. Especially when they probably have a family member who is dying of stomach cancer or who has recently died of stomach cancer. They also likely have multiple siblings, aunts, uncles or cousins who also have the mutation and are deciding whether to have their stomach removed. Or maybe they are already recovering from their surgery.
Furthermore, life around you does not cater to you just because of the news that you carry a CDH1 mutation. Things that were broken before the news will remain broken. For instance, if you are hurting from a recent loss, the pain doesn’t pause just because you learned you carry a CDH1 mutation. If your job was dysfunctional before you got the news, it will stay dysfunctional after. If you have financial challenges before the news, they won’t disappear just because you learned you have a CDH1 mutation Let’s face it, we all have at least some pressures or imperfections with our lives regardless of our genetic status.
Therefore, having a community of people to turn to for information, advice, and encouragement is critical. They will help you gather information, make decisions, and stay sane! Luckily, most of the community you need as a CDH1 carrier already exists. Several hospitals across the United States have medical teams comprised of doctors from multiple disciplines who focus on CDH1 mutation carriers. Also, you should join the Facebook group for CDH1 Mutation Carriers. It is comprised of experienced, friendly and informed members who will answer all your questions and more. Plus, you likely already have family and friends who you can turn to for support.
Who Should Be In A CDH1 Mutation Carrier’s Care Team?
In 2015, a team of nearly fifty of the most informed CDH1 healthcare professionals from all around the world published the 2015 guidelines for the clinical care of CDH1 mutation carriers. In the 2015 guidelines, the authors addressed this exact issue. They advise: “In the management of individuals with a CDH1 mutation, a full multidisciplinary team (MDT) should be involved comprising those with relevant expertise in gastric surgery, gastroenterology, breast oncology, pathology, psychosocial support and nutrition.” Similarly, another publication suggests the same thing: “All patients were presented and discussed in a multidisciplinary team meeting comprising oncologic surgeons, medical oncologists, gastroenterologist, clinical geneticist, radiologists, and nutritionist prior to treatment.”
Reinforcing the need for a multidisciplinary team of doctors, past medical discussions concerning CDH1 mutation carriers has spanned a wide array of disciplines. The 2015 guidelines describe how past discussions: “were focused on five major topics: (1) genetic counselling and mutation analysis; (2) endoscopic surveillance and screening of cancer; (3) risk-reduction surgery of the stomach and breasts; (4) pathological specimen processing and diagnosis; and (5) patients’ and dieticians’ perspective.”
Among other areas, too, the 2015 guidelines highlight the need to address psychosocial effects of being a CDH1 mutation carrier: “(1) coping with cancer risk; (2) practical problems (such as obtaining life insurance/loans and employment when found to be a mutation carrier); (3) family-related problems (eg, communication problems with family members, feeling responsible for family members); (4) children-related problems (eg, concerns for children having increased risk, fear of leaving young children); (5) living with cancer (eg, fear of developing cancer, pain about the loss of family members) and (6) emotions (eg, anxiety, anger, feelings of loss, but also relief and reassurance).”
Additionally, at least one publication recommends that CDH1 mutation carriers talk with other CDH1 mutation carriers who have already contemplated having a total gastrectomy. They write: “Contact with other patients who have been through this process can be very useful in our experience.” The Facebook group for CDH1 Mutation Carriers may be your best resource. Plus, another resource could be any family members you have who also carry the CDH1 mutation.
The multidisciplinary team should also include family and friends. This is based on my personal experience. You should have a group of people surround you who is drama-free, fun to be around, and understanding of your situation. Whether they live in your city or not, be sure to stay in touch with people who make you feel good. Having a positive attitude will help way more than you realize. One of the best ways to stay positive is to regularly interact with people who make you feel positive. Seek them out and interact with them.
Is Such a Large Care Team Really Necessary?
A CDH1 carrier needs such a large care team because this is a multi-faceted condition that lasts a lifetime. You will not find all the support you need from just one or two individuals because it is impossible for one or two people to have all the information, skills, and support you need. Rather, it will require a large care team comprised of close family and friends, skilled and informed strangers, and everything in between.
Your CDH1 medical team will advise you on all things related to having a mutation. For instance, on whether and when to have a total gastrectomy, how to screen for gastric and breast cancer, whether to have an open or minimally invasive total gastrectomy, what life is like after surgery, whether to have mastectomy surgery, how to address family planning issues, and more. It is critical that your CDH1 medical team be comprised of doctors from multiple disciplines who all have experience working with CDH1 mutation carriers. Specifically, the team should have a gastrointestinal oncologist, gastrointestinal surgeon, geneticist, nutritionist, pathologist, radiologist, and cancer psychologist.
It is critical that your medical team have experience working with CDH1 mutations. For instance, about genetic counseling, the 2015 guidelines say: “Genetic counselling is an essential component of the evaluation and management of HDGC. The counselling process should include a formal genetics evaluation by a cancer genetics professional with expertise in the field. The evaluation should include a detailed three-generation family pedigree, histopathological confirmation of DGC diagnoses and/or precursor lesions (in situ or pagetoid spreading of signet ring cells) and a discussion on lifetime risks of developing DGC.”
Also, about surgeons, the 2015 guidelines recommend that one way to evaluate a surgeon is based on the number of total gastrectomies they have done. They say: “According to literature, the learning curve for total gastrectomy is 23 procedures.” Number of total gastrectomies, however, should be just one thing you consider among many. For instance, you should also feel comfortable with your surgeon’s training, experience with gastric issues other than total gastrectomy, outcomes of recent surgeries, reputation from other doctors and patients, the feeling you get after meeting them, and possibly other factors.
The 2015 guidelines also recommend working with a nutritionist who has experience working with CDH1 mutation carriers. They say: “Experienced dieticians focus on nutritional problems and strategies for maintaining weight after surgery.” Moreover, nutritionists experienced working with CDH1 mutation carriers will know how to monitor nutritional status in people who do not have a stomach. For instance, they will know to focus on whether the patient is absorbing enough vitamins and minerals, like vitamin B12, iron, and calcium, that people without a stomach tend to not absorb.
Another example is the pathologist. The 2015 guidelines recommend working with a pathologist experienced with hereditary diffuse gastric cancer. They say: “Biopsies from potential carriers of a CDH1 mutation need careful evaluation by a pathologist with experience in the pathology of HDGC.”
Pathologists experienced with CDH1 mutations will be more effective than those who are not because they will know the tricky nuances that come with this condition. For instance, the 2015 guidelines say: “Criteria for the identification of signet ring cell lesions should be strictly followed in order to diminish the risk of overdiagnosing non-specific changes and to distinguish them from lesions that mimic SRCC or precursor lesions. In the gastrointestinal tract, various benign ‘signet cell-like changes’ may mimic SRCC (see online supplementary figure S1).85–88 Therefore, confirmation of focal signet ring cell lesions in the stomach by a histopathologist with experience in this area is strongly recommended.”
Moreover, they say: “The pathology of HDGC is unique but not easy to recognise. Experience in this pathology is needed to provide high-quality diagnosis, both in biopsies and in resection specimens.”
Finally, to hammer the point home, they say: “It is pivotal to examine the full gastrectomy and full mastectomy specimens of CDH1 mutation carriers to determine the stage of cancer and additionally to better understand the phenotype and biology of this disease. Experience in the examination of prophylactic gastrectomies for HDGC is quite limited in most pathology departments due to the rarity of these surgical specimens. Additionally, the routine workload of most centres is incompatible with performing the detailed examination of hundreds of sections typically obtained after totally embedding these stomachs.”
Not only is an experienced medical team critical, is talking with other CDH1 mutation carriers. They will help you answer questions about what life is like as a CDH1 mutation carrier. For instance, they can advise you on when and where to get genetic testing, which hospitals have experience treating CDH1 mutation carriers and how to find a good fit for you, and what life is like after having a total gastrectomy. They will also help you answer questions relating to family planning, health and life insurance, genetic testing of minors, why water might be difficult to drink after gastrectomy, and more.
It is helpful to get a wide variety of CDH1 mutation viewpoints. Talk to mutation carriers who have had a total gastrectomy, those who have not, and multiple groups of doctors. Talk to men, women, people of all ages.
You can also search youtube and instagram for people documenting their lives after total gastrectomy.
One of your greatest resources should be the Facebook group for CDH1 Mutation Carriers. In the group’s newsfeed, CDH1 mutation carriers share information about anything and everything related to CDH1. You can view recent discussions, browse the history of discussions, and search for targeted questions and answers. Also, other CDH1 mutation carriers will answer your questions and even raise issues you had never even thought of. It is a very informed, welcoming, and helpful group.
Family and friends will provide you with emotional support. They will assure you that everything will be okay. Make you laugh. Distract you from your serious thoughts. They will make you feel like you. Although your medical team and fellow mutants are critical, your family and friends are perhaps the most important part of your care team. They help you in your day-to-day life, when making big life decisions, and they know you best.
For more information about CDH1 Care Teams, watch this video to learn more about the incredibly amazing care team of doctors at the University of Chicago. They’re a major part of my care team. Also, at the end of the video, two patients tell their stories.