FROM PATIENT TO PATIENT HOW TO MANAGE

If you or a family member has been diagnosed with Cowden Syndrome or Bannayan Riley Ruvalcaba Syndrome(or BRRS). you are probably experiancing many different feelings. The predominant one is fear. If you are the parent of the newly diagnosed child you are probably thinking is she or he going to be ok? Is my child going to survive? Is my child going to grow up to be a productive member of society? I should get them medical help, but I don't know what. You will most likely feel some sadness and some guilt that you may have passed this on to them. Even though we all know it is not logical to feel guilty we all do and those feelings need to be acknowledged for you to heal.

If you are newly diagnosed with Cowden Syndrome you will be given a list of things as preventative guidelines for your health to follow. These may overwhelm you and you may not know what to do. Many newly diagnosed patients get the feeling from the literature and from what they read on this site that their body may have cancer anywhere and that they most likely, maybe shortly will die from one of them. You will find when you come to understand the disease that that feeling just isnt accurate or logical also.

 Let us start with some of the feelings and facts about the children. Many of these children are as different as night and day. While there are many commonalities, there will also be many differences. First and formost in case of both diseases get a good general doctor. A type of doctor that does not rush you and has always given you plenty of time. If the doctor you have rushes you out he door in five minutes this is not the doctor that will help you manage.

 In the case of children with BRRS we reccomend evaluations and interventions. Many of these kids have different problems that can interfere with their development and need to be identified. For instance,BRS children can be very smart, mildly retartded or have learning, speech or organiztional problems. If your child appears to you to have a problem early on or later on in not being able to do something other children should be able to do get them evaluated! Many of these kids can get caught up with help as they get older. Some of these children also have weak muscle tone, and if indetifyed early enough intervention may help them eventually do much better. The physical part of the disease with the BRRS children can be quite challenging. These children can quite often grow a lump internal or external and it needs to be evaluated. Only the parent and the doctor together can make the decision on wether to biopsy, observe or remove it.

Polyps in the colon can be a very perplexing thing for parents to come to terms with. If a child without a PTEN mutation were to have numerouus polyps in his or her colon it may be of something of real concern. Many doctors and many parents of children with PTEN mutations do not realize that this may be normal for that child. Everyone makes different decisions based upon their own knowledge and feelings of the treating doctor. Whatever you decide to do make sure the doctor understands BRRS and the fact that these polyps are common. When you get your  plan to manage the facts of polyps or any other physical condition your child may have be sure you are comfortable with the line between what is important for the health of the child and what is important to make sure the child keeps a quality of life. The problem with trying to manage the disease for you child becomes ultimatley deciding how much medical care and intervention you want to give your child. Do you want to be "proactive" as many parents call it and have your child involved in many medical procedures, or do can you find a road somehwre in the middle where things are taken care of and the child can still enjoy his life? Those decesions will have to be made on the big things you hear about BRRS, but there are other "smaller" things you may not hear so much about. Some of the children suffer from vascular abnormalities such as hemangioma's and avm's. These are very hard to get diagnosed correctly, but  they are also a possibility. Decesions about if and how to treat these can be even harder.

 To finalize for BRRS learn about the disease, get a good doctor to help you manage this and learn the various terms so you don't get so afraid if and when something comes up. Most of all, there are many adults who have been in your childrens positions and have come through life fine. With your help, and good medical intervention your child can grow to be a happy, functioning adult.

 If you have been diagnosed with Cowden Syndrome learn the statistics and look at your family cancer history. Use the statistics which are the guidelines for the offical reccomendations for CS and your own family history to begin to check out your health. Keep in mind as you are going through some of these checks such as breast, thyroid , skin ,exc. that many CS patients never experiance any cancer. While you are going through these tests you may be obviously afraid a cancer may be found. Keep in mind a few things. Cancer is not the death sentance it was once was. Many cancers if caught early are highly curable. Noone ever died from Cowden Syndrome, but instead by one of the diseases caused by it. So, while all this knowledge of things that can, but many not go wrong can be scary, it is our power and our strength. While much of the population does not know what to look out for from their genes we do. The diseases you might read about in literature or this site you might never get. The very term "Syndrome" indicates a list of problems that are possible but may not occur. Also if your mother or father had Cowdens Syndrome and were very ill with something it does not mean you will. It all depends upon the depth of the mutation. There are special sets of problems that come with living with Cowdens Syndrome that have nothing to do with cancer. One can be the medical community. Most of us are very careful about our health and tend to listen to our bodies irregardless of a gene defect. Due to that some of us have encountered doctors that treat us like hypochondriacs. Since research is still being done on the disease and new things are being learned everyday any doctor who treats you that way is probably a big risk to your health. If you have a problem check it out. Don't let a doctor hold you back.. Vascular problems are also seen in the adults. Most doctors consider these rare and have never seen avm's, but if undiagnosed in the brain can been very dangerous.

 The adult polyps are not throughly covered in the reccomendations, but most of us eventually get a colonoscopy to see what is there. Everyone has different biopsy results, although the majority results of the polyps are benign. The schedule for how often you may or may not get scoped in your colon or upper digestive area has to be an agreement between you and your gastrointestional doctor, an agreement that satisfies your doctor and your need for a good quality of life. How often can you stand getting scoped?

 There are also other health concerns you may or may not read about such as oral care, growths on the cheek, tounge and gums. Your dentist or ENT can help you with these. Overgrowths can occur almost anywhere in or outside of the body. Just like with the children individual decisons have to be made on each growth or lump. Most of these lumps, bumps, polyps exc. are benign. Do you do an xray? catscan?MRI?leave it alone,? or take it out?. To finish up while life with Cowdens can be exasperating at times you can live with it. Be proactive, Look for those possible diseases without letting it overwhelm your life. Get help with the special problems that go along with the disease. It is not a disease where the patient gets worse as life goes along as some other genetic diseases. With good medical support and emotional support you can live and happy life and you will learn to appreciate each day.