After establishing the diagnosis that it is in fact CMMRD a world of questions may arise. How to move on? Please read below.
Treatment
There are no treatments available to cure CMMRD. Next steps are to catch cancer at an early stage and treat if possible. This happens through regular testing in the form of scans, blood tests etcetera.
It is not yet determined how often certain examinations have to occur. Most often it is advised to get a yearly colonoscopy done. Other examinations will depend on the the situation.
Inheritance of a germline mutation in one of the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2 causes a high risk of colorectal and other cancers (Lynch Syndrome). Use of aspirin has been shown to be associated with a reduced risk of colorectal cancer for the general population as well as for MMR gene mutation carriers.
Whenever children diagnosed with CMMRD get cancer they will be treated in the same way as children without CMMRD. Forms of treatment could be surgery, medication (chemo) or radiation therapy. Research is being conducted on if children should or should not get certain forms of treatment. For example, caution must be taken when getting certain types of chemotherapy. The defect MMR system can cause reduced effectivity and increased cytotoxicty. Medication such as Temozolamide, that change cell DNA risk chemotherapy not working quite as it should. Moreover, these types of medication presumably cause a bigger risk on having a second malignancy because they augment the amount of unrepaired mutations.
Screening
In general, tumor screening involves undergoing certain tests to check for tumors before symptoms occur. The goal is to detect tumors at the earliest and most treatable stage. Currently, no common screening guidelines exist for people with this diagnosis. The tumor screening tests should be discussed with a doctor who knows this syndrome well.
Screening tests may include the following:
- Annual or semi-annual full physical exams
- Gastrointestinal tract screening, including colonoscopy, esophagogastroduodenoscopy (EGD) and video capsule endoscopy (VCE)
- MRI exam of the brain
- Abdominal imaging
- Chest X-rays
- Routine blood tests, such as complete blood count
Guidance
It is hard to hear that a child had an hereditary disease that causes an increase
d risk of developing cancer. The uncertainty can be overwhelming and at times too much to process. Therefore guidance by a social worker of psychologist is very much recommended. It might also be comforting to read the experiences of others or get in contact with parents and children who are going through the same thing. At this page you can try and find peers or fill in our contact form and we will do our best to get back to you as soon as possible.
Future
Children and adults diagnosed with CMMRD have an increased risk of developing cancer. However, it is not yet known how high of a risk that is. Another unknown fact is why some children do develop cancer and others do not. Apparently there are other factors that play their role besides the genetic predisposition.
Life expectancy can be shortened, however, this need not be. It depends on the type of cancer and the treatment options.
Having children
Children are likely to be able to get their own children later on in life. These children do have a 100% chance of getting the Lynch syndrome. This
means that when those children are adults they have a 25-70% chance of getting colon cancer and/or uterine cancer.