CASE #574321F – The Ford Family

1. CASE #574321F – The Ford Family Ryan Williams

2. Li-Fraumeni syndrome • Li-Fraumeni syndrome is a rare genetic disease which was passed down from the mother, in this case but can be passed down from either parent. • Li-Fraumeni syndrome makes Marie more likely to get cancer. • Li-Fraumeni is diagnosed when: • Diagnosed with sarcoma when younger than 45 years • A relative diagnosed with any cancer diagnosed when younger than 45 years • Another relative of the same genetic pedigree or lineage diagnosed with any cancer diagnosed when under the age of 45 or sarcoma diagnosed at any age • This syndrome is linked to “germline mutation”, which means that causes mutations of the TP53, the gene responsible for cell growth. (The p53 acts as a program that tells your cells to stop multiplying, but with this disorder, or cancer, the ‘mutant protein’ inactivates the normal protein (the program) and allows the cancer cells to multiply at an uncontrollable rate). This can either arise in Marie’s earlier embryo stages or it was in one of the parent’s germ cells.

3. Pedigree Autosomal Dominant

4. Questions • 1.) Will I pass down my disorder to my children? There is a 50/50 chance that Marie’s children will have the same disorder as their mother due to the fact she has the autosomal dominant disease and her partner doesn’t. • 2.) Should my niece and nephew be tested for this disease? Yes, because there is a chance that Marie’s sibling has the disease and because it is an autosomal dominant disease you cannot be a carrier of the disease, which means if you have traits of the disease you have the disease. • 3.) Are there any ways to prevent cancer in my children if they end up with Li-Fraumeni syndrome? There is no way sure way to prevent these cancers that Marie’s children are susceptible too (breast, leukemia, sarcoma, and adrenal gland). But there are ways to start naturally preventing these cancers such as eating healthy and exercising regularly. They can live a normal life if they take certain precautions and understand what they should do if they find out that they have cancer.

5. Treatment and Suggestions? • The sad news is that there is no treatment for Li-Fraumeni syndrome, as most Li-Fraumeni patients are treated the same as cancer patients due to the fact that Li-Fraumeni syndrome causes more susceptibility to certain cancers which are treated with; chemotherapy, radiation, or surgery. The only way to “treat” this disorder is to know the possible outcomes and types of cancer that you can get and start taking precautions early. This would mean eating healthy, proper exercise, and frequent check-ups. Other than that Li-Fraumeni patients live normal lives but with an increased risk of getting cancer. There is an ethical problem that many people have with, “when do I tell my children?” It is reccomended you tell the child as soon as possible that they have this disorder, and until they can understand that you make sure they are eating right and constantly active. This is due to the fact that the child should know that if they have the disease, how to live with it because it could cause major complications (cancer).