Sojourn means a “temporary or short stay” and thus a good word to describe my 3 day stay in the D.C. area every April for the last 4 years. I join 4 other family members there as part of an ongoing ten year research study of the LiFraumeni syndrome. When my family discovered that we carried the gene, it was both good news and bad news. On one hand, it was good to finally have some understanding of why I have a brother who had cancer at 2, a sister who had bone cancer at 15 and breast cancer at 31, another sister who had breast cancer at 49 and a father with lung cancer at 61. Two survived, two did not. One had an arm amputated and the other a leg. Cancer has defined my family in many ways and it hasn’t been just a “sojourn”. Was it just a bad luck or was there more? Dr. Li and Dr. Fraumeni first named the syndrome in 1969 after following several case studies. We weren’t the only family to have multiple carcinomas and sarcomas. They also discovered the source in a mutation of the P53 gene–a gene that suppresses the development of tumors.
We now know that there is a 50% chance of inheriting the gene if the family carries the mutation, and that is pretty much what happened with my 7 siblings. Four have it and 3 do not. With this new knowledge, our family line will not pass it on. And we are part of this research study to develop screening protocols for those that do have the mutation. So each year we have a brain MRI, a whole body MRI and for the women, a breast MRI, plus blood tests and colonoscopies every 3 years. After 6 years into the study, the researchers have proved that the whole body MRI does detect early cancers in about 10% of the participants, and early enough to prevent the need for chemo or radiation in all but 2 of the participants. With this evidence, they can recommend this to the federal agencies that verify this for insurance coverage by Medicare and Medicaid. Private insurance will then follow.
I write all this to say that at a time when we question our institutions and have a polarized Congress, I am so grateful for our government. As I walked around the sprawling NIH campus and saw the plethora of diseases that are studied and saw the hundreds of patients who are also there to aid the research, I felt a sense of community again within my country. Lots of good people with compassion and a desire to make the world a healthier and better place. I hope we can dwell in that place for a long time.
Here are the “lab rats” as we call ourselves among the April cherry blossoms of our capital.