The Importance of Genetic Testing
- Pheochromocytoma, the cancer that killed Jonathan Williamson's wife, Sue, was caused by a gene mutation; genetic testing revealed two of his children have it, too.
- It was not until years after Sue's death, in 2010, that the family learned her cancer was caused by a faulty SDHD gene. Her children were immediately tested, and it was discovered that two of her four children carry the mutated gene.
- Genetic testing can help predict an individual's cancer risk by looking at inherited gene mutations. These results can provide potentially life-saving information for patients who test positive for known mutations and who then can undergo preventative screenings and treatments for cancer.
Jonathan's wife, Sue, died in December 2003 after she was diagnosed with pheochromocytoma, a rare, typically benign tumor that develops in an adrenal gland, 10 years earlier in 1993. However, Sue's tumor was cancerous.
Read More"We continue to push on to find answers for those we've lost, those who currently fight and the future generations to come," he adds.
Sue's Pheochromocytoma Battle
Jonathan and Sue met decades ago in 1971. One year after they met, a tumor was found in Sue's adrenal gland. She had the tumor removed and went on to live a "normal life," her widow tells The Sun.
However, years would pass without either of them knowing that additional tumors were growing inside Sue's body due to a genetic mutation. (Genetic testing was not yet available; in 1996, the BRCA1 and BRCA2 mutation screening became the first genetic test for cancer risk available as a clinical service.)
In 1993, Sue saw a doctor because she was suffering from back pain; it turned out to be from yet another tumor. This time, the tumor was biopsied, which led to a shocking discovery: Sue had pheochromocytoma, and tumors were growing in various parts of her body. While pheochromocytoma typically causes benign tumors, hers were cancerous. And she was given six months to live.
"Sue was in really good health before this happened," Jonathan says. "She had four young children, she was a busy mom and we were living a normal life."
"It was devastating to begin with," he adds, "as she was only given six months to live."
However, Sue was eligible for radioisotope therapy, which involves the administration of radioactive compounds into the blood to target a patient's cancer cells. The treatment would extend her life, and she only needed to have the injections twice a year.
"We were feeling pretty amazing," Jonathan says. "Going from six months to live to a treatment that would keep her alive was incredible. She was able to live a normal life. We traveled, we raised our kids. We did a lot of what we wanted to do when we retired. Life became very normal for us. We didn't discuss her illness very often."
But while the treatment was working to destroy her tumors, it weakened her body in the process. She died on Dec. 23, 2003, at just 57 years old.
"The toxicity of the treatment took its toll," Jonathan adds. "But we lived a good 10 years more together than we thought we had."
SDHD Gene Mutation in Sue's Children
It was not until years after Sue's death, in 2010, that the family learned her cancer was caused by a faulty SDHD gene. Her children were immediately tested, and as previously mentioned, it was discovered that two of her four children carry the mutated gene.
It was further discovered that Jennie and James had inoperable tumors. Jennie's tumor about the size of a golf ball was found near the jugular vein in her neck, while James' tumor slightly larger than Jennie's, about the size of a sausage was found wrapped around his carotid artery; the tumor is inoperable due to its location. (James, however, had five other benign tumors removed from his stomach.)
Jennie had treatment to stop the inoperable tumor from growing, but in 2019, 28 cancerous tumors were found throughout her body; they had metastasized to her bones, just like her mother. (It remains unclear if Jennie's cancer is also pheochromocytoma.) She is now having hormonal treatment in order to prevent the cancer from spreading even further.
It remains unclear whether James' carotid artery tumor is cancerous, or if more tumors have been found since the five removed from his stomach.
"It is what it is," James says of his condition. "We've got this faulty gene, and we're in this situation. But we're trying to make positive steps to find a cure or medication that can help."
"While I inherited mom's (faulty) gene, I've inherited dad's positivity. I have lots of checks, but it doesn't affect my life and I don't have any pain," he adds, "That may change, I may have another form of cancer, but I don't let it affect me."
The Importance of Genetic Testing
Genetic testing can help predict an individual's cancer risk by looking at inherited gene mutations. These results can provide potentially life-saving information for patients who test positive for known mutations and who then can undergo preventative screenings and treatments for cancer.
Should I Get Genetic Testing to Assess My Risk for Cancer?
This type of testing is done to determine if a person has a specific mutation that puts them at a higher risk of developing cancer. It is recommended that when an individual is found to carry a pathogenic alteration mutation, that their blood relatives be informed and have counseling and testing.
So, if you have a blood relative like Jennie and James, whose mother had pheochromocytoma due to a faulty gene that is known to carry a gene mutation, talk to your doctor about genetic testing.
Where Can I Get Genetic Testing?
Genetic testing can be done on samples of blood or saliva, or from a swab of the inside of a cheek. In fact, world-renowned gynecological oncologist Dr. Beth Karlan of UCLA Health tells SurvivorNet that it is as simple as spitting into a tube. The samples are sent to a lab for testing.
Genetic testing for cancer is usually done in a doctor's office (either your primary care doctor or an OB-GYN for breast and ovarian cancer gene mutations), but there are a few tests available for people to purchase commercially.
Where Can I Get Genetic Testing?
How accessible is this testing? Dr. Karlan says it is "getting better and better, and it depends on where they (patients) live. … The way it can be done, it is really with saliva."
If you find out that you have a family member who has one of these mutations, if you live in the same city or state, the people that notified your relatives should be able to provide you with the counseling and saliva kit, Dr. Karlan explains. If you live out of state, she recommends checking out the National Society of Genetic Counselors website; you can visit the website to find a counselor and get the referral from there. The saliva tests, she explains, are "just as accurate as it is from the blood."
However, Dr. Karlan notes that commercially available genetic tests, "what I call 'recreational genetics,' the genetic testing that you can do through the ancestry type of kit," like 23andMe, those tests are "not medical grade and should not be done for this." Instead, seek professional medical advice, such as a genetic counselor.
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