Genetic Counseling Note: Lynch syndrome is an autosomal dominant condition. This means that a person who carries one copy of a mutation in any of the 5 genes known to cause Lynch syndrome is at increased risk to develop multiple adult-onset cancers, especially those of the colon, uterus and ovaries.
A person who carries two mutations in the same gene of any of the genes associated with Lynch syndrome (MLH1, MSH2, MSH6, PMS2) has a completely different syndrome called Constitutional Mismatch Repair Deficiency (CMMRD). This usually occurs when that person inherits one mutation from the father and the other from the mother. This rare condition is associated with a high risk of early-onset cancers, including childhood onset cancers of the brain and blood. Café-au-lait spots (flat, light brown birthmark-like marks on the skin), are also common.
Erin, thank you for granting this interview. We were very sorry to hear that your 10-year old daughter Isabella – or ‘Bell’ as you called her – died just a few weeks ago of a CMMRD-related brain tumor. First, can you tell us about Bell?
Bell was an energetic, happy girl who wanted to be a nurse when she grew up. She was a social butterfly who enjoyed every moment of her life.
We offered to postpone this interview for a few weeks or months because of what you and your family are going through, but you were interested in doing this now – why?
Because I want to bring awareness to CMMRD, Lynch syndrome, and other inherited cancers, and push for a cure. I never want another family to watch their child take their last breath.
Tragically, you’ve lost 3 of your 5 children to CMMRD-related cancers in the past six years. How did you learn that these cancers were related to CMMRD?
Our son Cody was diagnosed with an optic glioma at age 11, and then at 16 he was diagnosed with a giant cell medulloblastoma. Cody had café-au-lait spots on his skin and his doctors thought he had a genetic condition called Neurofibromatosis Type 1 (NF-1), but he didn’t. Cody died at age 17.
A few months after Cody passed away, our daughter Averi was found to have blood in her stool. A colonoscopy revealed that she had dozens of precancerous colon polyps, and so she had her colon removed at age 14. Two months later Averi was found to have a brain tumor called a glioblastoma and she also had café-au-lait spots. It was suspected that Averi might have a genetic condition called Familial Adenomatous Polyposis (FAP), but she did not. We requested more extensive genetic testing and learned that Averi carried 2 copies of a PMS2 mutation. Averi died at age 17.
Our daughter Bell was diagnosed with glioblastoma last year at age 9, and she recently died at age 10. She also had 2 copies of a PMS2 mutation.
Many people are confused about what is happening in your family, and think your children had Lynch syndrome – but they did not. They have CMMRD, caused when a child inherits two copies of a Lynch syndrome mutation in the same gene. Do you have a personal and/or family history consistent with Lynch syndrome?
No, we don’t on either side of our family. My paternal grandfather had colon cancer at age 82. We have no history of early-onset colon cancer, uterine or ovarian cancer. The childrens’ father and I have not yet had genetic testing, but intend to when our lives settle down a bit.
It's unusual for 2 parents to each carry a mutation for Lynch syndrome.
Yes. As far as we know, we are not related to each other, although we’ve learned that is a common finding in other families with CMMRD.
Have your other 2 children had genetic testing?
One of my daughters has tested ‘true negative’ and does not carry any Lynch mutations. The other daughter has chosen not to be tested at this time. Neither have café-au-lait spots, so we are hopeful that neither has CMMRD.
I’ve heard a lot of people say, “How do they do it?” in regards to you and your family. What is the answer?
I have a lot of faith in God. We pray a lot. My passion is to try to find a cure. God has a bigger plan for us. Hardships bring passion and empathy. We can either hide in the corner or make a difference for another family. We’ve chosen to make a difference – that is our goal.
In a sea of loss, is there anything positive that has come from this experience?
Awareness. And there are so many wonderful people out there that this information could help.
What advice do you have for a person who wants to support a family going through a medical crisis and tragedy?
Be there for them unconditionally. People sent Bell cards and packages when she was sick, people donated money to us – it allowed me to stay home and to take care of, and spend time with, my daughter. Every dollar that people kindly donated changed our lives. The kind words and prayers were so appreciated.
What do you hope people will learn from your story?
Never give up hope. You don’t know how strong you are. Everyone has this strength inside of them.