We hear how Italian sisters, Daniella Kilfoil and Loriana Kahts, both in their thirties, were diagnosed with breast cancer two months apart and how it was discovered that they have the ataxia-telangiesctasia-mutated (ATM) gene.
Younger sister diagnosed
Loriana Kaths (34) lives in Bedfordview, Gauteng with her husband and their two children, aged four and two.
Loriana was breastfeeding her 10-month-old son when she felt a lump in her right breast. She thought it was a blocked milk duct.
While at her local GP (her son was sick), Loriana mentioned the lump. Her GP told her to feed off that breast a lot and if the lump doesn’t go down, further investigation will be needed.
A biopsy then was scheduled and two days later, in December 2017, the 32-year-old was told she had hormone-positive breast cancer which had spread to her lymph nodes.
Her treatment included 16 cycles of chemotherapy (4 x adriamycin and 12 x paclitaxel); a bilateral mastectomy (it was recommended though Loriana said she would have chosen it either way); and 30 sessions of radiation. Ten years of tamoxifen was also prescribed.
Due to Loriana needing radiation, immediate reconstruction could not be done. She will be undergoing fat fills later this year.
Older sister diagnosed
Daniella Kilfoil (37) lives in Bedfordview, Gauteng with her husband and their twin sons (6) and daughter (2).
Daniella admits that the only reason she went for a mammogram, two months after Loriana was diagnosed, was because Loriana forced her to go. “I had zero symptoms and was quite flippant about it. I still booked a meeting after the mammogram, thinking I would be in and out. But they picked up tissue that they didn’t like and two days later, I was diagnosed with a hormone-sensitive breast cancer just like Loriana, but only on the opposite (left) breast. And mine hadn’t spread yet,” Daniella explains.
True to Daniella’s character, she found humour in her situation. She joked that she had cancer-lite as her planned treatment was only a mastectomy (she opted for a bilateral) with immediate reconstruction.
But after having an Oncotype DX (a genomic test that analyses the tumour and how best to treat it), chemotherapy (same regime as Loriana) and tamoxifen were added.
ATM gene discovered
Due to Loriana’s young age at diagnosis, she was tested for the BRCA gene (mutations to either gene: BRCA1 or 2, significantly increase the risk of developing breast cancer and ovarian cancer). Though, it was negative.
Then when Daniella was diagnosed, she also underwent genetic testing. Though her test covered 23 genes while Loriana’s only covered 11. Daniella was also negative for the BRCA gene, but positive for the ATM gene. Subsequently, Loriana was then tested for the ATM gene and it came out positive.
The sisters then sent their parents for testing and it was found that their father was the carrier of the ATM gene. The advice given to him was to have regular screenings for pancreatic, colon, endometrial and prostate cancer.
There is a fifty percent chance of the gene being passed down to their children, both boys and girls. “We just have to be diligent in early monitoring (from the age of 22),” the sisters explain.
When Loriana started chemo, Daniella went with to every session. Then when Daniella started chemo, they had armchairs hooked up together. Coming from an Italian family, they made it a family affair. At times, both their husbands were there and their parents would pop in. They made it a joyous occasion: dancing and joking with the nurses and other patients.
All the fun and laughter made their side effects more bearable. Both sisters lost their hair and suffered the usual side effects.
Daniella adds, “You can actually taste how toxic you are. My husband said he could smell the chemo on me at night while we were in bed.”
The sisters confess this has only made them closer. “I think when you’re siblings and going through the same thing, you’re really in it together,” Loriana says.
Daniella had no doubt that her sister would be fine. Loriana had the same belief about Daniella, though she admits, “It was awful when I got the news. Her diagnosis rocked my world. But, I just got on my phone and started making appointments for her.”
Family support was immeasurable for them. Both had to care for their young children; this is where their mother stepped in and eased the situation.
Naturally, their parents didn’t take the news well, but because they made “the best of the situation, making it a fun event, this normalised it for our parents.”
Plus, both sisters say their oncologist played a major role. “She honestly fought this fight with us. Step by step. She has become an incredible friend. Your relationship with your oncologist makes all the difference.
About the ATM gene
by Noelene Kinsley
The ataxia-telangiesctasia-mutated (ATM) gene makes a protein that helps control the rate at which cells grow and divide in the body, and is also involved in DNA repair. Abnormalities of this gene lead to cancer growth.
Women that are ATM-mutation carriers have a two to four times greater risk of developing breast cancer (up to 52% lifetime risk), with the average age of diagnosis around 45 (does span an age range from 20s to 80s).
About 0,5% to 1% of the general population is ATM-mutation carriers. This is more common than BRCA1 and BRCA2 gene mutation carriers. Unlike the BRCA1 and BRCA2 genes, there is no increased risk for ovarian cancer. Other cancers associated with the ATM gene carriers include pancreatic, colon, endometrial and prostate cancer.
Knowledge of an ATM mutation in a family is important to access enhanced cancer screening and appropriate preventative options. The recommended risk management choices are usually in keeping with the individual’s personal and/or family history of cancer. It is best to discuss this with a genetic counsellor or your treating oncologist.
The ATM gene is also associated with a childhood disorder called ataxia-telangiecstasia, which impacts the nerve and immune systems and associated with an increased cancer risk. The difference in inheritance is that a child would need to inherit a mutation from both parents to have the condition.
MEET OUR EDITOR – Laurelle Williams
Laurelle Williams is the editor at Word for Word Media. She graduated from AFDA with a Bachelor of Arts Honours degree in Live Performance. She has a love for storytelling and sharing emotions through the power of words. Her aim is to educate, encourage and most of all show there is always hope. email@example.com