Working to unravel a family’s genetic mystery
Edgewood resident, Michelle Cobble, first saw the staff of the Maternal Fetal Center for genetic testing in 2010 when she was initially diagnosed with ovarian cancer. Those initial test results for a mutation related to ovarian cancer came back negative. But, when her cancer recurred last year, she was back at the center again for additional testing, in the hope of tracking down the genetic cause of the cancer that has plagued her and at least two other family members.
Fortunately, today Ms. Cobble is cancer-free. But, she still hopes to use the center’s resources to track down the apparent genetic cause of her family’s predisposition toward ovarian cancer. She said she has utter faith in the abilities of the center’s staff to help her get to the bottom of her personal genetic mystery.
“The counselors are wonderful. My Genetic Counselor is Jody Wallace,” Ms. Cobble said.
“She alleviated a lot of the fears I had when I was originally diagnosed, and then again when I had recurrence. She is very good at delivering complex information.
“It is scary to have genetic testing done because you don’t know what you’re going to find out. Jody helped me to understand that the testing will not change anything -- other than your knowledge. And honestly, I would much rather know about it (possible genetic mutations), so that I can inform my children, grandchildren and other family members.
“I think what I’d want the big take-away to be is that having testing done is not only something you do for yourself, but also for your family and future generations.
“I always have that link to Jody, which I find very comforting. We do keep in contact. She is part of my healthcare team and her input is very valuable. If I need to talk to her, she is very easy to reach, which is important. I can’t imagine what I would do without her looking out for the best interest of me and my family.”
Staff support and knowledge were pivotal
Five months into Dr. Neel and Debbie Desai’s first pregnancy, their worlds turned upside down. That’s when an everyday ultrasound revealed that there might be something terribly wrong with their unborn son: The long bones in the unborn child’s legs failed to show up in the images.
The very next day though they were in the capable hands of the staff of the St. Elizabeth Maternal Fetal Center, where the first of many tests would be performed to both, determine what their baby was suffering from, and how it might affect all of their lives.
Within a few short weeks, it was determined that little Ethan would be born with a genetic disorder known as Osteogenesis imperfecta* or brittle bone disease. Immediately, the couple began working with the center’s staff to plan how best to deliver the fragile infant, as well as prepare him and his parents for the challenges ahead.
“It was a very difficult time, to say the least,” said Mrs. Desai. But, Genetic Counselor “Jody (Wallace) was there from the beginning to give us information and she was just extremely helpful and straightforward. …
“When the (genetic test) results were definitive … well, we sort of latched on to Dr. Donna Lambers at that point, and I mean, her demeanor and everything about her just made you feel really comfortable with her and confident in what she was saying and that she would be able to help us.”
As the couple’s now rambunctious 4-year-old played “Incredible Hulk” nearby, Dr. Desai – a Ft. Mitchell Family Practitioner – reflected on how valuable the support and knowledge of the center’s staff was to him and his wife in those early days of dealing with their son’s disease.
Dr. Desai said the whole experience has not only prompted the couple to become very involved in education about Osteogenesis imperfecta, but also changed the way he approaches the very practice of medicine. He says he has truly learned the value of having a medical professional who is both highly informed and supportive of each patient and their loved ones.
“They (the center’s staff) are very supportive and very proactive in helping families get the support they need, too. … And Jody was just very professional and realistic and practical. …
“So this has changed what I do as a physician. It’s given me a new perspective on things – I don’t dismiss things as much as I maybe used to, but at the same time I’m a lot more balanced and realistic.”
“And,” adds Mrs. Desai, “we have since referred a lot of people who ask us who we see. We send them to Jody and Dr. Lambers at the center.”
*A genetic disorder characterized by fragile bones that often break easily with little force.
Staff invests their hearts and minds into patients
Though Registered Nurse, Kelly Ervin-Berberich works at St. Elizabeth now, back in 2002 when she was expecting her daughter, Olivia, that wasn’t the case. But then, a complication in her pregnancy brought her to the St. Elizabeth Maternal Fetal Center, and soon the Hebron mother of four knew that St. Elizabeth was the kind of exceptionally supportive place where she wanted to work, too.
Mrs. Ervin-Berberich was first sent to the center that fall after learning that her blood antibodies did not match those of her unborn daughter. She was, in fact, actually making antibodies against her baby’s blood. It was a potentially deadly situation that demanded the skills and continued monitoring of the Maternal Fetal Center staff.
But Mrs. Ervin-Berberich said the center’s staff provided much more than professional expertise and attention. They also gave her their hearts and undying support.
“Every week I’d go there and they would always say, ‘Come on, you can make it to next week,’ even though they knew my chances of delivering a full-term, healthy baby were slim. The people who worked there really became my friends, and they invested their hearts and emotions into my situation. … They made me feel comfortable and held my hand and cried with me even – they’re just incredible women. …
“Then, when I delivered a very healthy baby girl, I continued to come to the hospital once a month just to have lunch with all those women who helped me so much and spent so much time with me.
“They really inspired me. I wanted to be a nurse anyway, but they inspired me and made me see that this is a good place to work, where people really invest themselves into others. …
“Now that I work here, I see them often and I always show them pictures of Olivia. She just turned 10, in fact, and she asks me even now if I still talk to my friends at the hospital. So, one of these days after school is out, she and I are going to go together and have lunch with them. … They’re just part of her birth story.”
The nurses that took care of me and my newborn during my recent delivery were absolutely amazing! My husband and I recently had our first born son and it was the best experience that we could have asked for. The nurse that we had during my labor, Erin Cleves, was absolutely amazing! She went above and beyond to make sure I was comfortable and answered all of our questions with patience and never once made us feel stupid for asking a million questions or for not knowing the answers already. My entire family still talks about her and how great she was for us! Unfortunately her shift ended right before I went into labor so she wasn't there to go through the entire experience with us from start to finish.
The next nurse we had was Michael Ann and she was just as great! She stepped right in and didn't skip a beat! She was there to help deliver our baby and made the experience a very relaxing and peaceful one. It was so nice knowing that the nurses really do care about you and your baby right away.
~ Erin Schmidt, Patient