The mutation that changed everything
The mutation that changed everything
10
min read
The symptoms, the blood counts, the energy zaps are unpredictable. Even for the same person, the disease manifests differently over time. “My blood work is always a surprise,” says Linda, a woman who has been living with MF for 10 years. “Sometimes it’s up, sometimes it’s down. It’s like a rollercoaster.” Linda’s symptoms vary from day to day, too, as does her ability to perform various activities.
This is Linda’s distinct disease pattern, says daughter and caregiver Keri, like a one-of-a-kind homemade quilt pieced together with handpicked textiles and a design all its own. And woven into the fabric is a strong family dedication to getting Linda the best care. With the help of Keri, Keri’s dad, her sister, husband, children, and even the family dog, there is a multi-generational commitment to helping Linda maintain a good quality of life. This connection is the golden thread that keeps Linda motivated through the bad times and the good.
Several years ago, Linda and her husband moved from Long Island to Upstate New York to live with Keri and her family. Linda needed the extra support, and Keri wanted to become more involved in her mom’s daily care. Since then, the two have worked closely to notice changes—big and small—that may prompt a call to Linda’s care team.
An extra set of eyes and ears helps Linda manage her MF better. “Living with a person is a big help because they see you every day, every minute,” says Linda, referring to the vigilance with which Keri keeps up with her mom’s health. For Keri, her daily surveillance involves paying special attention to what Linda can and can’t do. “Sometimes it's asking, ‘ Why aren't you doing that. You normally do? Are you feeling okay?”’
Keri can see even the most subtle of changes that Linda doesn’t always recognize. “Remember that night you went to bed at 7?” Keri asks Linda. “That was definitely not one of your normal nights.” Another time, Keri noticed that Linda was struggling to put her socks on. “That’s when I knew something was off,” says Keri. “It was an enlarged spleen.” Keri says her mom is incredibly energetic for 72- years old, but some days, her MF shows. “Sometimes her face gives it away,” says Keri.
When symptoms shift, Linda and Keri contact Linda’s care team at Mount Sinai Hospital in New York City. The care team encourages the pair to share even the smallest of changes, because they might signal a reset in treatment or the need for a transfusion. For example, Linda’s anemia is something they watch closely. “I know when my hemoglobin is low, because I want to take a nap,” says Linda. For a woman self-described as “a force to be reckoned with,” needing to take a nap is a sign that she might need to call the office. If her hemoglobin goes below 7.5, then it’s time for a transfusion.
Fatigue is a symptom that comes and goes for Linda, but when it’s present, it can be overwhelming. To stave it off, Keri encourages Linda to take a “union break,” as she calls it, every afternoon at 3 p.m., with a sit down and some tea. Even the family dog knows the tradition now and leads Linda to her chair around the same time every day.
Linda’s patchwork quilt of MF symptoms also includes occasional appetite loss and bruising easily. The drug she takes has given her neuropathy. “That’s something I have to deal with, and that’s fine, I can handle that,” she says. In recent years, Linda has developed pulmonary hypertension and feels its effects day to day. “That’s part of it, too, and I find it annoying because I can’t keep going.”
Kerri uses one of her favorite New York lines to check-in on her mom. “Every single night, instead of saying good night, I say, You good?” says Keri. “Or Mom might be buzzing around in the kitchen doing her thing, and I’m like, ‘You good?”‘
When Keri was a young adult, she knew her mother had a blood disorder, because Linda always had to monitor her iron levels. It wasn’t until Linda started seeing her hematologist more regularly, and Keri’s life had settled with a husband and two children, that Keri became more involved. She started asking more detailed questions about Linda’s care and eventually encouraged her parents to move in with her and her family. “It became a different kind of closeness,” says Keri of her caregiving relationship with her mom. “I think we’ve gotten even closer through this.”
Their affinity for one another is clear. In conversation, Linda and Keri exude a strong sense of trust and familiarity with each other. They often affirm what the other is saying and feeling, and many times, they finish each other’s sentences. This bond is key to Linda’s good health—a bond that Linda hopes every patient with MF has in their life. If not with a family member, then a best friend, she says. Somebody who “gets you” and knows how best to communicate with you.
“My husband is great in certain instances, but he's very mid-century,” says Linda. “He was raised old school Italian, and he doesn't understand the medical world. He thinks everything is a tragedy. He feels more emotional about it than I do!” Linda says she needs someone like Keri who is on her level. Someone who is sympathetic but can also gather information. “We understand each other,” says Linda. “She sees me every day. She sees the whole picture.”
While she relies on Keri for daily support, Linda says she doesn’t know where she would be without her care team at Mount Sinai. Linda was referred to Dr Mascarenhas at Mt Sinai years ago when her local hematologist recognized that Linda needed more specialized care.
Meet Dr Mascarenhas and the future of MF
“When I finally met Dr Mascarenhas, he made me feel so relaxed and at ease,” says Linda. “He’s very smart and very personable; he made me a part of everything. He said I was an essential part of the care team because without the patient, there was no team.” For Linda, her care team is a powerhouse of knowledge and support. “They are getting me through this. They are family,” she says.
Kathryn, Linda’s nurse, is quick to point out that Linda’s openness about her disease is pivotal to her care.
Kathryn Johnson, DNP, shares her patient-centered approach in MF
“Something that has brought a lot of value to the dynamic is your willingness to share,” Kathryn says to Linda. “Whether that’s about your symptoms or your life, you are engaged and that leads to our success.”
Kathryn also relies on caregivers like Keri to offer their view of the patient’s health during appointments, because as a nurse, Kathryn says she can only see a snapshot of Linda’s day, but Keri sees a fuller view. “Having a caregiver is just crucial to the success of the whole team,” says Kathryn. When Linda talks about the people at Mount Sinai, it’s as if she is talking about a group of old friends. “There’s Makayla the research coordinator, Evelyn one of the nurses on the floor, and there’s the greeter when I walk in the door of the hospital who calls me by name and says, ‘How are you?” Lindasays it’s amazing to her that at a huge hospital in the middle of New York City filled with world-renowned physicians, she feels so relaxed. “It almost feels like home,” she says.
Even with the ever-changing symptoms of cytopenic MF (where she has to monitor falling blood counts), Linda lives life to the fullest. While she can’t always do what she used to, she tries to take everything in stride. When she can, Linda finds a way to participate in family activities while accommodating her MF symptoms.
For example, Linda used to love hiking with her grandchildren, but, she can’t go uphill anymore. Even flat land can be difficult at times. Nonetheless, her grandsons still give her the right of first refusal to go on hikes. “Sometimes I say, ‘Maybe not today’ because I know I may not be up for it, and my counts are probably low. But there are other times when I’ll say, ‘Yeah, let’s go!”’
When she knows she can’t keep up but still has the energy to be a part of the group, she uses a transport chair to keep moving. This summer, the chair gave her the ability to enjoy the county fair with her family. On Halloween, she went trick-or-treating with her grandsons and incorporated her chair into her costume. “I went as a patient. I bandaged my head. I had my arm in a sling. I had a little horn. It was fun!”
Linda says her grandchildren keep her active. “We go fishing. They have baseball and football. It’s always an adventure.” And her son-in-law Charlie indulges Linda’s late-night TV habit. “We watch scary movies and weird stuff together. I’m a night owl and so is he. It’s perfect.”
One of Linda’s favorite pastimes is cooking. “Anything Italian!” is her specialty, she says. “When we have certain families over for dinner, they say they won’t come unless I make my eggplant parm! I just love to cook. It’s an outlet.” Keri loves seeing her mom cook because she knows it’s something Linda genuinely enjoys doing and can still do.
Holding onto the people and activities she loved created a new outlook for Linda.
When asked what piece of advice she would give someone newly diagnosed with MF, Linda says, “You gotta live your life. Take care of your medical business. Talk to your doctors. But don’t think about your MF all day long. You only go around once in life.”With the help of Keri, her family, and her care team, Linda has stitched together a strong network of dedicated people to help her through the ups and downs of MF. “I would not be where I am today without my support system medically and my family. I have my two daughters and my husband and my sons-in-law and my grandchildren, and they are my life. That's what I get up in the morning for and that’s what I go to bed at night for.”
All these unique and important pieces come together to form Linda’s own beautiful mosaic of life. What more will be added to her patchwork quilt has yet to be seen. But for today, Linda feels secure in herself and in the comfort of her community, and that has made all the difference.
