More than 70,000 people live with cystic fibrosis (CF) worldwide, and approximately 1,000 new cases of CF are diagnosed each year. Over 75% of these patients are diagnosed before the age of 2, but that was not the case for Darcy's daughter, Vivianne.
CF is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time. People with CF have mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR), which is responsible for encoding the CFTR protein to regulate the movement of salt in and out of cells. The mutations cause the CFTR protein to be dysfunctional, leading to the production of thick, sticky mucus in the respiratory, digestive, and reproductive systems.
Scientists have found more than 1,800 different mutations in the CFTR gene that can cause CF, but newborn screenings typically check for the most common variants. In fact, the American College of Medical Genetics and the American College of Obstetricians and Gynecologists recommend only the 23 most common variants to be included in newborn screenings.
Given that it is genetically-based condition, each person inherits two copies of the CFTR gene. In Vivianne's case, she has one of the most common CFTR mutation variants as one of her copies. However, her other copy of the gene is one of the rarer variants, and thus was not on the screening registry. Darcy explained that Vivianne was officially diagnosed with CF at 9 years old after undergoing whole-exome genetic sequencing.
Vivianne's diagnosis journey began much earlier, as doctors discovered a mutation in her mitochondrial DNA. The genetic variants has not yet been studied, so it is unknown how it fully effects her. Nonetheless, Darcy kept pushing for better care because she felt that it did not make sense for the mitochondrial disease alone to be causing the symptoms that Vivianne experienced.
Darcy praised Vivianne's medical team at the Children's Hospital of Philadelphia (CHOP) for helping them uncover the complete diagnosis. They found themselves meeting with a metabolic specialist at CHOP after Vivianne spent extensive time in the hospital. The mitochondrial department there connected them with several other specialists within CHOP, as mitochondrial diseases can affect all organ systems.
Processing the Diagnosis
Darcy revealed that for quite some time, she had tunnel vision to survive and do whatever it took to find answers. She trusted her gut feeling, as she knew in her heart that something was wrong. Darcy told me that she "relied on faith exponentially" and was not afraid to knock down doors. Their family has been "incredible in supporting and listening, even when they did not understand."
The emotional impact of a chronic illness diagnosis is too often overlooked, so I wanted to acknowledge how Vivianne was able to cope with the diagnosis process. Darcy explained that she was very calm yet aware, taking things as they came. She understood that her mom was advocating on her behalf to uncover all of the pieces. At only 9 years old, Vivianne was thrown into a world of chest therapy, IVs, and sinus surgery. Of course, it was a steep learning curve to adjust to, but "Vivianne has been taking it in great strides."
Vivianne now goes to CHOP every 1 to 2 weeks to receive care from the CF clinic and many knowledgeable specialists there. "The entire organization has truly been phenomenal," Darcy proclaimed. "When you are rare, no one questions it. They help you figure out the problem," for which Darcy credits the incredible research programs.
The Time Commitment of CF
Darcy revealed that Vivianne's diagnosis journey was like a full-time job. She was constantly collecting data, doctor's notes, and making a binder to take to any doctor that was willing to help. At the same time, she was trying to maintain a sense of normalcy for Vivianne.
Even now, CF poses a significant time commitment. Vivianne utilizes High-Frequency Chest Wall Oscillation therapy (or vest therapy) to loosen built-up mucus in the lungs. She uses this for a minimum of 20-25 minutes every night, but up to 4 times a day when experiencing worsened symptoms. Additionally, Darcy spends a few hours every Sunday preparing a pill container for the week.
Darcy said that she also spends time constantly battling with insurance companies, which often do not cover Vivianne's much-needed appointments or treatments if it does not fit in their limited health services codes.
Considering Experimental Treatment
Vivianne currently takes a drug called KALYDECO, an FDA approved medication for CF patients. It works by helping the CFTR proteins facilitate chloride movement in and out of cells in order to maintain a better balance of salt and water in the lungs. Even though it has not been on the market for a long time, Vivianne's doctors felt that her quality of life would be drastically increased with it.
More research is necessary to understand potential long-term side effects of the medication, but Darcy felt that the improvement in Vivianne's quality of life far outweighed long-term effects. Darcy has decided to trust their medical team, and exclaimed that this is the best that Vivianne's health has ever been.
Exercise and CF
Patients with CF are advised to get regular exercise, as it provides many health benefits. Not only can exercise strengthen the heart and lungs, but it can also increase abdomen strength, chest wall strength, and mobility.
Dance has been an integral part of Vivianne's life for several years. Aside from the pulmonary and gastrointestinal benefits that exercise provides for CF patients, Darcy finds that from a mental standpoint, dance is a great outlet for Vivianne. Dance has also seemed to help with the muscle weakness that Vivianne experiences from her mitochondrial condition.
Precautions with COVID-19
Vivianne was used to wearing masks long before the pandemic due to CF. (Darcy actually embroiders the most beautiful masks/other items - you can check them out here!) Pathogens are able to thrive and multiple with greater propensity in patients with cystic fibrosis due to the excess mucus in their lungs. Thus, people with CF are at a greater risk of getting lung infections. Fortunately, her school has been very accepting and accommodating of her condition.
With the additional risk that COVID-19 poses, Vivianne has been very isolated from the world. It is the healthiest she has ever been, but it unfortunately comes at an emotional cost. Her physical health has improved, nonetheless, and Darcy says that this is the best that she has ever felt. Vivianne now knows what it is like to be healthy, which is something that people often taken for granted.
Vivianne joined the Social Distance Squad, a group of young people living with CF. People with CF have to be vigilant about minimizing exposure to germs and viruses, so they were already "social distancing experts." Together, they have created videos sharing tips for being optimistic and connected while social distancing.
The Impact of "But You Don't Look Sick"
Darcy described a change in perspective that occurred after going through this health journey with Vivianne. She finds that she listens and speaks to people differently when she hears them tell a story, because so many situations are unseen and behind closed doors.
Darcy has had doctors tell her, "Vivianne looks so healthy, she is fine" or "if you didn't look at her file, you would have no idea," which is certainly frustrating to hear. From an outside perspective, you may have no idea that Vivianne was diagnosed with CF and struggled with her health.
"They're not with her in the middle of the night when she's having a cough attack. They weren't with her in the grocery store when she had a seizure. They weren't with her when the school called to say her body was covered in hives. It is all relative to your surroundings."
At the beginning, Darcy simply smiled when people told her that Vivianne did not look sick. It was almost a compliment and a sense of normalcy. Then, "there was a period of time when it was infuriating," and this was primarily as Darcy was fighting for more answers. Darcy also felt sorry for people that were ignorant in saying that, as they did not seem to have the empathy to understand the circumstances. Now, Darcy tries to let that phrase wash over her because their opinion does not matter.
Darcy is not looking for validation, but she wants to give Vivianne the best quality of life possible.
"When you're fighting an invisible illness, you deserve the same level of respect."
Discovering the Claire's Place Foundation
Darcy came across the Claire's Place Foundation documentary within a week of Vivianne being diagnosed with CF. The documentary features the late Claire Wineland, founder of the Claire's Place Foundation. Darcy was struck by her exuberance for life; the way that Claire presented herself reminded her a lot of Vivianne, despite all of the challenges they both faced.
On the year anniversary of Vivianne's diagnosis, Darcy thought again of Claire's Place and reached out to Claire's mother Melissa, who now runs the foundation on Claire's behalf. Melissa has been a silent beacon of hope for Darcy, and she felt connected to her.
Darcy love's Claire's Place because they offer financial grants to families affected by CF. Darcy and her family have been able to financially withstand Vivianne's treatments, and she deeply empathizes with people that cannot. She has experienced first-hand the shortcomings of health insurance; there have been a lot of co-pays between Vivianne's medication and being in the hospital 97 times in one year. Darcy does not want families to stop searching for more help because they cannot afford it.
With Vivianne's campaign, they were able to raise over $5,000 dollars for Claire's Place, all of which went towards grants for families affected by CF. She was able to read testimonials from the families that they were able to help and plans to campaign for Claire's Place again in the future. You can learn more about the Claire's Place Foundation at www.clairesplacefoundation.org.
Thank you so much to Darcy and Vivianne for allowing us to share her story in the hopes of raising awareness for Cystic Fibrosis. We truly appreciate your time, honesty, and reflection on what it means to live with an invisible illness.
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