Interview to Verónica Zofío — Affected by lymphangioleiomyomatosis
Verónica Zofío is the marketing manager of an environmental laboratory. She is 40 years old and was born and raised in La Vall d'Uixó, Castellón (Spain). Six years ago she had a pneumothorax (collapsed lung) during a work-break and that was where it all began: “After a lot of coughing, pricking and a very intense pain in my chest, I went to the emergency room and was diagnosed with pneumonia. I went home but the pain persisted, so I went back to my medical centre and after some X-rays they saw the pneumothorax”. Three years later, during a vacation, Verónica had her second pneumothorax, a crucial event for her diagnosis. “I underwent a MRI after that pneumothorax and the medical team than saw that my lungs were full of bullae or cysts, typical of lymphangioleiomyomatosis (LAM). A biopsy finally confirmed the diagnosis of this rare disease”.
LAM is a pulmonary disease that affects almost exclusively women and that usually appears sporadically in adulthood. This type of LAM (there is another LAM that can be present at birth) is produced by mutations in the TSC1 and TSC2 genes, which generate excessive proliferation of LAM cells. These cysts cause breathing difficulties. Verónica says that her lung function levels have gotten worse in recent years, although she can still manage to have a relatively normal life. "Currently, due to the disease, I also have a renal angiomyolipoma, a benign tumour in the kidneys." Her pulmonologist monitors her disease every 3 or 4 months.
Facing lymphangioleiomyomatosis
Verónica states that coping with the disease is not easy and that she has gone through several emotional phases since she was diagnosed.
“My first reaction after the diagnosis was fear and despair. I kept asking myself ‘Why me?’ Once I had overcome this fear, when I was a bit recovered from the operation and after meeting more women in my situation, I took all the strength I had and invested it in promoting awareness actions to make this disease visible"
"First, I joined the Spanish Association of Lymphangioleiomyomatosis, then I started a personal blog, where I try to provide information and help patients around the world. I also began to increase the visibility of this pathology through my social networks”. Verónica thinks that social networks are very powerful in the case of rare diseases, because they provide a lot of visibility and enable people to contact other people of the community.
“Currently I am a roller coaster of emotions. When the results of the medical tests are not good, I become totally clouded and I am terrified that my lungs will eventually stop working. Then I get better and lean on my husband, my family, my friends, etc.”.
Weaving a women’s network
In Spain LAM affects about 200 women. “These women are my support, my everything. Only they can fully understand how I feel, they comprehend all my emotions”. In addition to having established a network of Spanish women affected by LAM, Verónica is also in contact with women from other countries: North American, Latin American, Australian,… “It is incredible how we all support each other and how these women have become such an important part of my life despite the distance”.
Information to improve diagnosis and disease management
Verónica believes that the medical community should be better informed about LAM. “Our symptoms usually mislead doctors and this delays the diagnosis".
At the patient level, Verónica thinks it is necessary to provide information on how to cope with the disease, both from the emotional and physical point of view: nutritional recommendations, exercise, evolution of the disease... “We need real but optimistic information. For a long time I read many things about LAM that made me feel devastated, there was nothing positive. We must obviously receive information about the chronicity of the disease; we must know that it is progressive and that there is currently no cure. However, it is also important to communicate that there are active girls who go on with their lives, who play sports, who travel... We need references to reflect on to not sink and see that there is life after LAM”.
Interacting with Share4Rare
Verónica knew about Share4Rare through social media.
“I loved the project from the very beginning and I got registered right away with the objective of helping or contacting women in the same situation. Congratulations on your hard work!”
She says she is identified with the objectives of the project, since it targets her needs: visibility, support, awareness, empowerment ... “I also like that the project does not only focus on patients but also on their environment: caregivers, family members, clinicians and researchers”.
When asked how Share4Rare could contribute to cases like hers, Verónica replies: “I think it is a perfect tool to make us visible, to let the world know that we lymphangioleiomyomatosis patients exist. It is also a good forum for the creation of a community around the LAM and for me it is a powerful communication tool. In fact, that is precisely why I contacted you: June has been the LAM Awareness Month. We LAM Women need that the authorities or private foundations invest more money in research to find a cure for our disease. We need support, specialists in our pathology, visibility, guidance, etc. Thank you very much for giving me the opportunity to tell my story in Share4Rare!”
