When did you decide to devote yourself to genetics and focus specifically on minority diseases?
She graduated in Health Biology at the University of Girona and specialized through her Master’s degree in Current Knowledge of Rare Diseases at the Pablo de Olavide University of Seville. There I discovered the administrative part, to which I am currently dedicated as a case manager at the Institute of Pediatrics for Rare Diseases (IPER) at Sant Joan de Déu Hospital. The master’s degree showed me this side that I did not know.
How long have you been doing this job and how do you define it?
Since 2015, I have been working as Patient Director at IPER (Institute of Pediatrics of Enfermidades Raras) and UFIM (Unidad Funcional de Microtia), two units specialized in minority diseases at Hospital Sant Joan de Déu. When I was 24 I finished my master’s degree and became the hospital’s first patient manager. I am a point of reference between doctors and families, and I do everything related to the non-helping part of patients. Families have my contact, phone, email, and patient portal. Sometimes I’m on the phone for a long time with mothers who first ask me about changing visitation and we end up talking about how their baby is doing, how she’s doing, everything. I would sum myself up as a multitasking person: I work as a nurse, psychologist, administrator, secretary, etc. I help families in whatever I can at the hospital.
“I am a point of reference between doctors and families, and I do everything that is not helpful to patients.”
What is your day-to-day work like at Sant Joan de Déu?
It depends on the day, I can say that I rarely have the same day/day routine. For example, when there is a new diagnosis of a minority disease, I accompany the doctor to the visit and come myself. Whether it is the diagnosis of a newborn baby, or a child from three months to 15 years, I am usually at the consultation. The doctor explains the diagnosis to me and I go through the steps that should be followed. I become the contact person in the hospital for the families, I give them information about the syndrome if we have it, and if not I search for it and the families ask me about everything they have doubts, that since the visit was changed the child may be sick or the child has a mass and I do not know what to do. …And if I do not have the answer, I consult a specialist. My patients are children and my channel of communication is always with the parents. Most of my children are disabled and I talk to them with hugs and gestures.
How have diagnostic techniques evolved and what process do families follow?
Cognitive-behavioral diseases of genetic basis in children are a group of chronic minority diseases, of genetic origin, that appear in childhood with significant clinical variation. The first thing a father and mother do with their child is to take him to the pediatrician and explain to him that something is wrong with him. From here they pass through a group of specialists and finally arrive at one of three centers: Sant Joan de Déu Hospital in Barcelona, Val d’Hebron University Hospital and Parc Taulé in Sabadell, which are reference centers for the cognitive behavioral minority. Diseases.
“There are patients who have not been diagnosed because the disease they suffer from may not have been described yet.”
“Flagging a child sick opens as many doors as getting help.”
How do you act then?
In our case when they arrive, we see that many patients have different physical characteristics from their parents, we say that they are patients with dysmorphic features due to the shape of the eyes, ears, height, etc. We can suspect something is there and different genetic tests will be done. If the characteristic features are very clear, a geneticist may go for a specific test to find the disease, but in many cases tests are done to Investigate Like a array array Or exome. In most cases, it takes an average of four years to reach a diagnosis. Although we have different genetic studies to do, there are patients who have not yet been diagnosed, because perhaps the disease they suffer from has not yet been described.
Are there new developments every day?
However, we have 32% of patients who do not have a diagnosis. All the tests we have to this day have evolved a lot: they are more effective, faster and there is more. But until the diagnosis arrives it costs. It’s a complicated process to get to a hospital that knows genetics, has a geneticist or neurogeneticist, and a neurologist who specializes in genetics and knows how to diagnose your condition.
“It’s a complicated process that you go to a hospital where they’re knowledgeable about genetics, that there’s a geneticist or neurogeneticist, a neurologist who specializes in genetics and knows how to diagnose your condition.”
Are you committed to research and research?
If we talk about research into minority diseases, it is very low, and the largest research is always in more common diseases such as cancer or Alzheimer’s disease.
How do families experience this whole process?
Families navigate delicate, unpredictable situations and live with a lot of uncertainty. It’s complicated, and flagging a child’s illness often opens many doors: you can get help, and meet other families with children with the same illness. If the disease is described, it can give you an idea of what can happen at each age. Families search the Internet and find associations of families who have information about this syndrome and who suffer from the same situation. Diagnosing a 4-month-old is not the same as diagnosing a 4-year-old or someone who has gone their whole life without a diagnosis and who in the end doesn’t care, because all the steps they had to take have already been taken, but that’s not the case in… In all cases, it depends a lot on the family. If we diagnose a child after 4 or 5 years and there are only two cases in the whole of Spain, tagging this family will not help much, because it is very rare and sometimes you do not have information and the uncertainty is what could happen itself. The symptoms that the child suffers from must be treated. If the child finds it difficult to walk, we provide treatments to help him walk, and if he finds difficulty eating, we schedule an appointment with a nutritionist to help him eat, for example.
“The bond created with the families is very strong, I am in contact with more than 500 families and in total we have more than 3,000 cases.”
What do you value most about your job?
Caring for families and patients does not mean doing a consultation and that’s it, but doing a complete assessment of the child. The specialists at Sant Joan de Déu Barcelona Hospital try to pack their visits into one day and avoid unnecessary travel. For me it is one of the most rewarding tasks. Sometimes we have families that come from different parts of Spain and often what we do is bring them together on the same day so that the doctor can visit them and if they want to get to know each other. When this happens, correlations start being created, which is very interesting. The relationship created with the families is very strong, I am in contact with more than 500 families and in total we have more than 3,000 cases. The Sant Joan de Déu Pediatric Hospital is very much designed for the well-being of families: there is a slide inside, our gowns are white, but the nurses’ gowns are colorful, and the hospital doors are too, it’s a fun and nice center for families.
What challenges do you face?
When the kids get to 18, we have to transfer them to another hospital, so they go from being big kids to being little adults and then they don’t get the same follow-up. It is a difficult adjustment process both for the families and for me because of the bond that exists and ends for many years.
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