Coinciding with the World Day for X-linked hypophosphatemia, we spoke with Sonia Fernández, a patient of this same pathology and current president of the Spanish Association of Inherited Rickets and Osteomalacia Patients Association (AERYOH), so that she could tell us, first hand, what this rare pathology involves and what it means to live with it.
Sonia is a 49-year-old woman who has lived with a rare disease for most of her life, although for much of that time, she did not know it. Her story begins when, as a child, she was misdiagnosed, an event that would not only mark her health, but her vocation to help those who, like her, suffer from a rare disease.
X-linked hypophosphatemic rickets (XLH) is a rare hereditary form of renal phosphate wasting disorder. The disease has several symptoms depending on the patient, although the most common ones are rickets, short stature, bowing of the lower extremities, loss of teeth or bone pain... All this, shows an important affectation in the quality of life of these patients with reduced mobility and functional disability.
Several years of struggle later, she is president of the Patients' Association Asociación Española de Raquitismos y Osteomalacia Heredados (AERYOH), whose mission is to increase the visibility of X-linked hypophosphatemia, promote its research and improve the quality of life through early diagnosis and the possibility of receiving adequate treatment.
Uncertainty at the beginning
"At first, I was alone after the diagnosis," Sonia confesses. A few years ago, there was not so much accessibility to data and information about rare diseases, so Sonia had to find answers to all her questions and ended up in a Latin American Facebook group, sharing experiences with other Latino families and five Spanish families who shared a diagnosis and, in turn, many doubts.
After several messages and calls, all those located in Spain decided to "join forces" and create an association with resources that could accompany those who share this condition, but the creation of AERYOH was not even easy. However, the creation of AERYOH was not even easy: "It took us a long time to get it registered, everything was bureaucratic obstacles and a lot of money. We didn't have it, we were very few and without any knowledge of how things were done," recalls Sonia.
"In my case, for example, I didn't come from an easy economic situation. I had had to stop working, my husband also had to help me with everything on a day-to-day basis... It was not an easy situation at all," explains Sonia, who, in addition to taking care of herself, had to look after her young daughter, who also suffers from the disease. In fact, her other older daughter also suffers from the disease.
A curious fact about this disease is that men who suffer from it transmit it to 100% of their female offspring (not to their male children) and women transmit it to 50% of their offspring, whether male or female, since it is transmitted through the X chromosome.
"Over the years, we have become more professional and have learned a lot," says its president proudly. The Association now not only offers emotional, psychological or informational support, but is indispensable to many people's lives, since they now, and relatively recently, provide information, legal advice and financial help for treatments that are not covered by the health system. "It is vital to offer aid for basic services such as a dentist or an osteopath. That improves the quality of life for all patients," he confirms.
He also stresses that the collaboration with some medical disciplines is bidirectional and that many times, it is the doctors who get involved with the association. "Sometimes we organize workshops and informative talks about our disease. Not only to let them know what it is, but to educate in humanizing about what happens to us."
For this reason, and from the Association, they have launched several initiatives, including the first children's story aimed at children with X-linked hypophosphatemia (XLH), a couple of years ago, under the title "Raqui and the relay race".
These workshops, in part, seek to respond to one of the concerns that Sonia highlights most in her day-to-day life: "I feel that education and values have been lost a lot," she says, referring to the lack of sensitivity towards rare diseases in society. "Education starts and is done at home and continues in schools. We have lost focus on the needs of those with rare diseases that are often disabling," she says.
She, a first grader, has experienced this with her daughters, especially the youngest. "Children with hypophosphatemia cannot participate in all physical activities like their peers. They need an environment that understands their limitations and provides support," she explains. For this reason, the Association also promotes educational materials to schools, helping and strengthening education to achieve greater understanding between teachers and students.
Transition to adulthood
Speaking of her own and her daughters' experiences, Sonia reflects on the tough transition from pediatric to adult care. "I'm shaking because my daughter is going to experience that transition now." For many parents, the move to a single physician and fewer checkups is a source of much stress and uncertainty. "I'm very fearful that she may lose quality of life because her health will be impacted by receiving different care than it has been all these years."
"A curious fact about this disease is that the man who suffers from it, transmits it to 100% of his female offspring,
transmits it to 100% of his female offspring (not to his male children). to their male offspring)
and women transmit it to 50% of their offspring, whether male or female,
since it is transmitted by the X chromosome".
"She, until now, has been very well cared for and controlled," Sonia confesses, referring to her 17-year-old daughter, who is undergoing treatment for this same pathology, with very good results on her health. "She, of course, also accumulates that tremendous tiredness when she comes home from school from sitting all day and has to sit down again to study for another three hours. That's why her father and I are very attentive and give her constant massages," she explains.
Sonia compares it a lot with her own case, repeatedly stressing how she and her daughters have faced the disease in different ways. While one of her daughters has been treated since she was a child and is on a very stable path, the other was diagnosed at the age of 28, facing several complications that, over time, have worsened and made her life more difficult.
"The little one suffers from it too, but of course, it has nothing to do with the pain or exhaustion that I can suffer, because she is very young and, in time, she has been able to receive the treatment she needed." Totally in contrast to the older one, who has also had many diagnostic problems, despite her family medical history.
Improvements and hope
Hypophosphatemia is not only a rare disease (prevalence of approximately 1/20,000 worldwide according to Orphanet data), but is, like many pathologies of this nature, a daily uncertainty. Sonia emphasizes that, despite having treatment, the symptoms do not disappear completely, but go "by the day". "Our disease has treatment, but that does not mean it has a cure. Medication helps us to feel better, but it doesn't free us from the diagnosis and the day-to-day pain," she confirms.
Through the AERYOH Association, Sonia and all the people who, in one way or another, work on this project, put a lot of effort into making their reality visible and advocating for adequate and humane medical care. "Almost all of us who work here suffer from the pathology, and yet we continue to work despite having an additional job outside, because we want to have opportunities for improvement. We need to be heard and understood and so we are very very heavy," she concludes, laughing.
