- “At least half of the three million cases that we have in Spain are undiagnosed,” says Dr. Enrique Galán, Head of the Genetics Unit of the Pediatric Department at the Maternity and Children’s Hospital in Badajoz.
- “Living with a rare disease is tremendously common in the life of a human being and it must be dealt with by using knowledge available at each particular moment”, affirms Dr. Pablo Gargallo Tatay, Head of Medical Genetics at Health in Code.
Madrid, February 28, 2023.- Rare diseases affect approximately 300 million individuals worldwide, and about 3 million in Spain. Of the more than 7,000 rare diseases that have been identified, roughly 80% are caused by genetic alterations. As such, genetic testing plays a fundamental role in identifying them and helps choose effective targeted treatment. “At least half of the three million cases that we have in Spain are undiagnosed,” says Dr. Enrique Galán, Head of the Genetics Unit of the Pediatric Department at the Maternity and Children’s Hospital in Badajoz.
Dr. Pablo Gargallo Tatay, Head of Medical Genetics at Health in Code, points out the importance of making rare diseases visible, “It is a rather frequent occurrence in the life of a human being and, therefore, it is crucial to approach, diagnose, tackle, palliate, and treat them to the best of our knowledge. Hiding the disease in our homes, away from society, was supposed to be a thing of the past; however, it is still prevalent.”
And to make them visible, it is necessary to know more about them. Genetic diagnosis helps distinguish and give name to rare pathologies and, in this way, drive research and secure funding for treatment development. This can provide relief to families living with uncertainty and the challenges of having a family member suffering from a rare disease. In Spain, 20% of patients with rare diseases take more than a decade to receive a diagnosis.
Isabel, a girl diagnosed with KBG syndrome, was fortunate because a genetic test enabled her doctors to confirm her diagnosis. “During check-ups, the doctors noticed that she was below average on growth charts, experienced delayed walking (almost 20 months), exhibited macrodontia, and had difficulty walking… They decided to opt for genetic analysis, which identified an alteration in the ANKRD11 gene,” Isabel’s parents.
KBG syndrome is a rare genetic disorder with a wide range of symptoms, including delayed intellectual and physical development, and behavioral problems such as irritability, impulsiveness, and low frustration tolerance are common. Only a few dozen cases are known in Spain.
Currently, there is no cure for KBG Syndrome, but Isabel undergoes regular physical check-ups to ensure her organs are functioning properly, as the disease can affect the heart, kidneys, liver, vision, and hearing. She also works with a child psychologist to manage her emotions and with a physical therapist to address her physical limitations.
Isabel’s parents note that research on KBG syndrome in Spain is limited, with only one study being conducted by the University of Murcia, which is entirely funded by the Spanish Association of KBG through events and micro donations, “Spanish healthcare system shows a number of weak points in this area, especially when the disease is very rare or not widely studied. The Spanish KBG Syndrome Association gave us information on studies, progress and possible aid, as well as advice and moral support.”
The importance of genetic diagnosis
According to Dr. Galán, who is also a professor of pediatrics at the University of Extremadura and one of the leading experts in genetic testing of rare diseases in Spain, “accurate diagnosis and effective treatment of most cases of rare diseases goes hand in hand with advances in genetics.”
He assures that the Spanish healthcare system is gradually incorporating the necessary tests into its portfolio of services. This is critical, he says, because there is still an unequal distribution of such tests across the different Autonomous Communities.
Moreover, Dr. Galán notes that advances in genetic studies have enabled the diagnosis of many patients over the last decade, and an increasing number of patients will be diagnosed in the future. He highlights that many genetic findings now allow for targeted treatment of some rare diseases.
As for the moment of diagnosis, Isabel’s parents offer words of encouragement to families going through a similar situation, emphasizing the importance of not losing hope: ” We want to tell you not to despair, that it is normal to be afraid when the situation feels overwhelming. Although the path is difficult, we see the fruits of our labor every day as our daughter grows, and every small victory brings immense joy to our home.”
