Today is the World Day for Rare Diseases, that is, diseases that affect less than 1 in 2,000 people. Most of these diseases are pediatric and a premature diagnosis opens the door to treatments to stop or slow down the onset of symptoms.
Their low frequency makes them largely unknown to most of the population and makes their detection and correct diagnosis very difficult. This is why patients face an odyssey to obtain a diagnosis and a lot of misunderstanding from society in general and often the medical field in particular.
Today DBGen gives voice to Mrs. Marta Royo, diagnosed with a rare hereditary visual disorder, the aim being that she tells us about her experience in the search for a clinical diagnosis and her struggle to confirm it at the genetic level.
Can you recall your journey, from the onset of your first symptoms, to the clinical and genetic diagnosis?
When I was young, my first symptom was restrained adaptation to darkness. At that time I had periodic eye examinations due to my astigmatism. I went to one of these check-ups with my ophthalmologist in Logroño, but that time the doctor spent much more time looking at my eyes than usual. Finally, he told me that he suspected aberrant clinical symptoms, but that he did not have proper equipment to achieve a precise clinical diagnosis. At the time I was studying nursing at the University of Navarra and he suggested that I go to the university clinic. There, I was diagnosed with Retinitis Pigmentosa (RP). My mother was then told that RP was a blinding disease, and they advised her to keep me at home and drop out of school.
However, regarding the situation my parents would only take an active approach. They arranged a visit at the Barraquer clinic in Barcelona. My appointments in Logroño and Pamplona were in June, and by August I was being visited by Dr. Muiños at Barraquer. Dr. Muiños confirmed my diagnosis of RP and kindly argued that although the evolution of the disease was hardly predictable, he still encouraged me to lead a normal life. I started having check-ups every 2 months, then every 3, every 6 and finally annually. Initially the progression of the disease was slow but at 34yo I suffered a significant visual decline. I was granted a disability leave in the hospital I was working as a nurse.
I was already interested in the subject of genetics and when I started going to ONCE my battle was the genetic diagnosis: why was I affected? If my sister and my parents did not have this condition, why did I? I was always denied a genetic study because I was the only member affected in my family.
In 2010, when DBGen started the genetic diagnosis activity under the name of OrigoGen, Dr. Muiños suggested me to request a genetic study with other family members, my mother and my paternal uncle, as my father had already passed away. OrigoGen ruled out several genes but did not identify the gene causing my disease. In 2022, clinicians from Barraquer encouraged me again to request a second study as many novel genes had been identified. NGS sequencing of the DBGen retinal dystrophies panel allowed to identify the gene that was causing my disease.
After performing a genetic study that came out negative in 2010, you requested a second genetic study to DBGen in 2022. What prompted you to request a second study?
Retinitis Pigmentosa is a rare disease and a the number of causative genes had been continuously growing. Indeed it was in 2008 when the gene causing my visual impairment was reported, and particularly my mutations were described after 2011.
What has it meant for you to receive a genetic diagnosis? And for your family?
It was a great relieve! Now I am delighted to be able to leave this legacy to my family, so that no other member will have to go through this nightmare anymore. My deep advice to families with affected members is this: do not give up on your perseverance to obtain a genetic diagnosis, it is very important. I cannot say that my life has fully changed, but now I feel a lot of peace. I know that my nephews can request an analysis to know if they carry the mutations and prevent their offspring being affected with Retinitis Pigmentosa. I hope and wish they do. I will feel happy knowing that the newborns of the family will not go through the painful situation I did.
Do you think that the genetic diagnosis of vision pathologies receives the necessary impulse and medical attention from health institutions?
No. I think that since they are rare diseases leading to blindness, up to very recently with no effective treatment, they do not get institutional support. Periodical clinical examinations is all you get. You have the feeling that nobody cares about you, because you are going to go blind. Generally, they do not inform you of the advances in gene and cell therapies to raise your hopes of novel treatments. You have the feeling that they don’t care about your suffering. I am a very positive person but it is very hard to go out into the street, facing a problem such as this on a daily basis, and see that most people do not care.
It is very similar to what happens in geriatrics. When you go to the doctor with an elderly person, they tell you that they are simply old. When you go with a rare disease, that there is nothing to do. They ask you to give up. Most of the people I know go to private ophthalmological clinics and many of them have to move, to Barraquer in Barcelona, to centers in Oviedo,… Support from public institutions would generate fewer disabilities and we save health resources.
What improvements would you propose so that the patient and his family receive the necessary attention and support when they have to face a tough diagnosis such as vision loss?
It is difficult to understand why public institutions do not bother to have a registry of patients to inform them of new treatments, new advances. For example, I know that public health institutions have started to do genetic studies. When will patients like me will be considered for a genetic test? I haven’t had a checkup since 2018, and the situation before the pandemic was the same. You always find yourself alone in the face of danger and when you request a genetic study, it is denied if you are an isolated case in the family. If things are moving forward and there is a register with our medical record, why aren’t we notified?
I would ask to be periodically well informed about novelties to improve our quality of life. I would appreciate any support from a public health institution, and the medical specialist advice to move to another place to opt for new treatments». If they leave us on our own and totally unprotected is hard to look for information, pick up the phone, make calls,… On the other hand, once you have already made your genetic diagnosis privately, you have asked for it, you have paid for it, then yes, they are interested in having your medical history, to carry out studies, for example.
As for the diagnosis itself, I know that it is very fashionable to say things point-blank, but in these cases I don’t think it should be done that way. I agree that ophthalmologist have to explain to you that retinal dystrophies are degenerative diseases leading to severe visual impairment but without crushing the patient. I left each medical visit crying, but little by little I made peace with myself.
No one considers that you will need support. I will never forget when at the age of 21 they told me that it would be better for me to give up everything, my career and my life, because I would go blind. Now I am 53 years old and I still see, not much, but I still see. That is why I think that devastating words should be avoided and always leave room for hope. Dr. Muiños never gave me false hope but he always told me «today your vision is here, tomorrow we’ll see». Research is advancing a lot, faster and faster each day.
What I want to convey to the families of those affected is that although sometimes the path is arduous, sad and oppressive, at the end of the path there is a light and those who seek find it. And at the end of the light was DBGen and a final diagnosis.
I cried a lot, a lot, the day Dr. Rey called me with my diagnosis. You don’t know what this means to us. Today I can die in peace. To be able to say to my 96-year-old mother, «Mom, we know the disease gene in the family , and one day there may be a treatment.» is indeed a very great reward. All the years that we have travelled to Barcelona, all our fights, all our struggle, all the crying… have brought us here. Really, thank you very much from me, from my mother, from my husband, you have made me a happy woman, it is like closing the circle.