Patient story. Importance of detailed medical and family history in diagnosis. 13

Patient story. Importance of detailed medical and family history in diagnosis. 13

Patient story. Importance of detailed medical and family history in diagnosis. 13

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Is there a patient story you could discuss that illustrates some of the topics that we discussed today? You mentioned one patient story, which is very interesting, for retinal vein occlusion. You had a whole series of patients. Is there any other patient story you would share with our viewers? Well, I think of the patient stories every day. Because you have some stories, it's not enough time to explain all of these stories. I just have one patient story. But I think that's our everyday practice because every patient is a story. And sometimes, a diagnosis is quite easy to solve, but sometimes a clinical case takes a long time to solve. And I had a boy, eight years old, who was referred to me for conjunctivitis. When I saw conjunctivitis, which is unusual, you know? Well, usually, they don't refer to me conjunctivitis in a tertiary center. Because it's supposed to be treated very easily, and this child had two tumors in the conjunctiva on both sides. It was the first time I've seen that. So his father went there. And it was like a tumor with vascularization, but it was very strange, like a blackened granuloma. And I discussed with his father, and we discussed that. He said we had seen the tumor for six to eight months, just growing first in one eye and after in the other eye. And I said, does he have any problem? No, no, everything is good. And no problem. And I just saw the father, and I said, you have here a strange face. And I say, Did you have any problems? Because I see. He said, Yes. I have problems. I had a removal of both parotid glands. Yes, I was an 11-year-old, and I remember that. And my mother said that I had Kimura disease. Okay, right. So, Kimura disease is not supposed to be genetic. And Kimura disease is also supposed to occur in Asian patients. He was from Normandy. So he was not, of course, not Asian. The mother was from Asia. And so we discussed the situation with his son. I removed both tumors in the child. And this was a Kimura disease. So when you just ask the parents, when you discuss with them, when you take the time, we can solve the problem. The problem is that the child had Kimura disease. He then developed kidney problems. And so he had a very heavy treatment, but he is well at the time. But at least we had the correct diagnosis. And so that was very important. But it was very important to have a clinical story correctly because probably the pathologist would not be able to make Kimura disease diagnosis so easily without having this history of the parents. This is a very important illustration that it takes the complete story to arrive at the correct diagnosis. It is not just the pathology examination, not just the surgeon. Also, it takes a very astute expert who is aware of sometimes very rare diseases to arrive at a diagnosis in a timely fashion. So we they need to take time with patients, to discuss with them, to take time to phenotype [establishing all signs and symptoms of disease]. And after that, we go to genotyping, but all of these are very important in the diagnosis and treatment. Thank you, Professor Dominique Brémond-Gignac. Is there a topic or question that I didn't ask but should have asked? Is there anything else in your experience, in your life that you'd like to share? No, I think we are here to cure patients, to take care of them. And to give most of the clinical guidelines for the diseases we know more about than others do. And so we can keep this way for patients. Thank you very much for this very interesting conversation! We hope to revert to you in the future on the progress of gene therapy of common myopia, nearsightedness, retinal eye diseases, the anterior eye problems. There is so much! I very much appreciate this conversation, and I'm sure everyone will find that very useful. Thank you very much! Thank you, Anton, we keep going!

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