Krzysztof Szczałuba, MD, PhD, works in the Department of Medical Genetics MUW and in the Laboratory of Neurodiagnosis/Neurogenetics at the Children's Clinical Hospital. He is also the Head of the Center for Rare and Undiagnosed Diseases MUW and serves as a consultant in the departments of pediatric and adult hospitals at MUW, where he also runs genetic counseling clinics.
- As a geneticist, am I in the lab all the time? - said the speaker starting the meeting - No, the laboratory is 5-10 percent of my work and the rest of the time I spend with patients.
During the lecture, which took place on March 24 within the walls of the Władysław IV High School in Warsaw, he also argued that genetics is an interesting, dynamic field, and the work through which he is able to help people with rare diseases will always make sense.
From wrist injury to rare gene variant
The fact that rare diseases - despite their name - are quite common has been known for some time. What's more, specialists virtually every day come across changes in genes that can condition these diseases. During the lecture, Krzysztof Szczałuba, MD, PhD, presented the students with a case from just over two weeks ago. A young patient began to develop alarming symptoms of unknown origin after a wrist injury sustained during sports activities. First, the regional pain occurred that did not involve the wrist area, then paroxysmal tremors of the jaw, head and hand. This was compounded by whole-body spasms until doctors diagnosed dystonia. The patient's head CT and MRI as well as EEG results were normal, so epilepsy was ruled out. Genetic diagnostics was then used to find the cause of the symptoms.
- Modern genetic techniques have optimized the approach to the patient - emphasized Krzysztof Szczałuba, MD, PhD.
He also explained that the laboratory performing the tests only reports changes that are rare, unique to the patient. It used to be that what is rare or unique was called a mutation. However, it is now known that this is not always the case. Therefore, differences in genes are called variants or gene changes, and geneticists divide changes into pathogenic, probably pathogenic, of unknown significance, probably benign and benign. In the patient, the study showed a very rare ATP5F1A gene variation of unknown significance.
- I already know what kind of lesion it is, but has it been reported before or not? It turns out that yes, someone has described this disease before, but in adults. But based on three descriptions of patients with a particular rare disease, am I able to tell what the disease is? - said Krzysztof Szczałuba, MD, PhD. And he added: - If we identify a variant and it turns out to be a lesion of unknown significance, then we have to try different techniques and methods to arrive at whether or not it is a mutation.
That's why you have to think innovatively and conceptually in rare diseases.
From bench to bedside
The speaker stressed that the biggest challenge facing genetics, is to translate knowledge and skills into significant improvements for patients. The pillars of effective rare disease diagnosis are the evaluation of laboratory/genetic test results, the assessment of clinical findings, and the establishment of cause-and-effect relationships between them, although, as the speaker stressed, not by force. The reason for referral for testing should also be taken into consideration.
Having already confirmed the genetic cause, the doctor should think about various therapies. Because the patient needs to have his daily life made easier. The treatment of genetic diseases can take place on many levels, and with therapies not necessarily associated with genetics. It is also very often personalized treatment, that is, tailored to the individual needs of the patient. But these are not the only forms of support. The speaker stressed that it is extremely important to bring together families of people with the same diseases, organize meetings where they learn how to live healthily and what can help them, support from therapists, speech therapists, physiotherapists and doctors of various specialties. And also proper doctor-patient communication and doctor-doctor communication.
- When a child with a rare disease comes to me, it is usually characterized by the so-called multi-disease, that is, a great variety of medical problems. Hence, the care of such a patient is multispecialty care and must be comprehensive. I wouldn't be able to do it alone. I depend on people, and people depend on me. The more of us are working on one patient, the better - the speaker emphasized.
The lecture ended with a discussion with the students about, among other things, the possibility of prenatal detection of gene alterations, the prevention of rare diseases, or the use of animal models to establish cause-and-effect relationships between clinical picture and laboratory results.
