Dariusz Gruchała studies law at the University of Gdańsk. He is blind. A moment before his 17th birthday he lost his sight. Suddenly. Diagnosis: congenital Leber blindness. He was the first in Poland and Central and Eastern Europe to undergo genetic therapy of the left eye, which partially restored his vision. Now he is collecting money for the treatment of the other eye. He needs PLN 1.5 million. - 'I lack words to describe the joy of being able to see something again. Colours and shapes, my loved ones, it's amazing,' - says the UG student.
Darek Gruchała lives in Szumlesie Szlacheckie in Kashubia. Despite many difficulties and adversities, he finished high school and got into university. He is currently in his third year at the Faculty of Law and Administration at the University of Gdańsk.
- 'I decided to study law because it is a field of study that opens countless possibilities for choosing a professional path. Currently, I passed the finals and qualified for the third year, and I chose financial law for seminars and proseminaries,' - says Darek Gruchała.
In the photo, Dariusz, a UG Law student, with a classmate.
As he says, the time spent at the university is very pleasant. The lecturers and students are friendly and helpful towards him. Darek is very grateful to the staff of the Office for People with Disabilities at the University of Gdańsk, from where he receives a lot of help.
- 'The Office rises to the challenge and helps me in every way possible, e.g. by providing me with the necessary books in PDF format, organising training in computer use, lending me the equipment I need to freely assimilate knowledge. But what I am most happy about is that the university offers help in the form of a teaching assistant. Without such a person it would be really difficult,' - admits Darek Gruchała.
Darek spends his free time on hobbies, among which he enumerates history, astronomy, geography, psychology, but also listening to audiobooks and football.
The UG student has always had very poor eyesight. In the first years of his life, he directed his eyes only towards the light. Doctors assured them that he would grow out of it. Unfortunately, this did not happen. As a two-year-old child, he received his first diagnosis - Stickler syndrome. He was to have poor vision for the rest of his life. Before his 17th birthday, his condition worsened and he unexpectedly lost his sight. After another series of tests, he was given a second diagnosis. Leber congenital blindness was diagnosed.
Leber congenital blindness is a rare, genetically determined disease of the eyes. According to statistics, its incidence is estimated at 2-3 cases per 100,000 births. The patient's symptoms from an early age include nystagmus, photophobia, lazy pupil reaction to light and severe visual impairment. Over time the symptoms progress and by the teenage years, patients are considered blind.
- 'When I suddenly stopped seeing we didn't know what had just happened. Doctors said that Stickler Syndrome does not cause vision loss. I was first examined at the Medical University of Gdańsk, from where I was taken to Poznań for genetic tests. In Poznań, I was referred to prof. Krawczyński, who said that it could be Leber congenital blindness. Subsequent blood tests confirmed that diagnosis. I remember this day very well because it was then that I could start dreaming that I would receive medicine that would be a chance to restore my sight,' - says Darek Gruchała.
As it turns out, it is worth dreaming. On May 28, Darek underwent gene therapy treatment of his left eye at the Heliodor Święcicki University Hospital in Poznań. He was given Luxturna - a drug with which a new era dawned in ophthalmology - the era of gene therapy.
- 'Fate smiled broadly upon me. The therapy is not reimbursed and is also one of the most expensive in the world. Currently, the dose of the drug is valued at over PLN 1.5 million for one eye. It turned out to be possible only thanks to the drug distributor, the Novartis concern, which fully covered the cost of treatment of my left eye,' - says Darek.
The surgical procedure was performed by prof. dr hab. n. med. Marcin Stopa. It consisted of injecting medicine to the back of the eye, under the retina. It was the first operation of this type in Poland and Central and Eastern Europe.
- 'The therapy is based on subretinal injection of a drug (Luxturna, voritegene neparvovec) containing molecules of a viral vector. Its function is to deliver a gene coding for the correct protein, the defect of which is present in the patient. It is then built into the genetic material and continuously produces the necessary molecules needed to maintain a normal visual cycle,' - says prof. dr hab. n. med. Marcin Stopa.
As prof. Stopa says, Luxturna drug therapy only needs to be administered once to each eye to achieve a long-lasting effect. Patients who have taken the drug are under constant clinical observation, and according to doctors, their results are extremely promising.
- 'Based on observations, it is known that the best effects are achieved in younger patients, in whom the lesions were not very advanced before the administration of the therapy,' explains prof. Stopa.
Darek believed that the therapy would bring results, although, as he says, it was not certain, because no one before the treatment could guarantee that after the administration of the drug he would see better.
The improvement, and a great one, came almost immediately.
- 'Before the treatment, I could only see that it was either light or dark. Nothing else. I started to notice the first improvement a few days after taking the drug, I was able to recognize shapes and see colours. I can now recognise the shape of houses, farm buildings and vehicles. I can see that a person is in front of me, although I cannot see them clearly, I cannot see any details such as eyes, nose, fingers, etc. I am very happy with the progress, I have no words to describe the joy of being able to see something again after five years, after coming out of the world of darkness,'.
A fundraising campaign for gene therapy for Darek and Kacper (Kacper, Darek's younger brother, a student at the gastronomic school for the visually impaired in Bydgoszcz, who also suffers from Leber congenital blindness) is being held at Siepomaga. The brothers could use all the help they can get.
Is there any chance that Luxturna therapy will be at least partially reimbursed in Poland? Doctors from the hospital in Poznań do not lose hope.
- 'Currently, some hopes are placed in the Presidential Medical Fund, in which funds are to be found for innovative therapies in rare diseases, and gene therapy in Leber congenital blindness is undoubtedly one of them,' - says prof. Stopa.