February 15, 2022 – 08:14
Becoming blind turns your world upside down. It happens to Jan-Jaap (47). Due to the (hereditary) eye disease retinitis pigmentosa, he can hardly see anything anymore. Yet he still wants to get everything out of life. Recently, a long-cherished wish came true. He saw the Northern Lights in Lapland with his wife and daughter. “I cherish that I was able to experience this with my last bit of sight, along with the people I love so much. My daughter is a carrier of the same hereditary eye condition. The knowledge that she, like me, can lose her sight hurts me a lot and I want to avoid it.” The family made an impressive journey with many beautiful, but also sad moments. Experience this moving journey on oogfonds.nl.
Jan-Jaap was born with the hereditary eye condition retinitis pigmentosa, this disease affects the cones and rods in the retina. This eye condition is the best-known hereditary disorder of the retina, approximately one in 3000 Dutch people develop this disease. Often resulting in blindness. Jan-Jaap: “In recent years my sight has deteriorated rapidly and I have become almost blind. Because of tube view I look at the world through two straws. My vision is very blurry, like looking through sandwich bags. If you can barely see anything, your world collapses and you lose your independence. Suddenly the realization came: ‘I will not see my daughter grow up’. Fortunately I still saw the birth, but the look in her eyes of sadness or joy I can never see again. My daughter is a carrier of the same hereditary eye condition. The knowledge that she may suffer from the same visual impairments as me hurts me deeply. She currently wears glasses with a high minus prescription. Let’s hope she doesn’t become very visually impaired or even blind in the future, like me.”
From lab to clinic
Prof. dr. Dr Camiel Boon, who works at the Amsterdam UMC, has been researching the mutation in the gene (RPGR) that causes retinitis pigmentosa for years. Unfortunately, this investigation is too late for Jan-Jaap. But for the next generation there is perspective to prevent permanent vision loss. Camiel Boon: “An important question is why female carriers can also develop visual complaints. The development of severe myopia is especially interesting, as is the case with Jan-Jaap’s daughter. The results help to determine in which phase a particular treatment is effective. In addition, it also provides information for myopia research.” The Eye Fund is committed to raising 400,000 euros so that Camiel Boon can start this important five-year investigation.
Keep seeing!
Because everyone wants to continue to see what they love, the Eye Fund is working on a future in which no one becomes visually impaired or blind. That is why the Eye Fund invests in scientific research, in innovation, they provide information and support patient associations in their aim to improve the quality of life of people with a visual impairment. The journey of Jan-Jaap and his family shows the impact of a life without sight. More money is needed for a solution! The Eye Fund has been able to realize the dream of Jan-Jaap and his family thanks to travel organization Nordic.
Watch the impressive journey of Jan-Jaap and his family on oogfonds.nl.
Source: Eye Fund
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Editorial Medicalfacts/ Janine Budding
I studied physiotherapy and health care business administration. I am also a registered Independent client supporter and informal care broker. I have a lot of experience in various positions in healthcare, the social domain and the medical, pharmaceutical industry, nationally and internationally. And have broad medical knowledge of most specialties in healthcare. And of the health care laws from which health care is regulated and financed. Every year I attend most of the leading medical conferences in Europe and America to keep my knowledge up-to-date and to keep up with the latest developments and innovations. I am currently studying applied psychology.
My messages on this weblog do not reflect the strategy, policy or direction of an employer, nor are they the work of or for a client or employer.
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