Rare Diseases - Hope for a Brighter Future | Tinatin Tkemaladze | TEDxTSMU
URL: https://www.youtube.com/watch?v=CvQIUZEvfpA Video ID: CvQIUZEvfpA ============================================================ [Music] [Applause] [Music] What is the main goal of a doctor? The main goal of a doctor is to prevent, diagnose, and treat illnesses and support and encourage patients living healthier, fuller lives. All of this depends on one essential step, making the right diagnosis. Moreover, diagnosis should be achieved timely. Otherwise, irreversible damage may happen and the window for effective treatment may be lost. Imagine being a type of a doctor where obtaining diagnosis takes on average six years. A type of a doctor where for most of your patients the conditions are so rare that no one of your colleagues have heard about them. a type of a doctor where many of your patients have diseases for which the cause has not yet been identified and we call such patients undiagnosed. A type of a doctor where for 95% of your patients there is no approved treatment. a type of a doctor where you finally manage to obtain the diagnosis of those remaining 5% of treatable conditions but it's too late. I am this type of a doctor, a clinical geneticist and all of the above mentioned is true for my everyday professional life and the children I see in the clinic. These are the children with rare diseases. A disease is called rare when it affects fewer than one in 2,000 individuals. Some rare diseases are one in a million and others are ultra rare for which only several patients worldwide have been identified. There are over 6,000 rare diseases. 95% have no approved treatment. Over 80% are caused by defects in the genes. 75% manifest in childhood. And 30% of these children never reach their fth birthday. Yes, rare diseases are rare, but collectively they are common and affect world's 300 million people. These 300 million people need our help, need your support to be heard. And this is why I stand here today. Here is the story of two children, Kira and Elvin. Kira was born in 2021. She was hospitalized at two months due to frequent infections, high temperature, and diarrhea. Her blood test revealed she had immuno deficiency. This is when your body does not produce any cells to fight even simple bacteria. Often conditions like this are caused by defects in the genes. We took the blood and sent it to the lab for analysis. After one month, the results were back and she had mutation in a gene called ADA. ADA belongs to those 5% of treatable conditions where we have an approved treatment. I called the parents the same day to arrange the visit for the next day. Over the phone, the parents told me the child passed away a week ago. Elvin was born in October 2024. He was admitted to the hospital due to frequent infections, poor weight gain, and high temperature. and he also revealed to have him in a deficiency. The doctors called me urgently. Dr. Tika, we we need the diagnosis. The child may not leave for a few more days. It was Friday. I rushed to the hospital and we took the blood. On Sunday, Elvin passed away. On Monday, we shipped the samples. Elvin had exactly same mutation as Hira and again it was too late. Looking closer it appears that both families come from the same region of Georgia where most of the residents are ethnic minority as a byanis. Historically they were settled down in 16th century. Since then they remained socially and territorially isolated preserving their culture, religion, language and identity. When we encounter the same recurrent mutation in small subopuls like this, we call it founder mutations. It's like an old secret hidden in their DNA, passed down from generation to generation. Looking at the map, this suggests that there may be more children dying from this treatable condition without ever receiving a diagnosis. Today, ADA immuno deficiency is a treatable and children who receive timely therapy and subsequent hematopoetics tells them transplantation survive and they live full lives. In many countries, newborns at birth are screened for certain genetic conditions, including immun deficiencies. Sadly, in Georgia, newborn screening does not include immune deficiencies, which means children like Hira and Elvin die from treatable conditions. And this is heartbreaking. Here is another story. This time of a sister and brother who have developmental delay, skin manifestations and alopecia. With the help of our dear colleagues from Norway, we managed to perform genetic testing and it revealed mutation in a gene called MSM1. Imagine by that time only five people worldwide had this mutation. In previous patients, special cholesterol supplement and prepared ointment led to remarkable improvements. With charity support, we managed to obtain costly supplements enough for six months. And we started treatment and yes, it worked. The skin improved, the hair started to grow, the weight improved. And we published the successful case in 2023. After joyful six months of successful treatment, the supplements were over. The family poor and unsecure could not continue treatment. After two years since then, the symptoms are back. This part of the story is not in the published paper. The children I mentioned managed to obtain the diagnosis, but there are still so many who remain undiagnosed. This is Hayam. I saw him in October 2024. He had mild difficulty walking, mild speech delay. Last month, his parents called me and said he cannot walk or play or hear or talk. This is Murat. He's two years in this video. He's happy and healthy enjoying the pool. He's seven years now. He's not able to talk or walk or play or smile anymore. He's plastic and paralyzed. Our colleagues from London are investigating their samples to find the cause of the illness. When we when there are populations isolated like this, we often find rare and ultra rare diseases. Doctors, researchers, scientists from all around the world are putting their every effort to find the diagnosis in communities like this. Why? Because some diseases are treatable and we should never miss a treatable condition. Even when the disease is not treatable, the parents want to know what is the name of their child's condition. They want to have future children, healthy children. If we know the diagnosis, we can help them to prevent the recurrence risk. But without diagnosis, this is impossible. Needless to emphasize that study of molecular and cellular mechanism of rare diseases drives precision medicine and enables development of future treatments. My twin sister is a lawyer and she once told me justice delayed is justice denied. The same as in medicine. Diagnosis delayed is life denied. Medicine is a noble profession and service to people is the highest professional, personal and social responsibility. I am honored, privileged to be a doctor and despite all the difficulties, I'm absolutely passionate about my profession. I believe that by raising public and healthcare awareness about rare diseases, by expanding newborn screening, by supporting treatment, and of course by global collaboration, together we can make a difference. Together we are strong. Together we will save lives. Thank you.