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    Victoria - Tay Sachs

    Victoria - Tay Sachs

     

    Meet Victoria! She is currently 2 years old and suffers from the rare progressive neurological disease called Tay Sachs. Babies with Tay Sachs are born with the lack of an enzyme responsible for breaking down the fatty substances that the brain discards, called GM2 Gangliosidosis. This substance directly affects the central nervous system. The first symptoms appear after 6 months of the baby’s life. There is currently no cure yet, but several countries are working on finding a cure or at least a treatment. Babies diagnosed with Tay Sachs usually have a life expectancy of about 3 to 5 years old. Tay Sachs, as stated before, directly affects the central nervous system. It is a degenerative progressive neurological disease. Victoria does not have motor control, or cephalic, is gradually becoming blind and deaf, is being disconnected from the environment, and suffers from different types of seizures. “Tay Sachs is taking her childhood from her life in a very cruel and early way,” says her dad.

     

    Victoria’s dad calls her a warrior who does not give up fighting. As a 2 year old, she hasn’t gotten to the point of sitting, crawling, walking, or even talking. She loves to be outdoors, having the sun on her face. She enjoys sleeping beside her dad and taking nice, long and relaxing baths. Victoria’s dad has connected to other families affected in the world thanks to social media. Social media is a huge lifesaver for many who are diagnosed with rare diseases. Many families and patients I have interviewed previously all told me how Instagram was a great way to connect with other patients who may have the same disease or a disease with similar symptoms. Social media helps rare disease patients create a family. 

     

    Victoria’s dad told me that their first reactions were heartbreaking. He said, “Our world broke apart, thousands of sensations, knowing that we are carriers of a defective gene, which has no history in any of the 2 families. The fact of knowing that such an illness takes the life of your daughter and you can not do anything is what makes us grow desperate and makes us feel helplessness.” This breaks my heart hearing this. No family should ever have to go through such a thing. 

     

    Everyday is dedicated to her and finding alternative therapies, and also to get the people of the UMassMed in Boston to consider us for the clinical phase. Their daily life is very exhausting. They have not slept for more than 3 hours in a row for more than a year, but that doesn’t bother them. They want to live everyday as if it were the last day with Victoria. They have weekly therapies of kinesiology and stimulation, and speech therapy. They have monthly check-ups with the pediatrician, neurologist, and breathing kinesiology. They do therapies at home and avoid going outside so as not to compromise her immune system.

     

    The cure for this disease is being sought in 4 different countries (The United States, Spain, England, and Germany). There are several foundations that raise funds to finance research. Axovant laboratories based at the UMassMed in Boston are currently in clinical phase in gene therapy with two human patients. A new recruitment is expected at the end of 2019, or middle of 2020. In Argentina, the country of their residence, Tay Sachs is considered an unknown disease and there is no interest in investigating or gaining the knowledge regarding the disease. The lack of commitment and assistance to families with rare disease is “scary.” That sounds horrible. Having a child with a rare disease is a scary thing, and it’s even scarier when you have no support from others. I’m so sorry to hear that their family has to go through such a thing. It’s a frightening experience. “It is our biggest problem, the fact of being alone and not receiving help, just complications, there is a law of rare diseases which is useless. But our daughter does not give up. She is a warrior and that drives us to fight. Her destiny, according to science, is already written but we want to change it,” says the father.

     

    I inquired the dad about financial costs and he told me, “It is very expensive to provide a good quality of life and provide therapies. The social work does not recognize or protect what is necessary. In my country today, the economy is very bad. Argentine peso compared to the US dollar is huge. The fact that investigations are carried out abroad scares us even more, since it is very expensive to pay for trips and stay in foreign countries where our currency is not worth anything.” The father ended up selling his shop in order to stay with Victoria. The mother is a police officer, and after pleading and pleading, she obtained a special service to be able to spend more time at home. It costs a lot for medication. “The vast majority of medication have a high cost. We import and experimental drug from France, which being expensive, is more expensive for us. Anticonvulsants are expensive, but we managed to replace most with homemade cannabis oil, because Charlotte imported from the US at dollar value is also expensive, and social works do not want to cover it.”

     

    They have focused on taking initiative through social media and are fighting now to get on television media, which is difficult because Argentina only sells the yellow press news as important as knowing that there is a high rate of carriers. Children have been dying for decades in Argentina and nothing has been investigated. “We are still fighting the case of Victoria and the disease is slowly coming to light.”

     

    I asked the father, if Victoria could tell the world anything what would she say. He told me, ”Every child that is born deserves a chance to live, which is not a number for statistics, it is a life, it’s life that is at stake.”

     

    “In spite of the sure prognosis, in spite of knowing what the final result will be, we do not lower down our arms. We continue fighting. We face each day as if were the last one, while still loving it and giving it everything so that her stay is as possible as possible. Tay Sachs is a cruel disease that takes away children’s childhood and lives. We need a cure now!”

     

    If you would like to learn more about Tay Sachs, please view the links below:

     

    https://ghr.nlm.nih.gov/condition/tay-sachs-disease

     

    https://medlineplus.gov/taysachsdisease.html

     

    https://kidshealth.org/en/parents/tay-sachs.html

     

    https://www.health.harvard.edu/a_to_z/tay-sachs-disease-a-to-z

     

    https://www.ntsad.org

     

    If you would like to follow along on their journey, please follow them on Instagram @ella_en_329mil.

     

    • Anisha Yellamraju

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