Rett Syndrome
In Cincinnati Children's “Living with Rett Syndrome” video, I was able to learn about what it is like to have this rare disease through the experiences of 9-year-old Gabby Rodriguez and how it affected her family. Rett Syndrome is a neurological disorder that appears mostly in girls and is caused by mutations on the X chromosome on a gene called MECP2. So a person with Rett Syndrome is usually normal for the first 6 months of their life and symptoms start to become prevalent later on. Other than just affecting speech and motor skills, Rett Syndrome can also cause seizures, gastrointestinal concerns, orthopedic issues, as well as heart and breathing problems. There is currently no cure for this disease but clinics such as the Rett Syndrome Clinic at Cincinnati Children have specialist doctors who work to improve the quality of life of those with the disease. This syndrome makes it very hard to communicate. Gabby’s mom Jody Rodriguez expresses how hard it is for Gabby to communicate because she can not do sign language or speak so her family has to read her body language, and eyes and observe her as communication. Jody says it is especially hard when she is in distress and she cannot make out what it is that is hurting her. By bringing awareness to this condition, they can keep researching and working towards a cure for this syndrome.
Juvenile Huntington’s Disease
In the video "Living with Juvenile Huntington's Disease" from the Huntington’s Disease Youth Organization, I was able to learn about what it is like to have this rare genetic disorder through the experiences of four different families. Juvenile Huntington's Disease is a form of the neurodegenerative Huntington's Disease that typically appears in children and adolescents. It is caused by a defective gene that leads to the breakdown of nerve cells in the brain. While the adult-onset form of Huntington's usually appears in a person's 30s or 40s, the juvenile variation can manifest symptoms as early as a child's elementary school years. In addition to the movement disorders and cognitive decline seen in the adult version, juvenile Huntington's also brings on seizures, behavioral issues, and developmental delays. “HD is a genetic brain condition which results in someone slowly losing one ability after another until they eventually pass away”. All four families expressed that they found out their children had this disease when they started seeing mood changes and a decline in studies. It is super important to spread awareness and show support as it allows those with Huntington’s disease to feel “amazing”, as Elli (A teenager with Juvenile Hungtington’s Disease) says.
Wolfram Syndrome
News on 6 did a video on a Sapulpa girl who is the first person to participate in a Wolfram Syndrome Clinical Trial. Wolfram Syndrome is super rare and currently has no cure. Wolfram Syndrome could have T1 diabetes, go blind, go deaf, have seizures and even die at a younger age. Kadence and her mom never lost hope and in 2022 Washing University School of Medicine conducted a Wolfram Syndrome clinical trial. Kadence will be the first person ever to participate in a Wolfram Syndrome clinical trial and hopefully this will save her daughter’s life and help others with the same syndrome. Wolfram Syndrome was such a rare disease that some doctors have to search it up. Over 500,000 people have Wolfram Syndrome and raising awareness could mean more resources being put into the research and the saving of more lives.