This article tells the birthday story of Magali Gonzalez Sierra, a 15-year-old girl with a rare genetic disorder, to explain the causes, symptoms, and challenges faced by people with the disease, as well as current research trends, and to highlight the need to find a cure.
On January 16, 2016, a 15-year-old Colombian girl named Magali Gonzalez Sierra celebrated a very special birthday: her entire village was in attendance, and everyone was shouting her name and congratulating her. But there was a special reason why the 15-year-old girl’s birthday party was so big. Magali Gonzalez Sierra suffers from an incurable disease called Hutchinson-Gilford Progeria Syndrome. Also known as zorro, it’s a fatal and rare genetic disorder that causes premature aging in young children. People with the condition age about eight times faster than the rest of the population. That’s why Magali Gonzalez Sierra, who turned 15 years old this year, looks more than 90 years old. That’s why her 15th birthday was something of a miracle.
So, what causes this condition? According to the Zoroastrophy Research Foundation, a mutation in the LMNA gene (Lamin A) is responsible for the condition. A normal, functioning gene goes through a process called expression. Each gene uses the information it has to form the various proteins that make up an organism, which is called gene expression. Similarly, the normal Lamin A gene produces the Lamin A protein, which is the structural scaffolding that supports the nucleus of a cell. However, mutations in the Lamin A gene cause defects in the Lamin A proteins that are expressed, resulting in the destabilization of the cell’s nucleus, which leads to premature aging. However, it’s not known exactly when these genetic mutations occur. It’s extremely difficult to determine the mode of inheritance because people with the disorder don’t have offspring, and because no parents of people with the disorder have been found to have the gene mutation, it’s thought that the mutation occurs just before the sperm and egg are fertilized.
Children with the disorder appear normal in early infancy, but growth retardation becomes apparent around 9 to 24 months of age. They also tend to weigh less for their height. The growth retardation is so severe that the average height of a 10-year-old child with bipolar disorder is the same as the average height of a 3-year-old normal child. Because the facial bones don’t grow properly and the lower jawbone doesn’t grow, people with Zoroastrianism have a very small jaw, which is called micrognathia. The small jaw also prevents the teeth from growing in place, resulting in crowded teeth. The face is small compared to the head, and the front and sides of the skull protrude abnormally. Hair begins to fall out by the age of two, eyebrows and eyelashes also begin to fall out in early childhood. There is also a loss of the fat layer under the skin, which is associated with systemic atherosclerosis, cardiovascular disease, stroke, and hip dislocation. Nail defects, joint stiffness, skeletal damage, and in rare cases, prominent veins on the scalp. What makes this condition so devastating is that life-threatening complications occur in childhood. Patients with the condition usually die between the ages of 8 and 21 from heart disease because their arterial walls are immature, thickened, and lose their elasticity. The average life expectancy of people with sleep apnea is only about 13 years old.
Unfortunately, there is no cure for this dreaded disease. Currently, there is no way to stop the aging process, so research is focused on prolonging life rather than curing the disease. There is no cure for sleep apnea, but with proper medical treatment and care, we can try to extend the life of the patient. For example, Dr. Francis Collins’ team at the National Institutes of Health in the United States has found that an anti-cancer drug that inhibits farnesylation is effective against HGPS, a form of HGPS. However, it’s still in clinical trials.
The difficulties suffered by people with bipolar disorder stem not only from physical problems, but also from mental and social isolation. As they go about their daily lives, many sufferers experience psychological anxiety and loneliness as they see themselves growing up differently from their peers. In many cases, they find it difficult to socialize with their peers and their school life is limited. Due to the lack of social awareness of bipolar disorder, they may also experience discrimination and misunderstanding. As a result, people with bipolar disorder and their families are in desperate need of psychological and emotional support, as well as physical treatment. To this end, support groups for people with bipolar disorder have been established in some countries to provide psychological counseling and social support. Magali in Colombia is one of these organizations, and her family is working with the community to advocate for better healthcare and quality of life.
There is also a growing movement for research and awareness around the world. Various charities and research organizations raise funds to find a cure, and there are international research collaborations. Famous documentaries and movies have featured the stories of children with the disorder, drawing public attention to the condition. The rise of social media has also allowed patients and their families to share their stories and gain support from around the world. These movements are playing an important role in bringing the disease to a wider audience, drawing attention to it and funding for research.
According to the World Tourette Foundation, there are approximately 80 children with Tourette syndrome. These children suffer from a host of complications and fight a lonely battle against death every day. There is an urgent need to find a cure for this disease in order to put these children out of their misery sooner rather than later. However, because the disease is so little known, there has been little interest in developing a cure for it. However, in recent years, people have become increasingly interested in the disease, with dramas and movies featuring people with bipolar disorder. If more and more people pay attention to this disease, we may be able to develop a cure that can help children with bipolar disorder.
