Progeri Hutchinson-Gilford Syndrome

Progeria, also known as Hutchinson-Gilford syndrome, is a progressive genetic disorder that causes children to age rapidly. Not only is it extremely rare, but there is no cure for this chronic condition. This hereditary disease affects the musculoskeletal system and the vasculature system (Mayo Clinic).
There are numerous signs and symptoms for this disorder. Within the first year of life, the child may be growing slowing. The motor development and intelligence will remain normal at this time though. The child may have a narrowed face, thin lips, a small jaw, beaked nose. The child with this disorder may have a rather larger head for their face. They will have incomplete closure of eyelids along with prominent eyes. They will have a lot of hair loss of their head, eyelashes, and eyebrows. Their voice may be high pitched, and the veins in their skin will be visible. Their skin may also be spotty or wrinkly and become tight on the trunk. A child with this disease will be slow in growing their teeth and have abnormal teeth formation. They may have a loss of fat under the skin.
Also, they will have some hearing loss. Their bones may be fragile, and their joints will be stiff. Often times, the child will have a dislocated hip and resist insulin. Lastly, they will have progressive heart and blood vessel disease (Mayo Clinic). This disease is caused by a mutation in the lamin A (LMNA) gene. This mutation is in sperm before conception. All cases of progeria begin from the substitution of one base pair among nearly 25,000 DNA base pairs in the LMNA gene. The mistake in the gene causes it to make an abnormal protein called progerin. Kids with progeria break this down more easily than a healthy kid causing them to grow old more quickly. Progeria is not inherited from a family, it is all genetic. This disease can not be spread by the presence of a child with progeria (Learning About Progeria).
Many treatments are available for the children with progeria.
There is no cure for this disease. A doctor may give the child prescribed drugs such as statins to lower their cholesterol or prevent blood clots. Growth hormones will help with height and weight. Aspirin is suggested every day to prevent strokes and heart attacks. Physical and occupational therapy will help with joint stiffness and hip problems. Helping both of these problems will keep the child active longer. Also, the child may want to get some of their primary teeth pulled to prevent overcrowding and help with teeth alignment (WebMD). An alternative treatment includes coronary bypass surgery or angioplasty. Coronary bypass surgery creates a new routes around blocked arteries so blood flow can deliver necessary nutrients and oxygen to the heart (Kulick). Angioplasty will widen arteries or veins to help with blood flow
(Wikipedia).
In order to diagnose a child with progeria, a doctor must examine the child. They will test for hearing and vision, look at blood pressure, compare height and weight to other kids, and measure your child's pulse (Progeria: Causes, Symptoms, and Treatments). If there are early signs of progeria, families will have their kid get blood drawn, X-rays taken, and a skin biopsy. This will help confirm the diagnosis and help the child get help as soon as possible (The PRF Diagnostic Testing Program). This disorder is fatal due to the fact that most kids with progeria don’t live past the age 13. They grow old too quickly and have complications related to atherosclerosis. The child will have problems with blood vessels resulting in heart failure or even a heart attack. The child may also have a stroke because the blood vessels are having problems supplying to the brain. The disease does not go away so there is no chance of relapsing (Learning About Progeria).
This condition is estimated to affect one in every 4 million newborns worldwide. Around the world, nearly 350 to 400 kids have this disorder at one time. Both sexes have an equal chance of being diagnosed with this disorder. This disease is 100% fatal and since the disease is so rare, researchers couldn’t research the disease until 1950. No family ever yet has had two kids with this disorder. Scleroderma the first sign of progeria, is a skin condition that was noticed when a child was incapable to thrive (18 Amazing Statistics of Progeria).
Having a child with progeria is never easy for the family nor the kid themself. The child is going to need help grasping the understanding of death because they will most likely ask about it. The child has a good chance of dying before they are fully able to comprehend life and death, so giving them a positive response may help the child not worry about it so much (Mayo Clinic). The child will understand the consequences of the disorder when they are ready to understand. The world around a family with progeria is different from a normal family. The child will experience stares, questions and even whispering. Once the child is able to comprehend that, families face the fear that the child may have emotional challenges. Support groups are often offered to help talk to other families or kids with the disease. The child schooling, travels, sibling relations, and sport life are not ever going to be considered normal. The child will be getting looks in school. The child will not be able to participate in the sport they want because they are so fraile. Sibling jealousy may arise due to the fact that a child with progeria needs a lot of attention. The sibling may not fully be aware of the disorder, so they will need to watch their actions and words around the child with progeria. Travels are not easy due to the fact that the child with the disease may become tired and thirsty more easily. Also, they may be uncomfortable so arrangements for items to ease this may be necessary (Living with Progeria.). This disorder will never be easy on a family due to the fact it is fatal, but a family must value the moments with their child, and give the child the experiences to last a lifetime.