Showing posts with label ageing. Show all posts
Showing posts with label ageing. Show all posts

Sunday, January 2, 2000

Great Birthday Party Ideas for Children with Progeria

Can birthday parties be as much fun to create as they are to enjoy by children?

It seems that, even though they require a bit of work, all parents would love to spend time decorating and planning the perfect birthday for their child.

Birthday party ideas come from a mind filled with the happy promise of all the milestones that lay a head. Soon your six year old girl will be the happy bride.
But, what if you'd been informed by a doctor that your child had the genetic disease called Hutchinson-Gilford Progeria Syndrome?

Also known as Progeria, this syndrome is fatal. It literally means "prematurely
old." This means that when your child is still chronologically young, they will have the appearance and symptoms of a very old person. They may die between 8 and 21 years old, with the average age being 13.

First recognized in 1886 by Dr. Jonathan Hutchinson, Progeria is thought to be caused by the LMNA (pronounced: lamin-a) gene. The LMNA gene in turn leads to the creation of the Lamin A protein which acts as a stabilizing force for the cell's nucleus.
In sum, a faulty Lamin A protein leads to the cells instability, with this "prematurely old" condition being the result.

Birthday Party Ideas for Children with Progeria: Little Child Interests

Think of how the creativity for your child's birthday party could suddenly be unleashed if you realized that their 13th birthday might well be their last.
Remember, they are still a child in a prematurely old body. With this in mind, wouldn't they still appreciate balloons and the contact of their friends?

In coming up with birthday party ideas for children with Progeria, then, maybe the hardest part is still just reacting to the simple interests they have as children.

Usually, children with Progeria die of Atherosclerosis (heart disease). However, during their short life they also have symptoms associated with old age like stiffness in the joints and a loss of body fat.

In thinking of birthday party ideas, then, you should realize that children with Progeria can't engage in physical activities which are too strenuous.

The dilemma in creating birthday party ideas is thus how to think of your child as two people—one is too young to be old, while the other is too old to be young.

Quite obviously, this is a sad situation. And yet, think of the home movies you can have of your child's birthdays. The ideas you have for birthday parties now will create some of the best memories of your child when they are gone.

Saturday, January 1, 2000

Hard Facts About Progeria

Progeria: A Dreadful Quick Aging Disorder that Makes the Sufferer Age 6 Times Faster Than Normal

A 5 year old looking like they are 30. A 10 year old looking like they are 60. This is what happens to the sufferers of Hutchinson-Gilford Progeria Syndrome (HPGS), more commonly known as Progeria.

It is simply one of the most intriguing ones that doctors around the world have ever seen.
We will go over its causes, symptoms, treatments, and some interesting facts for an already interesting disorder.

This disease is caused by a type of mutation called a point mutation. Point mutation is when one, and only one, DNA base is replaced with another DNA base.

In the case of Progeria, cytosine is replaced by thymine. This one change in the long strand causes a problem in the protein Lamin A.

This protein, which helps build the nucleus inside each cell, is now unusable. In normal cells, the nuclear envelope is round and smooth like a circle.

However, in people who suffer from Progeria, the nuclear envelope is folded and uneven and distorted, thus making it more difficult for the nucleus to perform its job.

The cause of Progeria for many years was largely unknown; some researchers suggested that it could be an autosomal recessive transmission, others seem to believe it went the other way in an autosomal dominate mutation.

Eventually it was discovered that it was a mutation in a gene called LMNA (Lamin-A) in Chromosome 1.

Some of the signs and symptoms are typical for the age group, which are effected by Progeria, such as being short and thin. The other signs show us just how devastating Hutchinson-Gilford Syndrome really is.

  • Prominent Eyes
  • Scalp Veins
  • Protruding Ears
  • Beaked Nose
  • Large head with hair loss.
  • Narrowed or shrunken face.
  • Small Jaw
  • Open Soft Spot
  • Dry Scaly or Think Skin
  • Decayed or lack of formation in teeth.
  • Limited range of motion.
  • Balding and the loss of eyebrows and eyelashes.
  • Skin wrinkling, with pigmented age spots.
  • Loss of subcutaneous tissue.
  • High-pitched voice.
  • Undeveloped or underdeveloped sexual maturation.
  • Bone lesions, which often result in fractures and hip dislocations.
  • Abnormal delayed dentition.
Death usually occurs between the ages of 12 and 14 years. This generally occurs as a result of cardiovascular deterioration, which includes atherosclerosis, myocardial infarction, and congestive heart failure.