This is the website of
Archie Watson - Amazing Archie
Archie was diagnosed with Tay-Sachs just before
Christmas. We want to raise awareness of this fatal disease but, more
importantly, share good news about the great life Archie is going to
Tay-Sachs disease is a rare inherited disorder that
progressively destroys nerve cells (neurons) in the brain and spinal
Tay-Sachs disease occurs when the body lacks hexosaminidase A, a protein
that helps break down a chemical found in nerve tissue called
gangliosides. Without this protein, gangliosides, particularly
ganglioside GM2, build up in cells, especially nerve cells in the brain.
A baby with Tay-Sachs disease will develop normally until they are
around three to six months old. The average age that symptoms start is
Tay-Sachs disease is caused by a defective gene on chromosome 15. When
both parents carry the defective Tay-Sachs gene, a child has a 25%
chance of developing the disease. The child must receive two copies of
the defective gene -- one from each parent -- in order to become sick.
If only one parent passes the defective gene to the child, the child is
called a carrier. He or she won't be sick, but will have the potential
to pass the disease to his or her own children.
The first noticeable symptom is usually that your baby is excessively
surprised and startled by noises, such as people clapping their hands or
a telephone ringing. You may also notice that a red spot appears near
the centre of each of their eyes.
It is likely that your baby will be much slower in reaching
developmental milestones, such as gripping objects and learning to
crawl. Additional symptoms usually develop after about eight months of
age and quickly become more severe. They include:
increasing muscle weakness that progresses to paralysis (inability to
move body parts)
increasing loss of vision
loss of hearing
difficulties swallowing (dysphagia)
muscle stiffness (spasticity)
lack of interest in the world around them
Due to the increasing damage to the nervous system, children with
Tay-Sachs disease become increasingly vulnerable to infection,
particularly lung infections. Many children with the condition die from
a complication of an infection.
Children with this severe infantile form of Tay-Sachs disease usually
live only into early childhood.
Our mission is to raise awareness of Tay-Sachs, share stories with parents
of other sufferers and to, hopefully, raise money to help find a cure.