Ethan was born on 18th August 2008 weighing 9lb 1oz he was a happy, contented, normal baby

and after a nasty bout of chicken pox at about 7 months we noticed he was not progressing as

he should be and not reaching his milestones. He should have been rolling over, sitting up and Ethan was

not able to do this.

I booked a development check with the Health Visitor and was devestated when she put Ethan's ability at

approximately 3-6 months in age. She said she would refer him on to the Child Development Centre for further

assessment.

After our initial consultation with the Paediatric Registrar we were told Ethan had profound Hypotonia and Global

Development Delay. Hypotonia is loss of muscle tone so with a stint at physio we thought his muscle tone

would eventually improve. We were referred to many departments as a precaution, Audiology, Opthamology,

Physio, Occupational Therapy, Orthopaedics and also sent for some blood tests to test for certain disorders.

Nothing could have prepared us for the worst day in our lives when the Opthamologist confirmed that Ethan did

have the Cherry Red Spot at the back of his retina. We still had to wait for blood tests to confirm but we knew

that this was a high indication for neurodegenetarive disorders.

On the 1st October our worst fears came true and Ethan's blood results confirmed that he has Tay-Sachs Disease.

There are no words to describe the heartache we felt on hearing this.

Tay-Sachs disease is a rare inherited disorder that results in the progressive destruction of nerve cells

in the brain and spinal cord.

The disease affects boys and girls equally. In its most common form, the disease becomes evident between

3 and 6 months of age, when previously normal infants begin to slow in their development and gradually lose

their ability to move.

A baby with Tay-Sachs Disease appears to develop normally until about 3-6 months of age. Parents often

notice that the baby's development slows as symptoms of the disease appear. The baby stops smiling, they often show prominent startle reactions (startled responses to certain stimuli, such as loud noises), their movement slows and they stop reaching out, holding onto objects, turning over and crawling and they start to lose their sight. The symptoms get progressively worse over the next few years, leading to loss of control over movements, lack of energy or interest in their surroundings, irritability, dementia (loss of mental function), deafness, blindness,seizures (fits), difficulty swallowing, and eventually paralysis.

Most infants who develop Tay-Sachs disease will die before the age of five years, usually from an associated infection like pneumonia. This disease is very rare in the general population, affecting about one person in every 250,000 to 300,000.

There is currently NO CURE for Tay-Sachs Disease, although a number of the symptoms can be effectively managed and although there is no treatment for Tay-Sachs disease, a simple blood test can identify whether someone is a carrier of the defective gene. If you are in a high risk group, you may wish to consider this blood test before starting a family - this is called prenatal testing

We now have two choices, we can sit at home crying being angry about Ethan's diagnosis or we can be positive and appreciate what little time we have with him and make it the best time we possibly can. We have decided to go with the second option and make the most of our precious son's life and give him the best life he can possibly have, with the help and support of our family and friends we are able to do this.

  We have had several offers of help with

  fundraising and offers of money but we are hardworking proud people and do not like to beg for anything, therefore Ethan's Grandad has set up Ethan's Fund so as people can donate or fundraise for this account. This money will then be used for special equipment that we may need to improve Ethan's quality of life and to give him the best memories he can have.

This website will be kept up to date with any fundraising events coming up and also details of Ethan's progress.

Many Thanks for your Support