Stephanie-Ann's Story

Stephanie-Ann's Story  
Ataxia-Telangiectasia (A-T) is a rare degenerative disorder affecting approx 1 in 700,000 as is first apparent during childhood. A -T is an autosomal recessive disorder caused by a defective gene on chromosome number 11. It is a complicated illness that affects a number of different parts of the body, particularly the brain and the immune system. A-T is a progressive disease and most children with A-T will eventually need a wheelchair and assistance with activities of daily living. The most obvious features of A-T are the loss of balance and coordination (ataxia), and the appearance of clusters of blood vessels on the whites of the eye (telangiectasia) that make them appear bloodshot.

Stephanie-Ann was first diagnosed with A-T in February 2001 at age 7, she deteriorated rapidly and was wheelchair dependant by age 10. There is at present no cure for A-T. Treatment is supportive in nature, to prevent infections and other illnesses, and to help remain as active and functional as possible. Stephanie-Ann spends her school time between a normal (mainstream) school & special school, we try to provide her with as normal a lifestyle as her condition permits.

We first heard about the Heartwell program through Steph's physiotherapist at Monash Medical Centre who recommended it for the duration that she would be away. Thankfully we were accepted as we had been through a number of physios who moved on and did not form any relationship with Steph.

Stephanie-Ann has benefited from the physical therapy at Heartwell and we believe it has provided her with the highest level of functioning during the past three years. Having access to the Fitness program has provided her with an opportunity to slow the degeneration. A-T patients need a regular fitness and recreation program to promote aerobic fitness, retain muscle tone and to maintain optimal strength, endurance and function. Heartwell has provided this in an environment that is fun, non-stressful and is at a pace dictated by Stephanie-Ann. All this we have achieved in a family-based atmosphere where Steph has felt a part of a relaxed group and not just a number. We have always left the centre with the feeling that our child will be safe and well cared for. The one-on-one program has helped her build friendships and confidence. We parents cannot undermine the emotional support that the staff have provided to us too.

There have been many occasions where parents have been a part of the program and have seen these abilities and confidence building. Scott and all the staff at Heartwell have always encouraged us to take an active part in the program so we are aware of the nature of the tasks, for which we are very grateful.

Heartwell has not been all-work-and-no-play. There have been a number of fun-days organised afternoon-teas, bowling, Movies etc. This has broken up the monotony and allowed us parents to experience this happy, fun atmosphere too thanks to the sponsors without whom we could not do without. The nature of Stephanie-Ann's illness has been such that health and emotional issues during the last three years have not allowed us to be a part of all these extra activities, but the ones that we have attended have been so enjoyable that they have left memories that will not be forgotten. To us, happy memories are worth more than all the money in the world!

Steph's sponsor has been a wonderful support as they have provided us with not just the ability to be a part of the program but have also provided many special afternoon-teas for all the kids and their families to enjoy. It is great to be treated as an individual and not another number in the  big world of sponsorship. The best thing about all the sponsors to our program is that they have all taken an active interest in the children and have shown their caring through regular correspondence. This can be no easy task in their busy lives and is much appreciated.

To end this article we thank all the staff for their support and sincerely hope that the Heartwell program and the sponsors will continue forever so that other children and their parents may experience this warm, fun and genuinely caring atmosphere that cannot be found in any physiotherapy clinic.

Andrea & Gavin (Stephanie-Ann’s Mum & Dad)

 

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