Genetic conditions

Expertise that transforms lives

CPA is recognised as the leading provider of evidence-based therapy, quality of life programs and services for people living with neurological and physical conditions, including multiple sclerosis.

We’ve been enabling positive outcomes and supporting clients for more than 70 years. Our expertise lies in the delivery of an evidence-based multi-disciplinary approach that enables clients to live their best life possible.

We offer a range of treatments, interventions and support services, tailored to individual needs, to help your child achieve their goals and make the most of their abilities.

When you choose CPA you will have access to:

  • The best health and wellbeing therapies for neurological support
  • High quality, evidence-based programs designed for genetic conditions
  • Professional staff who are trained and experienced in working with genetic conditions.

Early Childhood Intervention

Early intervention for your child’s fast track to intervention

CPA is the leading provider of Early Childhood Intervention for babies and children with a range of conditions. Using best practice early intervention principles and the latest international science in neuroplasticity, we provide the latest therapies and early learning programs. These interventions are designed to maximise outcomes, while providing significant and long lasting results.

Our programs are based on evidence and qualified research which interventions which lead to positive outcomes for people living with genetic conditions.

Therapy

Neuroplasticity experts giving you better outcomes sooner

At CPA, we provide a multi-discipline therapy service, including physiotherapy, occupational therapy, speech pathology and exercise physiology, as well as assistive technology and equipment prescription

Therapy can be provided individually, in a group program, or via intensive classes. Our team will work with you to find the right therapy for an individual’s needs.

Health and Wellbeing

Optimum health and wellbeing is key to achieving the best version of yourself

CPA offer gym programs, a range of fitness and sports and hydrotherapy services.

Our fully accredited exercise physiologists and personal trainers will work with you to tailor an exercise program for strength, flexibility and endurance so each individual can build and maintain physical fitness they need to enjoy life to the max.

Everyday Living

Expert assistance for every day

Live life your way, every day. At CPA, we offer support for seven days a week or just a few hours: whatever works for you. Whether it’s a companion for social, recreation or sporting activities, home support to manage bills or buy groceries, or personal care support, we’ll match you with someone you trust and feel safe around.

Your safety and wellbeing are always our highest priority, so all CPA support staff are experienced professionals, screened and trained to the highest level.

CPA provide Lifestyles Services – In and Out of Home and Community Based.

Life Coaching

Championing your life’s possibilities

Our experienced Life Skills Coaches are here to support you through every step of your journey. They’re experts at creating new experiences and opportunities for you to meet people, build skills and most importantly, develop your independence.

Whether it’s making friends, travelling overseas, getting a job or even uncovering your goals, CPA’s Life Skills Coaches can help ensure you find and reach your dreams.

Accommodation

Home to call your own

CPA supported accommodation is purpose-built, or modified, to create a safe, friendly and enjoyable environment for adults living with a permanent disability, and high or complex needs.

We’re passionate about making a house a home, so we focus on matching housemates based on both personally and disability profiles.

Home away from home

With fun experiences and the chance to make new friends, our short term accommodation (respite) houses provide much needed respite for children and adults living with a disability, while also giving families and carers a break.

Just like our longer term accommodation, all our houses are purpose-built, or modified, to create a safe, friendly and enjoyable environment.

Supported Employment

Maximising your employment potential

Employment is so important for our happiness, confidence and self-esteem. Packforce is CPA’s Supported Employment program, providing fulfilling work opportunities for people living with disability. Working with us gives you access to training that will maximise your employment potential, whilst having fun.

We provide whole-of life-support, are proud to offer Equal employment Opportunities and always encourage those from non-English speaking backgrounds, as well as school leavers and Aboriginal or Torres Strait Islanders to apply.

Tailored support for your needs

Choosing CPA gives you access to the best health and wellbeing programs, therapies, support and staff. Knowing you have the best care and support allows you to focus on other key areas of your life, such as family, friends or work.

Your first appointment will begin with a personal consultation. During this meeting we take the time to learn about you, your challenges and your goals. With this knowledge we create a personalised plan of programs to help you achieve your goals.

Fully accessible facilities

Our facilities are fully accessible with a range of specialist equipment.
CPA has 20 locations across NSW and the ACT, including five fully accessibly CPA gym facilities located in Allambie Heights, Ryde, Prairiewood, Penshurst and Canberra. A fully accessible hydrotherapy facility is located at Allambie Heights.

These facilities allow us to offer individualised and group based programs tailored specifically for the needs of clients living with a wide range of physical and neurological conditions.

Find expertise that really makes a difference

Chat to our team now on 1300 888 378 or email.

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About genetic conditions

Thousands of Australians have genetic conditions that cause physical or intellectual disabilities. Some of these conditions are inherited, while others are caused by random alteration in one or more genes in the person’s body.

Some babies are born with obvious signs of a genetic condition, such as a physical deformity or a neurological problem. However, many genetic conditions only start showing as the child is growing up, or in the teenage or adult years.

Some of these conditions have little effect, while others have a significant effect on someone’s life, having an impact on their independence, their family, their closest relationships, their work, their sexual lives and their daily activities.

But with the right treatment, therapy, services and support, many people find that the issues raised by their genetic condition can be managed, and their quality of life improved. For babies and children with genetic conditions, early intervention therapies can be vital in allowing them to make the most of their abilities.

What is a gene

A gene is a part of a cell in your body that provides instructions for life. When you are growing as a fetus, it provides instructions to tell you what colour eyes to develop, whether your hair should be straight or curly, and how your heart should develop. They do this by telling your cells to produce proteins that are used throughout the body to help with growth, development and repair.

Once you are born, your genes continue to provide instructions, and do so all through your life. They don’t switch off once you are born. But those instructions now have to compete with all the other influences around you, such as what you eat, what you drink, your environment and more.

You have more than 20,000 genes in you. A whole lot of genes together form what is known as a strand of DNA. Two strands of DNA twisted together form what is known as a chromosome, which is found in the centre of almost every cell in your body. Most people have 46 chromosomes in nearly every cell – 23 inherited from each.

There are dozens of different genetic disorders, most of which are rare. They can be classified like this.

  • Single gene disorders, where the person inherits a single altered or mutated gene. Examples are Huntington’s disease and cystic fibrosis.
  • Complex gene disorders, where the person inherits two or more mutated genes which sometimes combine with environmental or lifestyle factors to cause a disease. These diseases tend to run in families, but there is no clear pattern of inheritance. Examples are Alzheimer’s disease, type 2 diabetes and some cancers.
  • Chromosomal disorders, where the person has damaged, missing or extra chromosomes. Examples are Turner syndrome, cri-du-chat syndrome and Klinefelter syndrome.

 

Impact of genetic conditions

The impact varies from person to person. Everybody has faulty genes – that is part of life. Some cause trouble, and some don’t.

At their mildest, genetic conditions can have minimal effect on an individual, perhaps with some minor health issues, and perhaps not. Other people are significantly affected by their genetic conditions  and need consistent support throughout life.

The impact of the genetic condition/s on the individual may  also affect others around them, especially in the family.

Genetic conditions can come about in three ways:

  • you can have a faulty gene or chromosome passed on by one or both of your parents, or
  • you can have a gene develop a fault in the process of being passed down by a parent, or
  • you can have a gene or chromosome develop a fault while inside your body.

These faulty genes or chromosomes then give faulty instructions throughout your body. It might not give the right instructions to stop a cancer developing, or it might not give instructions to develop pigment in your skin. It might give instructions to make a certain protein, and that protein interferes with how your brain develops. There is a lot of variety in genetic conditions.

Usually it is impossible to say why any one person has a faulty gene or chromosome in the first place. It is thought that some genetic or chromosomal mutations are influenced by things like:

  • radiation from the sun, from X-rays and CT scans, from nuclear explosions
  • some pesticides and toxins.

When a genetic condition begins in infancy, the signs that something is wrong are often first noticed by the baby’s parents. Their fears may be confirmed during routine checks of whether the child is meeting typical developmental milestones. With other genetic disorders, the first signs may appear anywhere from childhood to middle age.

The child or adult often sees a general practitioner, before being referred to a relevant specialist, such as a paediatrician or neurologist. Some people will see a geneticist or a genetic counsellor. The health professionals will take a family and medical history and examine the person. They will order tests, which might include:

  • genetic tests, including DNA sampling, that can be used to confirm or rule out particular conditions
  • blood tests
  • computer tomography (CT) scans of the brain
  • nerve conduction studies and electromyography (EMG) to assess nerve damage
  • nerve or muscle biopsies, where a small sample of nerve or muscle is removed and tested in a laboratory
  • X-rays.

Some genetic conditions can be picked up fairly easily, but rarer conditions may take many months or even years to diagnose.

Some genetic conditions can be tested for, and it can be good to know what’s going on. But you should not have genetic testing without thinking it through carefully.

There are many issues to think about. What is the effect of a test on other family members? Do they have a right to be part of a family decision about testing? Would a genetic test affect your working conditions or your chances of getting insurance?

If you want to discuss testing, it is worth starting with your family doctor or a genetic counsellor. A genetic counsellor works with families to discuss genetic conditions. You can discuss with them whether or not testing is available, how reliable it is, the risks and benefits of testing, your privacy and the privacy of others, and about work and insurance. You can discuss your family with them, and how to talk to your family, and when. They generally work with other experts in genetics.

Having a genetic condition might or might not have a significant impact on the life of the person affected, and on the lives of people around them.

If they have just been diagnosed, it will take some time to get used to. They might be shocked, and they might feel a lot of different emotions, sometimes at the same time, like anger, denial, fear, grief and depression. Having a genetic condition might mean the future is looking less certain, and there might be effects on work, relationships, family and independence.

Parents of children with a serious genetic condition face many problems, including psychological, emotional and financial difficulties in caring for their child.

Finding out as much as possible about the genetic condition and the therapies, services and treatments available can be very helpful. Talk to your doctors. See a genetic counsellor. Use reliable sites such as Healthdirect and Genetic Alliance Australia as a starting point. American sites such as GARD and the Rare Listhave a lot of information on rare genetic conditions.

Healthdirect and Genetic Alliance Australia also provide starting points for finding out about services and support available near you.

Psychological and emotional support

It’s a good time to look for psychological and emotional support. There is a lot to think about, and a lot to deal with. You might be able to get the support you need from your partner, your family and your friends, but you can also look for support from a professional such as a psychologist, counsellor or social worker.

 

Treatment

The treatment the person affected needs will depend on the particular condition and how it affects them.

Ideally, they will be cared for by a multidisciplinary team that changes as their needs change. It should be led by a GP that you get to know and trust, and who acts as a guide to the services and supports available. Other members of the team could include:

  • a medical specialist such as a neurologist or geneticist, supported by others as required like surgeons
  • a physiotherapist who can provide advice on movement and mobility
  • an occupational therapist who can help with advice around mobility and independence
  • a social worker or a psychologist or counsellor to help manage both the practical and the emotional aspects of the condition
  • and more.

There is no cure for genetic conditions. But there is often a lot that can be done to manage symptoms, keep disability to a minimum, prevent complications and improve quality of life.

Often early intervention programs are recommended for babies and young children with genetic conditions.

Chat to our team now on 1300 888 378 or email.