Jeans for Genes Day – 2nd August 2019

Jeans for Genes Day 2nd August 2019

Jeans for Genes Day 2nd August 2019

Genes are the blueprint for our bodies. They dictate everything about the body, from the size and shape of our nose through to our ability to see in the dark.

Every cell in the body contains a copy of the blueprint. And this blueprint is made up of a sequence of 4 proteins called adenine (A), guanine (G), thymine (T), and cytosine (C).

Different patterns of A, G, T and C makes up a strand of DNA. Then, several strands of DNA twisted together (like a ladder) form something we call a chromosome. And several chromosomes form a gene.

Genes get shared across generations. Which is how children share characteristics of their parents. But just like anything in this world mistakes can happen.

For a crude example if A-A-C-T-G-A produces a normal healthy liver. A spelling mistake could occur with one letter missing or swapped it could mean a bad liver gets built.

You might have heard that heart problems or diabetes “run in the family.” Well, that’s because the genes hold these spelling mistakes, or aberrations and they move through the family line.

Joining Father and Mother Together

We have 46 paired chromosomes, and around 23,000 genes. The 46 chromosomes in the human cell are made up of 22 paired chromosomes. These are numbered from 1 to 22 according to size, with chromosome number 1 being the biggest. These numbered chromosomes are called autosomes. Cells in the body of a woman also contain two sex chromosomes called X chromosomes, in addition to the 44 autosomes. Body cells in men contain an X and a Y chromosome and 44 autosomes.

The 23,000 genes come in pairs. One gene in each pair is inherited from the person’s mother and the other from their father. A sperm and an egg each contain one copy of every gene needed to make up a person (one set of 23 chromosomes each). When the sperm fertilises the egg, two copies of each gene are present (46 chromosomes), and so a new life can begin.

Dominant and recessive genes

There are two copies of the genes contained in each set of chromosomes. These both send special messages to tell the cell how to work. Some of these genes are dominant over others.

For example, brown eye colour is a dominant gene. So when it’s paired with eye colour the most probable outcome is brown eyes.

Because gene sequences are complicated two parents with blue eyes could have a child with brown eyes.

Genetic conditions

As of today, we know that there are upwards of 1,700 gene related conditions. Some of these are as a direct result of aberration, and others are only indirect.

For example, it’s estimated that about 50% of Australians will be affected by a genetically related illness at some point in their life.

There are three ways in which genetic conditions arise:

  • A variation in the gene that makes it bad (a mutation) that occurs randomly during the formation of the egg or sperm, or at conception.
  • The faulty gene is passed from parent to child and may directly cause a problem that affects the child at birth or later in life.
  • The faulty gene is passed from parent to child and may cause a genetic susceptibility. Environmental factors, such as diet and exposure to chemicals, combined with this susceptibility to triggering the onset of the disorder.

Early Problem Detection

Genetic counselling is available for people wanting a prenatal diagnosis to understand how existing parental conditions may affect a child.

Speak to your doctor today or Paediatrician and ask for a referral.

Jeans For Genes Day

Every year on the first Friday of August (which falls on the 2nd in 2019), Australians unite on Jeans for Genes Day by wearing their favourite jeans, donating money and purchasing merchandise to support genetic research.


11 back to school tips to kick-start the new school year

back to school

back to school

Back to school time is always a bit scary and can be a huge thing for some kids. It is a big transition, not only for children but for parents too.

Your child may be filled with excitement and notions on what it is going to be like. They may experience first-day jitters and some nervousness. Meanwhile, parents are filled with thoughts of “Am I ready? Do I have everything I need?”

To help reduce those thoughts and help you and your child prepare for the new school year we have come up with some tips. All you really need is a little organisation and planning.

Here are 11 back to school tips to kick-start the new school year and get you prepared for a fresh start.

  1. Get back into your sleep routine. To help lessen those stressful school mornings, set up a regular bedtime and morning time routine. This will help your child prepare for school. Begin your usual school sleep routine about a week or so before school starts, so round about now.


  1. Shop for school supplies together. Kids are more likely to embrace the start of the new school year if they are involved. To get your child excited about starting a new grade, shop for school stuff together. Let them pick out their own backpack, lunchbox, etc. This is a great way to give them a little bit of responsibility too!


  1. Re-establish school routines. Have your child practice getting back into the rhythm of their daily school routine. Get them to wake and get up at the same time every day. Encourage them to eat at a similar time that they would be doing so at school. Another great idea is to plan a few outside activities. Do this so your child will have to leave and come home around the same time they would if they were at school. This will help them be more physically prepared and mentally ready for the big day.


  1. Set up a homework station. Sit down with your child and together choose a time and place where they will be expected to do their homework every day. This can be somewhere quiet, like in the study, or even in the kitchen while you are preparing dinner. Be sure to choose a time where you are around so that if your child needs your help you are there.


  1. Children get ill – be prepared. It can be difficult to find a sitter when your child is sick and this is possibly the biggest challenge that working parents face. Before the new term even begins, it’s a good idea to have a sitter already lined up in case you get that phone call home from the nurse saying your child is ill.


  1. Make an after-school game plan. Make a plan for where your child will go after school lets out for the day. Depending upon the age of your child, make a plan as to whether they will go to a neighbour’s house. You may choose an after-school program or allow them to stay home by themselves. This will help reduce any confusion and misunderstandings during the first few weeks.


  1. Turn off the TV and video games. For a lot of children summertime is filled with endless video games and TV programs. Children are usually in shock when they begin school. They suddenly realise that six hours of their day is going to spent learning and not playing games and watching TV. Ease your child into the learning process by turning off the electrics intermittently. Instead encourage them to read or play quietly.


  1. Review school material and information. For most parents, schools send home information in a pack. This usually includes information regarding their child’s new teacher and important dates to remember. It will probably also include emergency forms, and transportation routines. Make sure that you read through this information carefully, and mark down all important dates on your calendar.


  1. Get organised. The best way to prepare for back to school time is to be as organised as you can be. With school comes a massive amount of paperwork which can and often does overwhelm a household. Designate a spot in your house for homework, permission slips, and any other school-related papers. This can help cutdown on the paper clutter and make your life less stressful.


  1. Get your child’s yearly check-up provided here at HLGP. School and germs go hand in hand, so it’s best to get your child’s yearly check-up before school even starts. Get any required vaccinations and ask your doctor the best ways your child can stay healthy throughout the school year. They will have some really valuable tips on this.


  1. Plan. If your child has Asthma or Allergy / Anaphylaxis then the school will require the completion of the appropriate management plan. Make an appointment with your GP to have this done.


Through preparation and organisation, you can make sure that your child will have a smooth transition to the start of the new school year. By doing so, life is less stressful for you and your child!




What is Parkinson’s disease



11 April – World Parkinson’s Day

What is Parkinson’s disease?

Michel J Fox was one of the first really well-known celebrities to be diagnosed with Parkinson’s disease. More recently Neil Diamond retired from touring as he was diagnosed also. But what is it?

Parkinson’s is the second most common neurological disease in Australia after dementia. The disease affects an estimated 10 million individuals worldwide. Around 80,000 people in Australia have the disease. 32 Aussies are diagnosed with the disease every day. 20% of sufferers are under 50 years old and a surprising 10% are diagnosed before the age of 40.

Parkinson’s disease affects the way you move. It occurs when there is a problem with certain nerve cells in the brain.

Normally, these nerve cells make an important chemical called dopamine. Dopamine sends signals to the part of your brain that controls and monitors movement. It allows your muscles to move smoothly and do what you want them to do.

These nerve cells break down when you have Parkinson’s. You no longer produce enough dopamine, and as a result, you have trouble moving the way you want to.

Parkinson’s is progressive, which means it gets worse over time and the effects more dramatic. Usually, this happens slowly, over many years. And there are a number of good treatments that can help you live a more full and complete life.

What causes Parkinson’s disease?

No one knows for sure what makes these nerve cells break down. Scientists are currently doing a lot of research to look for the answer to this question. They are studying many possible causes, including ageing, poisons in the environment and others.

In many cases, it appears that abnormal genes can lead to Parkinson’s disease. However, to date, there is not enough evidence to show that it is always inherited.

What are the symptoms?

The symptoms can be varied however the main symptoms of Parkinson’s are:

  • Slowness of voluntary movements, especially in the initiation of such movements as walking or rolling over in bed
  • Decreased facial expression, monotonous speech, and decreased eye blinking
  • A shuffling gait with poor arm swing and stooped posture
  • Unsteady balance; difficulty rising from a sitting position
  • Continuous “pill-rolling” motion of the thumb and forefinger
  • Abnormal tone or stiffness in the trunk and extremities
  • Swallowing problems in later stages
  • Lightheadedness or fainting when standing (orthostatic hypotension)

Call Your Doctor About Parkinson’s Disease If:

You suspect Parkinson’s disease might be at the root of any of the symptoms listed above. Drugs and other therapies are very effective in the treatment of Parkinson’s disease. There are many ways to help a person with Parkinson’s disease.

The first step is, of course, diagnosis and you should visit your doctor if you have any concerns at all.

No specific test exists to diagnose Parkinson’s disease. Your doctor, trained in nervous system conditions will diagnose Parkinson’s disease. This diagnosis will be based on your medical history and a review of your signs and symptoms. You will also have a neurological and physical examination to determine if Parkinson’s is the problem.