Patrick’s story

Patrick is nine going on ten and is an avid student of the martial arts. His tight-knit, food-loving family consists of parents Kathy and Rocky and his baby brother. Patrick was born with Phenylketonuria (PKU), a condition that prevents the normal breakdown of protein found in food.

Phenylketonuria (PKU)

People with PKU are unable to break down the amino acid phenylalanine in their livers. When phenylalanine reaches toxic levels, it can cause irreversible brain damage.

PKU can be managed through a careful diet that restricts phenylalanine, which is unfortunately found in most foods that contain protein – including most vegetables.

PKU is caused by a mutation of the PAH gene. It can be identified through blood analysis, obtained from a heel-prick test at birth. Genetic testing can be used to inform care and to identify carriers of the PAH gene mutation.

Josh’s story

Josh is a master of comedic timing and the eldest of four. His family is made up of parents Beth and Anthony and siblings Dominic, Sophie and Louisa, as well as two dogs, a black cat, a turtle, a snake and many chickens. When he was 16 years old, Josh was diagnosed with Pit-Hopkins Syndrome.

Pitt-Hopkins Syndrome

Pitt-Hopkins Syndrome is a neurological disorder. Its symptoms can include lack of coordination, impacted motor skills, breathing difficulties and delayed speech.

It is caused by a change to the TCF4 gene on Chromosome 18, which usually happens spontaneously instead of running in a family. Targeted genetic testing can detect the change in the TCF4 gene, which was only discovered in 2008.

Amelia’s story

Amelia is nine years old and is Robbin and Georgia’s only child. She enjoys swimming, dancing and playing the guitar. Both Robbin and Georgia have a variant of Thalassaemia, a blood condition that inhibits the body’s ability to produce haemoglobin. Amelia was born with Thalassaemia Major and needs regular blood transfusions.

Thalassaemia major and minor

People with thalassaemia do not produce enough healthy haemoglobin, which is a protein found in red blood cells that carry oxygen around the body. Symptoms can include fatigue, shortness of breath and generalised weakness, as well as enlargements to the liver and spleen.

Thalassaemia is caused by mutations within the HBA and HBB gene clusters. Thalassaemia major occurs when both copies of these genes have mutations; thalassaemia minor occurs when only one copy has a mutation. People with thalassaemia minor may have mild or no symptoms but can still pass on the genetic changes to their children.

Diagnosis is made first through whole blood count to assess haemoglobin levels and then targeted genetic testing.

Noah’s story

Noah is five years old and has just started school this year. His family consists of parents Deanna and Andrew, and Henry the dog. Noah has Niemann-Pick Type C, an ultra-rare condition that prohibits his body’s ability to process fats and cholesterol.

Niemann-Pick Type C (NPC) Disease

Niemann-Pick Type C disease impacts the movement of cholesterol within cells. This causes cholesterol to accumulate within the cells of the brain, liver, lungs and spleen. This can lead to progressive intellectual decline, loss of motor skills, seizures and dementia.

Symptoms commonly appear in childhood, but the rate at which the disease progresses can vary greatly.

Diagnosis is confirmed with gene panel testing of the NPC1 and NPC2 genes. Exome and genome sequencing can also check for variants in other parts of a patient’s DNA.

Scott’s story

Scott is a 35-year-old engineer with a penchant for all things tech. At age 13, Scott began developing kidney stones regularly. Genomic testing revealed he has a rare condition known as Primary Hyperoxaluria, which causes a build up of a substance known as oxalate in the body.

Primary hyperoxaluria

People with primary hyperoxaluria have excess levels of a substance known as oxalate in their bodies, most notably their kidneys.

Symptoms include kidney stones, painful urination, urinary tract infections and kidney damage or failure. As the kidneys lose function over time, oxalates can start forming in other organs, leading to significant health issues and even death.

Gene panel testing can identify the variants in the AXGT, GRHPR and HOGA1 genes that can cause primary hyperoxaluria. While the long-term treatment is a liver-kidney transplant, Vitamin B supplements can sometimes slow the progression of the disease.

Yusuf’s story

Yusuf is five years old and is described by parents Selima and Kasum as ‘very cheeky’. He has a very rare condition known as Pitt-Hopkins Syndrome and is one of the 40 diagnosed with the condition in Australia.

Pitt-Hopkins Syndrome

Pitt-Hopkins Syndrome is a neurological disorder. Its symptoms can include lack of coordination, impacted motor skills, breathing difficulties and delayed speech.

It is caused by a change to the TCF4 gene on Chromosome 18, which usually happens spontaneously instead of running in a family. Targeted genetic testing can detect the change in the TCF4 gene, which was only discovered in 2008.

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