{"id":8542,"date":"2023-02-28T10:30:26","date_gmt":"2023-02-28T00:30:26","guid":{"rendered":"https:\/\/metronorth.health.qld.gov.au\/caboolture\/uncategorized\/ghq-provides-long-awaited-answers"},"modified":"2023-02-28T10:30:26","modified_gmt":"2023-02-28T00:30:26","slug":"ghq-provides-long-awaited-answers","status":"publish","type":"post","link":"https:\/\/metronorth.health.qld.gov.au\/caboolture\/news\/ghq-provides-long-awaited-answers","title":{"rendered":"Genetic Health Queensland provides long awaited answers"},"content":{"rendered":"

Genetic Health Queensland provides long awaited answers<\/h1>\n
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Helen Williams and her son Connor were thrilled to receive a diagnosis for Connor\u2019s condition.<\/p><\/div>\n

On 28 February each year, Rare Diseases Day aims to raise awareness and generate change for the 300 million people worldwide living with a rare disease.<\/h4>\n

Connor Penhaligon is one of these people, who at age 21 has finally received a diagnosis for his rare disease thanks to Genetic Health Queensland based at the Royal Brisbane and Women\u2019s Hospital.<\/p>\n

Connor has a KAT6A <\/em>related condition, a rare disease which has only been officially diagnosed in 350 people worldwide. He experiences a range of symptoms including intellectual disability, speech delays, and diminished muscle tone which makes eating, walking, and keeping his eyes open difficult.<\/p>\n

Helen Williams, Connor\u2019s mum, said receiving a diagnosis for his condition after 21 years of speculation and guessing was life changing.<\/p>\n

\u201cWhen Connor was born, the doctors knew pretty quickly that something wasn\u2019t quite right. I didn\u2019t want to believe it at first, however after spending countless weeks in hospital with Connor as he battled infections and other issues, I knew they were correct,\u201d Helen said.<\/p>\n

\u201cThe technology to diagnose Connor\u2019s condition wasn\u2019t advanced enough until recently, so I spent most of his life wondering if I\u2019d done something wrong during pregnancy to cause it. You go through every possibility over and over in your head.<\/p>\n

\u201cWe\u2019ve been working with the Genetic Health Queensland team since Connor was four years old and were elated to find out there was a finally a test that would reveal Connor\u2019s diagnosis. We found out that his condition is de novo<\/em>, which means it wasn\u2019t inherited from either parent. It felt like I\u2019d been acquitted of the guilt I\u2019d been carrying all his life \u2013 it wasn\u2019t anyone\u2019s fault.<\/p>\n

\u201cDespite our challenges, we wouldn\u2019t have it any other way. Connor only has two settings \u2013 happy and happier. He\u2019s so easy to love. Our whole family simply adores him.<\/p>\n

\u201cI just want to help spread awareness and help other families who may be in a similar position\u201d.<\/p>\n

Genetic Health Queensland Director and Clinical Geneticist Professor Julie McGaughran said unfortunately for people like Connor, it\u2019s not uncommon for them to go many years without a diagnosis.<\/p>\n

\u201cThis is referred to as diagnostic odyssey and means that the families of these children often face an uncertain and unpredictable journey,\u201d Dr McGaughran said.<\/p>\n

\u201cChildren generally have better access to testing now, but there are many adults who have missed out. Connor was fortunate that his family followed up until we reached a diagnosis, but there are many others have not had the opportunity. It\u2019s important for these families to consider a referral to a clinical genetics service for a contemporary assessment.<\/p>\n

\u201cIt\u2019s my role as a clinical geneticist to clinically assess patients for a diagnosis, which involves assessing their family tree and any prior investigations the patient has had before ordering the most suitable and comprehensive genetic test available. It\u2019s very important to have a thorough understanding of the patient\u2019s condition to ensure correct interpretation of genetic test results.<\/p>\n

\u201cThere are a range of benefits to receiving a diagnosis such as having a better idea of what to expect for the future and understanding the chance of other family members or their children having the same condition.\u201d<\/p>\n<\/div>

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Metro North Health have partnered with Illumina to offer patients <18-years-old from across Queensland access to whole genomic sequencing via Genetic Health Queensland. Through looking at targeted panels of genes using the latest technology, Queenslanders now have the best chance of finding a rare disease diagnosis<\/em>. For more information on this and on Genetic Health Queensland, please visit their <\/em>website. <\/em><\/a>\u00a0<\/em><\/p>\n<\/div>

<\/div><\/div><\/div>
<\/div><\/div><\/div><\/div><\/div>\n","protected":false},"excerpt":{"rendered":"

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