Pregnancy and birth are exciting times in the lives of parents. A new little family member coming into the world means lots of wondering what they’ll look like, which character traits they’ll inherit from mum or dad, and of course, whether they’ll be healthy and meet their milestones. With all the excitement that a new baby brings, parents sometimes don’t immediately realise that something might be amiss with their baby’s health, and it isn’t until a few months of even a couple of years into a child’s life that they received a diagnosis.
Sadly, some children are born with conditions that are a medical mystery, and cannot be properly diagnosed. In Australia, more than 2500 children are born with an undiagnosed condition each year, and of these, between 40 and 60% may never be diagnosed. Syndromes Without A Name, or SWANS, are children and infants who live with genetic conditions that do not have a diagnosis, and are therefore often difficult to treat or maintain effectively.
April 18 marks Undiagnosed Children’s Awareness Day, which aims to raise vital funds for the continued support and advocacy of children with an undiagnosed illness or condition. SWAN is the only recognised Australian organisation that actively strives to ensure that these special children are not forgotten. Donations are used to support children and their parents by providing counselling, practical assistance, community and peer connections, in addition to maintaining a telephone support line and most importantly, showing families that they are not alone in their unique situation.
Many undiagnosed conditions involve a genetic anomaly that cannot be pinpointed, however there are many more common conditions that also have a genetic link. Prospective parents who are concerned about their child being born with any condition can ease some of their worries with a range of prenatal or antenatal tests from EasyDNA Australia.
The Preconception Screening Test is one of the most comprehensive tests on the market, and can detect more than 9000 mutations across 148 genes, for more than 150 genetic disorders. This test can be used as a tool for future parents, helping them to ascertain their risk of their chid having an inherited condition. Some diseases and conditions are so rare that prospective parents aren’t aware that they are carriers. This is a non-invasive test, requiring a simple blood sample from one or both parents. Results are returned in a timely manner, revealing the likelihood of your baby being born with a genetic condition.
Another screening test that is suitable for soon to be parents is the Prenatal Peace test, which can be done from as early as 7 weeks gestation. This test provides more accurate results than traditional screening tests, and requires a simple blood sample taken from the mother. This test screens for a number of genetic conditions, including,
- Down Syndrome (Trisomy 21)
- Edward’s syndrome (Trisomy 18)
- Patau Syndrome (Trisomy 13)
- Trisomy 9
- Trisomy 16
- Trisomy 22
Tests such as the Preconception Screening Test and the Prenatal Peace test can play an important role in providing peace of mind for future parents who might be feeling unsure about the health of their precious baby. There is nothing more important than family, and knowing as much as possible about prospective conditions that your child could have is the first step in becoming an informed, proactive parent.
Donations to Undiagnosed Children’s Awareness Day can be made via the GiveNow website.