Diagnosis advice and personal stories

Diagnosed while pregnant?

It’s deeply distressing when a problem is picked up while you are pregnant.

  • As you read through this site and look online for other information, please remember that the internet is a scary place when you’re worried and confused! There are lots of problems that CAN be associated with XXY / Klinefelter Syndrome or XYY, and your child may have some of them, but almost certainly won’t have all of them.
  • You may decide to talk to friends and family, or hold off until you have your head around the issue. You will probably find that family and friends who are usually supportive on other issues, will offer wonderful reassurance and comfort. Those who don’t deal well with problems may be distant or try to blame someone or something for what’s happening. Sex chromosomal issues can be a sensitive topic. Some parents want to advocate and educate about their child’s variation; others prefer not to discuss it, for the sake of their child’s privacy. Your approach is your decision.
  • You should be offered support from your hospital or obstetrician or a genetic counsellor.

You don’t have to deal with this alone. If you are not getting support, see your GP and ask for assistance. Finding out your baby will have difference is a shock. Don’t be afraid to ask for assistance to help you understand what this means.

  • Contact us. We can put you in touch with a parent who has a child of a similar age or who lives near you. You might like to meet an older child or adult with the same condition as your baby.
  • There may be discussion around termination for a foetus diagnosed with sex chromosome variations.

Obviously, decisions regarding termination are deeply personal. As parents of children with these conditions or affected adults, we can talk you through the reality of what life is like.

  • You will wonder why this has happened.

The exact cause of the extra chromosome is unknown. Research shows it can come from either parent, and there doesn’t seem to be a relationship to parental age. There is nothing you or your partner did that caused this. It doesn’t mean any future children will have a chromosomal variation.

  • Most importantly, having a diagnosis from birth allows you to help your son.

Early intervention is key. If your child shows delays in speech or motor skills and needs assistance, you will know why and will be able to get them the support they need.

Personal stories: “I had to arrange my 13 weeks scan privately and Sydney UltraSound for Women recommended the NIPT test...” Click to read personal stories from four AXYS members who had pre-natal diagnosis of XXY, and what happened next.

Pre-natal diagnosis myth busters! The need for robust and accurate information is so important. Unfortunately, too many parents who have a prenatal diagnosis have been provided with inaccurate advice and information, creating false perceptions and unnecessary anxiety about the future of their unborn son. Click to read XXY pre-natal diagnosis myth-busters

Your son has been diagnosed with Klinefelter Syndrome / XXY or XYY Syndrome

Did your child always seem a little different – young for their age, or having learning, speech or motor skill trouble? Maybe they have a diagnosis of Autism Spectrum or ADHD, but you felt it didn’t quite fit?

Welcome to the world of post-diagnosis. Now you can pinpoint why your child has needed extra help, and get them the best support you can.

You may be angry, upset, relieved, guilty, devastated, frightened – or all of these! These emotions are very natural. Please give yourself some time to process what you’ve found out and put all the pieces together. Your child is still your precious wonderful child, that hadn’t changed – and now you know more about them, you will be able to help them better.

Here’s what to focus on now:

  • How are you feeling?
  • What support do you and your child need?
  • How to discuss the diagnosis with family
  • Practical tips and hints on how to manage school and professional relationships
  • Getting the most out of the system to support your child now

Please contact us so we can discuss how to help.

Ryan Bregante was diagnosed in childhood“When I posted my first question on a Klinefelter Facebook page, ‘What are the positive attributes you enjoy about your condition?’, oh my God, I got 300 replies.” Includes links to more personal stories on the AXYS USA website. This amazing story is on our the site of our mentor organisation, AXYS USA.

Diagnosed as an adult

Perhaps you struggled in school. Maybe you always felt a little different and some of the pieces are now starting to fit together for you. Maybe you were going through fertility testing and are shocked to find yourself here.

Most adults with a new diagnosis find that knowledge is power. Treatments such as testosterone help – and sharing information is invaluable. There is lots of information, structure and support to help you process the diagnosis and learn how to make your life even better.

Our group includes people like you, who can swap tips on treatments, relationships, health issues and family. Please contact us.

Sam talks about his experience being diagnosed with Klinefelters Syndrome (XXY):

Whatever your pathway to get here, we’d love to hear from you.