XXX, also known as XXX syndrome, affects 1:1000 females, it is misunderstood, misdiagnosed and awareness is very low. For parents this can add a challenging layer who have just received a XXX diagnosis on their child.
Finding out that a child has a genetic condition can be extremely challenging for parents. It is well documented that receiving a new diagnosis can evoke a range of emotions. For some parents they may feel a sense of relief that they finally have a diagnoses and finally have answers. Although for many parents it can be an enormous shock, parents are often frightened, disturbed, upset, grieving and feel constantly vulnerable. This often is a very challenging and traumatic time in parents lives, there are an enormous amount of questions that run through their minds. A common reaction is to worry about the long term impacts upon the child and the family. Amongst many other concerns parents may wonder: “How will my child go at kindergarten or at school”, “Is there any funding to support me?”, “How will I know if my child needs additional intervention or support?”, “Are we going to cope as a family?”, “Will my child lead a normal and happy life?”.
It is important for parents to give themselves some time to process what they’ve found out and put all the pieces together. They need to remember that their child is still their precious wonderful child, that hasn’t changed just because of a diagnoses, it means that parents are more equipped to know more about their potential challenges and how they can best help them to ensure they reach their absolute fullest potential.
It is valuable for parents to engage with a Genetic Counsellor to discuss the diagnosis and to ask any questions they may have. Genetic counsellors are often a wealth of knowledge and can also guide parents to the right support networks in their areas.
For parents, that initial whirl wind of emotions and seeking knowledge on what is XXX can be overwhelming, daunting and exhausting. For many it is just the start of a long journey to reaching out and implementing the most appropriate support networks and support team for their child.
What next after a diagnosis?
Post diagnosis, the focus is usually on the child (quite rightly), and parents are often forgotten in the mix. Some parents work very hard to ensure the best interventions and support are put into place.
However, in an attempt to survive, parents often forget about their own emotional needs, it is essential that parents keep an eye on their own mental and physical wellbeing. If they feel like they need extra emotional support they should consider seeing a counsellor or a psychologist, often reliable and supportive friends are a good avenue for additional support. AXYS are also here for parents and provide a wealth of knowledge and support. We can provide one on one phone or email support and also have casual catch ups and information sessions.
Sex chromosome disorders can often 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. It is up to parents to decide on the best approach for their family and child and is their decision.
Life does not stop with the discovery of an extra X or Y chromosome, nor will your child stop growing. Life will be different, but not without many of the same joys and challenges that all parents feel in their children’s lives.
The most important thing to remember is that XXX has a very wide range of effects, signs and symptoms, the severity of which varies considerably from person to person. Many of our members are successful in their chosen fields of employment and in their personal relationships but others struggled at school, find it difficult to maintain relationships and may need some level of support throughout their lives.
Receiving a diagnoses as a parents it extremely challenging but also arms them with the knowledge and tools to support their children. We know that early diagnosis and appropriate support and early childhood intervention can make a huge difference, children with an earlier diagnosis are the lucky ones and more often than not lead a fun and fulfilling life.
Who should be involved in the care of a child with XXX?
- GP: Needs to understand the potential health impacts of XXX
- Paediatrician: Ideal if they are knowledgeable on XXX
- Early childhood intervention team: A speech therapist, occupational therapist or physiotherapist may be required as part of your child care team if delays are identified
Here are some key things for parents with a new diagnosis to focus on and ask themselves:
- 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 right collaborative health care team together
- Getting the most out of the system to support your child now, what funding is available?
AXYS are here to help and have a number of support mechanisms available depending on where a parent is at in their journey, people shouldn’t feel alone, AXYS are here.
