There are many mixed emotions and it is a rollercoaster of varying reactions, from excitement of being pregnant to grief, devastation and worry and back to excitement.
Often there is a large element of shock involved when a prenatal diagnosis of XXXXY syndrome is received, as many expectant parents are unaware and haven’t been informed that this is a possible condition that can be identified on these prenatal testing. It’s deeply distressing when a problem is picked up while a couple or individual is pregnant, it is important to go through all the emotions of a new diagnosis often associated with the emotions present in the cycle of grief, which include; denial, anger, depression, guilt, obsession and acceptance. It is very important for expectants parents to know that it is completely normal to go through all these emotions it is extremely important to seek support if needed. Due to how uncommon XXXXY is and the lack of available information this can often add another level of stress, anxiety and grief.
If the prenatal testing was done via the NIPT or Harmony test where they draw blood from the mother it can lead to confusion, worry and pressure as the test only gives a percentage of likely diagnoses. It is often a challenging time where an individual or couple try and make a decision on what to do next and whether to get a confirmation of diagnoses or not. There are 3 ways to get a 100% confirmation on these results; samples of the unborn baby’s DNA can be obtained through amniocentesis or chorionic villus sampling (CVS), or waiting for the little one to arrive and having a small blood sample taken for analysis. Prenatal testing like amniocentesis and CVS are invasive and can have a small risk of causing a miscarriage. It is important for expectant parents to take their time in making this decision which can often feel completely overwhelming, but there is support available.
Couples or individuals may decide to talk to friends and family or hold off until they have gotten their head around the issue. They 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, making expectant parents feel isolated and more stressed.
It’s important to know that AXYS are here to provide one on one phone or email support and it is also highly recommended for expectant parents to see a Genetic Counsellor.
Expectant parents will have a lot of questions, a big one will be why did this happen? It is caused by a random error in cell division in the egg cells of the mother. During normal egg formation the chromosomes separate into separate eggs. If they don’t separate correctly one egg ultimately retains all the X chromosomes and if an egg cell containing four X chromosomes is fertilized by a typical male the resulting egg cell will be affected. The underlying reason for random errors in cell division is not known. It is also important to know that it is not inherited, and it doesn’t mean any future children will have a chromosomal variation.
A pregnancy with an unborn child with an XXXXY syndrome diagnosis may need to be monitored more closely than other pregnancies as often they have delayed growth which is evident in utero. Expectant parents should engage with an obstetrician, midwife, GP or maternity hospital like they would any other pregnancy and discuss a plan for monitoring the baby.
Many babies with XXXXY are diagnosed shortly after birth as a result of a chromosome tests run due to their small genitals, an unusual shaped head, unusually formed ears and broad forehead and low muscle tone which is very common in babies and children with an XXXXY diagnosis.
The internet can be a scary place and can further impact on the stress, worry and sadness new parents are feeling. There are problems and challenges that will be associated with XXXXY syndrome, early intervention will help alleviate some of these.
As overwhelming as it initially, having a prenatal diagnosis allows parents to help their child live a fun, fulfilling and happy life. Early intervention is the key. If a child shows delays in speech, language, motor skills and social skills and needs assistance, initiating and implementing early intervention will ensure they get the support the child needs, it makes a huge positive impact. Some children will need minimal early intervention.
At AXYS we have a network of fantastic parents and professionals and are here to support expectant parents, it’s important for people to not feel alone in this journey and they are certainly not alone. We are here to offer support, guidance and a listening ear and put people in contact with individuals who have been through a similar journey.