Case #2 - Denial and Genetic Counseling

Hi, everyone! On TheGeneScene this week, we're exploring the powerful role of denial in genetic counseling. With a real-life case study, we'll see how this emotional barrier can affect a family's journey towards understanding and acceptance. 

A lady came to the clinic with a two year old baby. The child was fair with light hair, quite unlike the parents, was not reaching developmental milestones on time and had a very happy and excited personality. The child also had a history of seizures. (All my GC people reading this - stop here and guess the disorder!)

A genetic test was ordered that confirmed the diagnosis of Angelman Syndrome (AS). The child looked like a classical presentation of AS, a genetic disorder that occurs due to loss of function of the UBE3A gene. This loss of function can occur due to a variety of reasons. In this case, it was due to the deletion of the UBE3A gene on the maternally inherited chromosome 15. 

We have two copies of each chromosome (except the X and Y) - inherited from each parent. Of these, there are some genes that are expressed, or work correctly, only when inherited from the specific parent - father or mother. Sometimes, due to an error, both copies of a particular chromosome come from the same parent. In case of such an error, if only the maternally inherited genes on that chromosome usually work, then if both copies have been inherited from the father, the genes won't function correctly. 

This is essentially what happens in AS. Since the UBE3A gene is active when it comes from the mother, and this child had only the paternally inherited gene, it was not functioning correctly, leading to AS. 

Now to the ‘C’ in GC part - this child was the couple’s first baby, with no previous history of pregnancies. Upon getting the results, the lady came in for a session where she was informed about the results. However, she refused to believe the test. She was sure that the results were wrong and she wanted to repeat the test. She was, in other words, in denial, and did not want to believe the test results. 

Not believing the test result is a way to hold on to the hope for a cure. Denial is an extremely common defense mechanism where a person would find it difficult to accept the situation, in this case - the test result, to prevent feelings of anxiety and stress along with wanting to avoid the fact that there is something “wrong” with the child. More often than not, genetic disorders don’t have a cure and we usually depend on varying forms of management to improve quality of life. 

A defense mechanism, such as denial, is the mind’s way of protecting the self from a dangerous situation. In the short term, it buys time for a person to accept the situation and adjust to the new reality. However, if not dealt with, denial can lead to issues by preventing individuals from addressing problems or making necessary changes. In some instances, it can hinder them from accepting help or receiving the treatment they need.

In this particular case, it was important that the mother understood the diagnosis to implement management and therapies for the child. 

There are certain things genetic counselors keep in mind while addressing this situation -

Empathy and active listening can help in building rapport and trust. It also gives them the space to express thoughts and concerns without interrupting. This helps build trust and shows that we care about their perspective.

Providing clear, compassionate communication by simplifying the information in simple terms, avoiding medical jargon and using diagrams or visual aids helps understand the genetic mechanisms involved. Additionally, repeating essential facts gently and patiently along with emphasizing that the test results are conclusive helps in accepting the diagnosis.

Acknowledging the denial by gently pointing out that it is a common initial reaction to difficult news can help normalize feelings and reduce resistance. It is never a bad option to offer a re-test, based on the situation, to reassure, but it is important to explain that the results are unlikely to change. 

Providing emotional support by referring the individual to a therapist along with getting them connected to support groups for parents of children with Angelman Syndrome can be very helpful. It gives an opportunity to talk to someone who is on the same journey as them and not feel alone.

Giving a reality check while being honest yet compassionate is an important part of addressing denial. It is important to stress that understanding and accepting the diagnosis is essential for accessing appropriate therapies and support, which can significantly improve the child’s quality of life. This can be done using evidence-based facts, and gently but firmly, emphasizing the reliability of the genetic test and the importance of early intervention. 

In our conversation, we discussed that while she was hoping for the test results to be wrong, it was clear that the child was visibly experiencing delayed development and seizures. This was a reality that could not be refuted. Making her aware of this reality, something akin to showing a mirror, based on a tangible experience allowed her to move past the denial and accept the diagnosis. 

Dealing with denial in genetic counseling is not just about conveying information; it's about providing compassionate support and guiding families through their emotional journey.

In this case, understanding and addressing the mother's denial was crucial for her to start accepting her child's diagnosis and seek the necessary support.

Remember, denial is a natural response to distressing news, but facing reality is essential for accessing the right interventions and care. If you or someone you know is struggling with a similar situation, don't hesitate to reach out for professional help and support groups.

Thank you for reading this edition of TheGeneScene. If you have any questions or experiences you'd like to share, feel free to get in touch at - hello@thegenescene.in. Together, we can navigate these challenging moments with empathy and knowledge.

Stay tuned for more insights and stories in our upcoming posts.

Best,

Simran