Dealing with genetic testing with HNPP

Getting genetically tested can be traumatic depending on the outcome, but for many it is a necessity. The uncertainty of not knowing for either yourself or your family can be a harrowing experience, but what comes next may appear to be more difficult. However, a diagnosis for HNPP can help explain how conditions are inherited, in order to help draw up medical management plans and discuss further family planning options.

“There are no right answers, there are simply decisions.”

Asked on the Inspire Forum for Inherited Neuropathy

The psychological effect of a genetic disorder can vary by the nature of the condition and the relationship of a person to the affected individual. Every family is different and it is difficult to predict how people will react to a genetic diagnosis. It’s helpful to think in advance about some of the possible reactions, though, so you can react quickly and minimise distress.

Disclaimer: Please ask your medical practitioner or doctor for more information. This article is based on various research, journals and testimonies.

The following information has been taken from Understanding Genetics: A New England Guide for Patients and Health Professionals:

Patients

A genetic diagnosis can be a great relief to the person suffering from the condition.  It helps HNPP sufferers understand their disorder, especially when the condition is rare and the patient has struggled to find a diagnosis. Patients often spend years living with a condition without knowing its name or cause. Diagnoses usually lead to improved treatment options and access to support services. They can also help other family members make decisions about their own lives.

However, a genetic diagnosis may lead to negative reactions, too. The science of genetics can be confusing, and sufferers are often frustrated until they understand the nature of their condition. Anyone identified with a mutation may consider themselves at fault or interpret their diagnoses as leading to something they cannot fight. A genetic diagnosis can lead to fears about insurance and employment discrimination.

The reaction to a diagnosis varies from individual to individual.

Parents

Understandably, the diagnosis of a genetic condition may put stress on a relationship. Couples with an affected child often face difficult family planning decisions because future children may be at higher risk. Depending on the condition, parents may also be faced with hard choices regarding prenatal testing. It can also put a strain on relationships some times causing a communication breakdown. The magnitude of these decisions and their outcomes has an impact on the individuals involved and on their relationship.

Family 

Unaffected family members should not be forgotten in the case of a genetic disorder. When one family member is diagnosed with a mutation, family members who do not have the mutation often feel guilt that loved ones are affected when they are not.

“When my daughter was in junior high, she told me that if it’s hereditary, it was my responsibility to figure it out. I’ve had various inconclusive genetic tests but am hopeful this next one will pinpoint it. The info won’t affect me in any way, but maybe generations from now, it could be life-changing.”

Asked on the Inspire Forum for Inherited Neuropathy

Siblings of children with special needs sometimes feel neglected because parents need to focus more time and effort on their siblings. Including unaffected family members in the planning of care for individuals with genetic conditions can help them come to grips with their own emotional issues.

Adults who are diagnosed with a genetic condition and are considering having a child will need to consider the risk of having an affected child as well as their ability to care for the child.

Genetic test results are often complex and may be difficult for patients and their families to understand. In some cases, a genetic test may reveal the risk status of other family members who may not wish to know this information, potentially encroaching upon their autonomy or privacy.

In general, support or advocacy groups and community resources can provide ongoing support to patients and their families with genetic conditions. Support groups provide a forum for sharing experiences about caring for a family member affected with a genetic condition, coping with a new diagnosis, obtaining healthcare or other services, and healing. Members of support groups know first-hand what it means to be faced with a diagnosis and to need accurate, up-to-date information. Staying connected with their community helps individuals fight the feelings of isolation that often surround families living with a genetic condition.

That being said, knowing what to expect during the testing process can help to prepare for what’s to come.

How to prepare for a genetic appointment

There are several things it is helpful to consider and find out before your genetic appointment, these include:

• Take questions with you – Thinking through your concerns and queries in advance and writing them down to take with you
• Check where the appointment will be – Genetic centres can be based in clinics across different hospitals so double-check with your hospital
• Give details of other family member’s genetic diagnosis – If another member of your family has previously been seen in the genetic clinic, please let the clinic know their name and date of birth before your appointment. This will help them link the family information and will save time at your appointment.
• Gather as much information about your family history – You are likely to be asked for this in your appointment. Clinics usually only ask about your family history as far back as grandparents.
• If you want someone else tested who isn’t present – If your concern is about a genetic diagnosis affecting another member of the family, the clinic will need to get confirmation of the diagnosis. You may be asked to pass a consent form to your relative before your appointment.
• Ask for help if you need additional assistance – It is very helpful to let the clinic know in advance.

What does an appointment involve and what happens after?

• You will be seen by a clinical geneticist or a genetic counsellor, or both, depending on the reason you have been referred.
•  Your medical and family history will be taken.
• If needed, you/your child will be examined by the doctor.
• Where a diagnosis is known, you will be provided with information about the condition including an explanation of how it is inherited and what this may mean for you and other members of your family.
• Options around genetic testing and family planning will be discussed if appropriate.
• Support will be offered around decisions that need to be made
• If genetic testing is available and you wish to go ahead with this, then you may have a blood sample taken.
• Following your appointment it is likely you will be sent a letter summarising the information discussed.
• You may only need to attend the clinic once or several appointments may be needed. You will be told at your appointment whether you need to be seen again.
• If you had a blood sample taken for genetic testing, you should be told when to expect the results and agree a plan for how you will receive these.
• Some types of results are always given in person in the clinic or by letter.

What next?

• Genetic counselling – this involves a healthcare professional talking to you about a genetic condition or possible genetic condition affecting you, your child or another member of your family. Another important aspect of genetic counselling is that it provides support with the emotional and family implications of a genetic disorder.
• Be wary of information you find on the internet – The internet is a powerful tool for diagnosis and support but there is a lot of misinformation out there and some of the things you read might be frightening. Remember, genetic conditions can manifest themselves differently in different people – every one of us is unique.
• Connect with other people – This is a great way to share advice and support one another.
• Know your rights – Apart from coping with the emotional and medical issues related to a positive genetic test result, patients are often faced with life-changing decisions, especially when it comes to family planning and thinking about genetic testing for your children. But it’s also important to check where your genetic information is going and how it is being used so ask about it during your appointment.

To find out more information about genetic testing and counselling, here are some organisations that deal with this specifically:

• Genetic Disorders UK
• CMTA USA
• CMT UK
• Genetic Homes Reference
• Hereditary Neuropathy Foundation