Processing a new diagnosis
A diagnosis of FA can be a huge shock for the person with the condition, parents, siblings, extended family members and friends. It is normal to feel an overwhelming mix of grief, confusion, anxiety, loneliness and helplessness as your family’s life has been forever changed. Everyone will have different ways of getting through this time but it’s important to know that help and support are available for you, your child and family. Hear advice on processing your diagnosis from a community member with shared experience.
Getting help processing a new diagnosis
There are many ways you can seek support as you process a new diagnosis:
- A psychologist is a university-qualified health professional who can help you talk about your thoughts and feelings to understand and cope with the challenges you and your family are facing. Visit our page on Psychology for more information.
- A counsellor is a trained professional who can help you talk about and work through problems. Visit our page on Counselling for more information.
- A social worker can provide information and support to people experiencing a range of issues including family problems, anxiety, depression, crisis and trauma. Visit our page on Social Work for more information.
- A genetic counsellor can help you understand how FA is inherited and whether there are any implications for other members of your family. Your specialist will be able to advise whether a genetic counsellor is required. Visit our page on Genetic Counselling for more information.
- Your state or territory neuromuscular organisation: can provide support, advice and information about living with FA. Visit our page on state or territory neuromuscular organisations for more information.
- Your GP can talk to you about a mental health plan and how you can use this to access the help and services you need. Visit our page on Wellbeing for more information.
- Other people and families living with FA have also experienced the emotional rollercoaster that comes with a diagnosis of FA and are able to understand exactly how you’re feeling. You are not alone. Connect with other people and families living with FA in The Loop Community on our Forum.
How to talk to your child and others about a new diagnosis
Having a conversation with a loved one about a diagnosis of FA is not easy. In fact, it will probably be one of the hardest talks you will have. But, like all difficult conversations, it is important and necessary.
There are a lot of reasons why parents may not want to have this conversation, mostly centred on wanting to protect their child.
But avoiding the topic is not helpful. Children are often aware of the differences between themselves and their siblings and/or peers and may hear their condition being discussed during medical appointments.
So it is crucial that you have a role in your child or loved ones learning about their/your diagnosis. This will enable you to support them as they process the information and to be on hand to answer any questions they may have. If you are the person with FA it will provide you with support and someone to talk to. Together, you can learn about the journey ahead.
It will also allow you to:
- Provide answers to questions in an age appropriate way
- Correct any misinformation your child or loved one has heard or read
- Show them that you have faith in their ability to handle difficult conversations.
Ultimately, these conversations are an important step in providing your child with the tools to succeed, navigate their world and develop independence and self-advocacy skills.
There is no right time to have this conversation. Research suggests the earlier you talk to your child or loved ones about their/your condition, the more natural the conversation will become. The important part is to pick a time and commit to it.
Some important do’s and don’ts:
- Do be positive but also realistic.
- Do reassure them that they have done nothing wrong and this is not their fault.
- Do tell them they will do many wonderful things in their/your life – they/you may just do them differently.
- Do tell the truth. Answer all their questions.
- Do consider your language. Try to avoid negative or emotive words, such as ‘suffering from a condition’.
- Do use daily living examples that they can relate to.
- Don’t avoid answering questions and don’t shut the conversation down.
If you are having difficulty starting the conversation, try asking a couple of questions such as ‘How are you feeling today?’ or ‘Do you know why you are tired?’
Remember, it’s okay to be upset during the conversation but try to avoid breaking down as this will only cause greater distress. And if speaking with a child, remember children are resilient and they generally handle information of this nature far better than adults.
Understanding FA and how it’s diagnosed
About FA
Friedreich Ataxia (FA) is a neuromuscular condition that mainly affects the nervous system and the heart. It is commonly diagnosed between 5 and 18 year of age. The condition progresses slowly but its symptoms and severity can vary from person to person.
What causes FA?
FA is a hereditary disease, meaning it is caused by a change or fault (also called a mutation) in a gene (the parts of our cells that tell our cells what to do). The faulty gene involved in FA is the FXN gene. This gene carries the instructions for production of a protein called frataxin. Frataxin appears to act as a storage depot for iron inside the mitochondria, the engines that produce energy for nearly all our cells. Frataxin cleans up excess iron and releases it when it is needed.
It is not yet fully understood what causes FA but it appears to be the result of a problem managing iron. The altered FXN gene greatly reduces the amount of frataxin being produced in the cells. Without frataxin, excess iron is left inside mitochondria. This damages mitochondria and leaves them unable to produce the required amounts of energy. Cells without enough frataxin are also particularly sensitive to harmful molecules (called free radicals) that can damage and destroy cells. The cells that are damaged or can’t produce enough may not function properly, leading to the signs and symptoms of FA. FA mostly affects cells in the nervous system, heart and sometimes other tissues.
How is FA diagnosed?
Most people with symptoms of FA will be referred by their GP to a neurologist (a doctor who specialises in conditions that affect the nervous system) who will use several tests to reach a diagnosis of FA. Diagnosis usually begins with a physical examination and an assessment of personal and family history. During the physical exam, the neurologist will test your reflexes, including the knee-jerk reflex. Loss of reflexes occurs in most people with FA. The neurologist will also be looking at balance difficulty, loss of proprioception (joint sensation) and other signs of neurological problems.
FA can also be diagnosed from a genetic test using a blood sample. Tests for mutations frataxin mutations are highly reliable and can be used to confirm or exclude a diagnosis of FA in almost all cases. The tests can also be used prenatally to determine carrier status. Further information about genetic testing can be found on the Healthdirect website.
Other tests that can be done for diagnosis or management of FA include:
- Electromyogram (EMG), which measures the electrical activity of muscle cells
- Nerve conduction velocity test which measures the speed with which nerves transmit impulses
- Electrocardiogram (ECG), which gives a graphic presentation of the electrical activity or beat pattern of the heart
- Echocardiogram, which records the position and motion of the heart muscle
- Blood tests to check for elevated glucose levels and vitamin E levels (vitamin E deficiency can cause similar symptoms to FA)
- Magnetic resonance imaging (MRI) or computed tomography (CT) scans, tests which provide brain and spinal cord images that are useful for ruling out other neurological conditions.
The genetics of FA
FA is inherited in an autosomal recessive pattern. This means that for a child to have FA, they must inherit two faulty copies of the FXN gene, one from each parent. The parents, who each have one abnormal copy of the FXN gene are known as ‘carriers’. Carriers do not have any symptoms of FA and usually don’t know that they have one faulty copy of the gene. If both parents are carriers, they have a 1 in 4 chance of having a child with FA, with each pregnancy.
Long-term outlook
Although there's no cure for FA, there are treatments for cardiac (heart) symptoms and ways to manage symptoms, such as ataxia (a loss of balance and coordination) and muscle weakness. Many people with FA lead active lives, working, studying, travelling married and starting families.
For more information about living with FA, overcoming some of the day-to-day challenges and where to get the right support, visit:
