Processing a new diagnosis
A diagnosis of FSHD can be a huge shock for yourself, parents, siblings, extended family members and friends. It is normal to feel an overwhelming mix of grief, confusion, anxiety, loneliness and helplessness as your 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 FSHD 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 DM. Visit our page on state and territory neuromuscular organisations for more information.
- Your GP can talk to you about a mental health plan and how you can use this to help you access the support and services you need. Visit our page on Wellbeing for more information.
- Other people and families living with FSHD have also experienced the emotional rollercoaster that comes with a diagnosis of FSHD and are able to understand exactly how you’re feeling. You are not alone. Connect with other people and families living with FSHD in The Loop Community on our Forum.
How to talk to your child or others about a new diagnosis
Having a conversation with a loved one about a diagnosis of FSHD, 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 many reasons why people may not want to have this conversation, mostly centred on wanting to protect their loved ones and themselves.
But avoiding the topic is not helpful. People may have noticed differences and changes that have occurred and/or heard the condition being discussed.
So it is crucial that you have a role in your loved one 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 FSHD 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 they have heard or read
- Show them that you have faith in their ability to handle difficult conversations.
There is no right time to start this conversation. Research suggests the earlier you talk to your loved ones about your/their 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 no one has done anything wrong and this is not their fault.
- Do tell them they/you 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, just ask a couple of questions such as ‘How are you feeling today?’ or ‘Do you know why you/they are having difficulty with your/their muscles?’
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 do.
Understanding FSHD and how it’s diagnosed
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy (a group of diseases that cause your muscles to become progressively weaker) and can affect both males and females. The most common symptoms are progressive weakening of facial, shoulder and upper arm muscles and it can affect both children and adults.
FSHD Global Research Foundation states that “FSHD affects 1 in every 7500 Australians – around 3000 people. It is estimated to affect around 1 million individuals globally.”
What causes FSHD?
FSHD is a genetic condition, meaning it is caused by a mutation (a change or fault) in a person’s DNA (the parts of our cells that hold our genes and tell our cells what to do).
FSHD is hereditary, meaning the genetic mutation is passed from parents to children. However about one in three people with FSHD have no prior family history of the disease.
What are the types of FSHD?
There are two types of FSHD: the more common type 1 (FSHD1) and the less common type 2 (FSHD2) which generally have the same signs and symptoms, but are caused by different genes. They can both affect adults and children.
However, FSHD is a complex genetic condition, and the severity of the disease has to do with other factors controlling genetic expression. It is likely that more subtypes of FSHD will be identified as knowledge of FSHD improves.
When FSHD affects infants and children, they are sometimes classified as “early-onset FSHD” or “infantile FSHD”. Early-onset FSHD is much rarer, and tends to be more severe. Many children with the condition experience a faster and more severe decline in muscle function. Hearing and sight complications are also more common.
How is FSHD diagnosed?
The information below is from FSHD Global Research Foundation Australia’s publication Facioscapulohumeral Dystrophy: A guide for people living with FSHD.
“Diagnosis of FSHD may involve a combination of:
- Physical examination to assess muscle weakness
- Blood, neurological and imaging investigations to confirm a muscular disorder and rule out other causes of weakness and
- Molecular investigations to determine whether a disease-causing genetic change is present.
There are a number of ways to confirm the diagnosis of FSHD. The simplest is through a blood test where your genetics can be assessed. The only test that can diagnose FSHD and rule out other causes of muscle weakness is a genetic test.
Progressing straight to a genetic test may be appropriate for some people such as those with the typical symptom pattern and family history of FSHD.
For others it may be appropriate to perform some other tests before having a genetic test. If you have the typical pattern of symptoms expected of FSHD and a first degree relative (a person’s parent, sibling or child) with genetically confirmed FSHD then proceeding to a genetic test is probably unnecessary. Family history and evidence of symptoms is sufficient to confirm an FSHD diagnosis”
Unfortunately it can be a long journey to getting a diagnosis of FSHD due to the non-specific and varying symptoms people can experience. It is important to remember you and your family can seek support and advice from your GP, specialist and/or your state or territory neuromuscular organisation during this time.
The genetics of FSHD
FSHD is a complex condition and researchers are still trying to fully understand the genetics that cause it. Nearly all cases of FSHD involve a genetic mutation, a change or fault in your DNA). This mutation switches on a gene called DUX4 that shouldn’t normally be switched on. When this gene is activated, it produces a certain protein, called DUX4 protein. DUX4 protein is thought to contribute to muscle wasting, inflammation and damage inside the muscle cells of someone with FSHD.
FSHD Global Research Foundation’s website has explanations and diagrams that assist in explaining the genetic cause of FSHD. There are diagrams that show chromosome 4 with no FSHD, one with FSHD1 and one with FSHD 2. These are complex diagrams and you may need to seek your GP's or specialist’s advice to help explain and understand these diagrams.
FSHD usually begins before age 20, but it can begin as early as infancy and as late as after 50 years of age. The progression of FSHD is highly variable. However, most people with FSHD develop noticeable muscle weakness by their 30s. Most people with FSHD have a normal life expectancy. Although there is no cure for FSHD, medications and therapy can help manage some symptoms and potentially slow the course of the disease.
Although we know a lot about the adult form of FSHD the infantile form, and how it progresses, is less well understood.
While no treatment exists that slows the progression of FSHD, management of its symptoms can greatly improve quality of life. See the Living With Your Condition section for more information on symptoms.
Living with FSHD usually means life, and the future, looks different from what you had planned. However children and adults with FSHD can lead fulfilling, rewarding lives just like everyone else. School, friendships, sports and recreation, arts, university, work, having a family and travel are all possible when you have FSHD.
For more information about living with FSHD, overcoming some of the day-to-day challenges and where to get the right support, visit: