Being diagnosed with an inherited form of MND

We talked to people about their experiences of being diagnosed with an inherited form of MND. This section covers:

  • Having tests and investigations
  • Thoughts about what could be wrong
  • Feelings around the diagnosis and knowing what to expect
  • Telling family and friends about the diagnosis

This section focuses on experiences of being diagnosed with an inherited form of MND, but the people we spoke to had many experiences and issues in common with others diagnosed with the disease.

Having tests and investigations

Reaching a firm diagnosis of MND can sometimes be a long process, as everyone is affected differently, and other conditions might have to be ruled out first. Whilst Liz Y was told she had MND around 3 months after noticing something was wrong, for other people it took a lot longer to receive a definitive diagnosis. It is still common for diagnosis to take more than a year in some cases.

Stuart’s symptoms were very different from his mother’s and at first he believed he would get better. He accepted he had MND after treatment for other conditions was unsuccessful.

First symptoms of MND can vary a lot between individuals. People noticed a variety of early symptoms relating to muscle weakness, often with wasting, e.g., tripping over. Some noted fasciculation (muscle twitches or ripples under the skin) or increased breathlessness when exercising or being very active. Some people we spoke to initially put their symptoms down to alternative causes such as work injuries or getting older.

People sometimes had to wait several months for a referral to a neurologist, including Sarah and Dani who paid for private appointments to be seen more quickly. Neurologists carried out various tests and investigations, including electromyography (EMG). For some people, revealing their family history of MND or FTD helped in the diagnosis process.

Telling Ken’s neurologist that his brother had died of MND caused “alarm bells” and prompted further investigations.

Thoughts around what could be wrong

Where there is a family history of MND, people may have seen other relatives affected by the disease before their own diagnosis. A few people we spoke to knew that MND “ran in their family” and that they had an increased chance of developing symptoms themselves. Dani knew what was wrong because several of her siblings had died of MND, caused by a SOD1 gene variant.

Dani had to wait six months to see her neurologist after noticing symptoms. Knowing she had MND, she found the waiting more difficult than having the diagnosis confirmed.

Liz X went to her GP soon after noticing something wasn’t right. Although part of her had been tempted to ignore her symptoms, she feels that having an early diagnosis enabled her to make the most of the time she had left and start taking riluzole as soon as possible.

Some people had seen a relative with the disease but didn’t know that it was an inherited form. For these people, their diagnosis marked the point where they realised that MND was more common in their family. Not everyone considered MND as a cause of their symptoms at first, especially where their experiences were very different to a family member’s. Others suspected that they could have MND, and recognised symptoms they had seen in relatives.

Remembering how his mum had been affected, David had a sense that his symptoms could be MND. He did some research and realised that it could be inherited.

When John’s mother had MND, it was not known that it could be inherited. John’s neurologist told him that this was a possibility when he was diagnosed.

Sarah didn’t initially consider that she could have an inherited form of MND; it could have been “unlucky” that both she and her father had been affected.

In Hugh’s case, his aunt was the only family member he was aware had been affected by MND before his own diagnosis.

Being diagnosed with MND “wasn’t a huge shock” to Hugh; his maternal aunt had died of MND and his mum was diagnosed with another neurological condition shortly afterwards.

Some of the people we interviewed reconsidered their family history in light of their own diagnosis, especially where they had seen relatives with MND-like symptoms. Alison had memories of her uncle having mobility problems at the end of his life, but it wasn’t until she developed symptoms that she thought about the possibility that he could have had MND. She did not initially realise that her mum’s frontotemporal dementia (FTD) could be connected to her diagnosis of MND.

When she was diagnosed with MND, Alison was told that she could also get frontotemporal dementia, from which her mum had died. The way she was told made a difficult diagnosis “a lot harder to take”.

Although she knew she could have an inherited form of MND, this wasn’t Alison’s focus at first, “It’s literally, ‘How long have I got?’ And you get around to the niceties, if you like, of the genetics and why, once you’ve got over ‘Am I going to be dead in six months?’”

Feelings around diagnosis and knowing what to expect

Although for some people being told they had MND “confirmed what I already knew”, for others receiving a diagnosis was a “terrible shock”, even where it was known to be in the family. David recommends taking a family member to the appointment and making a recording of the consultation, because “you won’t take in everything else”.

For people who had seen family members with the disease, it could be especially difficult. Dani led an active lifestyle and had never imagined that she would develop MND. Knowing how the disease could progress was “the most terrifying thing”. She felt alone and appreciated family and friends getting in touch. Chris described how her husband Ken’s diagnosis was very emotional for them, as they had seen how MND had affected his brother. Because Liz Y’s father and uncle were older when they became ill, she had always imagined that if she were to develop symptoms, it would be in later life, but she was diagnosed in her thirties.

Because her dad and uncle had died of the disease, Liz Y understood the “enormity” of her MND diagnosis straight away. This was helpful in some ways and difficult in others.

People we spoke to described how their diagnosis disrupted their hopes and plans for the future. Hugh and David both said they had anticipated long lives where they could continue doing activities they enjoyed. Whilst some saw MND as the “worst diagnosis”, and hoped that they might have a different disease, not everyone felt the same. Hugh had lost his wife to cancer and after seeing how quickly her condition had deteriorated, he was relieved that he didn’t have cancer too.

In spite of their feelings around the diagnosis, some of the people we spoke to felt relieved to know the cause of their symptoms, so they could make the most of the time they had and plan for the future (including putting in place plans for care and support).

Because we spoke to people with inherited MND, reactions to diagnosis also included feelings of guilt, upset and worries for relatives, as people realised that other family members, including their children, could have an increased chance of also developing the condition. However, people also emphasised that their relatives might not develop symptoms and felt hopeful there would be a treatment or cure in the future.

Telling family and friends about the diagnosis

People had different approaches to telling others about their diagnosis. It wasn’t always a shock or a big announcement, as people sometimes described having kept family members updated over the process of having tests. For some, sharing the news with other family members, friends and colleagues was difficult and upsetting.

On the day David was diagnosed, MND was on the news. This helped him to share his diagnosis with extended relatives and talk to his family about what to expect.

Liz X decided to tell her colleagues soon after she found out her diagnosis. It was just before the start of the school holidays and she wanted to “get that over with” and give them time to deal with it. Sarah also told her close colleagues soon after finding out, so they would understand the reason for her symptoms. Hugh told his friends about his MND diagnosis but only tended to talk about the familial element with close friends, to “share the burden”.

Where MND runs in the family, sharing a diagnosis can be particularly poignant. Family members may have seen relatives with MND in the past or realise that they or other relatives could be affected in the future.

For Liz X, being diagnosed with MND brought back memories of caring for her sister. She found it hard to tell her children, who had seen their aunt die of the disease.

Dani and her sister were diagnosed in the same week, which was a shock to the family who felt worried about who could be diagnosed next. Telling her children about her diagnosis was “horrible” and her daughter was worried that she could have inherited the gene variant. John let his siblings know about his diagnosis straightaway and told them that it was likely to be an inherited form, which was later confirmed through genetic testing. Other people we interviewed also talked about their experiences of genetic testing and sharing the results with family members.

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