Sarah
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Sarah is 55. She is married with two adult children, who are 20 and 22. Before she retired, she worked as a pediatric intensive care nurse. Ethnicity: white British.
Sarah was diagnosed with MND in 2019. Although her father had the disease previously, she only recently discovered that she has an inherited form through genetic testing. Sarah is hopeful that this information will help future generations of the family.
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Sarah developed MND in 2019, which started with a weakness in her arm. She initially thought this could be a shoulder injury, as she did a lot of lifting as a nurse. However, when this didn’t get better, she went to her GP who conducted nerve tests. Her GP was reluctant to give Sarah the results and referred her to a neurologist. After issues with receiving an NHS appointment, she booked a private appointment. Sarah went to her GP surgery to collect her nerve test results to take with her, and saw on the paperwork that her GP suspected she had an Anterior Horn Disease, of which MND is one. Around this time, she also started to have fasciculations (involuntary muscle contractions), something her father, who had had the disease when Sarah was in her 20s, had also spoken about. The neurologist gave her a diagnosis of MND, which unfortunately confirmed what she already expected.
Initially, it didn’t occur to Sarah that her MND was inherited; it could have just been “unlucky”. However, after she was diagnosed, the family started to read more about MND and realised this was a possibility. Sarah was offered genetic testing when she went for screening to take part in a research study. She had the genetic test and recently received a phone call from the consultant confirming that she has the C9orf72 genetic variant. Sarah describes feeling guilty and sad that she hadn’t stopped the disease in her family. However, she feels that in a way it is positive to have this information, which may help her children and nephews make future decisions around things like starting their own families. After being told by the consultant about pre-symptomatic genetic testing, Sarah’s daughter and sister are considering this option.
Since developing symptoms, Sarah has made changes to her life. She can no longer do work in the house and garden and needs help from her husband with personal care. She has retired from her job, which she had planned to continue for some years, and is preparing to make adaptations to her house. Going out is becoming more difficult, and Sarah has had to give up activities she previously enjoyed, like walking holidays.
Sarah has had physiotherapy and hydrotherapy to help with her symptoms, and has seen an occupational therapist, who has arranged supports and aids. She also uses alternative therapies, such as taking turmeric for aches and pains. Sarah has started to plan for her future care and has signed a Do Not Resuscitate order (DNR) to ensure her wishes are respected. From her experiences in intensive care nursing, she is aware of some of the challenges she may face. She does not want certain interventions like ventilation, if the life she will be living is very different to the one she had before.
Sarah is disappointed that treatments for MND have not advanced significantly since her father was affected, and is keen to participate in research and trials around the disease. She feels that a treatment will not come soon enough for her, but her attitude is “if I have this disease, I might as well be useful”. Joining trials has been difficult due to COVID-19, which has caused delays and disruptions to such studies, and whilst Sarah would like to have this opportunity, she worries about the practicalities of travelling as her disease progresses. Sarah encourages healthcare professionals to keep in mind that finding out about an inherited form of MND can be upsetting for people. However, she is hopeful for research progress in the future.
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.
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.
Well, initially, my father had MND 32 years ago, and as he was the only member of the family – to our knowledge – to have had it, because lots of other members of the family died from cancer, there was no suggestion that his was inherited. And at the time, there was not much information he was getting, so it didn’t occur to us until my weakness started developing last March. That was 2019. And as a paediatric intensive care nurse, I did do quite a lot of lifting, so I initially thought I’d injured some nerves in my arm and given myself a shoulder injury from lifting. And it wasn’t until the arm became weaker and weaker, and after being on holiday it was getting harder and harder to use my fork in that hand, I decided to go for testing to see if it was nerve damage, or in my mind, it was coming to be MND by that time.
So it sounds like when your dad was diagnosed it, it wasn’t something… was it something you even thought about, or was it something that you didn’t even consider until a lot later, about it being inherited?
It didn’t occur to me it would be inherited until I, until I started reading when I’d been diagnosed, because it, it could have just been unlucky. I could have had a different gene.
After being told she carried the C9orf72 gene variant, Sarah felt “guilty”. She said it was disappointing, “but at least there’s proactive things you can do about it”.
After being told she carried the C9orf72 gene variant, Sarah felt “guilty”. She said it was disappointing, “but at least there’s proactive things you can do about it”.
It didn’t occur to me it would be inherited until I started reading when I’d been diagnosed, because it, it could have just been unlucky. I could have had a different gene. And when my dad was being tested, he was undergoing research for epidemiology tests, like was it mercury, was it travel, was it the vaccinations he’d had or where he had been in the world? They were looking at all those things that were linking it to be triggered. So my, because I worked in the field with children’s nursing, adult nursing didn’t really… apart from donating money to the MND Association after losing my dad, it didn’t really occur to me that it was going to be inherited at the beginning of the journey.
I felt guilty and, and sad in a way that I hadn’t been able to stop the process of the gene pathway through the family. But it’s quite good that my children haven’t yet had children and that two of my nephews haven’t had children, so there’s still a chance to knock it on the head from the other members of the family.
Sarah retired earlier than she would have liked to but felt lucky to be able to take her pension at 55.
Sarah retired earlier than she would have liked to but felt lucky to be able to take her pension at 55.
For a start, I hadn’t planned to retire as early as I have done. I had planned to go a bit longer with the vision of supporting my daughter through university for a bit longer, save up some more money and to go on walking holidays because I’ve done one of those in the past. I’ve retired earlier than I would have liked to, because I was, before I got this disease I was feeling invincible and I could go for another five years, but luckily I’d stayed on the pension that allowed me to retire at 55.
Sarah has written a Do Not Resuscitate order. Her decision was informed by caring for her father, who died of MND, as well as her experiences as a children’s nurse.
Sarah has written a Do Not Resuscitate order. Her decision was informed by caring for her father, who died of MND, as well as her experiences as a children’s nurse.
We were talking a bit about planning for the future, and it sounds like you’ve done quite a lot of practical stuff already.
Yes, I was talking about a DNR and… really, for the… because of my knowledge through intensive care, so I know at some point I won’t be swallowing very well, I’ll be aspirating secretions, I may be choking on my food, I don’t want to be ventilated because I know that I’ll be even weaker after that, and really, people in intensive care as an adult should be the ones that are going to get out of intensive care. And if you can’t do all the things you want to do, such as walking, making cakes, cleaning, going out, then life is very different.
Sarah is disappointed that in the 32 years since her father has died, there has been little progress in treatments for MND. She would like to take part in research to be “useful”.
Sarah is disappointed that in the 32 years since her father has died, there has been little progress in treatments for MND. She would like to take part in research to be “useful”.
I’ve asked to be involved with anything while I’m… I’ve basically said they can use my body as a guinea pig. I would like to be involved in a trial, if I have this disease, I might as well be useful.
And what are your motivations for wanting to or being willing to take part in research?
Because I’m a bit disgusted that 32 years have passed since my father had died, and the only medication available has a chance of increasing your life by two to three months, you know? …It sounds like things are quite hopeful, but I don’t know how soon it’ll be to get the treatments online that they’ve had some positive research for, so far.