The first neurological symptoms of Niemann-Pick C disease (NP-C) vary with the age of onset: from early delays in developmental motor milestones in infants to gait problems, falls, clumsiness and problems in school for those with a juvenile onset.

Helen and Callum have three daughters, Shona, Kelsie and Tally. They are a loving, close-knit family whose lives were changed forever when first Shona, and then Kelsie received a diagnosis for Niemann-Pick Disease Type C (NPC). NPC is a rare inherited neurodegenerative disease that can affect infants, children and even adults.  The age of onset and the way and rate the disease progresses can vary greatly from person to person. Whilst some children might develop neurological symptoms early on others like Shona and Kelsie remain symptom-free for years.

Shona

Shona is 21 years old and has Niemann-Pick disease Type C (NPC). Helen and Callum first started to notice that Shona was stumbling and falling more when she was about 13, and initially mistook it for teenage clumsiness, but it didn’t go away. They eventually received a diagnosis for her after she’d had a series of blood tests at the local hospital, and the results came back positive for NPC. The diagnosis was given to them just a few months before her 16th birthday, although they waited until a few weeks after her birthday to share the diagnosis with her, in part as they needed time to try to come to terms with the diagnosis and to grieve for her lost future. Following her diagnosis the whole family was tested, resulting in her younger sister Kelsie also being diagnosed with NPC, and her youngest sister Tally was identified as a carrier of NPC which has the potential to impact any children she might one day chose to have.

Shona hasn’t let NPC stop her from doing things and from achieving her goals, however, she does acknowledge that she has limitations and knows what she can and can’t do. In 2017 she took part in the Children in Need Rickshaw Challenge which is an achievement that she is rightly very proud of. She told us;

The Rickshaw Challenge was really good. It was exhausting, and the rickshaw has been upgraded since I did it. The best thing about it was the team. We had a team of people from all different backgrounds, there was someone who had to have dialysis while doing the challenge so she got the early shift on the mornings when she didn’t have dialysis. We all did 3 or 4 hours on the rickshaw, I started at Salford in Manchester. In practice for the challenge I visited the bike track near where I live, I went and practiced there in the weeks running up to the challenge.

Shona now has support workers who help her with her day-to-day life alongside her family. She loves to read and write, and also bake which she can still manage with her support workers or under her parents’ supervision. Support is also in place from the Calman Trust which is a provider for people with additional needs. They have given her the responsibility of being a writer working on pieces for the trust’s newsletter, the Calman Courier. She really enjoys writing, and she always wanted to be a journalist when she was in school. Speaking about her work on the Calman Courier she told us proudly that;

They offered me a chance to become a journalist with their newspaper, and there’s a chance in the next addition that there’s going to be a book review I can do. I read a lot, I’m reading ‘Percy Jackson & the lightning thief’ right now.

Kelsie

19-year-old Kelsie is one of 3 sisters from Inverness, Scotland, and she has Niemann-Pick Disease Type C (NPC), as does her older sister Shona. Her younger sister Tally does not have NPC although she is a carrier, which means that it may affect any future children that she might have. Kelsie was diagnosed when she was 16 years old, a few years after her sister Shona’s diagnosis. For now she just gets on with her life, when asked about the impact that her NPC diagnosis has had on her she replied that;

I know I have it because it’s in my blood and they did tests that show I have it, but I guess, if I’m not showing symptoms by now then I don’t think it’s going to happen, ever!

Kelsie is very close to her younger sister Tally, they connect more than she does with her older sister because they have a lot of similar interests and enjoy the same things. Growing up she didn’t have a lot of friends, which was hard at times.

My school was nearby, about a mile away. I had like no friends at school, so school was tricky. My parents just want to see me happy and stuff and I didn’t want to disappoint them so I just didn’t say anything, but I could tell that they knew that I didn’t have very many friends. I had a couple of friends that I could count on, but the people I made friends with would often get bored of me or something.” She takes her time when talking, thinking carefully when she shares that “I think that what I say around other people links to my sister’s condition, to my condition, because I obviously can’t just say whatever. I have to think it through before I decide if it’s worth saying or not, unlike other people.

During the pandemic, because of her NPC, she had to shield a lot and says she found the early days of shielding a bit boring but she is more of a home bug than an outdoorsy person anyway, she told us;

I’m not the one that loves exercise, I’d rather not do any but if everyone is going out I will go out with them obviously but I’m more the one who hopes Dad will forget about going on a walk.” Today she leads a very busy life and explains “I have college every day of the week and on the weekends if I’ve not finished I’ll do some of my work on a Saturday afternoon. Sunday is a family day, so I’ll do stuff with my Mum and Dad and sisters, or I’ll do stuff I want to do. On Saturday mornings I volunteer at a charity shop and on Wednesday evenings I have started going to a crochet class, a knit and natter.

Kelsie is optimistic for the future and is currently studying. Talking about her future she says;

I’m doing an online college course, a Diploma which could lead to a BA (Hons) in Child and Youth Studies. I hope to go on and do my PGSE. I’d teach any age in primary school but I don’t want to teach secondary because I don’t think I could handle not yelling at them about their attitudes. Education is so important to me, so important. Eventually, I want to move out, once I have a stable job and income. Inverness is home but I think I want to explore the world first and then maybe settle down.

UPDATE: Since we spoke to Shona and Kelsie they have both celebrated birthdays and are now 22 and 20 respectvely. Kelsie passed her diploma and has started her degree year, working towards a BA in Child and Youth Studies at University of the Highlands and Islands.   Their younger sister Tally is 18 and has just started at University of Glasgow, studying medicine. 

Niemann-Pick UK

Niemann-Pick UK (NPUK) is a charitable organisation dedicated to making a positive difference to the lives of those affected by Niemann-Pick diseases. They raise much needed awareness, provide practical and emotional support, advice and information and facilitate research into potential therapies.

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