Alison's story

Can you tell us about your condition and how it has affected you?

Growing up I had uncontrolled movements – which were worse than now. I could not walk more than a couple of steps without my legs collapsing from underneath me with no warning. All of my muscles are affected. When I was 17 or 18, I was first seen by a doctor in London at Queen Square. They started me on Sinemet Plus – once I got up to the correct dosage I could walk with crutches. This was a massive improvement for me and my lifestyle – it meant I could go out more with my friends, and I felt more confident at college as I no longer needed to use my wheelchair at the time.

When I was pregnant with my daughter my uncontrolled movements were really good. My legs didn’t seem to collapse very much and although I was still quite worried and had to take everything slowly, it turned out well. Once my daughter was born, she had the same development delays. We were told that I didn’t actually have cerebral palsy and that what I had was genetic and she had inherited it, but at the time the doctors weren’t sure what it was that we had. We remained undiagnosed for about 14 years. The diagnosis was very strange and life-changing: I had supposedly had cerebral palsy for 30 years to then suddenly be told it wasn’t. It took a lot to get my head around it.

Our attention then was to find a diagnosis and to get my daughter all the help that she needed to help her progress. She was able to access the medication when she was a lot younger and started it when she was two. She is now nearly 16 and can walk without crutches. I believe that she wouldn’t be as well as she is now if we didn’t know what had worked for me or not worked with me, and therefore we were able to push for the right things.

Last year we were diagnosed with a genetic mutation of the NKX 2–1 gene. For myself this now presents as brain lung thyroid syndrome and my daughter has typical benign hereditary chorea symptoms. Although she is much better than me, she has symptoms similar to those that I had growing up.

Now in my mid 40s, I have progressed from BHC to BLT symptoms: I have hypothyroidism, shortness of breath, I cannot walk very far, I have scoliosis, and arthritis in my knees. I use my wheelchair most of the time outside.

Have you had any treatment, and – if so – what impact has this had?

I am on medication that helps control the uncontrolled movements. I also take medication for bladder control, and inhalers to help my lungs, and obviously levothyroxine.

I now also see a neuro doctor and am awaiting an assessment with a respiratory doctor.

Over the years I’ve had various physiotherapy but as an adult ongoing physio is difficult to get. When she was younger, our daughter had private intensive physiotherapy sessions with Footsteps. I have had various operations to help the pain in my knees, which then helps me walk a little better.

Why is research into rare diseases so important?

Research into rare diseases is hugely important. Without research, myself and my daughter would not have a diagnosis now, as most of the testing was done under research purposes. When I was growing up, I suspect that my condition wasn’t even heard about and so it’s no wonder I was diagnosed with cerebral palsy.

Research into known conditions that are super rare like ours is so important for the people who have it. The more people who are diagnosed means that more is known about the conditions. The more people that are known to have conditions means that research is done into treatments and medications that could really help change a person’s life.

What would you say to other people with a rare disease who are in need of support?

It often feels like you don’t fit in because you’re different from everyone else. Keep searching for different groups online e.g. Facebook groups. If you have had a diagnosis then look on Facebook for groups with that name. Or Google alternative names in different countries and search for groups. If you haven’t got a diagnosis I cannot recommend Swan UK highly enough (‘Swan’ stands for ‘syndromes without a name’). People on there are so supportive, and even though myself and my daughter have a diagnosis, I still find them a huge support.

You need to remember that it’s not a one size fits all!

Can you tell us about your plans for the future?

At the moment, we are just living for the fun times. The pandemic has taught us to enjoy what we can, when we can – so that’s what we do!

I work part time and am fairly happy with my job at present. My daughter is currently studying for her GCSEs this summer. So she is in the middle of sorting out college/sixth form placements for September.

Personally I would really like to find something that might help with some of the symptoms like the uncontrolled movements and the legs collapsing. Something that could work better than our current medication does. Who knows what the future holds for any of us!