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Living with a rare genetic neurodevelopmental disorder

Published on 05/08/19 at 12:36pm

Vaila Morrison’s daughter Eilidh was born with the ultra-rare condition KAT6A. As a designer and architect by profession, Vaila told Pharmafocus the ways in which having daughter with a disability transformed the way she sees the world.

What can you tell us about KAT6A?

There’s not much known about KAT6A at the moment. In total, almost 200 people have been diagnosed with KAT6A around the world. I think there’s somewhere between 10 and 15 families in the UK that have someone in their family diagnosed with KAT6A. It seems to be [de novo], meaning it’s a random glitch rather than something that is passed down within families.

What are the symptoms of the condition?

My daughter Eilidh seems to match the symptoms of what is known about KAT6A so far. She has a learning disability. She’s quite a sensory person – she’s got issues with processing, vision and hearing. She had a hole in her heart when she was born and heart issues seem to be quite common with KAT6A, and she’s got digestion problems as well. She’s very slim and she struggled to feed as a baby as well. She often gets constipated and things like that – so just general digestion problems from top to tail. So there’s a rough description of the kind of person who is affected by the condition, but there’s not much research yet on exactly what the KAT6A gene actually does and what treatments might be available to try and help people reach their potential and avoid some of the not-so-nice aspects of the condition, such as the digestion problems.

How was your daughter Eilidh diagnosed with KAT6A?

Because it’s ultra-rare, Eilidh went through all the general testing that is offered on the NHS, and they all came back within the normal range.  From when she was very small she had all the basic chromosome tests that would flag up things like Down’s syndrome, and they were all in the normal range. Eventually we went as far as the NHS go and did microarray testing, which looks at the bigger genetic picture. That came out within normal range as well. It wasn’t until Eilidh was about two or two and half years old that the geneticist suggested that we go on the Deciphering Developmental Disorders (DDD) study, which is an academic study looking at the human genome. We went on that when Eilidh was two and a half and nothing came back until she was six. We’d almost forgotten she was on the study, but they found the glitch on that gene. Once they had found that from the samples we had given them when she was two and a half, we were then all able to have a blood test done to cross reference the results and ensure that was in fact the issue. So it was not a quick diagnosis at all.

Have you found that the British healthcare system is easy to navigate as a parent of a child with a rare condition?

It hasn’t been straightforward. We’re quite lucky that Eilidh hasn’t got any kind of complex or critical medical needs other than the heart issue, which is a common symptom throughout lots of different types of disease, so that was dealt with by a heart specialist. I think the problem with being undiagnosed, and with a rare disease, is that there’s no clear pathway for you. Without having a diagnosis or something to pin things down on, you get passed from one place to the next. You also don’t know which questions to be asking, especially as Eilidh was our first child. When it’s a developmental disorder you’re not sure whether you’re just being paranoid about particular symptoms or whether these are things that will just catch up naturally. It’s quite confusing being told repeatedly that all the tests come back in the normal range when you can see that there are things that she’s not doing that follow the normal pathway. You can feel that it’s not very clear as to what you’re supposed to do and how you’re supposed to progress. Without a diagnosis you can’t really have the joined-up service. There’s no one specialist who can act as your lead or who will lead your care and set you off on the right paths. It’s all reactive – reacting to things that are right there at that particular time. So it wasn’t the easiest thing to navigate and I think we were lucky that Eilidh wasn’t critically ill at any one point.

You’re an architect by profession. What advice would you give to those modifying their homes to make them more accessible?

We are trying to design for the long term, which I think is a good solution for everybody as you never really know what’s going to happen in the future. If you’re going to do work on your home, then make it as accessible as can be, because that can then save a massive headache in the future if one of your family members becomes ill, or even if you have a grandparent who gets older and less mobile. Having had direct experience of helping a wheelchair user in the family made me keen to try and encourage people to notice these issues of design both within the home and also out and about.

What design flaws have you noticed that make the world less accessible for disabled people?

Eilidh can’t use regular toilets. She still wears nappies. That’s quite common for a lot of children with learning disabilities and other types of physical disabilities. There are others who can use the toilet but can’t get from the wheelchair onto the toilet. So there’s a type of toilet called a ‘changing places toilet’ which is a slightly bigger room that has a bench in it like a first aid bench, which can be used to change an older person. It also has a hoist which you can use to lift people onto the bench or onto the loo. These toilets are very few and far between. There has been a bit more publicity around it just now because the government are consulting on changing the building regulations at the moment on ways they could compel more businesses to put them in as a type of toilet that would be put in as standard. That’s got quite a massive impact on us in terms of accessing the world because if you can’t go to the toilet somewhere you can’t really stay for very long. You end up having to plan journeys around where you can go to the toilet or you have to make trips away from home really short. It means not just that Eilidh misses out on things but her whole family does; accessibility doesn’t just impact the one person but it also impacts friends and family. There are also more obvious things like whether there’s a ramp to the front door – things that people see because they’re much more visible. But the fact that people can’t use toilets isn’t widely understood because people don’t tend to talk about going to the toilet very much.

Had you thought about issues surrounding accessibility before Eilidh was born?

No, it’s actually a very new standard. It only came into British standards in 2009 and there’s just a mention of the toilet issue in the current building regulations which were written in 2010. My daughter was born in 2010, and so before she was born I didn’t know about it because it wasn’t in the standard, and you just assume that that is what people need. Of course, we learn new things all the time and these standards have to keep up with the fact that disabled people are more active and want to fight to be more active and have greater access to the world. It hasn’t been that long since people were automatically sent to a care home if they were very disabled, but society is changing and the physical world needs to try and keep up with that.

What changes would you like to see in the ways society responds to disability and rare disease?

I think just acceptance and inclusion. The whole genetic research is really interesting but one thing that does concern me is that science is trying to fix everything. Obviously there are some things you would want to fix if it’s causing someone pain or harm, but learning disabilities or autism or other kinds of conditions are not inherently bad and it’s important to try and get people to accept that difference is good. We don’t always have to fix anything. We have to try and allow people to reach their potential and allow them to live happier and more independent lives, but we don’t actually have to try and fix people. We need to fix society and the built environment to accept people more.

Matt Fellows

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