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Living with an undiagnosed condition

Published on 17/05/18 at 11:20am

Samantha O’Shea explains some of the challenges she faces caring for her son, Ethan, who lives with a debilitating but undiagnosed condition.

When did you first notice that Ethan was developing in a way that caused concern?

It would have been when he was about eight or nine months old, we were going to playgroups and other kids were beginning to sit up and have control over what they were doing. We went to see the midwife and she kept telling me: “No, it’s fine – it’s just floppy baby syndrome. It’s very normal, it’s just a low muscle tone and it’ll all come right in the end.” I could just tell there was something wrong, I’ve got an older son so I knew he wasn’t meeting his milestones. Cognitively, he was there all there – laughing, smiling, crying. So, it was really just a physical thing.

I just kept going back to the doctors. I’m quite a persistent person, so I just kept turning up every other week and I would tell them that something wasn’t right. Eventually, we did some tests and initially they thought it was some mitochondrial issue, and after that we were immediately sent to Great Ormond Street Hospital.

After this referral, what was the process?

From there, it just got crazy. They started doing a lot of testing for mitochondrial disease, which was the diagnosis they initially gave us. It was quite a harsh diagnosis for us because that would have meant his condition was terminal. We then went into a few years of tests, doing blood tests and muscle biopsies – the scariest tests you’ve ever seen in your life. They managed to rule out mitochondrial disease but that they weren’t sure what it was, so they had to keep testing. However, we got to the point where we decided that we couldn’t do that anymore – he was getting bigger and they were making clear that there was no cure for it, but that they were just trying to figure out what it was. We got to a point where we said, “Look, this is not really benefitting Ethan”. He’d been in hospital for days and was having to undergo painful tests.

It must have been hard to leave without a diagnosis or a treatment?

It is. When they tell you that, you think: “That’s not possible. There must be something. There are millions of doctors in the world and you’ve done so many tests.” It’s scary as well, because when we asked them what it meant for Ethan’s lifespan, whether he was going to get worse or better, they’re quite deadpan and couldn’t make any promises or tell you what is going to happen.

Since the regular hospital visits ended, how have things been going?

After that, things quietened down for a bit, but then the last few years he’s been battling with epilepsy, which has taken over everything. It affects everything he does, he has seizures and we couldn’t get out of the house. In the past six to twelve months – touch wood – we’ve seemed to get that under control medically, and he’s really coming along with his physical ability. He’s trying to get on his feet, trying to pull himself up and stand. I’m like a crazy woman on a mission now trying to get him to talk! He’s always shown improvement, it’s just been so insignificant to other people but so significant to us. I think that’s what people don’t realise a lot of the time: something as simple as him pulling himself up onto a chest of drawers is a huge achievement. It’s difficult to get people, like councils or physios who have a limited budget, to get them to work with Ethan 24/7 so that we can get him walking and then hear that that’s just not possible.

How have you found the support provided by your local council or the NHS?

To be honest with you, I’m having the worst time with my council at the moment. I’m really having to battle with them; we’re actually now taking the issue to our local MP, because I’m not happy with the support Ethan’s receiving. On the other side of that, we have a lovely charity in Bedford for Cerebral Palsy, who have taken him under their wing – he’s joined their clubs and he’s just been sailing with them for two days. I find the charities are really, really good resource to people like us. The problem we were finding with Ethan is that, because he’s undiagnosed, he doesn’t fall under a particular area, like MS or Cerebral Palsy. So, holiday clubs or these kinds of places are geared up for disabled children and are designed for these particular illnesses. But, I have to say, the Cerebral Palsy local group now are really looking after him.

How has Ethan developing epilepsy changed things?

The epilepsy was one of the scariest things we’ve had to deal with – I know that sounds terrible to say because he’s undiagnosed. Up until seven or eight, he never had seizures or anything like that before, so the epilepsy has been very tough for us. It limits him; it makes him tired; he can’t go out because lots of noise or activity tends to limit him. We go with him to Australia and we just came back from Cape Town and we’d never had to carry medications with us but that changed when the epilepsy came. When it first happened, we just called an ambulance and then eventually we had an epilepsy specialist to look at him, who managed to diagnose him.

How has being able to connect with a community like SWAN UK managed to help?

Only over the past few months have I really used their services, maybe for the past year I’ve been a voyeur on their Facebook page to see what kind of things people have been posting, what kind of equipment people are using and how to fill in documents. It’s an unbelievable resource, just looking at their Facebook posts and answers. For the first year since we joined, we went with them to a safari park. The trouble is when you have a child with an undiagnosed condition, you almost don’t want to see the worst case scenario so you’re very wary. They’ve been great and now I post all the time to have a good moan – they all understand your frustrations about schools and councils because they go through the same things. They’ve been a good support to us over the past couple of months.

What are some of the day-to-day difficulties that you face?

The problem we have is I work full-time and so does my husband. We have a great routine until the school holidays come and then we really struggle. There’s so many in a year and there aren’t many people that want to be responsible for a kid like Ethan. Nurseries are out and childminders don’t often have the facilities to get a wheelchair in and out; finding somewhere for him to go on the school holidays is just a nightmare.

What have you learnt from caring for Ethan and what would you pass on to someone who might be in a similar position?

Just try things. Reach out as far as you can. You have to be the person that drives finding out about the newest discoveries and developments in treatment or equipment. In order to do that, you must stay in touch with these groups, like SWAN UK, who can pass on knowledge about this kind of thing. I can’t tell you how many groups I’ve signed up to just to keep an eye on what kind of equipment or physio is out there. It’s difficult to know sometimes whether they’ll be worth it though. I’ve driven four or five hours to get to a place and a man has come out with some kind of crystal and you think, “Oh god”. That was an interesting hour! My husband will never forgive me for that! But, you don’t know, you try these things once and then you move onto the next one. I think the thing for us is not thinking too far ahead, if you do it’s just catastrophe. If we start thinking, “What happens when he finishes school? What happens when he becomes an adult? What happens when we’re not around?” That’s when it becomes unmanageable, that’s why we stay focused on the short-term.

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