Lisa talks at Rare Disease UK’s AGM

SWAN UK member, Parent Rep for North Yorkshire and blogger, Lisa Beaton spoke at Rare Disease UK’s AGM about having children who don’t have diagnoses for their conditions, what this means for the whole family and the importance of coordinated care.

You can read her speech here:

Good Morning Ladies & gentleman.

I will confess, It’s both an honour and terrifying in equal measure to be here today. I have sat and thought for a great deal of time as to how to start this speech. I even turned to my trusted friend – google – for inspiration but was largely distracted by shoes and offers on things I didn’t know I wanted or needed so gave up on that plan!

Every good story has a beginning, a middle and an end so I’m told. I hope that what follows will give you a little insight into what it’s like to be the parent/carer of a medically complex child, with the added complication of no overriding medical diagnosis, just an ever growing list of medical difficulties.

We have our beginning and our middle but no ending….yet.

I am a married mum of 4. I gave up my job in the “real world” 2 years ago to take on the role of a carer since 3 of our children have extra needs. Our teenager, Harry, is nearly 16. Other than a significant case of attitude, he has absolutely no issues whatsoever . We have an almost teen of 12 – Jack, with aspergers, sensory processing and a wicked sense of humour, and our youngest children, 9 George and Amelia 7 are both SWANS – which stands for syndromes without a name.

Our youngest child, Amelia is our most medically complex. She has upper limb arthrogryposis and lower limb hypermobility. She has swallowing difficulties, can eat small amounts orally but is largely gastrostomy fed. She has issues with reflux, (despite a fundoplication) as well as dysmotility, intermittent gastroparesis and food allergies.

Amelia has continence issues related to a lack of sensation which is still under investigation, severe constipation and an as yet, undiagnosed neuromuscular condition that affects all aspects of her muscles, causing weakness and fatigue. This is felt to be her “umbrella diagnosis” but because we can’t give it a name, despite muscle biopsies, MRI’s, EMG’s and extensive genetic testing, we are stuck in a no man’s land, a watch and wait as it were.

Amelia’s neuromuscular condition means one minute she can run round like the proverbial loon, the next she can barely support herself and requires a wheelchair to get around. I’m sure you can imagine the confusion and hilarity that ensues when one minute she is sat sedately in her seat, butter wouldn’t melt and the next leaps out to explore her surroundings in more detail, only to crash and burn again some 15 minutes later or so. I have often been tempted to yell “it’s a miracle” to the confused general public.

Her activity levels over the day have a big impact on her abilities later in the day. If she has run, jumped and played like a typical 7 year old, which is of course what we want for her, then later in the day, she is less able – be that to eat & chew her food, climb the stairs, get on/off the toilet independently, dress/undress herself. It’s very hard to explain to a cognitively typical child why one day she can do something and the next she can’t. Why one day her legs are strong and able, then next they are wobbly like noodles, why she is different to her counterparts.

Amelia experiences stomach/bowel pain on a daily basis, which is not always controlled by pretty robust pain medication. She has dealt with a lot from a very young age and is often frustrated that I cannot answer her questions, make her better or promise that tomorrow will be an easier day.

As a parent, it is very hard not to have answers, dispel her hurts with kisses and calpol and make everything better. There is no magic wand and it can be very disempowering.

We only discovered that our 9 year old son George was also a swan when we moved from Jersey, Channel Islands late in 2014 and saw a new paediatrician.

From birth George experienced significant reflux and associated pain. He has not grown out of this as originally suggested and over time, things have got worse – think vomit at will – despite significant medications. He also has swallowing difficulties as well as occasional double vision and to a much lesser extent than our daughter, muscle weakness. Our new paediatrician with his fresh set of eyes stated what I had been reluctant to consider but was uncomfortably aware of: both children had too many similarities too discount and so George is also a SWAN.

As I am sure you can appreciate, with 3 children having extra needs, I spend a great deal of time attending appointments. In fact, when my post turns up, at least I can celebrate the the fact that the brown envelopes are usually appointments or medical correspondence rather than bills!

Between them, we are under 4 different hospitals and see in excess of 20 different services or specialities, based locally in Harrogate, Leeds and London. If any of you have spare funds to invest, you might want to consider fuel companies, transport and car park collection services as well as the Disney shop and Build a Bear as your funds of choice since I think we, like many other parents of medically/physically or cognitively complex children, keep these services in business.

A particular aspect I would like to focus on today is logistics. It can be very difficult to organise attending appointments, especially in-patient stays, both on a practical front as well as from a child care point of view. My husband, Martin, is a pilot who works shifts and we have no family in North Yorkshire. All my family live in Jersey and my mother in law lives in the Midlands and is 80.

Credit where it is due, she has stepped up to the plate on more than one occasion when I have had to be down in London for an extended period of time but it is a constant juggle and quite stressful in the process, especially when our aspergers son craves routine and consistency.

Co-ordinating hospital trips takes military precision and planning – think leaving extensive lists regarding lunch boxes, pe KITs, activities, homework planners and the like before I have even thought about packing the 9 medications Amelia takes 3 times a day, the syringes, giving sets, specialist milk, spare mini button etc – it’s no wonder that I have forgotten things like socks, slippers and pyjamas on a few occasions – not good when staying on a busy ward!

Even a day trip can be difficult because unless I can travel when the children have already left for school, more often than not, due to timings, this is not possible, and unless my husband is either off or on a late shift, someone needs to be able to dispatch the 3 boys to school.

If he’s on lates, then who collects our youngest and supervises homework, dinner bed and bath? Whilst my eldest is indeed capable of looking after himself, he is in the middle of GCSE’s and it’s unfair to expect him to be responsible for the other 2, especially as Jack, our aspie tends to find me going away very stressful and so is more likely to throw in some challenging behaviour issues.

Please don’t get me wrong. I am incredibly grateful for the excellent services that we are offered by the NHS and recognise we are very privileged to see so many different specialists.

Sometimes, however, I feel like a hamster on a wheel, not getting anywhere productive very fast.

I would like to tell you about a recent experience we had in a London hospital which shall remain nameless…

You may well ask why we don’t utilise more localised care in Leeds. However, bearing in mind that Amelia has been under the same care teams since she was 18 months old and we are well used to hearing the expression “she’s VERY complex” on a regular basis – from all her different specialists, added to that I have found if you put 5 different doctors in a room, you will end up with 6 different opinions, I will be honest and say I can’t face starting again, from scratch. It’s not that we haven’t given it due consideration, we really have but sometimes, it’s better to stick with the devil you know than the devil you don’t.

Additionally, we would still need to coordinate some specific aspects of her testing, such as the EMG’s etc; therefore, in our minds at least, since we have been in their system for 7 years this should – I use the word SHOULD in shouty capitals – ensure a more joined up thinking approach than transferring some bits here and some bits there. We are supported in this decision by our local paediatrician. Our London hospital have over the years also stopped asking Martin and I if we are related by anything other than marriage so that’s a bonus too!!

I have also discovered that since it takes me nigh on an hour and half to drive, negotiate the horrificness that is Leeds City centre and park, that actually travelling for 2 hours 30 on a train down to London is far less stressful!!

Trips back and forth to the nameless hospital are a fairly regular occurrence. We have tried where possible to co-ordinate known, scheduled appointments – in May 2015 we knew that Amelia would need review 6 months later by surgeons, gastroenterolgy and respiratory for a sleep study. All appointments were duly booked over 3 days in the same week, necessitating one trip. So far so good.

However, by the time the appointments were dawning upon us, and a mere 10 days before, 2 of of them were moved to subsequent weeks leaving only 1 as originally planned!

Like many complex children, Amelia’s stomach and bowel issues are such that we are in a constant state of fire-fighting rather than actually managing and preventing further difficulties. Scopes and manometry having been carried out in October 2015 had indicated a possible spinal abnormality necessitating an urgent MRI.

It transpired that we ended up with 6 different appointments over 6 weeks. None of the teams involved had liaised with another or checked if we were scheduled to be at the hospital for anything else to minimise disruption. Not one had liaised with the other departments involved.

Of course I don’t expect a hospital that sees so many children to schedule everything around my child and her needs. I do recognise the demands on every team’s time, the constraints on clinics scheduled. Nonetheless, whilst I may not have a medical degree since all Amelia’s issues are clinically relevant to her overall diagnostic picture, surely a holistic approach with joined up thinking and the team’s feeding into each other is highly relevant? I recognise that each speciality is just that – a specialist in their own field – but my daughter is more than a sum of parts and needs to be seen as a whole conundrum.

Aside from the sheer planning requirements for us as a wider family, our travel expenses are not refundable and train tickets can really only be booked at relatively short notice – we are well used to having appointments changed at short notice. Goodbye the best part of £600 for travel and no I still haven’t found the magic money tree that purportedly lives in the bottom of the garden!

I received an appointment for an MRI but it didn’t state for what. So I phoned the department to confirm that this was for her spine. Nope said the bod on the end of the phone, it’s for her forearms! I asked who had requested this. The clinician told me it wasn’t clear. Surely there must a paper trail….apparently not…So I phoned gastroenterolgy. They assured me it wasn’t them and she definitely needed a spinal MRI.

Now the forearms scan wasn’t out of the realms of possibility since it is something that neuromuscular have discussed with us in the past. As a baby, Amelia had a brain and spinal MRI to try & pinpoint issues but it came back reassuringly normal which whilst great in some ways, was not helpful over all.

In 2014 she was supposed to have a scan concentrating on her shoulders, arms and then lower limbs. Far be it from me to argue with the technician but when they spent almost 2 hours doing her legs & only half an hour on her arms, I expressed my concerns, which were poo-poohed….of course when her neuromuscular team reviewed the pictures, you’ve guessed it, the images of her arms were not specific enough and therefore needed to be redone at some later date.

So I phoned neuromuscular thinking perhaps this scan was of their doing….hmmmnnn they said…not sure….after 3 days of being promised that someone would get back to me with a definitive, answer, I received the promised spinal MRI. I phoned to confirm and said I assumed the forearm scan had therefore been cancelled…the computer says no… genius thought! I asked if the 2 scans could be done on the SAME day – 1 scan session, 1 slot, 1 appointment! The answer was a resounding no. I was to put it politely, a bit frustrated. The MRI department wanted confirmation I was keeping BOTH appointments and knowing how costly such slots are, not to mention the fact that it might be taking away a slot from a more needy child, I told them I would get back to them asap.

Que firing off slightly less polite, more desperate e-mails to try and get to the bottom of what was going on. After some toing and froing I received a phone call like this:

“Hello, are you Amelia’s Mum?”


“Ah good, it’s Dr blah blah here from blah…We have looked at all her notes and ultimately the forearms scan could be helpful but then again it might not. It is something that’s been mentioned in the past as you know but we can’t see that anyone on this team has specifically requested it. So it could be done now but it’s not essential and ultimately you need to decide whether or not you want to keep the appointment….”

At this point, I was momentarily speechless….when I had recovered my composure, I replied:

“I’m so glad I went to medical school for all those years and am therefore qualified to make this decision….oh no, WAIT a minute! That was you!!!!!!”

“Erm yes” said a small voice on the other end….It would be laughable if it wasn’t really so serious. Since they couldn’t accomodate doing one scan for everything, I told Dr Blah- blah that it didn’t seem particularly helpful or relevant to go ahead with the forearms scan and she assured me she would cancel it.

Not that I’m a control freak or anything but I left it a few more days before phoning MRI to check that only the spinal scan was still in place….guess what?! The forearms hadn’t been cancelled! So I asked them to do so. “When do you want to reschedule for?” I replied that it wasn’t relevant at this time and was told I didn’t have the authority to decide that, that they would have to speak to her referring team to say I had declined the scan – Good luck with that I said and strangely enough I have heard nothing since…

My message here today is in no way a rant against all of the hard working professionals involved but it is a plea to try and think of each family as part of the bigger picture, especially bearing in mind that those families are likely to be seeing many, many different teams, particularly if we have other children who might have their own complexities. We actually quite like a life away from hospitals and clinics too!!

Read about more about Lisa’s preparation for this talk and her other blog posts:

Lisa also features in Rare Disease UK’s Patient Experiences report on pages 18-21:

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