22nd October 2010

So Thursday at five to four I got a message on my phone from Incontinence service to phone back. She doesn’t sound happy. I wonder if it’s because she was expecting to speak to Mr Effie. However, he’s away in Greenland getting ready to run a marathon on the polar icecap. After mentally girding myself for a half hour to reply –

“Have your pads arrived yet?” “Nope”

“Oh I was told by Hartmann they’d be with you today, and they told your husband that too”

“No, they guessed Thursday to get him off their backs, they actually said Friday first till his voice rose an octave and backpeddalled it to Thursday”

“Well I’ll go and find out what’s happening”

Rung back, yes the pads did arrive with them, but they didn’t make it onto the vans coming to Scotland on time so definitely tomorrow.

OK. On their letter we’re scheduled to get 9 packets ( 4.5 daytime pads a day ) but we need 12 ( 6 daytime pads a day )

[Wait. There’s a lot of “days” in that sentence. I apologise.] [and what’s with the 0.5 pads a day???]

You’re down here for 12 packets.

Well, that’s really great if they come. Then we’ll be back bang on schedule with the nighttime delivery. ( and I can stop sweating )

The pads just arrived 10 minutes ago.

9 packets.

I despair.

It’s now 6pm and the whimsical thought just occurred to me to rip all the pads out the packets, lie them on the floor… stick on a swimming costume and lie on them a la “American Beauty”

However I’ll refrain for now. 😀

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As part of bringing my old blog forward, I was reading this old post from 2010, when Joff was still at school. Classic gatekeeping vs parent situation. I describe below some of the simple toilet training we were trying at the time with Joff.  Sadly, it didn’t work out and he’s still doubly incontinent 24/7.

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This post was written on Tuesday 19th October, 2010, and first posted on a discussion forum.
I used a technique like this before when I was very upset and angry at how services were going for us – to let people in the general public know how lack of support affects us, and then forwarded a hard copy as a complaint.
I still haven’t decided if this will become a complaint as I don’t think our local Health Board will recognise it as such.
However, the facts remain that I am very angry and disappointed with the situation.
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I’m gonna set out my stall here then encourage as many people as I can to read it because I think this story, this situation, is disgusting. I’m savvy enough to realise that with all that’s gone on in Team Effie’s house this year that I’m likely to be reacting somewhat more to this situation than I would normally.
However, the facts remain that we have the incontinence supply blues.

For those who don’t know, our profoundly disabled son Joff is 16 and doubly incontinent. To cope with this he uses disposible nappies supplied by the NHS as is his right from about age 3. To be more age appropriate for him, we call the nappies pads.

I actually thought that incontinence was essentially par for the course for Lowe Syndrome, but in fact the majority of boys with LS achieve some degree of control of bowel and bladder control, and many are fully toilet trained, delayed in some cases, sure, but Joff is actually in the minority of boys with LS who are doubly incontinent at his age.

To me it’s a mulitfactorial thing, his delayed neurology means that the sensation of bladder fullness, urgency or being ready to go are likely to be missing or misinterpreted. I’ve certainly never seen him squirming or clutching in the way a toddler often will do before they need to visit the toilet.

His kidney disorder, Fanconi syndrome, means that almost all the liquid that passes through his kidney for filtration is sent afterwards right to the bladder, in effect, it’s a water concentration defect as he cannot produce a dark urine as you or I would when thirsty/dehydrated. It also means that urine is continually trickling into his bladder and perhaps he never achieves a full bladder as he would just wee it out just as quickly as it is produced. Overarching this, he cannot be fasted from fluids, unless in a hospital setting.

His phosphate medicine, taken three times daily, causes an effect similar to diahorrea – such that I’ve only seen a normal looking poo from him two or three times in his life, all when he was dangerously overdosed on calcitrol medication. I asked in the past about taking a medication to firm up the stool as, to be frank, it is a shitty job to clean him up. His doctor reports that it can be done, but if you go too much the other way, the ensuing constipation is potentially medically dangerous to undo, especially if you use osmotic medications which would interfere big time with his already fragile fluid balance.

Lastly, his learning disabilities mean that he is socially and physically oblivious to being in pads. By that, I mean it doesn’t embarrass him to be in pads, and it isn’t uncomfortable for him to be in an overly wet or soiled pad. If he wets/soils his clothes, his bedclothes, his wheelchair, his car seat, the carpet, a mattress – it’s all one to him. It’s certainly not all one to us. He depends on us utterly to maintain hygiene in his personal care as well as his dignity. I appreciate that I’m talking about his personal care publicly, but this situation needs to be read about and understood by more than Team Effie and families like us.

More than a few months ago I contacted the local incontinence service to discuss the product Joff uses as we were getting a lot of leakage. The reasons for leakage are multifactorial too, and I’ll say something about that in due course. However on this occasion, the incontinence advisor came to the house, saw me putting the pad on Joff and said that the leakage was happening because I was folding over the top of the pad before taping it shut and thus creating a problem. So I stopped doing that and things seemed to settle again. The lady declared that it was probably better for Joff to use a smaller size pad and she would sort us out some to try. Well, the samples never appeared and because it seemed so counterintuitive to what we’d seen as the solution; moving up a size, I never chased the small samples up.

Over the period of time since then, we’ve had a truly miserable time with Joff’s incontinence, mostly his weeing. On an average week, we will have about 5 or 6 washloads purely dedicated to clothes and bedding that he’s wet. Over and above the washing generated by a family of 5.

Some of the causes are.
He is simply getting bigger, drinking more and producing more wee.
Although the pads say they fit up to size 80cm waist, the gusset (as such) isn’t coping with the volume of urine produced.
He is sometimes having erections and so he is weeing out the top of the pad as he doesn’t have the nous to push his penis to point back downwards.
Some staff at school change his pad standing up and not achieving the best fit they could. This is currently under negotiation.
I feel that sometimes Joff wees, it fills the front of the pad and doesn’t wick backwards, so the next wee he does has nowhere to go but out the sides.

Some recent plusses.
He is coping with sitting on the toilet these days when we take him. When we take his pad off we now take him to sit on the toilet. On average he will have a bit of a wee perhaps 4 or 5 times out of ten. Nothing spectacular, but we hope that he will eventually make a connection in his head as to why he sits there and what happens after.
Previously, he really panicked sitting on the toilet, he had no idea why he was there and would hold onto your neck for grim life till you took him off. There is currently no way for him to ask for/anticipate needing the toilet and he still isn’t uncomfortable in a wet pad so we’re in a bit of a developmental stalemate as well as being limited by the supply of pads – perhaps if we had pull-ups that would make the proceedings a little easier. You see, pull-ups in the NHS is the gold standard of product. I have no idea how you’d go about getting them. That’s a pipe dream I don’t even allow myself.

Incontinence services up and down the UK are notoriously oppositional.
More than many parents and patients, I suspect, I sympathise and understand that there is a budget to stick to. Joff’s allocation is more than most because of his medical background and had to be backed up by a letter from the school paediatrician. Joff is allocated 6 daytime pads and 1 overnight pad, which has a better absorbency but bulkier to wear. I don’t know what the “normal allocation” is for patients in Fife, we service users don’t get to find out such things, the service is cloaked in secrecy.

No service level agreement, no checks with users about how the service is going for them, no clear path as to who to complain to if the service is going wrong.

For instance, when we first came to Fife the pads supplied were made by Tena. They were soon changed to a product by Paul Hartmann, a German company, whose various pads are called Molicare, or Moliform.
We had a meeting at the school hosted by the then incontinence advisor to allay fears about the new product.
We were shown just how amazingly absorbent they are, and all the advantages. Then she came out with this pearler… ( conversation paraphrased as far as I can remember it )
“when you take the pad off for your child to try using the toilet, and it’s not too wet, you can put it back on them afterwards”
One mum said, “my son can sit on the toilet for up to 25 minutes before he decides if he’s going to use the toilet, and you’re telling me to put a cold wet pad back on him after.”
“Oh yes, they’re very good to the skin it won’t cause infection etc.”
One lone dad who was there said, “how would you like it if I said to reuse a used sanitary towel after a bath/shower?”
“Oh that’s not the same thing at all, we want you to use these pads to their capacity and not throw them out just because there’s a bit of urine on them”

In another area of the UK, a man was told by his advisor to dry his wife’s wet pads out on the radiator before reusing. In Cornwall I heard that they were substituting disposable pads with a one off supply of a dozen terry towelling nappies regardless of the age of the client. Round about that time we were given a number of packets of pads in Joff’s size that another parent’s child had grown out of. This meant that we had a surplus, and the rumour going about at the time was that Fife were going to be cutting back everyone’s supplies so we continued to take Joff’s quota even though we had extras. Thus is the system that’s engendered. People are wildly conservative of personal supplies because we can’t be sure of future continued supplies. Recently though, we discontinued Joff’s supply to use up the backlog ( no pun intended ) and then had to begin again recently as we used the spare ones up.

Bloody idiots we were. Idiots.

The last delivery of pads to our house at the end of August ( they come in batches of 8 weeks supply at a time ) had a delivery note that said that Joff was sent a shorter quota of 4 pads a day and one overnight for that cycle. On Wednesday last week school asked for their customary packet of pads and I sent a packet in on Thursday morning…then utterly panicked when I realised that it was our last packet of daytime pads. We still had two packets of nighttime ones which is what threw me, I thought our next delivery was last Thursday.

So I phoned the incontinence service and told them that we had enough pads to last us till Saturday afternoon with our next due delivery at the end of October. Firstly I was told to reclaim pads from school as we have a fortnight’s school holidays just now. Secondly I was told his allocation was 5 and not 6. Thirdly I was told not to send packets into school, rather I had to send in a daily allocation ( somehow guessing how many times school would change him that day and send in that amount of pads – the reason being that if you sent in a packet the school would “use them” ) Fourthly I was told that the soonest a delivery could be made to us was today, the 19th Oct. ( see, Chile can rescue a miner in 3 hours, but a delivery of pads takes 5 days to appear across Fife )

The advisor and I had a meeting scheduled for Friday last week at 3.45 so that she could see how wet Joff usually is getting off the school bus. Friday morning I was in school, humiliatingly asking for pads back. When I got home later that morning, I was greeted with an answer message from her to say she had an emergency meeting at 3.30 that day and she would phone this week to reschedule.

I was so relieved. I never had dreaded a meeting so much. Me, aye, me who regularly takes on people from all services on Joff’s behalf. Part of me was ready to burst into tears, and the other ready to let rip at being put in such a vulnerable postion, being lectured about what pads I send into school…( HOW DARE THEY!) and generally feeling that the tone was – well if you’re going to have a child with disabilities, how can’t you have one that’s toilet trained.

So the weekend passed, and last night I had a restless night thinking of the supply coming today…would it be a full delivery, or a short one to catch up to the nighttime pads at the end of the month…and as the woman never phoned since Friday, when would she want to visit again.

We got a letter this morning directly from Hartmann, dated the 15th Oct. We don’t have supplies of your product, and we apologise for the inconvenience.

Now I don’t know about you, inconvenience to me is not getting a sandwich filling you wanted, running out of milk when the shops are still open, missing a bus and having to get a later one. Not having any incontinence supplies for someone who is permanently incontinent is a catastrophe.

Mr Effie phoned the incontinence service and asked them “what next then?” Lots of umming and ahhing and a promise to phone back. He called Hartmann who knew about the delay to deliveries last week – so I’m guessing that the emergency meeting last Friday afternoon was possibly something to do with that. Hartmann said that they thought products would be with them today and in Fife on Friday. Friday!!? says Mr Effie. Well, Thursday possibly.

Incontinence service calls and says that they’re reiterating that we’ll get supplies on Thursday as told to us by Hartmann. No, Mr Effie says, possibly Thursday…and that was said to keep us sweet. So what do we do till then? We have one packet of overnighters here you can have. You have to collect. ( so buggered if you can’t drive, don’t have access to car during the day ) He drove an hour to get the pads.

Incontinence lady was told in no uncertain terms that if the delivery didn’t come on Thursday that further supplies would be sent to our house – no more collection by us. She was told that we would continue to send a packet of pads into school on request, a system that has worked and worked well for 12 years. She was told that she would be dealing with him from now on as I was too upset and distressed by her attitude.

Now I have a friend who has been in various high heid yin roles for various national children’s charities, here and in NI. She often talks very knowledgeably about the politics behind services like education, health and social services. One of her recurring themes is of the professional as a “gate-keeper” to services. You have to fulfill conditions to get the support you need.

Never ever have I felt the gate keeper effect more than this week with this incontinence service and it is utterly hateful.

Have you ever been out and about and really really needed a toilet and remember the utter relief when you get somewhere because there is an underlying fear about wetting or soiling yourself. Imagine being told when you got to that blessed toilet that you’d already had your quota of weeing and pooing and you had to essentially negotiate the use of that toilet?

This has been a long post and isn’t quite the full story, but it’s enough for you all to get the flavour of the oppositional, idiotic, distressing beaurocratic hoops we have to jump through to achieve a support service for our son.

It isn’t the only support we need, but it’s pretty high up on the importance list. And day in, day out, we’ve still got all the demands our young man places on us and I think that this is a prime example of uncompassionate support.

21st century Scotland, you can only go to the toilet if we let you.

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I’m sending this to the blog at 2pm on Thursday 21st Oct and I still have no forecast from our incontinence service or Hartmann as to when Joff’s daytime pads will appear with them or with us.

So during this October school break, we are confined to the house until they appear.

That’s how I like to spend my precious time…waiting for help.

When I published that last blog post, I had a brief chat with someone on Twitter about how I’d looked back on those early days with the thought “how the hell did we cope?” And of course we did, but it wasn’t like a conscious process, we just went with what was thrown at us.

Joff’s eyes are microphthalmic, which means his eyeballs are smaller than usual, he also had non-working pinpoint pupils and a few months on, had more surgery to widen his pupils permanently to let as much light in as possible. He also has constant pendulum nystagmus, a side-to-side flickering movement, which lenses help with a bit.

So these days when I look at a new-born’s eyes, I think, how did we cope taking Joff’s lenses in and out? Our first appointment to do with his lenses was in the infamous Eye Infirmary in Glasgow, just off Sauchiehall Street. Our experience over the years has taught us that eye clinics are crowded, difficult, noisy environments, where the appointments run over time massively. The lady we were seeing was not very empathetic to us. She told us we could either prise the lens out by trying to use the lower eyelid to catch the bottom edge of the lens or use a wee rubber device that acted as a wee sucker to pull the lens out. Both ways seemed horrible and we didn’t have any success in the clinic. It was a fraught appointment and didn’t fill us with any confidence in ourselves. A 300 mile drive to feel like utter crap in helping our wee baby.

Luckily, a new-born’s eyes don’t produce that much protein in their tears, so we could safely wait two weeks between getting the lenses taken out and cleaned. We decided to transfer Joff’s eye care to Aberdeen, much closer in mileage, but not in travel time on the busy but rural A96. We’d troop over for a 10-15 minute appointment, spend an hour and a half travelling each way and an hour and a half waiting in the hospital, not easy with a new-born and a toddler. Our doctor there was massively nice to us, he made us feel that we were doing everything we could to promote Joff’s vision, including wrapping tinsel round the handle of his car seat because it was so sparkly and eye-catching. So what if it was October?

One time, after another long and exhausting day visiting the hospital, Mr Effie took the wee man out his car seat and disappeared upstairs with him. He said, “don’t come upstairs and try to ignore the crying”. He wrapped Joff tightly in a shawl, laid him on our bed and knelt over him then proceeded to do all he could to work out how to remove Joff’s lenses himself. The wean gret and gret for ages, it was bloody heartbreaking to listen to, but after about 20 minutes Mr Effie yelled, “I did it!” And thus began our wee double act….Mr Effie would take the lenses out, clean them, and when they were ready, I’d put them back in. Taking a lens out (our way) feels a lot like pulling the skin of your eyelid forward (with added tears). As long as your hands are clean, your nails are short, and you avoid touching the coloured part of the eye, it’s quite a straightforward thing. After a short time, we both learned to take them in and out with ease.

So the hospital continued to check Joff’s eyes and clean the lenses fortnightly, we were taking them out ourselves weekly. When the cleaning regime was moved to weekly, we were already cleaning them daily. We knew that if Joff developed an eye infection we could take the lenses out immediately ourselves, we didn’t need to traipse over to Aberdeen, in the absence of having anyone local who could deal with them. It felt good to have that control and the wee man got on great with the whole thing. By the time Joff was 6 months old, we were doing occasional mentoring to parents of other young children diagnosed with a cataract and fitted with a lens. I like to think we gave a lot of confidence to these parents, and wished we’d had the same.

By the time Joff was about 18 months old, a paediatric ward had opened up locally with a great eye doctor so we didn’t have to travel as far or as often. This doctor registered Joff as blind, though blind doesn’t necessarily mean you can see “nothing”, but it was a recognition that Joff will have significant visual problems all of his life. It comes back to that old chestnut of finding it hard to test someone’s vision when they also have profound problems with communication. He sees and is completely addicted to sunshine and bright lights. He has a fantastic sense of internal direction in familiar surroundings, he doesn’t walk arms outstretched to navigate indoors. If he’s eating a favourite handful of dried fruit placed on a patterned background, he won’t find them all by sight. He doesn’t appear to see well in the lower part of his field of vision and favours his left to his right eye. I don’t know what colours he sees, if his vision is doubled or blurred. But I know his sight would be a lot worse if it weren’t for his miraculous lenses.

And with hardly a mishap or infection, Joff wore his lenses successfully until he was about 12, when he learned to poke them out his eye himself and eat them.

Joff’s first op. Hah!

Whilst that phrase has all the cutesy charm of a milestone, this was a pretty tough time for us.

How they remove cataracts in an operation is to make a tiny cut through the front of the eyeball next to the iris, the coloured part of the eyeball. The surgeon inserts a tiny probe-cum-hoover, for want of a simple term, which both breaks up the semi solid lens in a mashup kind of way and then they remove it from the capsule that holds it in place in the eyeball. Sometimes the capsule itself is left behind and you can see ghostly whiteness reminiscent of a cataract, but it is not generally a big problem.

We didn’t realise that having both cataracts out in a single op and in one so young was highly unusual at the time. We later found out it was an actual record in Scotland. We watched tiny Joff being wheeled into theatre – I don’t actually recall the anaesthesia used that first time, which is funny ‘cos there have been some real doozies over the years – I’m guessing it was a mask – and we were told that we should return in an hour or so. We went out for some fresh air, fully intending to take advantage of the “break”. However, we didn’t last very long being footloose and fancy free and went back to the hospital to wait in the parent’s room. Mr Effie’s mum and dad turned up and the four of us made small talk and drank some vending tea. I admired a poster in the room “Children learn what they live”. And like all the horrible times in your life, the time just crawled by. Mr Effie and I began to get stir crazy and asked at the desk a few times if Joff was out of theatre – nope, not yet – but all was going well.

After a while Mr Effie and I resorted to rolling up an empty carrier bag into a makeshift ball and used it to play hand tennis with. It did get terribly silly. Two grown adults farting about in a hospital. I suppose it was symptomatic of the growing panic we were both hiding. And symbolically, kind of representative of how we’ve coped over the years. Mostly stoically, but equally, cheery with it.

Two hours went by. Surely there must be some word by now? We went back and asked again. Oh yes, said the nurse, he’s been in recovery for the past half hour – did no-one tell you?

Aww… see that wee sowel? Barely 8lb dripping wet and two white cotton eye patches on.

They said they would fit him with soft contact lenses once the stitches settled down in about a week’s time. We didn’t know at the time, but many people having cataracts removed have a lens implant done at the same time, but this wasn’t suggested to us as an option. However, it would possibly have caused glaucoma, a kind of side effect in Lowe, so that was an option best avoided. So the contact lenses Joff was being offered had to have a large prescription; by contrast if you wore the equivalent prescription in spectacles the lenses would be stupidly thick and heavy to wear and more importantly, distort the actual view of the world with the Mr Magoo magnification.

I thought at the time, and I still do, it’s utterly wonderful that we live in a time when Joff had been diagnosed so quickly, and had the technology available to be given contact lenses with a prescription of +36.

A two-week old baby with contact lenses, did you ever hear the likes?

When, weeks later, we finally made it back home from hospital as a family, my father in law presented us with the poster from the waiting room. He’d gone back to the ward, cadged it from the nurses, then got it framed for us.

Lives in our hallway to this very day.

Children Learn What They Live

If a child lives with criticism, she learns to condemn.

If a child lives with hostility, he learns to fight.

If a child lives with ridicule, she learns to be shy.

If a child lives with shame, he learns to feel guilt.

If a child lives with tolerance,  she learns to be patient.

If a child lives with encouragement, he learns confidence.

If a child lives with praise, she learns to appreciate.

If a child lives with fairness, he learns justice.

If a child lives with security, she learns to have faith.

If a child lives with approval, he learns to like himself.

If a child lives with acceptance and friendship, he or she learns to find love in the world.

So the Bold Joff was here and the docs looked him over in the delivery room. He had good Agpar scores so there was nothing immediately obviously amiss. I needed a few stitches after and as the doctor attended to that, he told us a funny story.

Just a room or two along the corridor, there was a lady who had elected to give birth on the 8th as her husband was a submariner at Faslane and was due to go on extended tour. This way he could see the baby being born and spend a day or two with his new family before his tour.

Except he never turned up.

The doctor was an older gentleman and a veteran obstetrician of the Queen Mother’s. As you can imagine, the kind of language he must have heard over the years from labouring Glaswegian women wouldn’t have been for the faint of heart. The language coming out of that particular abandoned woman was the worst the doctor could remember and said he didn’t care for the husband’s chances once he turned up. It only occurred to me quite recently that that wee baby is the exact same age as Joff, all being equal. I wonder how the reunion went?

So we went back to the main ward, Mr Effie and I feeling a bit sorry for the livid bruising around his face from the forceps, such a bonny chubby baby he was! I tried breastfeeding him, but he wouldn’t latch on. I wasn’t entirely surprised as I hadn’t had a great deal of success with breastfeeding Miss Effie Senior and put this down to my own lack of confidence and technique.

He slept on and on, not waking for a feed. Nurse said to give him a bath and then try feeding him again. When I was bathing him another doctor came to do his first checks, count fingers, toes and check his hips, reflexes etc. She shone a penlight in his eyes and she seemed dissatisfied with the result. She did it a few times. I told her he hadn’t fed since birth and seemed lethargic. He had a raised temperature – probably from swallowing meconium during labour. So they decided to send him up to the special care ward to fit a NG tube to feed him and I was given a breast pump to express milk for him.

It was so strange to see him on that special care ward. All the wee babies we could see there were preemie; tiny wee scraps of life whose hand knitted hats and cardigans dwarfed their tiny heads and bodies, wires and tubes all around to support their start to life. And here was Joff, all 8lb 4oz of him, filling the incubator-style cots and looking like a whale in comparison. Most people walking down the corridor did a double take looking at Joff as much as I was looking at all the wee tiny babies.

Because of the range of problems of these preemie babies, there were consultants aplenty on the floor, including an ophthalmologist who came into our room to re-check Joff’s eyes. The test the doctor did downstairs with the penlight was to look for the red reflex. This is a quick test to check the retina…you’ll likely have seen it yourself as the “red-eye” you get on some photographs. But this reflex was completely absent in Joff because his cataracts were clouding his lenses and stopping light getting into the retina.

More prodding and poking and then the pronouncement, “he has cataracts and low muscle tone”. If you held him up at the shoulders and bum, his head and limbs all hung down helplessly like a little rag doll. So the doctor proposed to operate on the cataracts soon and a physiotherapist was sent in to assess and begin exercises. Mrs Frietag. One of many people who’ve supported Team Fisher.

We didn’t feel too despondent. Yes, there was a problem but it was being addressed, it had a solution. We put a wee picture of a duck up against his cot wall, something for him to “look at”. But that began to get to me, my wee baby not being able to see things. We asked the registrar how Joff’s eyesight would be after the operation. I distinctly remember asking “Will he be able to read?” because I am a voracious reader, I couldn’t imagine life without text. He replied “Oh yes, he’ll maybe need a low vision aid, but he’ll do fine”. With hindsight, the doctor should have said, let’s wait and see, as the real extent of his problems made themselves known.

The operation was scheduled for when he was a week old.

More about that next time….

…so how lucky is Joff to be born on the 8/8? I don’t know if there is such a thing as luck but we know that was a fortunate day indeed for Team Effie when Joff arrived.

When I had Miss Effie Senior, I had a minor complication at the end of the pregnancy which meant that the doctor wanted to induce her. From the start of my first labour I was doped up to the sky with pethidine, then was advised to have an epidural and had gas and air to hand…though to be fair I was so relaxed from the epidural I was just playing with the gas and air.

That first labour was 22 hours long and I slept through almost all of it. Utterly useless was the “mix tape” I made to get me through the experience and Mr Effie was frightened to leave the delivery room in case he missed something and spent the day mostly pretty bored and very hungry. I genuinely didn’t feel a contraction that first time so when Joff made it known he was on his way at 2am on the morning of the 8/8 it was a big shock to my system.

We made our way to the hospital, me in my maternity nightie, leaving Miss Effie senior with her gran and granddad. Mr Effie stopped in at an all-night garage. I was both confused, as I knew we’d have ample petrol to get us there and yowling each time a contraction came. It struck me as particularly funny that the garage’s CCTV would see me writhing about in the passenger seat with “Let Me Out” on the front of the nightie, waiting for Mr Effie to come back to the car.

Mr Effie had stopped to get a prawn sandwich. No way was he going to be hungry this time!

So we went up to the labour suite and the contractions continued. I asked for and was given an epidural again which was smashing. Just after 9 in the morning and nothing much was happening, Mr Effie decided to risk walking to the local bookies. Nope, he wasn’t going to place a bet, but going to tell my younger sister, who was working as a cashier there, that I was in labour with the bold Joff. However, neither of us knew that the shop didn’t open till 10am so on finding that out, he turned round right away to return to the hospital.

Meantime, Joff’s heartbeat had dropped a bit, giving the medical staff cause for concern. They monitored us closely for a short time then made the decision to use forceps to deliver him right away.

Uh oh! No Mr Effie!

I asked the midwife to look out for Mr Effie returning from the bookies. My legs were put up into the stirrups, and I was getting increasingly anxious that he’d miss the birth. The midwife peeked out into the corridor and asked, what does he look like?

Oh, says I, he’s a wee guy, dark hair, jeans and a t-shirt.

Hen…. she says, deadpan,…. that’s hauf the population of Glesga.

But ta-dah! In he strode just at the right time to see bonny Joff enter the world. The baby’s head was misshapen from the forceps and he had a huge bruise on the side of his head/eye but he was alive and he was here!

And the prawn sandwich was spot on too.

Joff having Lowe Syndrome was a real bolt out of the blue for both me and Mr Effie’s families. Before we even knew what his diagnosis was or how Lowe is inherited we weren’t aware of anyone in our families who had additional needs.

So saying, when I was very young, only about a year old, my mum lost a baby boy due to rubella (German Measles) damage. My mum was of a generation of women who were not routinely vaccinated as girls against rubella and when she caught it whilst pregnant with my little brother, it was an awful time for my folks. That little boy was born with cataracts and severe heart defects, at a time in the mid ‘60’s when heart surgery on babies was not possible, and so he died just 6 weeks after birth.

When Mr Effie and I decided to start our family, and knowing my mum’s history, I went to my GP and asked him to determine my rubella status to double check I was immune. He was reluctant to order such a test at first, but after a wee bit negotiation where I told him I knew in my head I’d be immune, but my emotions needed reassuring about it before I fell pregnant, the doctor agreed to the test. And it came back that I was properly vaccinated and immune to rubella.

And when we decided to try for Joff, I asked for the test again. I know, I know, it was bonkers, but I just needed the titre test done once more just to prove that the immunity hadn’t lessened somehow. Again, I was immune to rubella.

So when the Joff appeared with these bilateral cataracts and low tone, the paediatricians at the hospital jumped on rubella as a diagnosis. Very understandable. Another new mum might have gone along with the rubella damage diagnosis for Joff, but I had the benefit of that testing and that knowledge. I was pretty adamant that it wasn’t rubella – I’d had the titre test done twice in three years… and unless it was wrong, there was no way I’d caught German measles whilst pregnant with Joff.

(In fact, he was by far the easiest of our three kids to carry as I was desperately ill with morning sickness with both our girls, to the point of hospitalisation for extreme vomiting. Joff was also the heaviest and easily the most active baby of our three; the amniotic fluid giving him the support to move freely that he couldn’t do once born. We often joked about “the footballer” I was carrying.)

Much later, once Lowe was diagnosed in Joff, the doctors went on to test my mum’s genetics and it turned out that my mum is also a carrier of the Lowe mutation.

So my wee brother could well have had Lowe, but the addition of severe rubella damage would have masked this rare disorder at the time and with no tissue available to test post-mortem, it’s only supposition now. I often ponder, had my wee brother survived, what life would have been like for my folks back then looking after a child with disabilities. For all the problems modern support services give us now, I’m sure they would have been far greater back then.

And part of the legacy of my wee brother is that our family are massive fans and advocates of vaccination.

When I first started this post I began writing about when I was pregnant with Joff and the early days of his life but I realised that can be a whole post to itself. I’m so used to condensing details for various people, that it will take a while to get used to the luxury of posting what and when I want in the blog (within reason and moderation!)

As I compose this, I am really curious as to who is reading this and why…what your existing attitudes are and knowledge of children like my son with complex disabilities and how this will be received by the reader. I do wish I had something like this to read long before I had my kids and certainly in the very early days with Joff, bewildered at the parallel world we’d jumped/been pushed into. I often tell people I had to have my own son at nearly age 30 to know someone with disabilities. The most I had seen beforehand was TV footage of these wee heart-wrenching tots in the yearly event Children in Need (which I now call “Piss on Pity”) on the Beeb. Does that ring true for any of you?

Will you feel pity reading this? Sadness? Perhaps compare your life or your son or daughters lives to his? I would like you to consider this one statement: whatever you read about Joff today or later on, this is our normality. Facts you might think of as hard, or emotionally draining, perhaps disgusting, odd, they may well be – but they are our life; morning, noon and night.

Joff is a 20-year-old young man with multiple and profound learning disabilities; he has very limited understanding of daily life – perhaps the age of a toddler but not quite as savvy. It is a fact that it’s very hard to test the understanding of someone who cannot see well – do they fail tests because they don’t see what to do, or don’t understand what to do? However, I can tell you he’s missed thousands of developmental milestones large and small and there’s many he’ll never make.

He is registered blind, but has what’s called “functional vision” so that he can see to get around and find things like his toys or his juice bottle. He cannot tell us what he is seeing but it’s unlikely he sees details clearly. He’s currently back wearing contact lenses after a 6 year gap off. That’s a classic wee story in its own right.

Due to his renal problems, Joff is short for his age around 4’11” and wears age 14-year-old clothes, he is unlikely to get much taller. However, I’m only 5 foot myself so I’d be struggling much more with the moving and handling I have to do with him, if he were taller. A few Lowe families elect to give their sons growth hormone injections. Joff will never be cosmetically aware of his shortness and I feared coping with a bigger son if he turned out to have self-injurious or challenging behaviours, so we never investigated this option much. It does help with improving bone strength and cardiac health but the prospect of giving Joff a daily injection definitely did not appeal. This is a young man who goes “radge” getting the sleep taken out his eyes in the morning. An injection to make him a bit taller, sooner? Pfft. Nope.

He has low muscle tone and therefore limited stamina for getting around. He learned to walk at about age 5 and his low tone and hypermobile joints have affected his gait, so he walks with his feet at a “10 to 2” position (think clock faces) and has a flexion over one of his knees which limits his mobility. He developed plantar fibromas on both the soles of his feet about 2 years ago. These are a soft benign tumour which are difficult to predict how they will grow. We’re watching them only as surgery isn’t guaranteed to help, but can provoke massive overgrowth of tissue as well as painful scarring.

Joff has no verbal language apart from “beh” which is his word for bed. He does use a simple form of sign language developed at the Royal Blind School in Edinburgh called Movement, Gesture and Sign and he can sign about 20 signs. At this point I’d like to state “non-verbal” does not equal “quiet”!  Joff makes an amazing range of hoots, squeals and grunts and isn’t shy about sharing them. He does understand very simple verbal language, spoken slowly, mostly based around fixed routines, if you don’t give him time to understand and process, he can’t take it in.

Joff has Fanconi syndrome in his kidneys. This basically means that his kidneys cannot concentrate his urine, so he drinks a lot of liquid every day. His kidneys also lose many different kinds of salts and other substances to the urine which would normally be returned to the bloodstream after filtration. Some of these substances are crucial to normal metabolism and pH, so he takes multiple medications three times a day to return his blood chemistry to more normal values. This also has an implication if he is fasted from fluids such as during operations or if he has even moderate sickness and diahorrea and has to have IV fluids immediately.

Joff is and always has been doubly incontinent. Managing this is currently causing a lot of problems as he goes through puberty and I’ll discuss that another time.

He developed epilepsy when he was 8 and am very grateful that his twice daily medication has kept seizures under control for over 12 years now (not superstitious but touches wood anyway)

That’s some of the main things we deal with today with Joff. How do they make you feel? A laundry list of problems? A hard row to hoe? Do you wonder how families like ours cope? As you (hopefully) read this blog over the weeks and months you will know that these are his problems/support needs. These are not what or who Joff is.

Let us know what you think in the comments box…don’t be shy…let’s talk about it….

As my high school chemistry teacher used to say: “Let’s return to first principles”.

I first heard the phrase “Lowe Syndrome” on 25th January, Robert Burns Day, 1996, when our geneticist came back with this diagnosis for Joff. This was the second diagnosis that had been made, the first being mosaic Edward’s Syndrome or Trisomy 18. The tale of diagnosis can be told some other time. But every single day since that one I’ve had the phrase “Lowe Syndrome” in my head – sometimes as a hook to hang problems on, sometimes, something to rail at, other times a reminder of the great fortune our son brings us…which reminds me of the time an email buddy wrote back to say “sorry, I misread your text, I thought you’d written that your son had Love Syndrome”.

So to understand more about Team Effie, it seems only apt to let you know some of the background to Lowe Syndrome and the Lowe Syndrome Association Inc. I am going to assume a level of knowledge about medical terms but please feel free to stop me in the comments box and ask about anything I haven’t made clear. If I can’t answer, I’ll endeavour to find someone who can.

Lowe Syndrome was first described in 1952 by a team of three doctors working at Massachusetts General Hospital in Boston, USA. The team consisted of Dr Charles Upton Lowe, and Drs Terrey and McLaughlin. Dr Lowe, being the senior doctor got his dibs in to name the syndrome. They noted features of three males in their clinic with “congenital cataracts, mental retardation and kidney problems”. With three organ systems being affected, the syndrome is also known as oculo-cerebro-renal syndrome, or OCRL. (The L stands for Lowe.) In time they came to realise that only males were affected and this indicated genetic involvement on the X chromosome.

In 1978, a lady called Kaye McSpadden from Indiana gave birth to her own son with Lowe. Her son, Leland, went through a battery of truly horrible testing to try and diagnose him. In her ever-practical way she decided to reach out to other people, Kaye wrote a letter in 1981, describing Leland and his medical problems to a USA magazine for parents of children with disabilities called “Exceptional Parents”. This helped her to get in touch with 6 families affected by Lowe. And from “a postage stamp”, the phenomenon that is the Lowe Syndrome Association (LSA) found its beginnings.

The accomplishments of the LSA are mind-bogglingly amazing considering the rarity of the condition and the fact that it is a non profit charity run by volunteers who don’t take so much as the price of a cup of tea from the income.  The LSA has been fortunate to have a long term core of doctors and researchers whose patient, painstaking work has uncovered the ORCL gene on the X chromosome and its recessive inheritance pattern, what protein it codes for, a biochemical diagnostic test for LS as well as prenatal diagnosis…in recent years, prenatal genetic implantation has become possible for families affected by Lowe. These are only a few of the significant pieces of knowledge uncovered over the past 31 years. Sadly, Kaye’s son Leland died in 2000, aged 22.

But what is Lowe?

Almost all our boys are born with bilateral cataracts, some have good or functional vision, and others are blind. 50% of boys develop glaucoma, 50% develop epilepsy. They have a wide range of intellectual disabilities from mild to profoundly affected. They have low tone (hypotonia) in their muscles and around 1 year old they develop a kidney disorder called Fanconi syndrome, so-called “leaky kidneys” and renal tubular acidosis. They can also develop some or all of the following – scoliosis (curvature of the spine) fibromas, keloids, arthritis, skin cysts, short stature, rickets, osteoporosis, and challenging and self injurious behaviours, OCD, autism and shorter life expectancy – around 30 – 40 years. There’s a few other things but they’re too numerous to list. It is an extremely complex syndrome. “Our Boys” have a characteristic look about them, partly the dysmorphology of Lowe and partly like their own parents. Most boys with Lowe are cheerful and loving, but can be distant and rejecting. It is a spectrum disorder so even when two brothers or cousins are affected within the same family, no two boys are alike.

If you have a few minutes please pay a visit to our website http://www.lowesyndrome.org

The LSA recently have been the beneficiaries of a total website revamp and it’s turned out so well, you can see pictures and stories about our boys that we hope will encourage newly diagnosed families in the challenges they face and show them they’re not alone.

In The Next instalment: How does Lowe Syndrome affect our bonny Joff?

A warm welcome to the blog of Team Effie!

There are 5 of us in Team Effie being displaced Glaswegians living in Fife – myself being Effie, Mr Effie, our three children; two daughters, the Misses Effie’s, (senior and junior) and our son, The Bold Joff. Joff is one of only 3 people that we know of in Scotland diagnosed with Lowe Syndrome, aka LS, OCRL or Oculo-cerebro-renal syndrome of Lowe.

*may contain 2% owl

Lowe Syndrome is an ultra rare, life limiting and life threatening metabolic congenital disorder which affects mainly males (although through the quirks of unusual genetic inheritance, we now know of 4 girls worldwide diagnosed with Lowe)
Joff has just turned 20 and is a young Scottish adult with profound and multiple physical, learning and sensory disabilities and complex medical needs. He left school at 18 and moved into adult services, more about both later. Mr Effie and I successfully secured full legal welfare and financial guardianship of Joff in 2010 under the Adults with Incapacity Act (AIWA) 2000.

I’m keeping this introduction fairly brief now as I don’t want to give away all our secrets yet… you’ll have to tune in regularly to find out more about Team Effie, Joff the Dark Destroyer and what it’s like to parent someone like Joff.

There will be much laughter and tears as well as some shock and disgust. Perhaps even some hummus occasionally.

And most of all, it *may contain 2% owl.