Archives for the month of: December, 2014

…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.

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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.