CSID: find out more here.......

For further information about CSID, please do get in touch with us on sarah@zmedclinix.com, we are very happy to help.

Please also join our UK based Facebook group 'CSID UK - Sugar Intolerance'. It is a wonderful resource where our small community helps and supports other UK based families at every stage of their CSID / Sugar intolerance journey:  https://www.facebook.com/groups/472577760533694

And the International CSID Facebook group 'CSID Parents & Patients' which is also a wonderful resource to provide the 'bigger picture' : https://www.facebook.com/groups/298473723542030

For more information about CSID please watch our video for educational purposes - targeting children and caregivers:  https://www.youtube.com/watch?v=gM4h6NZ-yvI

This is our story about our quest to reach a diagnosis for our little 2 year old daughter Millie...

This is our story. About our long and sometimes difficult, always frustrating journey through the unknown wilderness of daily life with a small child with what then seemed like multiple food allergies and sensitivities.

Additionally there is an as yet mysterious 'something else' -possibly Gastro twist (super!) -lurking and still to be discovered...

This is not the beginning of our journey...we are two and a half years in. For anyone who has experienced the world of food allergies they will know that this so far seems like an eternal journey.

This is the story of me (mummy) and Little Legs. There are other people in this story who have also been greatly affected. We will call them Daddy and Longer Legs. Longer Legs is five and it cannot be underestimated how this has affected her too.

All the opinions expressed in this blog are mine and mine alone. This blog has been written with the sole purpose of finding an outlet for my frustrations and exasperations. An outlet which will listen quietly and allow me to rant or cry! 

Feel free to join us on our journey...

In the Beginning

It started at just 2 weeks old….

We knew something really wasn't quite right at just two weeks old.

Little Legs would scream after feeding. The sort of blood curdling, high pitched, never ending scream that was saying 'mummy I'm hurting'. It would last for hour upon hour. There was nothing that would relieve it and no way of escaping it.

After several hours of holding this red faced, writhing, tortured little soul, exhausted, feeling guilty for expecting Longer Legs to entertain herself. Again. I'd finally have to admit defeat and call daddy home from work to take over.

He would also try everything too (this being his fourth and my second child so we had removed our 'L' plates long ago) and eventually, we'd head to A&E at a loss to know what else to do to help her.

‘That’s what babies do, they cry’

One consultant kindly proffered the intelligent titbit 'that's what babies do, they cry'...I could have punched him. 

Especially as by now after we had been waiting hour upon hour, the screaming had finally abated and we had a sweetly sleeping (most probably exhausted) child.

There was the vomiting too. Lots of it. It was a vicious cycle that we did not know how to break- the more she vomited the more she wanted and needed to feed. The more she fed, the more she vomited.

Then there were the burning blisters and sores on her bottom and that smell... Ok so no poo smells of roses but this was a putrid fermenting smell that should never have been associated with this little peach of a bot.

These problems, maybe coincidentally, maybe not, started after I'd taken a course of post C-Section antibiotics. We'd been told to expect some fall-out but we certainly weren't expecting this. We also expected it to stop when the course was finished. It didn't.

 ‘It must be silent reflux’

The paediatric consultants declared it was silent reflux (the new buzz word in the medical world) and without further ado put her on an interesting hefty cocktail of medicine (Omeprazole, Ranitidine, Gaviscon etc).  (Do people actually realize how massive these things are and what they actually do?!?)  They made her worse.

My hunch said that her little body was trying to evict her milk for a good reason and that it wasn't silent reflux (there was nothing silent about her high pitched screaming...) so I decided to take her off all the meds and took dairy out of my diet (still B/F) to see if this made any difference. I kept a food diary. I noticed when she was worse and how the food I ate affected her. Coconut was a no-no. So was all dairy, chicken, salmon, most proteins. None of it seemed to make sense! How could she be 'allergic' to everything??!!

At four months, and very little progress, exhausted, we were advised to wean. That.magic.word! 

So wean we did.  It was hell. A minefield. Now we had to work out not only what I was eating that affected her but also what she was eating. It was like the Krypton Factor and completely impossible.

I stopped B/F. I had to. My brain had turned into a foggy swamp trying to keep track of who had eaten what. I was exhausted. We then had to get her to use a bottle and find a formula milk that she could tolerate. 

The first, relatively speaking, was a doddle. The second was a n.i.g.h.t.m.a.r.e.

*that* smell of cheesy socks

For two weeks we tried every formula milk available. The first one, a hydrolised cows milk formula (prescribed by doctor), seemed to go down well. We waited with baited breath....

Then the vomiting started.

We moved on through more extensively hydrolised milk-Nutramigen- (OMG *that* smell of cheesy socks was enough to start me off), Puramino and finally the holy grail of milks, the one that 'no baby could react to' (told this by our dietician)... Neocate. 

She vomited extensively. The amino acids in the milk are based on a minute amount of coconut. But coconut nonetheless. Furious thumbing back through reams and reams of food diary of biblical proportions came upon that observation that a minute amount of coconut produced a copious amount of puke, bottom burns and acrid smelling poop. Bingo.

Two weeks in we were feeling desperate and unable to feed our baby.  That's just the worse feeling ever.

Then a friend suggested we tried Nanny Care goats milk. We were told by the consultant that it was 'physiologically impossible for a baby who is allergic to cow's milk protein to be able to tolerate goat's milk'. But miraculously she could!  

[What we didn't know then, but we do now, is that Nanny Care was the only formula milk on offer that did not include added sugar. This was a crucial piece of the jigsaw. But more about that later!]

Big huge mammoth sigh of relief. 

Interestingly she can't tolerate normal goats milk products as I found out after merrily skipping to the goat's milk food aisle and sweeping cheeses, yoghurts and creams smugly into my shopping basket...

More misses than hits…

The weaning process continued with more misses than hits and we added to our list of no-nos...soya, red pepper (severe, possibly anaphylactic), sorbitol which annoyingly is in most children's medicines so meant Calpol and Neurofen produced copious vomiting. So yep we had to head down the joyful route of suppositories...

Toothpaste has it as its main ingredient which explained the gagging and screaming when we tried to clean her teeth...We were referred to a number of allergy consultants. Some were ok some weren't. Once we'd exhausted the hospital's allergy department and the dieticians who spent a great deal of time head scratching, we were referred to a gastro consultant and finally felt we may be getting somewhere.

This feeling was shortlived. 

‘Can I write to your doctor?’

The day of the appointment with the new paediatric gastro consultant dawned with a surge of excitement and a smattering of intrepidation.

This person could hold the key to progress in our frustrating journey. 

I prepared a summary in writing as I was accustomed to doing to avoid the otherwise often incomplete or incorrect summary of the appointment. We went en masse (with husband and Longer Legs in tow). 

The meeting was with the gastro and the dietician made an appearance. It did not start well.'So what do you want me to make better?' was how she started. I was thrown. 'What do you want me to fix?' She continued on her ill advised path.

This had not been in my meeting plan. I had no idea what angle she was coming from. 

My hackles rose. 

I started to explain the long journey we had been on and how feeding this young child with only five foods was not for any of us sustainable or in her best interests. Not to mention the screaming, the HUGE bloated little tummy, the burns on her bottom, the copious torrents from both ends... 

She said in view of the 'normal' blood test results (and I could see on her computer screen that nearly half the results fell well outside the 'normal' range) she wanted to 'leave it' for twelve months to see 'how she got on'. 

Close to a torrent of tears (and thrown into the pot it was my birthday and this was not exactly how I would have chosen to spend it) I said that I would 'struggle to cope' for another twelve months. 

Just as those words left my lips I could see her eyes light up and she pounced like a coiled snake waiting to strangle her unsuspecting prey...I had clearly stumbled into her trap and now she was able to turn the situation around onto the incompetent paranoid mum sitting in front of her. 'If you are unable to cope, I would like your permission to write to your doctor as we clearly need to treat you first'. 

I could hardly believe what I was hearing...OMFG. Was she for real?!? Astounded did not sum it up. I had more smoke pouring out of me than Mount Vesuvius.We left the meeting. I wrote a very strong letter to the allergy consultant who had referred us. She clearly hadn't bargained for this incompetent paranoid mum. And to top it off beautifully it was my birthday and I was in no mind to be messed with.

They could see we meant business. Within a week they had agreed to admit us into hospital. They wanted to 'see it for themselves'. 

They wanted us to make her ill.  

This would give us our golden ticket. The pass for further tests.

‘We need to see it for ourselves….aka we don’t believe you’ 

Just a few weeks before her second birthday we found ourselves guests at the Royal Surrey Hospital. 

We had to give Littlelegs food that we knew would make her poorly before she came into hospital. We were to stay for 3 days during which they would observe her, do an ultrasound scan on her tummy and do a Barium Swallow and scan. 

Plus more blood tests. 

We were to bring all her food requirements with us as despite being there under the care of the allergy consultant they could not cater for allergies. Yep, that's right, despite being a hospital paediatric allergy department, they are UNABLE TO CATER FOR ALLERGIES.

So in we went with everything but the kitchen sink, all packed neatly into little boxes. 

The first few hours LittleLegs was the life and soul of the ward. She entertained everyone with her quirky charm and cheeky nature. 

The consultant's team exchanged knowing looks. 

The first scan was fairly uneventful but showed her little tummy full of gas and they were unable to see or check any of her other organs as a result of that. 

The Barium Swallow was another story. 

I'd warned them beforehand that they needed a Plan B as there was no way that a food averse nearly two year old was going to drink that appetizing glass of chalky looking gloopy white stuff.
They pleaded with her. I pleaded with her. I tried to bribe her. I produced a bottle and tried to get her to drink it out of that. 

I pretended to drink it. Her mousey pretended to drìnk it. 

She screamed. And screamed. And screamed.

By this time she was also beginning to not feel well at all. The symptoms that were all too familiar to us which we had tried to describe to them were beginning to become apparent. The clingyness, the lethargy, the crying. 

And the HUGE tummy. 

Despite the pots and pans and the offerings of her favourite foods and even some little choccy treats (dairy free, soya free, coconut free) she refused to eat anything. All she wanted to do was lay on a sofa with her head in my lap. She was listless and not interested in anything.

She was starting to react. 

The gastro team stopped their knowing looks. They backed off, embarrassed. 

Then came the blood tests. They decided to use it as a training session. It took 5 of us to hold down a furious, red faced, writhing, poorly child while they tried to extract blood from five different places. Eventually they succeeded.

That night in the ward was one I would not care to repeat. My little girl was poorly. Very poorly. I had made her poorly. The gastro team was nowhere to be seen now.

In the morning an apologetic consultant came by and said they had 'seen everything they had needed to see' and we could go home immediately. They couldn't do the Barium swallow, they didn't have a Plan B, they could see how poorly she was. There was no need for us to stay another 2 days.

 
They would immediately refer us to a different gastro consultant at a different hospital for further immediate investigative tests. We had won.  

It was a bitter sweet victory. 

‘But she looks so well….’

(Said with *that* knowing glint in the eye) Ug. How I wish I had my portable punchbag with me sometimes. 

I'd be rich if I gave a penny for every time I hear this.

What I want to say is..'Yes she does...and that's because you don't see what goes on behind the scenes. It's because I work tirelessly to provide this child with food that sometimes she eats but most of the time is pushed away. She is as well as she can be on a massively restricted diet of five foods. We nurture her as best we can.You don't see the crying, the clinging, the tears and the fights as we have to change another nappy whose contents are burning her.  The upteenth time that I get kicked, very hard, because I'm the nearest one to her on the changing mat and she is hurting. A lot. And that smell!! Ok no poo smells of roses but these are reminiscent of putrid rotting matter that should never ever have to be associated with that little peachy bot. Ever.' 

But I don't. I smile (again) and just nod in agreement. 

Knowing full well that another person is a) weighing up the possibility that I might be making it up or b) wondering if actually I need to see a shrink...because she looks so well.

‘We’ve been invited out for lunch!’

Never have these words filled me with dread more than they do now. It's only something other allergy mums will understand (sorry dads, sorry friends).

That simple pleasure of going for lunch at someone else's house, especially when that someone else is not your Best Friend Who Understands Everything, is now a sweet memory from the distant past.

For the moment it will not be a relaxing experience. Not for mum at least. Anxiety will be sitting on your shoulder looking at every dish produced and *that* awkward moment of having to ask to analyse with scrutiny every ingredient list. 

The fall out is just not worth NOT doing it. 

Then when very little is actually consumed.. having to keep Little Legs occupied as energy levels flag. Then mopping up the aftermath. Despite the scrutiny, the *awkward* questions, the picking of little titbits to try to somehow satiate that waning appetite, something hasn't quite gone to plan. The raw red blistery bot, the swollen, distended little tummy, the stinky poo, the vomiting are all too familiar highlights of a lunch date out.

Woohooo she’s two…

LittleLegs turned two. Normally a joyous occasion, and it was, to an extent. She loved the presents. She loved her 'bampa and bampa' coming to see her. 

That was about it. 

As a small handful of her friends turned up she struggled to cope with the change in routine. It was outside her comfort zone. Her reaction was all too familiar. She covered her little face in her hands and started to sob. 

It came to teatime. It was a sunny warm spring day and we had set up a birthday table outside. In a vain attempt at normality I had made a dairy free spread which included some little star and heart shape sandwiches which theoretically she should be able to eat. 

Again she put her head in her hands and sobbed her little heart out. 

It was all too much. It broke my heart.

I brought out a little plate for her with her favourite fishy goujons on. She was the birthday girl after all.

Now LittleLegs was well and truly two. 

Kinesiologists, homeopathy and all the non – NHS stuff…

By now we are at a total loss. 

So far we have been proffered the trendy Silent Reflux. 

The slight less trendy Reflux. 

The large catch-it-all net of CMPA (Cows Milk Protein Allergy), the quirky sounding F-PIES (?) With a Question Mark. 

Nothing really resonates. 

It feels like Millie's issues are square pegs being haphazardly and rather carelessly hammered into round holes. On Social Media help forums we feel like the outcast, the imposter, that doesn't quite belong. We don't quite fit into the CMPA forum, we know we really aren't at home in the F-PIES forum. 

In desperation to find our place, we seek answers outside of the safety net of The NHS. We book an appointment with a renowned homeopath. The homeopath listens intently, at last we feel listened to and believed. 

We come away from the appointment feeling confident and clutching our small packet of tiny sucrose tablets which carry the remedy for Little Legs. The first few days of treatment with the tiny pills 'special sweeties' seem to work their magic. Little Legs somehow seems calmer, more open to new foods. Her tummy seems more accepting and less bloated.  

Then it starts....the vomiting. 

Repeated intake of this tiny sucrose pill seems to evoke a huge response. 

How? 

Frantic googling of 'sucrose intolerance' throws up four letters... C  S  I  D. 

CSID Congenital Sucrase Isomaltase Deficiency.

This is the first time my eyes alight on these four letters. 

With a racing heart I read through every scrap of information I can find on 'Congenital Sucrase-Isomaltase Deficiency' ...light bulb moments are popping frantically before my eyes. 

Could this possibly be the missing part of the jigsaw we have desperately been looking for? Is this the first clue? Could it be CSID?

In a quest to seek more answers we head to see a kinesiologist. 

This is my first experience of Kinetics. As the very able practitioner repeatedly asked my arms how best to treat Littlelegs my body provided the answer...we were to see The Homeopath (again) but my body would take The treatment for Littlelegs. Open to anything and in the absence of any sensible direction from the NHS we decided to try this approach.  

We also discovered that homeopathic pills in France, where homeopathy is not only widely accepted but also carefully regulated, come with a warning that they are not suitable for patients with CSID....tres interessant...

‘I don’t like that, mummy’

We had been to visit our new gastro consultant at Sothampton Hospital. We felt optimistic again. Someone who seemed to know what he was doing. For six long months we had to rest LittleLegs' tummy to give her a break from reaction after reaction. (Generally unintentional accidents) 

A Five food diet. 

Five foods that we knew she was ok with.  Eggs. A few fingers of toast. White fish. Green beans and Brocolli. 

Oat milk and water to drink. Reasonably healthy, all things considered.

At the end of  the six months we were to start expanding her diet again slowly. One food at a time. But not if you're now two, you are very aware, very nervous around food, struggle with new situations and new textures. 

Out of principle now we're two we're also going to say no. Because we can. 

Great.

We now had to throw this fact into the melting pot and would have to from now on factor in the manipulations of a two year old. Ug.  

The new gastro consultant in Southampton promised us that when we had introduced 2-5 new foods he would perform the Gastroscopy, to have a look at her intestines and hopefully find some answers. The next step in our journey. 

Easy, we thought.

It took two solid months of playing with pasta, making pasta necklaces, pasta pictures, measuring, counting, pretend cooking with pasta before LittleLegs would be persuaded to eat just a teaspoonful of pasta. 

But she did. 

Success. 

Then followed beef and lamb. We were making progress. Small tiny steps. But steps none the less.

When ‘ow’ is her first word

Little Legs is now able to express herself very well. 

During the night we were summoned several times to a small child with a very 'hurty tum'. 

Sometimes this is now used to get what she wants. 

Clever. 

But if I ask 'is it really hurting or is it just pretend' and it is just pure manipulation she will say 'just pretend, mummy'. 

Two year olds have not yet learnt the art of lying.

Last night was real though.  Her little tummy was so swollen and sticking out so much it looked like if I poked it with a pin it might pop.

Little Legs has been on a concoction of drugs this week for ten days to try to sort out the bloaty uncomfortable balloon tummy. 

Metranidazole to kill off a suspected overgrowth of bacteria. Sennocide to alleviate any constipation that the Metronidazole might cause. Probiotics to put the right bacteria back in.

Three times a day. 

Gosh. 

Our kitchen looks like a pharmacist's laboratory. 

The sugary child medicines are a no-no as Little Legs can't tolerate sucrose or sorbitol. So we have a pill crusher to crush the adult pills. 

We have syringes in various sizes to measure and mix the powder with water then draw down the correct quantity. 

If that is not challenging enough we then have to get a small food averse 2 year old child to consume the resulting brown liquid that tastes as delicious as crushed paracetamol tablet.

Fortunately sweets are a rare enough treat in our house to use a handful of  (dairy free, soya free, coconut free) chocolate drops as a bribe.

For the moment.

However, going back to last night's hurty tum episode... this morning produced the worst possible 'twenty wiper'. 

This child's first word was 'ow' ...it just breaks my heart. 

And….*breathe*And so....it's over. That was fun. 10 days, three times a day, two sets of pills plus probiotics, all tasting of, well, neat adult medicine. That's 40 pills and roughly 90 spoonfuls of yuck for a little two year old. 

She surprised us all by bravely, magnificently slurping every one followed by a little choccy treat.

Have we seen a difference? 

Nope. 

Apart from nightly moanings of a sore tummy. Her tummy is still HUGE and bloated like a balloon every night. Roll on our next consultant appointment. 

Just reeling from the shock realisation that this time next year we will need to work out which school Little Legs will be attending... at this moment in time it is difficult to imagine her anywhere where I can't bring her home for lunch.

With no diagnosis it is so difficult to manage...

The Hair test

So we have now been waiting with baited breath for SIX WEEKS for the results of LittleLeg's Gastroscopy. 

I am probably now known by the whole Gastro department of Southampton Childrens Hospital as the worst kind of Naggy Mum. 

I've phoned so many times and been told by the same poor lady 'no results yet'. 

GROAN

We are still fumbling in the dark trying to sustain LittleLeg's appetite and hit and miss interest in food. 

In desperation we paid £30 for a 'hair test' hoping it might provide us with an elusive missing part of the jigsaw. It did sort of, albeit the results were pretty hard to read. If we went on the results of the hair test we would be feeding her with air! 

Sensitivities to dairy, gluten, wheat, rye, barley, tomatoes, leeks, grapefruits and grapes....and...there it is!.....sugar.

We bought a gluten free loaf of bread, more out of curiosity really. It had an extraordinary list of ingredients which looked totally manufactured and not something I even fancied putting in my mouth! 

One of its main ingredients was potato starch. This made LittleLegs poorly. She was also poorly with some probiotics we were given. On closer inspection they too contained potato starch. Bingo again. She has never been keen to eat potato. Another one to avoid and now a question of which is the lesser of two evils 

...Probably gluten.

YaY! It’s Christmas

So the joy and excitement of Christmas is upon us!! 

For three of the members of this family anyway.

Not so for LittleLegs.

The change of routine seems to fill her with despair and she longs for the known comfort of her regular pre-Christmas life.  She is thrown by the Christmas tree, terrified of Father Christmas and devastated each time a well meaning family member or friend brings round chocolate treats. 

When she realises that she can't actually eat the proffered treat she now puts her little chubby hands over her face and sobs. It breaks my heart. 

Even the offerings from well intentioned friends who kindly bring round the 'Free From' chocolate range elicit the same response as frustratingly they decided to make their chocolate with coconut oil...which LittleLegs cannot have.

The sheer joy on her face when presented with a packet of jelly sweets would have lit up the entire National Grid. She took herself up to her room when no one was watching and devoured the whole packet. Who could have blamed her...Now waiting for the fallout. Hopefully the enormity of her pleasure will outweigh the discomfort of her little tummy...

Results are in!! They’re fine, she’s normal!!!

Yay! and phew.

After 8 weeks of phoning the results have arrived. The consultant phones me with a smug 'I told you so' tone to his voice.

I am relieved. Hugely relieved. She is normal, there is nothing wrong with her. 

For a few blissful moments I have visions of normal food, and a normal life, without those four little letters in it (CSID).

He repeats the same thing at our appointment with him the following week. He suggests we continue to add as many things back into her diet as possible. I ask for a copy of the results. He proffers a large sheath of paper and hurriedly ushers us out of the door.

I race to the car with Little Legs in tow. I quickly shove a breadstick in her little hand and pop Peppa Pig on on the car DVD player and then I read and read. 

As I read a cold horror descends on me like a hammer hitting me on the head. 

They have made a MISTAKE. 

The results are there before my eyes. Alongside the gastroscopy they were supposed to have done something called a Disaccharide Assay to check the levels of her enzymes, which I had asked them to do from my research into sugar intolerance. 

The enzyme levels are too low. They have only tested for two not the four they were supposed to. 

Her Sucrase and lactase levels are TOO LOW.

Little did we know, we were about to embark on a huge battle, with a big old, stubborn, outdated machine called the NHS...

Three years in…

We are now into our third long year of the unkown.

We have seen five different consultants and four dieticians in two different hospitals.We have had blood tests, allergy tests, an endoscopy and probably over 20 hospital appointments and three hospital stays.

There have now been 6 different diagnoses. 

REFLUX. SILENT REFLUX. CMPA. F-PIES (with a question mark). SIBO. IBS.

We are still no nearer in our quest to understand what is going on with Little Legs. The only feasible suggestion (made by us) of CSID has apparently been ruled out. 

The endoscopy which should have ruled it out was (we now realise) Messed Up. 

They won't admit it was messed up but it seems this is the reason they cannot give a diagnosis.

It is crucial to get the biopsies on ice and sent to the lab immediately to be tested. The timeframe is critical otherwise the biopsies collapse. It took FIVE days to reach the lab. The precious little lumps of flesh from my daughter's intestine, which possibly held the answers to her problems, had collapsed.

They did test for two enzymes (Lactase and Sucrase) but were supposed to test for four...Maltase / Isomaltase and Palatinase were missing. 

We would only ever have had half a set of results, half a diagnosis.The two they did produce results for were low. To complicate matters they were just within the normal range from this lab but well outside the normal range for this test from every other lab in the UK, Australia, New Zealand and USA....

It looked like, on top of the messed up endoscopy, the lab had made a mistake.

Now we had to prove it as we were now effectively discharged with a diagnosis of IBS, and no further support....ZILCH.

My gut instinct was shouting out at very high decibels that this was not right and I must fight on.

And fight on I did...

The big Black NHS hole…

Out of frustration that was borne from seeing my little girl still suffering I decided to take matters into my own hands.

I assumed she had CSID. In my eyes she did. Her tummy was still hugely bloated at the end of every day. Some days she was doubled over in pain. 

She was always exhausted.

From the moment she woke up in the morning she would say 'Mummy, I'm so tired'.

It was as though she hadn't actually had a night's sleep. Most days she would want to lay on the sofa in the afternoons, not really interested in doing anything. 

She was a toddler, but didn't really want to toddle.

She wasn't really interested in food. 

It seemed a chore for her to eat. Her poos were always mushy and her bottom still frequently sore. Through the day she would look pale and sometimes she would feel shaky. She had always felt shaky even as a baby, but the doctors always dismissed this. 

I decided to put her onto a CSID diet and take all sugar and starch out of her diet. 

The results were extraordinary.

The change in LittleLegs was almost instant. She became a different child. This little thing that would recoil so deeply into her shell at every moment, every new situation, every unfamiliar face, suddenly started to blossom.

Everyone noticed it, her nursery were astonished, her family saw it immediately. The colour came  back into her cheeks, her energy was fuelled, she became a feisty little three year old who suddenly wanted a piece of every action!

Her tummy would still bloat, but gone were the debilitating pains. Reassured that I was now on the right track, I decided to tackle the NHS head on and request a trial of Sucraid, the magic ingredient which could remove all final traces of her discomfort and hopefully reduce her swollen tummy.

Sucraid, and it's UK equivalent, Invertase, are just yeasts which provide the enzymes lacking in patients with CSID. They eat up the undigested sugars which otherwise ferment, excrete and cause bloating. If left, bacteria can grow inside the intestine, feeding off the undigested sugar and basically also eat the food before it can enter the child's digestive system, depriving them of essential nutrients.

The reaction I got from our 'team' of medics was nothing short of extraordinary. 

I started with our doctor. 

Whilst she listened sympathetically and had a look on her system, scratched her head a bit because CSID is not taught in medical schools because they are unlikely to ever encounter it...She said the consultant would have to prescribe it.

So I then contacted the allergy consultant who had referred us in the first place, but she said she couldn't prescribe it because it was outside her remit (she was allergies, not gastro) and she would need the other consultant to give her the go ahead.

I then wrote a lengthy email and tried to phone the 'other' consultant (who had messed up the gastroscopy) six times over a five week period. 

Strangely enough it appeared he wasn't particularly keen to talk to me.

Eventually he sent a letter to say he couldn't prescribe it because he didn't think she had CSID (despite the successful elimination diet). 

His boss couldn't prescribe it because LittleLegs had already been discharged. 

It seemed that we were in a big black NHS hole. 

No one wanted to take accountability for it. In desperation we decided to seek a second opinion. The obvious choice was a consultant at the same hospital who worked with the one who had messed up. He seemed to have more knowledge about the condition and LittleLeg's records were all at the same hospital so it would be nice and quick and simple, or so we thought.

Six weeks later we received a letter to say that it was not possible to seek a second opinion with him as he didn't know anything more about the condition.

Back to square one.

Further research flagged up a possible new consultant in London who practised privately in a London clinic and on the NHS in Sheffield. We spoke to his secretary, sent him the results and he agreed to see Littlelegs immediately, privately, with a view to having further tests done in Sheffield.

The day loomed.  We felt nervous. Would he think we were just over zealous parents? 

He examined Millie, looked over her history and the flawed endocopy results, listened to the success of her elimination diet and immediately suggested she should have a trial of Invertase and a further Gastroscopy as neither CSID nor Coeliacs disease had been ruled out.

In his meeting report he made it abundantly clear he thought she had CSID.

The crazy Invertase trial

So we leave this enlightening appointment clutching a precious piece of paper. It's a prescription for a one week trial of Invertase. One bottle of precious Invertase that is no bigger than a teaspoon.

Hooray!!

It feels like we have won a big battle!!

Right? Er..no! Wrong!!

This is when more fun begins.

So the prescription is private. It's not a valid prescription in the eyes of the NHS. Even though we joyously send it to the doctor and Millie's (NHS) consultant, even though it has been written by the hand of a top paediatric gastro enterologist from one of London's most renowned paediatric hospitals, it is worthless and does not allow either of them to now prescribe it.

Why?

We dig a little deeper.

We ask two pharmacies to give us a quote for the week's trial of Invertase. Bearing in mind that this tiny vial is not really medicine, it is just some digestive enzymes that help digest sugar...it is made in a laboratory at Newcastle hospital in the UK.....the cost to us to buy it (after passing through a wholesaler) is a staggering £550 per bottle for ONE WEEKS medicine. 

The bottle is smaller than a teaspoon...

The cost to produce it is £40...

Is this kind of crazy mark up what is sinking our NHS system? 

As most people buy their NHS prescriptions blissfully unaware of the actual cost to the NHS, cleverly concealed by the smokescreen £8.80 flat rate...who are the ones really rubbing their hands in glee at this shocking margin?

Certainly not us!! 

The thought of paying out over £2000 per month to potentially relieve the suffering of our little girl was deeply sickening.

Eventually by making lots of phone calls, begging, pleading and some tears of pure frustration that we were so near, yet so far, a kind soul in the hospital production unit took pity on us and we bypassed the wholesaler and managed to buy it for £200.

Clutching this little bottle of hope to me, I prayed I wouldn't drop it...

One week of bliss…

The week that followed was wonderful. 

For the first time it felt like Littlelegs could lead almost a normal life and a few times I found myself daydreaming of a future which felt much brighter for us all. She had her first proper cup of hot chocolate and obediently and willingly squirted the syringe of Invertase into her mouth. She instinctively knew this magic medicine was a winner.

She was brighter, chirpier, smiley, even cheeky...all the things that a little 3 year old should be...and her poo was properly normal, every day, for the first time ever...

Ten days later and the last few drops of the magic medicine ran out. 

We were back to square one.

Keto on !

After doing some research I decided to try LittleLegs on a Keto diet.

She has now been on a Keto diet for several months. High fat, medium protein, low carb (i.e. no sugar, very little starch). She is so much better. 

We have no idea if this is sustainable or suitable in the long term. 

We don't know if it will have long term consequences on her liver.  

It is widely reported as a fad diet that is dangerous.

We have no choice and we have no guidance. 

Most medical experts haven't heard of CSID. It still hasn't removed the bloated tummy (though it's much better). She is still frequently too tired for a 3 year old. She can still be scared of food. But she is now comfortably gaining in weight at last and bit by bit in confidence.

It is a relief.

Little Leg's second Gastroscopy at Sheffield Children's Hospital loomed closer. 

It had to be a finely tuned logistical endeavour as Longer Legs had to come too.

It was a 400 mile round trip and we did not want to leave the 6 year old sister on her first ever sleep over while the rest of her family were on a road trip to Sheffield.

It went as smoothly as possible. This time the wait for results would be just 3 weeks.

6 weeks later…

An agonising 6 weeks later a letter plopped into our letter box.

We had just had our first proper family day out ever to the seaside thanks to a wonderful piece of equipment called a Cobb (oven in a box) which allowed us to cook a selection of meats and steam some green vegetables for lunch (sadly not for us the option of risking eating out or grabbing a sandwich 'on the go' to feed a hungry mouth, it was a major logistics exercise).

We arrived home, the children were tired, we were tired..

We saw The Letter as soon as we walked through the door.

I hid it.

I couldn't bring myself to open it in front of those tired little faces. 

I didn't know how I would feel about the words in this letter or the news that they would bring. 

On the one hand we would love to eliminate those four letters from our life forever and all the frustrations, battles and life changes they would bring. 

But also if it wasn't that, what was it? 

On the other hand we just needed to know so we could get on with it. Better the devil you know, or was starting to know.

I waited until their little weary legs had disappeared upstairs and I had a few moments to digest the news alone. I ripped open the letter.

And there it was. 

Sucrase- Isomaltase Deficiency. With Anaemia.

Recommended treatment: exclusion of starch and sugar from the diet and Invertase. 

Bingo. I sat down. Tears flowed down my face as all the months and years of pure frustration, pent up anger, mixed with a bitter sweet relief welled up inside of me like an insatiable volcano.

Little Legs enzyme levels are not zero. They are low. 'Borderline' has been bandied about which probably explains why the diagnosis took a little bit of working out, a discerning eye that could match the results to the symptoms. 

As unwitting experts in this condition we now realised that whether the enzyme levels are zero or low, the only real difference it made to Little Legs was in the length of time it took her to reach her 'quota' before the symptoms appeared. 

The severity of the symptoms appeared to be the same as someone with zero levels.

Little Legs, despite her keto diet and definite improvements, was still greatly in need of help and so were we, still feeling as though we were plummeting headlong into the unknown.

Now. 

Now we thought we could finally start to get things moving to start to help this tired, frustrated little soul.

Or so we thought.

But as usual nothing is as simple as that or very fast moving in the NHS.

As far as we understand, rare diseases such as CSID are rarely taught in British medical schools. 

Also it would appear that budding doctors are actively discouraged from diagnosing rare diseases. 'If you hear hooves, think of horses, not Zebras'. 

But we have a zebra. With the added lactose intolerance thrown into the pot, she is probably more of a unicorn. 

It would seem that 'the system' have no idea how to handle that.

The consultant (who should really have washed her hands of us as we are no longer really her problem) now has to get the rare orphan drug Invertase onto the hospital computer system. It would appear that this is no mean feat. 

Days turn into weeks. Seven of them to be precise. 

And still no Invertase. 

No follow up from either consultant or dietician. 

No care plan has materialised.

And to make matters worse, Longer Legs has now been coming home twice a week with stomach pains and diarrhoea. On investigation it seems to be after eating large quantities of starchy stodgy sugary school lunches. It is looking quite possible that another zebra is appearing...       

So finally we get it. The Invertase.

It's a big deal getting it added onto the prescription system. It's an even bigger deal getting it to appear each month. We are now allowed to order 6 bottles at a time.

That's roughly a staggering £3000 worth of medicine.  When we collect it the pharmacist always jokes with us 'please don't drop it' .

We have to keep it refrigerated at between precisely 2 and 8 degrees, there isn't much room for error.

We draw each bottle down into 2ml syringes to make it easier to 'grab and go'.

Our life has become a whirlwind of syringes, end caps, freezer packs, thermometers and fridges. The Green Goddess within me cannot face throwing all those little bits of plastic away so I wash them all out at an excrutiatingly high temperature every night and dry them for repeat use.

It's not easy, but then it's easier than seeing a child in pain. Much easier.

Life begins to take on some semblance of normality. 

Well, normality for us. 

Days out are still a mammoth task and logistical headache. (Where do we plug the mini fridge in that contains the precious medicine?) At £20 a shot we can't afford to waste it, and every drop is precious!

How did we do?

Well 3 years on, life feels different.

Millie took Invertase 5 times a day for 3 long years. 

Eventually the bloating and fatigue disappeared. Colour came into her little cheeks. The anaemia got better as her little body was now able to absorb the nutrients that it needed from her food. It pops its head back up every now and then and we have a period of delicious iron supplements (groan).

She grew tall. Very tall. This helped enormously as with her increase in height came an increase in the length of her intestines, which means the few enzymes she had are now able to break down her food far more effectively.

She now eats pretty much what she likes and takes a pill version of the enzymes which does not need to be refrigerated. This one is called Starchway. She takes it when she needs it. It was life changing to not have to rely on taking a fridge or an ice bag with us everywhere. It opened up all sorts of doors for us and we have not looked back.

With age comes wisdom and this little girl has a natural cut off point so that when she knows her body has had enough of something she stops eating. We listen to her.

She still gets tired and has 'achey legs' or 'lachey eggs' as she used to call them. She does carry a little pot of 'pick me up' glucose powder around with her. She is still nervous around trying new food. But it is worlds apart from where we were. Her elder sister, Longer Legs was also diagnosed with CSID. She struggles more with starch and lactose and also takes the Starchway pills. I (mum) also take them from time to time as unsurprisingly sugar and starch have always affected me too....

She is well and truly blossoming and gaining in confidence every day. We are very proud of her and her resilience. She is one of the kindest most caring little girls we know.

So.... everything was going swimmingly well.

THEN ....BAM!!!

At 8 and a half years old Millie had a skin infection (she seems prone to them - her IgA is non existent). She had 4 courses of antibiotics and back came the sore tummy, the achey legs and the extreme fatigue. We knew that the antibiotics seem to have taken us back to square one.

It's been just over a year since we have had to ask for Invertase, it didn't seem right to keep going with it when it costs so much to the NHS and we were able to reduce the dose and get rid of it completely, using the Starchway tablets that she takes occasionally that we import from Holland ourselves at £75 per pop.

Now however she needs the Invertase back, its's much stronger and she needs it every time she eats and drinks to get her gut back to where it was and make sure there is no residual sugars left in there, which can then allow all the bad bacteria and yeast to thrive and take over, causing bloating and diarrhea.

We popped by the surgery and asked for her usual repeat prescription. They looked blankly at us and said 'oh no, it's been WITHDRAWN'!!!!

My jaw dropped. Realisation dawned that I had been utterly stupid not to keep going with it after the fight we'd initially had for it.

Phone call after phone call, letter after letter, email after email and we still have not got anywhere!

The doctor can't prescribe it as it's been 'withdrawn'. The consultant can't prescribe it as she is saying it 'is not prescribable'. We know that is not the case as we have spoken to the Newcastle Royal Infirmary where it is made and they have confirmed that it is totally prescribable.

The previous consultant who prescribed it before has said we should buy 'bakers yeast' off the internet. Unfortunately bakers yeast is not fit for animal or human consumption and they want us to give an unregulated, unverified chemical to a small child with significant gastro issues - surely that is pure negligence?!

Both consultants also suggested we avoid sucrose. They don't seem to realise that sucrose is actually in 90% of all foods, so that would rule out most vegetables and fruit. They suggested she should eat meat, fish and eggs until she is better!! We know that this won't work because we tried that when she was younger - she was on a 5 food diet for 18 months and she only started to get better when we introduced the Invertase.  Plus the fact that not eating fruit and vegetables is just not really nutritionally viable for a human being.

The main sticking point seems to be the funding - the ridiculous internal NHS markup from £40 to £550 per bottle and the fact that the consultant says it is 'unproven' that it works - which of course is the case that an orphan drug will not have had the necessary medical tests when it is a very rare disease - there are possibly not enough cases of it in the UK to carry out any proper research.

In vain hope we have contacted our local MP who knows how the Health department works. We are waiting with baited breath... and in the meantime we have biked 5 precious bottles down from another very kind CSID family to tide us over.

We have begged, emailed, written, campaigned and still we can't get the enzyme support Invertase that she desperately needs. Millie has now been struggling for 6 months, and the impact is very telling. Whilst we manage as best we can at home, cooking everything from scratch again, reducing sucrose  and starch as much as possible for  a child who is now very aware - and hates to de different from her friends, the psychological impact of this cannot be underestimated. This is such an important time for a developing child entering puberty that she maintains a healthy relationship with food, not one that is surrounded by fear of being ill from it.

But the truth is, Millie is now exhausted much of the time, only able to flop on the sofa the moment she gets home from school, unable to participate in any after school clubs as she is so tired. She is shaky again, pale, often sweaty and we see very noticeable slumps in her energy. Her stomach hurts her every single day, her legs hurt and she often refuses to eat, just saying her tummy hurts and she is not hungry. We do have a few precious bottles of Invertase from the kind CSID family but we are not allowed to use them at school because they are not prescribed to her, they don't have her name on the bottle and we are therefore a 'safeguarding concern'.

Over half term we were able to use the Invertase and stayed at home to try to build and boost Millie up. She gained a kilo whilst she was at home! Now she is back at school, and having withdrawn all enzyme support for 10 days before the gastroscopy, she has lost that kilo again.

We popped  a glucose monitor on her as we were concerned about her very obvious energy slumps. We were surprised to see her readings dipping down to as low as 2.9 / 3 during many nights and often in the day, it's easier to manage in the day as we can give her a snack when we see her slumping. at night we can't do anything about it, but we sure feel the aftermath in the morning. She wakes up shaky, confused, disorientated, unable to walk, she crawls across her bedroom floor sobbing. She says her legs and arms have no energy and her achey legs are back. She is often late to school as a result of this (and so therefore is her sister) and sometimes she doesn't make it into school. We have to feed her glucose tablets all day every day to just keep her energy levels normal.

And the endocrinologist says .....'it's normal'!

We mentioned all of this to an endocrinologist yesterday. Oh it's normal he said - it's fine for her glucose reading to drop down to 2.9, they can even drop to 2.6 and it's all fine.  So fine that during the afternoon following the appointment, she participated in a running event and then collapsed afterwards. We've been here before, being fobbed off, told it's normal when it clearly isn't, this is our broken NHS system.

The huge Invertase scandal

The real reason for Millie being denied Invertase we think is the ongoing Invertase scandal...made at a cost of £45 a bottle it is being distributed by AAH Services who, incredibly are now owned by a German investment company and they mark up the Invertase to a scandalous £800 per bottle. The hospital who produce it have described this as 'blatant profiteering' and are disgusted.

If I buy it on a private prescription, the same company have quoted me £185 a bottle delivered to my door, so I would be charged £185 and the NHS £700..... I think someone is being ripped off....!!!

Millie has now been referred to the Birmingham Children's hospital (her 6th hospital) for her 3rd gastroscopy. They want to check her disaccharide levels before they will even consider giving her the Invertase again. It seems that going into remission from this condition means that the diagnosis needs to be re-proven. Ironically the cost of the gastroscopy, with the anaesthetist, nursing staff, 2 days admission to the ward, the specialised disaccharide test, is more than a years supply of Invertase...

The scary 10 days

So ten days ago we withdrew all enzyme support to prepare for the gastroscopy. We didn't want to do this and have fought it with every ounce of our beings. We knew it would make Millie ill. Who in their right mind would want to not only MAKE their child ill knowing there is a way to make it better / to make it stop, but also has to watch the health of their child decline? A mummy's job is to look after their child and to nurture them, not to knowingly make them sick. BUT if we don't do this and don't put her through the gastroscopy, we know they will not even consider re - prescribing the Invertase. So we are damned if we do and damned if we don't. We are stuck between the proverbial rock and the hard place. 

Day one and two were as expected, sort of ok, apart from a sore tummy. Then, day three, she ran her little heart out in the school sports day, scooping up 4 gold medals in 600m, 300m, 80m and High Jump, setting a new school record and winning overall Victrix Ludorum. She is an amazing athlete. Then came the crash. The following day she literally collapsed, it was scary. No amount of glucose seemed to help, she was shaky, sweaty, her legs wobbled and could not support her, we had to carry her everywhere, her stomach hurt and she refused to eat much at all. The following day she could not make it into school. 3 days later the same thing happened, she did some running, when she finished she wobbled and collapsed, she couldn't talk, I managed to get food and water into her but she was flat out.  I took her to hospital. Her blood pressure was really low, I suspect her blood sugar had been really low too.

The Birmingham Children's hospital where she is having her gastroscopy are going to admit her for tests the day beforehand so they can also monitor her while she fasts for the general anaesthetic.

The third gastroscopy. The third time we have to sign a disclaimer waiving the right to sue the hospital if the unthinkable happened and something went wrong... we are well versed with the risks now..damage to the intestine..... puncture of the intestine wall.... failure to wake up from the anaesthetic...yes minimal risks, but risks we should not have to be signing away for a THIRD time had the first two gastroscopies and the disaccharide assays been carried out properly the first time.. not to mention the psychological impact on a small child and the stress to her family.

The first gastroscopy was not valid as the small samples cut from the intestines took FIVE days to arrive at the lab instead of five HOURS by which time they had collapsed and were pretty much unusable and certainly not reliable. The second one had samples removed from the wrong part of the intestine - it should have been from the Duodenum and instead were taken from the Jejunum, meaning the results from the enzyme test would always have been artificially higher, so were not considered reliable.

So the third one was carried out by a lovely lady consultant who actually really listened to us. She heard our concerns and bent over backwards to ensure that this one was carried out properly, even going the extra mile to bike the tissue samples up to a lab in Scotland to get all three enzymes checked, made sure she took them from the correct part if the intestines and carried out a hypoglycemia screen to try to figure out why Millie can't seem to store glucose in her body.

We waited 8 agonising weeks for the results.

Finally we got 'The Call'. 

She contacted us personally to discuss the results over the phone and we knew once and for all what we had known all along. Her disaccharide levels were low, much lower than we had thought. This was not borderline, this was beyond any further doubt. She simply does not have enough enzymes to digest sugar, starch or dairy, ruling out most of the foods we all take for granted.

The enigmatic Invertase replacement enzyme which was 'impossible to prescribe on the NHS', according to Millie's previous consultant, was now immediately available to us, albeit we had to trek up to Birmingham hospital the next day equipped with a fridge to collect it. 

When we collected it, however, we realised that she had only been given half the dose of when she was a baby!! As I had previously been accustomed to battle for EVERYTHING, I lined all my ducks up in a row, speaking to a top biochemist to understand how many ml of invertase are needed to catalyse how many grammes of sucrose, and went prepared to go into battle. 

I was pleasantly surprised that as our last few drops of Invertase ran out, we got an email to say that the dose had now been corrected and there were another 14 bottles waiting for us!!

FINALLY.

Now Millie is back on Invertase, for the first time in 10 months, her stomach has finally stopped hurting.

It is a huge relief. However, her energy levels are not what we would expect them to be, her legs still get achey and unless she constantly snacks on biltong meat based snacks between meals she becomes shaky, withdrawn, angry, sometimes delirious. We are still relying on a continuous glucose monitor (we fund this ourselves) to try to manage what appears to be a blood sugar handling problem.

We are waiting for a referral to the Evelina in London to a specialist Metabolic team. The endocrinologist who told us she was 'perfectly normal' and that there was nothing wrong, very begrudgingly wrote us a referral letter that made my skin creep. Again we are battling. It's never ending.