Non Acidic Reflux

OK, so the Omeprazole appears to be keeping the acidity down, but reflux is still a big problem. We didn't get far last Monday at Great Ormond Street with pursuing a GJ tube (we were with the metabolic team, not Gastro), but we left messages with the Gastro team, but sadly, no reply.

A GJ tube (gastrojejunostomy) is a radiologically tube inserted via her already well established gastrostomy, placing a deeper tube directly into her jejunum. The idea being that feed is not given into her stomach (where it can often sit for hours then reflux upwards into her oesophagus), but directly into the jejunum, the first part of the small intestines.


The process is then checked via X-Ray to confirm correct placement. As she already has a gastrostomy, it doesn't require any further surgical procedure, and as she is just over the minimum 10kg weight limit, so qualifies in that respect too.

We are already aware of the limitations and risks (you can only slow feed, medicines still go via the G tube and not GJ, tube can come out, etc) - but with Leyla's persistent reflux, and the high risk of aspirating feed into her lungs, this in my view, is a fairly minimally invasive procedure (she already had the op for a Gastrostomy - a clean and established Stoma exists), so it's a fairly low-risk procedure that may not yield much benefit, or it could for Leyla be the greatest thing since sliced bread.

Flu Jabs

Leyla had her H1N1 (swine flu) jab today. As a child with an underlying health condition, she qualified as as being in the high-risk group, the first group to be given access.

She's already had the first part of the seasonal flu jab, with the second part next week. For young children, the seasonal flu jab is divided into two smaller doses.

No major adverse reaction so far - just maybe a little sleepier than usual.

Long chat with our Metabolic Consultant

Thanks for your messages of support for Leyla, both here, phone and email. She's good at the moment - and if she is, we are too! Leyla is back at her morning school today.

Ok - here's some news. Something I suspected and wrote about several times is now being openly, freely discussed by the Doctors. Namely, Leyla's Mitochondrial disorder is now considered unlikely to be Primary. Long awaited DNA assay results showed no mutations in areas known to cause primary Mitochondrial dysfunction. This was a manual assay.

I think it was this evidence that now leads the Docs to openly say "we think Mito is most likely secondary"

Whilst the DNA results don't in themselves eliminate primary Mito for certain (this could be a new - thus far unknown mutation), data gathered so far, and when carefully considered together as a whole to include symptoms and her general clinical picture, does indeed point away from Mito as a primary condition, to be secondary to 'something else'.

I suspected this for some time, previous posts on this blog talk of this - but it's important that our Metabolic consultant who is an expert in this field, freely say this.

That Leyla has a Mitochondrial disorder (Cytochrome C Oxidase (COX) deficiency, of that there's no doubt.  She has Mito dysfunction - but it's not genetically confirmed, and now unlikely to ever be. Therefore it is now prudent to consider the increasing likelyhood that something else, a different condition, is causing the suppression of Cytochrome C Oxidase.

It's perfectly reasonable to think this. There are one or two known conditions that can 'masquarade' as a primary Mitochondrial disorder, and probably lots more that are unknown, or ever will be.

Of the the known conditions that I'm aware of, one is Cerebral Creatine Deficiency. This is being looked into as we speak (GAMT and in particular X-Linked Creatine Deficiency in Females).

For completeness, here is the key data that  we know so far

• Cytochrome C Oxidase (COX) deficiency was detected in thigh Muscle
• No COX deficiency was detected in skin fibroblasts
• Lactate and Pyruvate consistently low/normal in Blood and Cerebral Spinal Fluids (repeated tests)
• Manual DNA assay results (took 9 months) found no mutations in genes known to cause Mito
• SURF1 and POLG tests returned normal

Other tests

• MECP2 clear - however CDKL5 test was not performed - This has now been requested
• Cerebral Folate - Normal levels of 5-MTHF
• Cerebral B6 - Essentiall Normal
• Aromatic Amino Acid Decarboxylase - Normal Homovanilic Acid 

Where does this leave me? Confused.

It may still be primary Mito - it could still be. It could possibly be CDKL5 (atypicall Rett as this was overlooked). Or it may be secondary to something else - something that we'll never find anyway - Or it may be secondary to something that we do find, but is non-treatable anyway - or it could be treatable....

Like I said. Confused.

 

Off to Great Ormond Street

And Leyla in a bad way again this morning - so they will see her at her worst again. I think the G-J tube is now a must as last night she aspirated feed into her lungs. This is not good. I hope this time there's no nonsense and we cut to the chase and get a GJ Tube arranged. Don't get me wrong, I would love not to have to put her under another medical procedure, but aspirating is dangerous.

Ok, leaving now - not looking forward to the drive with Leyla in pain - but it has to be done.

James is Running The London Marathon For Chase!

As mentioned in a previous post James Lamyman, a friend of mine at work is running the Virgin 2010 London Marathon for Chase Hospice. He was touched by Leyla's story, and super impressed by the work Chase do for children with life-limiting conditions.

You can donate by clicking the logo below. He's using the Virgin Giving site, and all donations go directly to Chase Hospice straight away! Oh, and if your a UK taxpayer, don't forget you can claim 'Gift Aid' to pass on the tax break to Chase too!

Click the Logo below, and sponsor James

It's Back Again

What a night so far - and it's only 9:20pm. This looks too familiar. The same elevated screaming for hours on end that we'd thought we'd seen the back off.

Now I said before that I won't use profanity on my blog. But frigging hell, what's going on? The only thing that springs to mind is  we are at the tail end of weaning her off the glucocorticoid steroids (Prednisolone). 

Could this be it? The only medicinal changes are the weekly dose reductions of Prednisolone, and the weekly titration of Trihexyphendyl. That's it. That's all that has changed. Everything else, Carbamezepine, Sodium Cromoglycate, Gabapentin, all the same as before.

I doubt the Trihexyphenydil which was started about 3 months ago and slowly titrated could cause the return of symptoms we've been seeing long before it's introduction.

Logically, it has to be the reduction of the steroids that hitherto has controlled the eosinophilic colitis - but now down to just 5mg per day - maybe this is not enough anymore, and become a sub-therapeutic dose. Or maybe the course was too short. I just don't know.

But frigging hell - Chloral Hydrate, something we haven't had to use for several weeks reluctantly had to come back out  because she already had 2 doses of Midazolam, one when I was at work, and one earlier this evening.

She's been like this since 3pm this afternoon, she needed a break from pain, and is settling down, albeit through sedation.

Oh for f.....

Fundraising for Chase Hospice

A good friend of mine at work recently decided to run the 2010 London Marathon for Chase Hospice! James 'L' has already started training, and very soon he'll put into place the processes for making donations (he's currently planning the most efficient way to maximise sponsorship coverage), so as soon as he get this in place (he'll probably set up a justgiving site) , I will make it known on this blog how to sponsor. I could have waited until all was in place, but hey, I'm excited about this.

If you know James 'Jimbo' of ISTD, you'll know he doesn't do things by halves. A black belt in the Martial Arts, and as fit as a butchers dog on steroids (not James of course, that'd be libellous and untrue, but the butchers dog in my analogy), I think he will do an impressive job  - not just in the running, but raising both funds (he's a persuasive guy) and raising awareness (he's a persuasive guy) of the fantastic work Chase Hospice do.

I'll keep you posted on developments and how to sponsor James. Watch this space.

Still on fundraising, my work has also elected my nomination of Chase Hospice as Corporate Charity of the Year 2010, which again is brilliant, massive news. Again, this will help raise funds and awareness - the two key elements Chase Hospice (and indeed any Hospice) needs. So my thanks to everyone at work who voted for Chase, and those who informed, cajouled, and encouraged others to follow suit, a big thanks!

Ah, it's good to post something positive in the evening. It's the sound of victory.

Rett Syndrome Testing Results

The genetic testing for Rett Syndrome came yesterday, and these are clear. Rett syndrome is a genetic disorder affecting girls, which usually manifest as normal early neuro development, followed by a loss of purposeful use of hands and arms and neurological sequelae. It almost always exclusively affects girls.

Mutations in the MECP2 gene are typically found to be the cause, and in most cases de novo (ie not inherited, but a new instance - in other words, spontaneous) - but thankfully in Leyla's case, the tests returned as negative.

The Dr's wanted to rule Rett Syndrome out as a primary cause for Leyla's development and neurological issues, and whilst the test rules out about 80% of the possibility, it is now thought highly unlikely that Leyla suffers from Rett.

So - it's another thing we can strike off the list.

Physiotherapy

Leylas' physotherapist was delighted to see Leyla responsive today - best she's seen her in ages. Her head control is getting a little better, and when placed on her tummy, you can see Leyla clearly attempts to raise her head upward - so this is a great development. Leyla spent a good deal of time in her standing frame too, and the Physio noted that she probably doesn't require the leg gaiters as much. So encouraging news.

We've given up on the idea of counting the good days for superstitious reasons. We figured that in the past it always ended in tears - so this time, neither Sony or I are talking to each other about it - no counting just yet -  just silent, knowing glances. Don't want to tempt providence again.

Not that I'm superstitious - I'm not (touch wood), but we'll try it this way - just in case...

A Good Weekend

A good weekend actually, pretty good. No need for any pain relief, and I had a chance to go out on Saturday without the family, just me and a friend. This has to be the first time in nearly two years! And it was good, it felt good to get away for a few hours and watch a football match.

Yesterday (Sunday), as a family we also had a chance to sit together and watch a movie - uninterrupted! - it was great (not the movie - that' was so-so,  but the opportunity!)

The only 'incidents' of note is delayed gastric emptying and consequently (or at least I think it's consequently) reflux. But I'm not going to let these steal our moment in the sun - it was a good weekend, and we all enjoyed it.

Simon Cowell at Chase Hospice

Click here to read the news about Simon Cowell's visit to Chase Hospice yesterday. He's become the patron of Children's Hospices UK, and he's an all round good bloke in my book.

Also, Leyla now has a page on the Chase Hospice website, click here to view.

Good on ya Simon.

Flu Jabs

If you've been keeping tabs on H1N1 (swine flu) in the news, you'll have noticed that those with underlying health conditions are at most risk. We've spoken with Leyla's Paediatrician and Palliative Care Dr, and both were clear on this - Leyla should receive the vaccine as soon as it becomes available, and because of her condition, she would be included be in the first round, which is those at most risk and healthcare professionals.

In the interim, yesterday Leyla had the first of two seasonal Flu jabs - because of her age, this has to be administered as two smaller separate doses several weeks apart. So yesterday was the first.

You know, I'm not terribly keen on vaccines as I wonder the effect it may have. You'll be told that they've been extensively tested - and that may be true, but how many kids with Cytochrome c Oxidase have they used it on? Not many I would guess.

However, I have to assess the risk to benefit ratio - and getting either the seasonal flu or H1N1 would be potentially fatal - so we will proceed, and have already started to.

And, in true belt-and-braces style, everyone else in this household will also get the the jabs. And that's gonna cost me, as my son hates needles - unless of course I wave the latest PlayStation 3 game in his face as the nurse readies his arm.

Bubble Busting

A good day so far, Leyla appears content and settled. But this post is about something interesting thing happened this morning. While Sony was getting Leyla ready for a feed, Leyla's mickey button just fell out. That's right, litterally fell out.

For those in the know, the balloon holding the G-tube in place had developed a catastrophic leak and deflated. It's only about 2 months old. For those not in the know, those not in the 'G-Tube club', this means the whole feeding mechanism has come out, leaving a gaping hole in Leyla's skin and stomach. Normally this is replaced every 3 months by our Community nurses.

Distressing as this may be, there's no need to panic! "Don't Panic Mr Mainwaring!", or so said Corporal Jones in TV's 'Dad's Army' -  Sony simply retrieved our spare mickey button, and carefully inserted the new unit into the stoma and stomach, and inflated the new device  using the prescribed 5mls of sterilised water. Job done

Sony and I were musing weather the leakage has in fact been going on for a few days, and letting in air directly into stomach - thus causing intestinal pain (air in the intestines is really painful - it stretches the gut - and that hurts a ton). We last changed the water 6 days ago, and it seemed OK then. Well it's a theory anyway

It's back...

Haven't posted for a few days - and the reason? Leyla's pain episodes are back. After 11 blissful days the GI related pains have re-emerged, and we came crashing down.

Not much else we can do apart from continue the steroids and hope this is a blip - but today is day 4, and already one dose of Midazolam has been required.

Had a big meeting today at home with the Dr's, Nurses, and Palliative Care  - and we're drafting a new pain management plan.  With immediate effect we can increase her Buccal Midazolam dose to three times a day from the current maximum of two (if required).

How disappointed are we that after eleven good days we came crashing down can only be explained in expletives which I won't use -  but you can guess what I'd say.

GAMT Deficiency?

Just got of the phone to Great Ormond Street, discussing Leyla's test results for GAMT (Guanidinoacetate Methyltransferase) deficiency. This is a Creatine synthesis deficiency that results in an increase in Guanidinoacetic Acid in the brain, with a reduction in cerebral Creatine.

Excess levels of the acid is toxic to the brain, and can result in mental retardation, extra-pyramidal movement, and seizures  Results of her urinary GAMT test showed her GAA levels to be 388. The normal range is between 2 and 220 - so it's over the maximum level, however, for true GAMT deficiency they'd normally expect to see the figure to be higher than 388, normally from 500 to 4000. So in truth it's not massively over the maximum.

However - there's a consideration to be made. GAMT deficiency is only a newly discovered condition (1997 was the first discovery), so there's still a lot to be learnt, and with only a few dozen confirmed cases worldwide (probably because it's under-diagnosed - not necessarily rare, as the authors suggest), there is one documented case of GAMT deficiency in similar range as Leyla's - so while GAMT deficiency at this stage doesn't look like a smoking gun - due to her elevated level, and it's rarity, it can't be dismissed out of hand.

Great Ormond Street also believe this is worth persuing, as a urinary level of 388 is still higher than they'd have liked to see, so a blood test is being arranged for this Wednesday to investigate weather the acid levels in her Blood are also high too.

A little blip - but still on the road!

Last night there was a moment of fear the good period may be ending - luckily this was just a blip, and not the usual pain episodes we'd seen before. I think Leyla just had some nausea late evening after her meds, but after a few hours, she eventually setlled down for a good nights sleep.

Considering a lot of her meds can cause nausea as a side-effect, seeing this from time-to-time is not surprising - so, after a short scare, relief that we're still on track .

Today is  Day 11. Huzzah!