untangling this thing we call life…

Tag Archives: Noonan syndrome

take_life_one_cup_of_tea_at_a_time_poster-r89922c11c94248558e03c755378040f3_rjc_8byvr_1024I’m sitting here, reeling once again from the shock of diagnosis.

The strange thing is that this is actually not a new diagnosis, nor is it a serious one. In Little’s life, this is but a mere blip. Turns out, diagnosis shock is real, regardless of the seriousness of the dx…

And yet, having gone through the sadly typical journey of diagnosing him myself, getting righteously angry at the slip up, seeing the doctor and having a formal diagnosis and now a course of action, I’m now shaking and teary. Emotions are funny old things.

Having a child as complicated as Little means that more mundane childhood issues sink to the bottom of the pile. And the follow up visits with the paediatrician simply don’t address them.

Ten years ago, almost to the day he received a diagnosis of virally induced asthma. This was following a bad spell of croup which has left him in hospital – again.

We were given a preventative inhaler, with very minor instructions, and that was the end of that. No asthma action plan, no checking on inhaler technique, no reviews… in fact, it was as though the diagnosis was so minor as to be irrelevant.

Over the years, croup reared its head, we always ended up in hospital, ill for days, losing weight. I always mentioned the asthma, but it was never heard, and I didn’t push because it didn’t feel serious or even quite real.

This week, the boy has been coughing fit to burst. We haven’t slept for nights, he has hardly eaten a thing. We’ve seen doctors, had steroids, ended up in hospital (luckily not in-patient) and the cough just goes on and on, only stopping after using his salbutamol inhaler.

In desperation, I googled.

Guess what?? Asthma doesn’t always come in wheezy form! It can also be “just” coughing.

And Little fits the symptoms absolutely perfectly.

We are now in a protocol, in a system. We have a suitable gizmo for his inhaler, we have spare inhalers. We have an appointment with the asthma nurse, and will have an action plan and all the paraphernalia needed at school. In other words, we finally have a proper diagnosis that brings with it a plan of action.

I’m hugely relieved.

I’m also feeling dreadfully guilty that had I kept on top of this, we would no doubt have avoided countless hospital admissions, and that this week he would have been spared a lot of distress and pain.

There’s no one to blame, and everyone. This was picked up early, really well, but was never actioned!

We finally have a care coordinator at our main paeds hospital, whom we are due to meet next week. This is typical of the reasons we need a doctor pulling everything together. I may be on the ball, I may do a lot of research, but I am no replacement for a doctor with medical training and experience.

Now I’m off to make a cup of tea, allow myself a few tears to process all this then get to the laundry to have the house ready for the boarders to come home for their half term…



I think about it ALL the time. Not because I’m hungry but because my Little is not.

Don’t get me wrong, 9 times out of 10 he will eat chocolate if given the chance, or sweets. And fairly often he will ask for crisps or chips, or even a crumpet. But half way through that crumpet, he is full. If I were to push (when he was younger), he would continue to try eating and vomit.

We do not know why he does not get hungry, and doctors haven’t even begun to listen to me about that aspect of his feeding difficulty. They are stuck at the gut – is it too slow, is it diseased? (Maybe, and no are the answers to those questions)

My reality is that he is eleven years old and has been utterly reliant on tube feeding since he was 8 months old. I am a tubie mum veteran.

I have ridden the waves of vomit using the various and wondrous concoctions given to him by the pharmaceutical companies (excuse me, the dietitians, who aren’t one little bit biased by those companies – no they’re not!). I have seen him fade away into nothingness and look a ghastly mixture of grey and yellow. I have watched as doctor followed nurse, followed doctor try to stick a cannula into a vein in order to rehydrate him. Knowing that they needed to stop sticking him with needles, knowing that we were creating trauma, and knowing that they could not stop because with every moment that passed, he needed fluid more, and with every moment that passed his dry little body was narrowing his veins.

I have stood against the medics, taken my gut instincts into my hands, learned more than any  mother should ever need know about food, and calories, and fats and proteins and vitamins and minerals and digestion, and I have advocated for that child. I have watched a dietitian write in bold red letters: Mother going against medical advice.

And I have made that Little food, and blended it and sieved it and worked and worked to get enough goodness into the tiniest volume so that his body would not reject it.

I have spent each and every day of the past ten years feeding him every two or three hours, and overnight. We have a magic pump that allows me to sleep, and feeds him drip by drip so that the precious liquid stays inside, and hopefully translates to growth and energy. I have been up more times that I can remember to deal with the various alarms that pump gives off. Now, each time I hear that beep when out and about, my heart starts pumping and my body stands to attention. It takes a few minutes to realise that mine is not the attention being screamed for, that the pump in question is another child’s.

I make Little’s food every day or two. I have a recipe, but I question myself ALL the time. Do I need to rethink it, to recalculate? Have I missed something, should I be doing more, has his growth been enough to justify a change?

I think about food ALL the time.

I am not part of a team. We have doctors and nurses, and wonderful school teachers, and they largely follow my lead. I have no dietitian. Yet. I have no one to work with, to figure out a way forward.

Because this is an odd situation. The general consensus of “they” is that he will one day be tube free. He is mobile and intelligent and there is no physical reason that we can find to explain the need of tube feeding. So no medic will say or write that Little is “tube fed” in a permanent manner. I struggle to get them to acknowledge “for the foreseeable future”. In spite of tube weaning failure on a number of occasions.

Don’t get me wrong, I am not looking for a doom laden approach. But if he is one day to be tube free, we should have a team. It should include me. It should also include professionals who have experience in this area – the psychology of tube weaning is what has me ranting today, so a psychologist; a dietitian; a doctor. And as a team we should make a plan. I know that plan A is very unlikely to work, but as Eldest’s head of care wrote to me this week,

“If Plan A doesn’t work, then we’ll move to Plan B, then C, then D, then E and so on until we find a plan that works”

I have no plan. I do not have the ability, experience or knowledge to make a plan, and as Little’s mother I am the last person able to put any plan into practice. Most people will understand that mother and pre-adolescent coming head to head on such issues is a recipe for disaster.

Little hates his tube food.

Little hates thinking about food.

Little hates the feeling of his stomach filling.

Little fights me whenever food comes up – so breakfast, snack, lunch, snack, dinner. Whining, shouting, screaming.

I can avoid some fights when it comes to oral food. I make it his choice, but then he is miserable because even if his stomach is not hungry, his mouth is and he does not know what he feels like, and cannot find anything to satisfy that feeling. I suspect he feels failure too.

How can I avoid the fights about tube food? That is what keeps him healthy and alive.

He HATES tube food. It’s boring, it takes too long (about 3 minutes), there’s no point, it doesn’t do him any good. And anyway, he’s in hospital “all the time” as it is, so it wouldn’t make any difference if he was ill. He’s tired all the time, so it wouldn’t make any difference if he didn’t eat.

This is the discourse he proclaims. The confusion, misunderstanding, frustration, anxiety and anger are growing as he is getting older.

We should have had a team years ago. Years. Ago. Specifically to avoid This.

I am patient. My children have taught me not to raise my voice. They have taught me to accept their emotions, both bad and good. But I find myself raising that voice when Little screams at me that I am mean and stinky and evil because I want to feed him.

There’s been a lot of chatter in the last few days about the pain suffered by people with Noonan syndrome.  It’s something that has only recently been acknowledged by the medical profession, and a beautiful aspect of the internet is that patients and their parents communicate.  Then, as a force to be reckoned with, we approach our doctors and tell them, and repeat over and over again that so many of them suffer chronic and severe pain that they eventually start looking into it, and even more eventually agree that it is definitely a characteristic of the syndrome.

Theories abound as to its cause.  For years, Tom’s pain was dismissed as growing pains.  If you could see his growth chart you would see quite how laughable this is.  Here is a child who would scream in pain every single night for years and years and years, and yet there is no growth spurt on his chart at all.  Just steady, tremendously slow growth.

After six years of this, I wrote a letter to all the professionals involved in his care, and one doctor responded, getting him referred to the chronic pain team.  His pain has since been managed.  It is far from gone, but thanks to medication and physiotherapy and a lot of pacing, he rarely screams at night.

This got me thinking though… so often when one of our loved ones is ill, or dying, or has died, our first question to the medics is a pleading, “but did he suffer?”.  And reassurance is given and sought in the negative.

I am the mother of a child who does not know a life free from pain.  Pain is simply part and parcel of getting on with moments.  So what of me and what of him?  Do we not then achieve the peace that comes from knowing no pain was felt?

The more I think about this, the less sense it makes.  I’ve been lucky enough to endure a reasonable amount of pain at times in my life.  From the time I was ten, my legs and joints were very painful – I was never without some kind of tubigrip or bandage or pain medication.  I never really though twice about it.  A few years ago I hit crisis point.  I could not walk to the end of our road without pretty much collapsing, and I never achieved deep sleep due to widespread pain.  I was diagnosed with fibromyalgia.

[I’m fairly sure this was misdiagnosed… since cutting out gluten and dairy, nearly all of my symptoms have disappeared – pain free is pretty cool! ]

So…. speaking from the other end, this is what I noticed.

Pain is not a life choice.  It is not something that one willingly enters into.  But at the same time, the endurance of pain is not actually that big a deal.  You do what you can, you take medicines if they help, you manage the pain as best you can, and then you kind of get on with it.  Your life can become very restricted, and that can impact on your mood.  But it truly just … is.  I never felt as though my identity had been taken away, I never felt as though there was no point in anything any longer.  While I am sure some people are pushed to that, I think that those extremes of pain are in a different league, and that more likely is that there is another underlying problem causing that depression.

Pain from the perspective of the person enduring it is no fun.  But it is much easier to endure it than to watch someone you love endure it.

Seeing my loved ones in pain, either physical or emotional is far harder (and dare I say it, more painful) than even the worst day of “fibro” pain I suffered (and there were days I spent constantly in tears because I hurt so much).

I come to think that our desperate plea for our child, our partner, our parents not to be in pain is far more selfish than we think it may be.  The idea of pain is utterly dreadful, and our emotional hurt is something we desperately shy away from.

Little Man comes hand in hand with pain.  And after ten years, I am seemingly quite cold hearted about it.  I still insist he gets up, climbs the stairs and comes down again if he has forgotten his socks in the morning.  Once he has told me two or three times that he hurts, I will ask him not to whine because I cannot take the pain away.  I will administer medication, heat or ice packs and massage, but whining just makes me narky, and that’s no good to anyone.  His pain is physical, and quite, quite horrid, but if I allow myself to hurt emotionally in reaction it will damage my ability to help him as his carer.  It will also give him the message that pain is quite literally dreadful… something to be dreaded.  And if you dread something, your body tenses up.  And that will increase the pain.  So in his case, it’s really a case of tough love, baby!

Sweet Girl and Eldest are much more complex for me.  They experience a great deal of emotional pain.  Anxiety, fear, dread, anger at times, confusion… all of these almost constant emotions lead them to be very fragile, and they just hurt.  Tough love doesn’t help here.

I am trying for myself and for them to learn a little about acceptance.  To embrace the fact that life is not about just happy.  That it is a constant ebb and flow, and emotions and circumstances are all part of that ebb and flow.

Sweet Girl told me last night she was panicking (she is due to board at school and is getting nervous).  My response a few years ago would have been to wrap her into my arms and try to make the panic go away… reason it out of mind.  But last night I told her that it was ok.  That she could just let it happen for a while.  This new situation makes nerves appropriate, and we know that when she is nervous she tends to panic.  So actually, panic was perfectly reasonable.  We focussed on the idea that it would pass.  She wasn’t entirely convinced, but we spoke of listening to a CD or reading an easy book to try and let the panic drain away without being fed by made up worries.  She kissed me and went to bed, and was asleep twenty minutes later.

Eldest is supposed to be at school as I write this.  We haven’t left home yet.  Darling Man has had to take the day off work, because we had fears about Eldest’s aggression.  He’s just scared.  A lot of it is Aspie reactions to transition, and a good deal more is pain that his best friend is no longer there.  And he’s big.  So we’ve restructured our day because it’s the only thing to do.  He is in pain, and I hate it.  Writing this is helping me realise that in a similar way to Little Man’s pain, if I indulge my own pain at seeing him in this state, I am not helping him.

I will allow myself some tears on my way back home later, because tears wash pain away pretty well.  But I’ll also remember that this day, today, was painful, and that’s ok.  It will pass.

Pain just is.  Those who feel it are usually very good at handling it.  We need to accept that if there was pain it was experienced, and that makes up the sum of that person at that moment.  It need not be bad or good, but I think it must be accepted and acknowledged.  After all, if those doctors tell you that your loved one did suffer… what then?  What changes?  Not you, not your loved one, not how much you love them.  But maybe you don’t feel quite so bad… well that’s some kind of anaesthetic, but it’s not real.

Face the real, because however tough it can be, it’s brighter and braver and stronger than any fiction or fantasy.

Short update today…

Little Man Tom, as I’ve mentioned before, is struggling to grow, and keep weight on.  This despite being tube fed with lots of good nutritious, homemade food over and beyond what his height and weight suggest he should need.

A couple of weeks ago we saw the paediatrician who felt his Growth hormone treatment might be the cause of the weight loss.

Since I am the one who administers his nightly injections, I’m sure you can imagine that it has been emotionally very difficult topoke my lad knowing it might be making him ill.

But the one thing I’ve learned to do over the years is wait.  So wait I did.  Until last Friday when I felt that two weeks was quite enough to have checked a fairly simple question with the expert.  The first phone call was fruitless: no paediatrician to be found.  The second phone call led to an answer machine, so I left a message filled with both facts, questions and emotions.

More waiting…

Happily, Tom’s endocrinologist, Prof is a lovely man and quickly realised that this issue needed to be nipped in the bud.  I received a phone call a few hours later from the great man!

Conclusion… Tom’s weight loss is unlikely to be as a result of growth hormone.  Prof feels that we need to look into Little Man’s gut.  This is something I have been questioning for a very long time, so is worth investigation.

More phone calls, to find the quickest way to an appointment.  We have not seen the gastro-enterologist for quite some time, so it may well need a referral from the GP again.  I’m hoping that my phone call to the feeding clinic may provide a short cut!  We will see.

In the meantime, while the growth hormone question has more or less been put to bed, a more fundamental one about Little Man’s body has been raised…

More waiting!

Today was the day of Toms annual cardiac check up.  Little Man, due to his Noonan Syndrome, has a congenital heart defect.  Had a congenital heart defect.  It’s a funny world, this world of modern medicine.  At birth, his heart sounded quite the way it should.  A few weeks later, this was no longer the case… lots of unpleasant sounds were coming through the doctors’ stethoscopes, resulting in quite disturbing faces on said doctors.

In 2004, the doctors confidently went in through his arteries (starting in his groin), fairly sure that they could open up that pesky pulmonary valve using a clever little balloon.  They had not counted on the stubborn plasticity of this valve, which stretched for about an hour, then returned to its former, more comfortable squashed self.  All of which would have been fine if only it was letting the blood through!!  It was not a wasted endeavour, however, because it allowed the surgeons an opportunity to “see” the heart of the problem (see what I did there, with the punning?!).  Not only was Little Man’s pulmonary valve far too narrow (stenosed), but the whole area around the valve was much too small.

Two years later, in 2006, everyone was ready to go in and fix this pesky valve.  Open heart surgery is a scary thing.  We were incredibly lucky to go through it with a two year old.  I know that Tom will have to endure this again in the future sometime, and I am not looking forward to helping him handle the anxiety of what is quite major surgery.  A two year old simply takes things as they come.  Signing consent is something that is worthy of a post in and of itself (note to self… write about consent).

As it was, Little Man made open heart surgery look simple.  We were out of hospital 3 days after booking in.  Minus a pulmonary valve, and with a widened tract thanks to a bovine annular patch!

Since then, we see the cardiologist yearly.  I’m pleased to say that a thorough echocardiogram today showed almost no change since last year.  A very boring result, which is marvellous!  Tom was wonderful, lying very patiently while Senetta poked him in the chest, sometimes quite hard to get a good picture.  I had my first good appointment with a registrar, and have nothing but praise for Dr Henning Clausen… thank you good doctor for listening.

Next appointment is next year…  Hopefully by then we will have a happier overall picture, but it is rather lovely to know that “my heart is really good”, to quote Little Man as he gave the news to his Daddy on the way home.

Today was a day of hearts differently too.  The thing is, that Great Ormond Street Hospital is familiar to us because Little Man sees so many specialists there.  But unlike for other families, it is not a place we live.  Yes, we have had a few inpatient stays there, but never for more than a few days at a time.  Some families spend weeks and months there.  I’m not sure how the mums and dads manage, other than to know that when there is no choice, we rise to the occasion.

I know the exhaustion of spending hours and days sat in a chair by the bedside of a child who is ill.  I know the brain numbing experience of hours and hours of the Disney Channel.  I know the desperation of never feeling really clean.  Quick showers with a limited change of clothes is no substitute for home washing!  I know the sag of shoulders that accompanies that mediocre cup of tea made in stolen minutes in the parent kitchen.  I know the endless waiting for nurses, doctors, medication, decisions.  I do not know the impact of this life over more than a few days, but I do know that as much as the children struggle and suffer, the parents do so in equal measure.  Not to mention that horrific adult component that adds knowledge of the big picture, and parental instinct that makes you ache each time your little one winces.

So… at the end of last week I put out a little post on my Facebook page:  “All GOSH peeps, I’m coming up!  Who needs a hug?  A coffee?  Anything else?  Care packages can come your way!”.

I was so pleased that two mums were able to respond, and Little Man and I duly made our way first to the bone marrow transplant ward to visit Eric’s mum.  Her little boy is battling the same leukaemia that hit our Little Man, Juvenile Myelomonocytic Leukaemia.  A real nasty.  And Eric is just about to undergo his second bone marrow transplant in a bid to cure him.  His beautiful Mama has another little boy, only five years old so she is juggling an impossible situation.  What can I offer?  Very, very little.  A hug, an easy “hello, I know you, but how good it is to feel you, to see you, to hear you”, a coffee brought from the local starbucks, and a mini care package.  I had found some sweet packs including a shower gel, body lotion and lip gloss, all shimmering!  A body scrub to top it off and some dry shampoo for an emergency pick me up…  And unfortunately, the coffee is transient, so I added a mug and some sachets of that substitute of Starbucks, Via!  I have it on good authority of another bone marrow transplant Momma that it’s not bad at all!!

We only had a few minutes together, but I hope that she got  just a little boost today… just enough to get her through the next few minutes of an endless day!

My other wonderful friend was simply too exhausted to meet me.  I am so so pleased that she texted me to let me know she couldn’t!  She’d had a day of team meetings with doctors, nurses etc etc, in the unbelievably complicated care of her little girl.  I didn’t need to see her, I just wanted to offer my heart, a break if that’s what she needed.  And actually, it wasn’t what she needed.  She needed to spend time with her girl!  So Little Man and I popped to the door of the ward long enough to catch a nurse and hand over our care package.

Sometimes, I hope what’s needed is for a friend to offer a visit, but be equally happy to bow away if the time is not right.  So that is what my heart gave to Mama S.

All you Mamas in hospital, I send my love to you, courage in droves, hugs and the encouragement to  allow you to say:  Today, THIS is what I need.

Today, it’s all about the heart.

I’m laughing as I write the title to this post… because it’s such a mad little life I lead sometimes.  Today was truly rather an average day in the life of me… but as I was thinking about it nearly all of it seemed rather off set from most people’s realities.

The morning started well.  Sweet Girl woke up to the cat knocking at her window and demanding a cuddle (good cat!), and noticed a frost, which made her day start with a thrill and a smile.  A rare start indeed, and she had a wonderful morning.  She was able to get into school without a panic attack for the first time since September.

By this time, Little Man had been awake and playing for some time – his conversations are one of the highlights of my morning as I listen to the different voices and characters he invents for his games.  Breakfast, feed, packed lunches all followed suit in the one part of my day that was not at all average in my world, but far more Normal.  I treasure these mornings because they are so rare.

Off we went to school in the van due to my timetable that morning: social services meeting at school at 9.30, followed by a paediatrician appointment for Little Man at 11.   Therapy for me was due to follow at 2, then school pick up and an optician appointment for Sweet Girl.  Really a very ordinary day.

Unsurprisingly, the social worker of a few months ago had not actually confirmed the appointment with anyone other than me… So we were left the two of us, me joined by our new social worker (well, family support worker… we have been downgraded due to our “stability”.  After three months on this new status, social workers are once more involved and I suspect we’re about to be upgraded again.  You just have to laugh!).  Since we had spoken at length only last week, it was decided that we should reschedule the appointment so as to involve the other people who help Darling Man and I look after our Offspring.  All good, but a colossal waste of time.

I headed home for a cup of tea.

Twenty minutes later, I headed off to pick Little Man up from school and to the hospital.  He’s not well.  He experiences daily headaches, he is losing weight and is extremely lethargic.  Recent blood tests came back normal, so we have a little quandary.  Into the mix comes a large dose of maternal instinct (which unfortunately has rarely failed to be accurate in the last 9 years or so) telling me that something is really quite wrong.  The bit I’m hating is that the “feel” of Tom, his touch, how his hand feels, the way his skin feels is like only one thing I’ve ever felt before – him at 9 weeks.  One week prior to his diagnosis of leukaemia.  Major PTSD episode.  I hold his hand and I’m transported to almost exactly 9 years ago.

So… doctor’s appointment.  She knows me well, and knows Tom well.  She suspects that the weight loss and “loose skin” are probably due to his growth hormone treatment… so she will talk to the professor and we will decide shortly whether or not we should continue with that.  In the meantime, don’t mess!!  He has some strange bony lumps on his elbows, most obviously the right one.  I’ve only noticed this in the last few months, and frankly, a new lump doesn’t inspire confidence.  Although the paediatrician doesn’t think it harbours anything bad (she’s an experienced oncologist and endocrinologist as well as general paediatrician… I trust her), we do an xray to have a look at the bone.

Little Man Tom has very limited rotation in his arms.  When accepting something that is handed to him, he contorts his entire body in order to be able to offer his palm.  While the radiologist was positioning his arm, he was in a good bit of pain and quietly asked me,

“Mummy, can we ask the doctors to fix my arms so they can turn properly?  Or will they always be like this?”


Xray done.  I await the results.

Next step is to do a CT scan of his head.  We are looking to rule out the possibility of “something” that might be taking up space in there.  Deep breath.  And MRI would be better in terms of radiation exposure, but would necessitate an anaesthetic as he could never stay still enough without one.  And we don’t do general anaesthetics on Tom without really good cause (not least because it means going up to Great Ormond Street Hospital and time and fuss… oh and generally he’s a bit risky).  So the consensus is let’s do a CT with sedation to get an idea of what’s going on.  If need be, we can then do a targeted MRI which will be much quicker and should be doable without a general.  While he’s sedated, we’ll take some more bloods to compare with the more recent ones, and make sure we ask for a blood film so the consultants look at it in more detail.

Phew… job done.  Until we have further information we’ll settle for a follow up appointment in three months, though the doctor and I will stay in touch by phone or email.

While waiting for the generator test at the hospital to be over so we could get the elbow xray done, we went to the hospital pharmacy where I hoped I would be able to pick up Sweet Girl’s medication.  As important as I know it is, I dropped the ball and forgot to order it in time.  Last Friday saw me make a desperate phone call to the paediatrician’s office, and luckily she was as good as her word and the meds were waiting for us.

In a little aside, I’d like to point out that in the UK, it is very rare for a child to see a paediatrician.  Babies and children see general practitioners (GPs) for all their standard medical care.  This is not the case in France, where GPs almost never see children.  Here, a paediatrician is a specialist consultant that sees children who have significant medical problems… they also tend to be specialised – in enuresis, oncology, endocrine issues, epilepsy, neurodevelopmental issues etc etc…  So all this talk of paediatricians gives a clue as to the oddness of my life!

Meds were picked up, xray was done and it was back in the car and off to school.  With just enough time to spare to get myself to the petrol station to pick up petrol, food and some money for therapy.  I was hoping to check in on Sweet Girl who was aiming for her second consecutive full day at school, but had to be content with the receptionist being unaware of any issues.  Not what I was hoping for, to be honest.  I am convinced that I am NOT an overprotective mother despite what some may think.  So when I need to know that my kid is ok, there is usually a good reason.


My last two therapy appointments had been unaccountably thwarted by children and traffic, and my burden of weird dreams and stress had reached bubbling point, so off I went!

Good talk, thank you!!!!

Miraculously I was back just in time for school pick up, to find two children happy to see me and very tired, but on the whole in surprisingly good shape.  Tom had not had the correct feeds (something else to chase up again – could we not have a different battle please?), but I was happy to see them come out today.

Back into the car and off to town for an optician appointment for Sweet Girl.

Back in August she had an eye test that showed a very mild short sightedness in her right eye.  After a remarkable meltdown as she felt she had in some way “failed”, or was at risk of death if not something worse, she settled down to her slightly blurry eye.  But she is hyper sensitive in general, so I wasn’t surprised when she started to speak more and more frequently about her blurry vision.  That said, I am very short sighted, as is all of my family.  We’d reached the point where a further test was warranted.

My girl is really lovely… just take it from me, she simply is!

One appointment later, she clearly needs glasses.  They have been picked (2 pairs for no money… thank you NHS!!!), and will be picked up within the week.

A tired Mummy decided that McDonalds was absolutely the right choice for dinner.

Home, bath, pudding, bed!

PS… Upon arriving home, my phone was blinking rabidly… I must take time tomorrow to phone the company that supplies me with Little Man’s growth hormone, call his nurse back to let her know what happened today, and call Eldest’s key worker about … something!!

And there we have it.  A fairly average day.  What does yours look like?

I’m sat here in my cosy living room at the end of a long and somewhat harrowing day.  The morning was dedicated to Sweet Girl as the “Behaviour Support” team were in school to observe her and try to put a plan in place to help her at school.  There’s not much to say just yet.  They’ll be back in six or seven weeks to see how their suggestions have worked.  The emotions, questions, doubts, hopes and fears surrounding this intervention need to stay in their box right now, to be revisited a little later on.

The unwrapping was a little tricky, but such fun, and sooooo yummy!

As soon as that meeting was over, I grabbed Little Man and Sweet Girl and we hopped on to a train, London bound.  We know the stations off by heart now, but they were kept busy to some extent by packed lunch.  Little Man did well today (he even had breakfast, for the first time in weeks) and was proud to say that he could tell Mr E that he had eaten “all that!!”.  I found a rather delicious miso soup and seaweed wrap at the Wasabi stall in the station and we set off on foot for the hospital since it was a beautiful day.

Feeding therapy.  Tube weaning.

Tom was assessed in December of last year, and we began our tube weaning odyssey in March.  Tube feeds were de-calorised and the amount of feed was reduced, all in the hope of improving Tom’s appetite.  At the same time, Tom has been encouraged to eat a greater variety of foods, in greater quantities.  I’m not sure how much he has understood, and he is certainly not really on board.  On the other hand, he has worked really hard to taste new foods, and now eats substantially more than he did – certainly enough to replace the calories we removed…

Tom in January 2012, liking his Belly Buttons which keep his stoma clean and infection free!


Psychologically, he does not want the tube to go away.  It’s so much a part of him that the idea of no button is really scary.  BUT… he does want to be rid of tube feeds, which he finds annoying, an inconvenience and which generally make him feel sick (so does oral food, but that’s a whole other matter).

Behaviourally, there’s no doubt that learning to eat when you are nine years old and have always been tube fed requires a major adjustment.  I think it also requires a maturity and a level of cognitive understanding that is more and more obviously beyond Little Man right now.

Physically, tube weaning requires a healthy body.  One that works as nature intended.  Tom’s difficulties with food have never been investigated.  This is the one area in which the label of Noonan Syndrome has held us back.  Because many children with this syndrome have feeding difficulties as infants, it was simply put down to that.  But very few (I think it’s about 10%) ever need tube feeding.  And very few continue to have significant problems past the age of two or three years.  It may well be “Noonan syndrome“, but actually, there is almost certainly a physiological reason for the severity of Tom’s problems.  My gut says some of the problem is developmental or neurological.  He never had a rooting reflex as a baby (the reflex that makes babies’ heads turn towards a breast and “root” for a nipple to drink), and never had any inclination to eat.  I also suspect that his body doesn’t process food properly.  In my experience, I can keep him healthy and growing (albeit very slowly) by pumping far more calories into him than his weight and height suggest he needs.  Clearly there are questions that need answering.


The feeding therapy team at Great Ormond Street are lovely.  They are not sending us away, and they are wonderfully supportive.  They simply cannot proceed with so many unexplained issues going on – not to mention his colour (very yellow, no sign of liver problems), daily headaches, continuing exhaustion and weight loss despite “enough” food going in.  I have been encouraged to increase his tube feeds if I feel he is losing too much weight, they keep telling me to trust my instinct.

looking gaunt in comparison to January…

My instinct says – more feed!!!  It’s not helped by seeing the photo of Tom up above only 9 months ago… compared to this one taken a couple of weeks ago:

Not to mention the skinny legs which are covered in bruises rather more than normal.

Conclusion from the team:

We must suspend tube weaning.  It is absolutely appropriate that Tom be tube fed (I asked for clarification – doctors have been telling me for years that he shouldn’t be).  I am to increase his feeds as I feel necessary.  He will almost certainly require tube feeding for at least a couple of years based on the information we have today.



So…  two year sentence?

Or two year reprieve?

Goodness, I don’t know… both I think.  Despite my fears and doubts, I have been wholehearted in my efforts to help Little Man eat better and rely less on the tube.  I come away from today knowing that there is no short term future without it… which feels a little like a sentence.

And yet, tube weaning is hard work.  Physically and emotionally it is utterly draining.  So the idea of taking a break is in some way a huge relief.  It may not be as long as two years before we try again, but what we have learned is that we cannot do this without Tom’s full cooperation.  Which means his complete understanding of the aim and process.  Two years is optimistic, I think, to achieve those requirements.

I’m going to feed nutrients into www.nutritiondata.com once again, and figure out what I can do best to get him better.  I need my little boy back, not the skeleton that’s upstairs in bed, bruised and exhausted.  I let him get too thin… but I needed the professionals to see what I saw two months ago.

Sentence.  And Reprieve.

Learn To Love Food

Food Fun For Feeding Therapy and Picky Eaters

Stories with Sam

Stories about our son Sam, his disability, our family and our lives. Sam is 8, loves stories and has cerebral palsy. I am learning to be his ally.

Yvonne Newbold

Doing whatever it takes to make life easier for special needs families and the staff who work with them

Charlie Turtles Shares

Live What You Love With Ease And Fun

Eli Glasman

Site of author Eli Glasman

The Adventures of Fanny P.

...because life is just one big adventure...

Fusteratedreader's Blog

Reading one word at a time

Cross Stitch Bobobitch Mononitch

Translation: One Bohemian Bourgeois Gal with an Urge to Cross Stitch

Ramblings of a KJ

Grant me the serenity to accept the things I can not change; the courage to change the things I can and the wisdom to know the difference.

Cheaper by the Dozen and Get One Free

untangling this thing we call life...

Gluten Free Gobsmacked

...sharing everyday recipes from my gluten free kitchen with a side of life.

Chewy Pickle

Artsy fartsy and completely gluten free!

Durga's Toolbox

embracing special needs parenthood with courage, compassion and joy

Handmade Christmas Project

Spreading holiday cheer one craft at a time

Gold Can Stay

"The golden moments in the stream of life rush past us, and we see nothing but sand; the angels come to visit us, and we only know them when they are gone"--George Eliot


thoughts at teatime...

%d bloggers like this: