29th April 2011

Today is the Royal Wedding of William and Kate Middleton.

Chiara and I have been watching it since it started this morning.  We are excited as today we could be allowed a wee weekend pass home.  It would be great to get home with her for a couple of day and all be a family again. 

Both myself and Chiara are all dressed up and ready to go.  Richard and the boys arrive and we all patiently wait on the Doctors coming round on the ward round so we can see if we have been allowed to go home for weekend.

Eventually the Doctor arrives, examines Chiara over and tells us its okay to go home for the weekend.  Yippee its smiles all round as we prepare to go home.  At the end of the conversation with the Doctor he happens to drop in that clinical chemistry have reported a finding of some sort of storage disorder in Chiara's urine test that was sent away 2 weeks ago.  Immediately I start to break out in a cold sweat and feel sick, the colour I know is slowly draining from my face. I look over at Richard who knows by the look of me that it isnt good news.  Instantly I say out loud "but they are life limiting" and very bluntly the Doctor agrees..  I start asking questions, but he doesnt have anything confirmed so he doesnt know which storage disorder it is........ why oh why then do you bloody well tell us only half and then leave it especially after you have just told us to go home for the weekend and have a good time.

He leaves the room and immediately both Richard and I start to cry, I glance over at the kids who had still been in the room and heard everything, I could see the hurt in Chiara's brothers faces.  I cant believe this has happened.  We leave the hospital and head for home, none of us knowing what to say to each other.  All I know is I feel I had a promise of a life with a gorgeous wee girl and now I have been robbed of that promise.

I arrive home to my brother and sister in law and from that moment on the whole weekend is just a blur.  I think I spent the whole weekend on a couch or in a corner not knowing what to do.  I remember thinking if I distance myself from Chiara then maybe when she goes it wont hurt as much.  But how could I do that to her, she needed me, no matter what lay ahead I had to try and get strength from somewhere to deal with this devastating trauma in our life.

28th April 2011

28th April 2011

Well another morning of exhaustion.  Chiara has been up the whole night with a high temperature and diarrhoea.  The nurse came in the middle of the night and took a nappy to send away for a sample. 

O M G what now

After a full day of about 30 nappy changes, Chiara is confirmed to have rotavirus.

We have been put in isolation so now she is not allowed out of the cubicle.

27th April 20111

Chiara and I are both exhausted this morning, she has been up most of the night, she did not tolerate the sleep study so we eventually had to give up trying.  Not sure what is wrong with her as she has continued to be quite grumpy and out of sorts.

26th April 2011

Hospital have decided to yet another sleep study on Chiara.

Again I try and settle her down but she doesn't seem quite herself tonight.  I am hoping she will sleep so that the sleep study gets an accurate recording.

25th April 2011

Mum came through today to see us.  We headed over to Kelvingrove Park and met with my Lynsey,Scott and Paige.  We had a nice afternoon and it was great to see everyone again.

24th April 2011

Today I headed back home again on a day pass to watch the boys football tournament.

Another great day having had freedom from the hospital.

23rd April 2011

As Iam now allowed about and about I headed into Glasgow today with Chiara for a wee afternoon out.

22nd April 2011

Well today we have a day pass for home.  Ye Ha.

Boys have a footi tournament this weekend so it will be great to get back and see them for the day.

I have packed up and ready to go.  It feels as if I am heading away for a week with the equipment I need to take away for Chiara.  Its all worth it though just to get out for the day.


We came back later in the afternoon after a lovely day out.

Back to the reality of hospital walls again.

14th April 2011

Chiara is doing well today.  I feel more settled that we are getting somewhere although I know she is going through further tests.

A different Doctor attended today and examined her but didnt really give too much away with what he found.  He asked me a lot of questions and I couldnt work out if that was a good sign or a bad one.

He requested bloods taken from Chiara, urine tests and multiple x-rays.

I took Chiara for her x-ray today and I inquisitively looked at the x-ray form to see what he was testing for.  "lysosomal storage disorders" was what was written down.  I quickly entered this into the internet and then wished I hadn't. There were loads of different storage disorders but none of them seemed to have postive outlooks.

13th April 2011

Ward round this morning reveals Chiara's sleep study is still abnormal although not as bad as what it was before she had the NPA inserted.  It appears to be helping slightly but she still requires additional help.  For what reason no one knew the answer to this yet.

It was suggested that Chiara is put on a BIPAP machine at night (this is a non invasive ventilator).

Later on in afternoon the technicians arrive with the machine and mask for Chiara to wear.  They try it out on her for her afternoon nap. I stand and watch as they put this huge mask over her face and switch on a machine which gives pressure up her NPA and therefore should help with her breathing.  At first she struggles as seems a little frightened but before long she has gripped the tube and falling over to sleep.  She tolerates the mask extremely well for a baby and a short study performed shows the numbers have improved greatly. 

I have another long chat with the Respiratory Consultant who says that although all these new appliances put in place appear to be working well for Chiara he feels there is still something underlying and has asked one of the Metabolic Doctors to come examine her. 

Chiara has also now had her milk changed to completely dairy free rather than just Lactose free.  Her vomiting has improved greatly.

12th April 2011

Today Chiara was seen by a Respiratory Consultant who informs me that Chiara's sleep study was awful. It had been reported as showing desaturation levels of around 230 times per hour all night.  Therefore something requires to be done urgently.

We have a long chat regarding Chiara's medical history and her presentation of "floppiness".  He doesn't have a definitive answer for this but in his opinion it is the fact that her body has been getting starved of oxygen while she sleeps that could be contributing to her low weight gain and floppy muscles.  He explains to me that you need acceptable levels of Oxygen and CO2 in your body while you sleep to aid in gaining weight and therefore gaining strength.

She is being transferred today to another Ward to deal with her respiratory issues and she can be kept a closer eye on. 

Later on this evening the ENT team that know Chiara's history appear and explain to us that after conversations with the Respiratory Team they have decided to try and give Chiara a small tube in her nose which essentially would be an artificial airway.  This is called a Nasal Pharangeal Airway (NPA).  They tell us they think she may have a bit of collapse somewhere which is causing the apnoeic episodes due to the floppiness of her body. 

I leave the ward and return about half an hour later.  Chiara has a tiny tube inserted in one nostril and taped across either side of her face.  Instantly she is breathing easier, less noisey and appears less distressed. 

By the look on the Doctors faces this was an experiment I dont think they were expecting to work but it did.  Yet again Chiara amazed the Doctors.

Another sleep study was arranged for tonight .

I lay and watched the monitor, her oxygen levels were still slightly abnormal and so was her CO2.  I was shocked as watching her she looked so much more relaxed and comfortable. 
The on call Doctor was called in to look at Chiara and a blood test was arranged as her CO2 had went too high. The blood test showed her body was coping with the abnormal ranges. The doctor explained that although the NPA appeared to be making some improvement it looked as though she required a little additional help from a CPAP machine.

I settled back down to sleep.

11th April 2011

Today Chiara is exhausted as she has been deprived of sleep all night.  I too am exhausted as had no sleep.  Nurses look after Chiara for a couple of hours and give me a room to go have a couple hours of sleep.  My head was aching so much I had taken so many tablets I ended up vomiting.

The registrar appears early afternoon and offers to carry out a sleep study when Chiara has recovered from the infection she has.  Also an MLB will be done.

After spending a night watching Chiara struggle for breath and having no sleep I refuse to accept what the  registrar is offering.  I made my feelings very clear, that I was NOT accepting this as I can see Chiara deteriorating in front of my eyes day by day and no one is doing anything.  I need something done today. 

Just as the registrar leaves and Orthopaedic Registrar walks in (extremely bad timing as I am in no mood now to concentrate on anything else).  The Doctor tells me that the MRI scan carried out when she was in ITU shows Chiara has a scoliosis and requires specialist follow up by a Spine Consultant. This referral will be made.  I enquire about the possibility of their being a fracture.  There was no fracture to be seen on scan so my fear of feeling that she had been somehow neglected had ended.

Shortly after another registrar appears and agrees to have a sleep study (this is where they attached a special probe to Chiara's ear and it monitors her oxygen levels and her CO2 levels in her body) carried out on Chiara tonight. 

I now feel slightly relieved.  At least something is being done although no one is quite sure what is going on with Chiara yet.

I settle Chiara down for the night.

It is not even midnight yet and already Chiara's monitor has shown desaturation levels dropping on numerous occasions and frequently.  On some occasions they have been dropping as low as 50.

Chiara still remains on Oxygen which has now been increased to try and help her maintain acceptable oxygen levels.






I settle Chiara down for the night.

It is not even midnight yet and already Chiara has had numerous desaturation levels at frequent intervals,

10th April 2011

I arrived at the hospital this morning to find Chiara had had a comfortable night and slept well.  She remained still on oxygen but I was hopeful she would gradually be reduced off this. 
She remained well throughout the rest of the day.  Nothing much happened as it was the weekend.

I started to settle Chiara down for the night. 

Then everything changed, she went back to having severe apnoeic episodes (this is where she appeared to be stopping breathing for seconds) then waking her self up throwing her arms around and gasping for breath.  I called in Nurses who witnessed this with me and agreed there was again something not quite right.  To me she looked the same as the night when the retrival team took her away.  I went through the whole night with her gasping for breath.  They increased her Oxygen.  This made no difference.  Her apnoeic monitor that was attached never once alarmed as her body was still going through the movement of breathing only there was no breaths being taken 

Her nasal secretions had become worse than ever and she required suction almost constantly for this.

I decided at that time there was no way I was going through another day with her so uncomfortable.  Come morning I would start asking for more investigations and urgently.

9th April 2011

We arrived at the hospital this morning delighted to see Chiara looking fantastic in the High Dependency Unit.  They expected her to remain there over night but as she was making a remarkable recovery they were happy to transfer her up to Ward where she would be seen by appropriate medical staff to try and get an answer for Chiara's multiple problems.

We were happy to see her settled on the Ward and starting to look better.

Richard (Chiara's dad) stayed overnight at her bed side and I went back over to Ronald Mcdonald House where I spent the last night as tomorrow I would move into the Ward beside Chiara.

8th April 2011

Chiara remained very well overnight off the ventilator.

Not long after we arrived today the ITU Doctor said that she had managed to have a look at the MRI scan.  She was unsure what exactly the Neurologist was looking for but in her opinion Chiara had a fracture on her spine.  She couldn't be sure but she suggested this is what she saw.  She said also it appeared that Chiara had a scoliosis (which is curvature in the spine).  I immediately asked how she would have managed to have a fracture on her spine, the Doctor said she was unsure.  I started to think the Doctors were maybe thinking it was neglect or Chiara had come by this fracture by trauma.  The Doctor said Chiara would need to be followed up by an Orthopaedic Consultant and a Neurologist. She was also going to be seen in Genetics. 

Discussion took place again regarding Chiara's presentation, the doctors used the phrase, "she is an anomaly".

Later on tonight Chiara was transferred into HDU which is a great sign, as its one step closer to home.

7th April 2011

Chiara was taken away from us this morning at 9am for her MRI scan.  She lay still intubated and they put her off to sleep in front of us and then transferred her onto the MRI scanner trolley.  It was a long anxious wait for her to come back and even harder knowing we still had to go through waiting for her results.

Chiara returned a couple of hours later and was doing very well.
At 1.30pm the ITU doctors decided it was time to try her off the ventilator and extubate her.  We had been told to be prepared for the fact that Chiara might not manage to breathe for herself the first time they try and extubate as they are unsure if she has an obstruction somewhere which is causing her the breathing distress.  We left her bed side and waited for half an hour until the doctors told us we could return and that the extubation went well and she was now breathing alone.  She remained on oxygen but it was now a huge relief that she was off the ventilator given how  I felt when we were told only nights ago that she was been ventilated.

Hopefully tomorrow we will be given the results of her MRI.

For the first time in 3 days I was able to hold Chiara again in my arms.

6th April 2011

Another day in ITU for Chiara, she is still ventilated but looks extremely well.  She has opened her eyes and is trying to extubate herself from the ventilator.  I know the Doctors and Nurses are extremely anxious about this but to me it is wonderful.  A couple of days ago I thought I would never see her lift her arms again, to see her her try and pull out tubes is amazing.

Neurology attended today while I was alone with Chiara which was a bit upsetting as I could tell by the conversation taking place they were looking at Chiara's condition as being serious and it was not the kind of situation I wanted to be in myself.

While intubated Chiara carefully began to unwrap the Sats probe that was around her finger, and with her tiny fingers gently pulled it off and handed it one of the Neurologists.  I could tell instantly from her face that she was not expecting that.  She admittedly said that they all came down with an idea what was wrong with Chiara but have clearly been proved wrong by what she has just done.  Nevertheless Chiara appeared to have some problems with her muscles, joints, etc as she was extremely floppy.

I then began to ask question after question not knowing what I was looking to hear but I eventually asked the dreaded "could it be something life limiting", all I got was "well it could be serious, we don't know at this stage".  I needed to sit down, or be sick or something,its that horrible feeling when the bottom has just fallen out of your world. 

An MRI scan was to be arranged for the following day where they would scan her brain to check how it was functioning.

During all these conversations I also discovered that Chiara had Pneumonia.

Too much for one day, what will tomorrow hold.

It was agreed to keep Chiara intubated until after MRI.

5th April 2011

Today sitting by Chiara's bed just seems like a dream, or rather more a nightmare, it feels like its not really happening to me.

Today Chiara remains intubated and ventilated.  She looks peaceful and settled. 

We had discussions with the Doctors today who say she is mostly breathing for herself with only a little help from the ventilator so therefore she is not solely dependent on it for breathing.  I am taking this as being a good sign.

Chiara's presentation has given the Doctors cause for concern.

I have given my history of Chiara's short life and how she has not developed in the same way as her brothers did.  Admittedly now I cant deny she has some form of delay. 

ITU Doctors have decided to bring in Neurologists to investigate further.

4th April 2011

As Chiara's mummy I will take over her story .......

Today 4th April 2011

Chiara is still poorly today and even had a slight colour change in her face.  Richard (Chiara's dad) arrived home from work and we decided to take her to our local Hospital to be checked over.

We sat in Accident and Emergency for almost 2 hours , Chiara seemed absolutely fine.  We were seen by a nurse who recommended we had her seen at the Ward as her Oxygen levels appeared slightly low (these are usually around 96 or over)  at around 93.  She was taken to the ward where she fell asleep.  It was then everything just deteriorated.  She went into these apnoea spells she had been having at home although in the hospital she was attached to a Saturation Monitor which showed she was dipping in Oxygen frequently.  By around midnight she had blood tests done which showed her CO2 levels to be abnormally high.  We were advised at that time that we may want to have family members come to hospital.  It was at that moment I realised the severity of it all.  My brother and sister in law arrived and sat with us through the further investigations Chiara endured.  After several discussion with senior doctors it was agreed Chiara was to return to Yorkhill Hospital and the retrieval team had been sent for to come and collect her.  The team arrived at around 4am and she was transferred into an inflatable mattress on their trolley.  They explained to us that they would  try her on a CPAP machine while transferring her in the ambulance as she was in severe respiratory distress and was struggling to breathe on her own.  I felt sick, I could not believe this was happening, only a few hours ago she was happily sitting with us in A & E and now she was being taken from us on a stretcher that made her look even smaller than she was.  It was then I had the horrible feeling that my little Princess was slipping away from us.  Richard and I made the most unpleasant drive of our life through to the hospital behind the ambulance until we reached a point where the ambulance went out of our sight. 

We arrived at the hospital desperate to see Chiara, we were asked to wait in ITU waiting room.  It felt like forever, not knowing what we were about to be told.  The nurse came and led us through the ITU ward to the end where I saw the crash team, 2 Doctors, nurses and the Paramedics all standing round my wee girl.  Instantly I knew what he was about to say, it was what I dreaded.  Then he said, I am sorry but she is now no longer able to breathe for herself and I will have no option but to intubate and ventilate her.  I turned and ran out of the room. I feared that once on the ventilator she would never come off.  I was urged back into the ward to say my goodbye to her and would be brought back in once she was on the machine. 

Richard and I left.  I phoned my family and got them prepared for the worst should it happen. Within half an hour we were allowed back into see her her.  She looked more peaceful and she was not struggling for breath.  Richard and I took up residence by her bed and prayed she would pull through.  The next 24 hours seemed to be forever.

My Life

Let me tell you how the Doctors came about diagnosing me with MPS1.

The Story begins ....................................

On 20th July 2010 I was born by emergency section into a family of 2 brothers and a Mummy and Daddy.  I was perfectly formed and gorgeous.  A "little Princess" is what I would be known as.  Little did everyone know that from that day on our new little family life would never be the same again.

On day 2 of my life I was found to have failed my newborn hearing screening test.  Build up of fluid could be to blame is what my mummy was told and re-test was organised for 2 weeks.

I was extremely unsettled at home, cried most of the time and didn't sleep.  I was noticed by family and friends to be quite noisy at times when I breathed.  I also made a strange snorting sound from time to time.  Examination from Health Visitor revealed also that I have a very marked indent in my chest.  This can be quite common and no major concerns were voiced at this time.

Re-Test of newborn screening test showed it was "incomplete".  Mummy said she knew then that there was something just not right.  I was referred onto the Sensory Centre for further testing. 

As the weeks went by my feeding became a major issue with my mum, as in I sucking was difficult for me and I choked frequently on my milk.  My weight decreased and gradually I began sliding down my scale.  I became more unsettled, I cried almost constantly and never slept. 

It was weeks later that my parents were told I had some hearing loss but to what degree they still weren't sure and further tests were needed to confirm. 

My weight was proving great concern to medical staff, my snorting noise had become worse, my breathing now was extremely noisy.  In addition to this, I was what you could call "floppy", my head control was very poor.

In September I referred to hospital where it was thought I might have something called Retrognathia.  I was to be referred to more Health Professionals who would show my mummy how to feed me using different techniques and also different feeding bottles.  Mummy said she always doubted this was what was wrong with me as she always felt there was "something else". 

Despite new feeding techniques, I continued to lose weight.  I had now developed what they said was Reflux and vomiting had become a huge issue now. 

On the 1st October 2010 I was admitted to hospital again for more testing.

2 weeks later I returned to hospital where I then admitted for 2 days then transferred to Yorkhill Hospital.  I had now developed breathing problems while I slept, they called it sleep apnoea.


On arrival at Yorkhill I was seen by the ENT Team who diagnosed me with a condition called Laryngomalacia.  The following day I underwent surgery for this called Supraglottiplasty.  After about a week I was allowed home.  My mummy and daddy were given Resus training and I had an Apnoea monitor attached.  I left though with a cough, but this was thought to come from the surgery.

Within only a few days of being home I was readmitted to Yorkhill.  I was thought to have a virus and was observed in hospital for few days.  As symptoms did not resolve I was taken back to theatre for my 2nd Supraglottiplasty.  After this operation I did not recover as quickly.  I remained in ITU overnight.  My coughing became worse and it was thought now to be Reflux related.  A few nights later I went into respiratory distress.  Mummy said it was so frightening to watch me struggle for breath and then have doctors take me back to ITU.  Daddy was phoned at 4am to come through as the doctors did not know what the next few hours would bring.  After tests in ITU I was found to be positive for Whooping Cough. I was commenced on antibiotics and put into isolation.  After around 5 weeks in hospital I was allowed home.

Thing should have improved but didn't, my breathing became worse, my feeding extremely poor, failure to thrive, I was floppy all over, head control was poor, reflux was worse than ever.  It was around this time that my mummy and daddy had found the lump in my spine. 

I was referred back to hospital and it was then that we were told there could be a chance that I have a "syndrome", which one no one knew at that time.

I was diagnosed in this time as having hearing loss and I have hearing aids fitted.  I had a teacher for the deaf come to the house every week to help mummy and me understand what I could hear and what we could do to make like more easier for me having a hearing problem.

I failed to be able to sit up at around 7 months, I had no core stability.  Mummy says she knew deep down there was something seriously wrong with me but just didn't want to admit to it and as long as she didn't say anything out loud then maybe it really would be ok.

Around February time I developed a constant running nose, breathing was bad and I suppose you could say I was starting to deteriorate.    I attended Doctors and was given antibiotics but these failed to work and on 4th April 2011 I was admitted to Stirling Royal Infirmary where hours later I lay on a Ventilator fighting for my life......................................