SOPHIE'S STORY
In The Begining
Our daughter, Sophie, arrived on her due date, the 21st June 2007. Despite concerns late in pregnancy over reduced foetal movements which were eventually put down to the medication for hypertension I was taking making baby Sophie sleepy, the pregnancy was uncomplicated and Sophie appeared healthy, scoring 8/10 and 9/10 on her Apgar scores. We took her home the following day, the proudest parents in the world.
The weeks passed and we adjusted to our new family member and enjoyed getting to know Sophie and watching her develop. She began to smile and support her head and bear weight on her legs. Like all new parents we loved seeing her doing these new things and couldn’t wait to see what she would do next!
The First Sign of Trouble
At around 3 months of age, we became concerned that Sophie may have picked up a chest infection as her chest felt ‘bubbly’ at times and she wasn’t feeding very well. We took her to the GP who listened to her chest and said it sounded clear leaving me feeling like a neurotic first-time mother. A week later Sophie’s symptoms didn’t seem to be improving and she had developed a high-pitched squeaking noise when breathing (stridor) which really worried us. We decided to take her back to the GP and this time all 3 of us went. We saw a different GP who suspected Sophie had a virus which would clear up in a week. After a week Sophie was no better and was still struggling to feed; sucking away at a bottle for ages but unable to take any milk. We knew something wasn’t quite right, we even got as far as taking Sophie to A&E, wanting to get her checked over but as we stood outside, she looked so well and was even smiling so we went home again feeling silly. Still Sophie didn’t improve and was taking virtually no milk by this point, so we went to see a third GP who although still suspected a virus, was more concerned and after consulting the local hospital sent us straight to A&E to have Sophie checked over.
From the minute we walked into A&E Sophie seemed to deteriorate. Her stridor became louder, so much so that the doctors in A&E were concerned about her breathing and took us to a recovery room (where life-saving equipment is kept) as a precaution. Sophie was wired up to a machine that measures the level of oxygen in her blood. Naturally we were feeling very anxious and concerned, still hoping and believing that she had a chest infection and that we’d be home by the afternoon. Sophie was examined by 2 paediatricians who felt something wasn’t right, one described her as ‘a lot more docile than I’d like her to be’ and a chest x-ray revealed a ‘fuzzy area’ on one lung. It was decided that Sophie would stay in overnight for monitoring.
The next few days were a blur of tears and tiredness. We remember events but we’re not sure what order they happened in. We remember our poor baby girl having all sorts of medical intervention and tests to try to make her better. Mostly we remember seeing Sophie looking very weak and hardly moving with lots of wires attached to her. We remember feeling very scared. The doctors said that because she didn’t feed they needed to put a tube into her tummy to get milk into her stomach (NG Tube). They also had to put an intravenous line into her hand to get fluid and antibiotics into her body quickly as she was dehydrated. Neil was very brave and held Sophie through every procedure. I couldn’t watch her in distress, it was too painful. We remember at one point Sophie needed another intravenous line put in so Neil took her to the treatment room. When they got back to the cubicle the line had been put into Sophie’s head and she had a plastic pot taped to her head to protect the line. This was all too much to bear and upset us both immensely.
A few days later a different paediatrician who specialised in Neurology (a word that would come back to haunt us) was doing the ward rounds and asked if we thought Sophie was ‘floppy’. Of course, we didn’t know what on earth she meant by this and it sounded like a negative label so we automatically said ‘no!’ The paediatrician also talked about referring us to a neurologist in a larger hospital. We didn’t even know what a neurologist was! She left leaving us both feeling very unsettled. Neil immediately began googling ‘floppy baby’ which told us that a ‘floppy’ baby is usually a sign of an underlying serious illness. I think it started to dwell on us then that something more than a chest infection was wrong with Sophie and we just prayed it wasn’t anything too serious.
First Stay in St Georges, London
After four days in our local hospital Frimley Park, we were transferred to St Georges Hospital in Tooting, London for Sophie to be seen by the Neurology team there. This sounded like the best idea and we thought we’d get there and the doctors would tell us what was wrong with our little girl and be able to fix her. Neil went home to pack our things and I went with Sophie in the ambulance, on a blue light up to London. I remember feeling completely overwhelmed at the size of St Georges and by the time we got to the ward where we would be staying I felt like I’d never be able to find my way out again! For The first night in St Georges we both stayed squashed onto a single hospital bed next to Sophie in her cot, neither of us wanting to leave her.
By now Sophie’s squeak (stridor) was extremely loud, one of the doctors even commented on how he could hear her from the office opposite the ward across the corridor. Sophie had an ENT investigation where a camera was passed through her nose and down her throat. The test showed that Sophie had vocal cord paralysis which was causing her stridor.
For the following two months Sophie underwent a whole array of tests including many blood tests, an MRI of her brain, a lumbar puncture, scans of her heart and kidneys, DNA tests, one EMG at St Georges which tested messages between Sophie’s nerves and her muscles and another at Great Ormand Street. All appeared normal apart from the EMG at Great Ormand Street which showed Sophie had bulbar muscle weakness which had affected her swallow and hence her inability to feed.
During one test at St Georges we wheeled Sophie to the other side of the hospital for a scan and were given her hospital notes to take down with us. After the scan we made our way back to the ward with Sophie and her notes. Of course, we were inquisitive (what parent wouldn’t be?) about her notes so we looked. Instantly we wish we hadn’t as the potential seriousness of Sophie’s illness hit us. The paediatrician from our local hospital mentioned ‘Fazio Londe’ disease in her referral to the neurologists; furthermore Fazio Londe disease was circled with the words ‘Real Possibility’ scribbled next to it. We had previously read on the internet that ‘Fazio Londe Disease’ is an extremely rare relentless progressive disease in children for which there is no cure. It was from that moment onwards that our world really started to fall apart and the harsh reality of what we were facing hit us in the face like a sledge hammer.
Over the next couple of weeks all kinds of diseases that Sophie could possibly have were discussed (after some probing of the neurologists by Neil who has an inquisitive nature) including Myasthenic Syndrome, Pompe Disease, Riley Day Syndrome, Brainstem encephalitis, Guillain Barre, Motor Neurone Disease, Pre-Natal Insult and Spinal Muscular Atrophy’ which is one of the most common genetic diseases in babies. However, this test, like all of the others was negative.
During the second month at St Georges Sophie developed a nasty cold and it was during this time that we noticed she had a high heart rate (tachycardia) and was sweating excessively. We mentioned this to one of the doctors who checked her blood pressure and discovered it to be extremely high. The doctors weren’t sure what was causing this and so again Sophie went through a barrage of tests and was started on medication, with the help of Evelina Children’s Hospital, to help control it. At this point Sophie was extremely floppy and was started on oxygen because her saturation levels started to drop. She also required regular suctioning as she was finding it increasingly difficult to clear secretions from her throat due to her lack of swallow.
Initial Theories of a Diagnosis
Sophie was keeping the Neurology team guessing. After two months the Neurologists admitted they were not sure what was wrong and felt they had carried out all of the tests possible and it was a matter of time waiting for results and to see how Sophie progressed. One of the Neurologists told us in a matter of fact sort of way they were looking for an explanation and not a cure and that hindsight plays a big part in establishing a diagnosis - this didn't go down too well!
One of Sophie’s urine tests came back with high VMA and Noradrenaline levels. This we were told indicated that she could have a ‘Neuroblastoma’ or ‘Pheocromocytoma’, which are very rare childhood cancers of the Autonomic Nervous System. The Neurology team told us that the cancer could be causing the high blood pressure but not her hypotonia or Bulbar Palsy and that Sophie may have this in addition to her other health problems. The idea that Sophie may have a rare cancer in addition to another rare problem seemed totally unbelievable to us.
In addtion to cancer, their working theory at the time was an Autoimmune polyneuropathy such as ‘Guillain Barre’, which is caused as a result of a virus (or immunisations) when the body’s immune system turns on itself and attacks the nerves. Another theory was Brain Stem Encephalitis. We felt positive about these theories as they were something she could potentially recover from.
Back to Frimley Park
After two months in St Georges we were sent back to our local hospital, Frimley Park where the doctors said we should be positive; if Sophie’s illness was something that the doctors at St Georges and Great Ormand Street hadn’t seen before, then chances are it was not a rare genetic disease and was something that she could possibly recover from. We decided Sophie’s 4 and 5 month immunisations should be delayed just in case the 3 month ones she’d already had were related to her illness. Because of this Sophie had to be kept away from other children to minimize the risk of her picking something up. At this point Sophie still required regular suctioning throughout the day and oxygen when she slept and so we spent a lonely month in a Frimley Park hospital cubicle waiting for oxygen and a suction machine to become available before we could take Sophie home.
After three months in hospital we came home. It was lovely to finally take Sophie home although she was a very different baby to the one we left with. Sophie was now very floppy, she had an NG tube which we fed her through, was on medications for hypertension and reflux, required regular suctioning (especially when she was sick which was quite often) and was on a small amount of oxygen when asleep. We moved her cot into our bedroom so we could keep a close eye on her at night. She started to have physiotherapy at home to try and improve her muscle tone and Speech and Language therapy to develop her oral skills. Despite her problems, Sophie was still developing mentally and was always very bright and alert. We tried to take Sophie for a walk everyday (such freedom after so many months in hospital!) and she enjoyed playing with toys, having cuddles and watching the world go by from her spot on the sofa.
After a few weeks at home we began to see a pattern emerging. For a few days at a time Sophie would be very sick and also get very cold and clammy, then for the next few days there would be no sickness and Sophie would naturally be happier. We began to call these her bad and good phases and began to dread her bad phases.
After 6 weeks at home we had an appointment at Great Ormond Street Hospital for a repeat EMG on Sophie’s bulbar muscles to see if they had improved or weakened. It was a long car journey for Sophie but she coped well and the EMG showed improvement in her bulbar muscles. However, the Consultant conducting the EMG remarked that Sophie seemed much more ‘floppy’ than the last time he’d seen her so something clearly wasn’t right and whatever it was, it must be complicated.
A Turn for The Worse
Life took a turn for the worse for little Sophie three days before Christmas. The 22nd December 2007 is a date that will stay with us forever. The day started with Sophie’s NG tube breaking when we tried to give her 6am medicines. We tried to tape it but the medicines still leaked out so we had no choice but to take her to hospital to have a new tube passed. We also noticed that Sophie was crying and cold when she woke up. We put this down to her being in a ‘bad phase’ and the trip to London the day before had tired her out. We took her to hospital where Neil took Sophie to have her new tube passed while I waited outside. After what seemed a long time, Neil rushed past me carrying Sophie and not saying a word which I thought was strange. The next thing I knew, Sophie was rushed into a cubicle, the crash light was switched on, lots of people and machinery appeared and time seemed to slow down. There was doctors and nurses everywhere, we couldn’t bear to watch so we left the room, Neil told me Sophie had stopped breathing while having the new NG tube passed.
We waited for what seemed like hours with no news, both of us climbing the walls. One of the nurses then came and told us that Sophie had a respiratory arrest and that her heart had also slowed right down and she would need to be intubated (have a tube put down her throat to assist her with breathing). Hours later we were allowed to see Sophie but it was truly heartbreaking. She looked so tiny on the bed and covered in so many wires. She had a tube going into her mouth which looked very uncomfortable. She had been anaesthetised so as not to remember or feel any pain and so looked like she was fast asleep. She had a blue woollen hat on to keep her head warm. All we wanted was to pick her up and give her a cuddle but at the same time we were afraid to touch her for fear of upsetting the wires and machinery. We were told that Sophie needed to be transferred back to St Georges to the Paediatric Intensive Care Unit (PICU) as they specialise in children who have been intubated.
Later that evening, I went with Sophie on another blue light ambulance run to St Georges Hospital while Neil went home and packed. Last time we’d done this we’d been filled with hope but this time it was fear we were feeling. On arriving at PICU Sophie had a chest x-ray which revealed a ‘cloudy area’ where she’d aspirated when she’d had the respiratory arrest. For this, Sophie was treated with intravenous antibiotics and doctors decided to keep her intubated for a couple of days for her chest to recover before they would extubate (pull her breathing tube out) and we could go home, hopefully in time for Christmas day. We hoped this would be the case but had been here before a few months earlier and we both had doubts it would be that simple. Saying that, niether of us was prepared for how complicated things would become either.
On Christmas Eve Sophie was weaned off anesthetic and extubated. The extubation failed, it was devastating to watch Sophie struggling to breathe on her own and the tube went back in 2 hours later. It isn’t enough to say we were disappointed. However, the doctors said it isn’t uncommon for children to fail the first extubation and after all, Sophie had been through a lot. On Christmas Day, the doctors left Sophie to recover from the previous days traumatic events, and completely withdrew anesthetic as it relaxes the muscles, which therefore could affect her chances of coming off the ventilator. However, on Boxing Day the second extubation failed and was just as traumatic for Sophie and for us. Failing two extubations was termed a ‘significant event’ by the doctors and we were all starting to question why Sophie seemed unable to cope off the ventilator and breath adequately on her own.
A couple of days later Sophie had a full body MRI scan to check for abnormalities that might be causing her respiratory failure and also for any masses that may be present. Her brain and spine looked completely normal and there was no sign of any masses or neuroblastoma.
Decisions, Decisions
It was becoming more and more evident that Sophie’s low muscle tone was affecting her respiratory muscles so it was decided with the Neurology team, that Sophie should have a muscle biopsy; a procedure in which a piece of muscle tissue is removed and examined under a microscope for abnormalities. We were informed that the results of the muscle biopsy may take up to three months to come back and the question on everybody’s minds was 'how can we leave Sophie intubated for that length of time?' Especially now that she was fully conscious and so uncomfortable with the tube. We were advised by the consultants that the only option was for Sophie to have a tracheostomy. This was not a decision we took lightly but without having any sort of diagnosis for Sophie and not knowing whether her disease was treatable, what choice did we have?
A week passed and Sophie went to theatre to have a muscle biopsy and a few days later again for a tracheostomy. These were emotional days, it was so hard seeing her wheeled down to theatre. When she came back with the tracheostomy, it took us both a while to adjust to seeing her with it. We had a difficult time accepting it – we felt as though something had been taken away from her and the hard fact that a machine was keeping her alive didn’t feel right. However, if we wanted to move forward and eventually go home with Sophie we had to accept and adapt.
Over the next few weeks we had a steep learning curve, we learned to suction, change, clean the tracheostomy site and change the tapes daily, eventually we also learned to change her tracheostomy for a new one which was very scary at first. It’s amazing what you will learn to do for your baby if it means helping her to live and getting her out of hospital.
After Sophie had her tracheostomy the plan was to wean her from the ventilator so that she would only require ventilation during the night which would make life much easier for all of us during the day. Over the next couple of weeks Sophie was weaned off the ventilator by 15 minutes each day. She coped well with the weaning programme and she eventually reached 12 hours off the ventilator and we even started to get Sophie out for walks. It all seemed to be going very well.
At about this time there was also discussions regarding Sophie having a gastrostomy (a tube directly into her tummy) instead of her current NG tube. This meant another operation. However, like the tracheostomy, we always put Sophie’s comfort first and we knew how uncomfortable she found NG tubes so we agreed to the operation. It was a straightforward procedure and it was so nice to see Sophie’s lovely little face free of tape and tube when she returned from theatre! The gastrostomy not only made Sophie feel more comfortable, it also helped with her reflux which meant she wasn’t sick as often after feeds.
Sophie’s blood pressure seemed to be increasing and so doctors decided to try her on some different medications. At one point Sophie was on four different medications. However, only two medications seemed to have any effect on her blood pressure so the others were stopped.
Enough is Enough
We had been in St Georges PICU for two months when the muscle biopsy results finally returned. The Neurologists told us that Sophie’s muscle biopsy investigations had shown severe abnormalities and they contained lots of very tiny vacuoles, this was something they hadn’t seen before. At around the same time another report came back stating that Sophie was deficient in all five of the mitochondrial complexes. This meant that Sophie was suffering from a disorder that prevented her body from converting food and oxygen into energy. Furthermore, they went on to say that she was suffering from a very severe form of the disorder, possibly one that had never been seen before, they told us there is no cure and her prognosis is extremely poor. As if this wasn't enough, we were also told that if the results of the muscle biopsy had been available before Sophie had her tracheostomy, the hospital would never have performed the operation, Sophie would have been extubated and nature would have taken its course, innevitably ending with Sophie passing away. This news broke our hearts and all we wanted to do was take Sophie home for as long as she had left, the last place we wanted to be was in an intensive care unit.
The thought ‘will we ever get Sophie home’ was stuck in the back of our minds throughout Sophie’s stay in PICU but even more so after receiving the news of Sophie’s prognosis. One of the doctors had told us a while back that we could expect to be in intensive care for anything up to ten months waiting for our local PCT to organise a care package. This thought now filled us with dread, the last thing we wanted was for Sophie to spend her last weeks or months in there when all we wanted to do was take her home. I expressed these thoughts to a dear friend who we met in PICU while her son was being treated there at the same time as Sophie. This friend just happened to be good friends with a lady high up the ranks in a certain children’s Hospice near Guildford which is very local to our home and literally five minutes from Neil’s work - CHASE. Our friend asked what we would like to do and I replied that I wanted to take Sophie to CHASE, rather than spend what time she had left in a hospital. Before we could blink our dear friend was on the phone to CHASE expressing our wishes.
CHASE agreed that it was a good idea and proceeded to talk with our Community Key Worker who was responsible for overseeing our transition from hospital to home. Luckily for us our Key Worker also thought this was a fantastic idea because Sophie’s support workers could be trained while we were at CHASE. All of a sudden a future of ten months in St Georges PICU turned into three weeks.
Before leaving St Georges PICU for CHASE we witnessed some more bad news. Sophie’s ventilation weaning programme was going well and she had been coping off the ventilator for twelve hours a day. However, over the course of a couple of days she seemed to struggle and an x-ray revealed a collapsed lung, we were devastated. Sophie was given lots of physiotherapy to try and shift the secretions that had caused her lung to collapse, but a week later her x-ray didn’t look any better. Sophie’s consultant suggested a bronchoscopy to clear and reinflate her lungs, he said if the lung wasn't reinflated we would be in serious trouble, naturally we agreed - even if it was only a short term measure to get her home. Sophie had the bronchoscopy and it made a huge difference to her breathing, she was able to come off oxygen completely. The decision was made to leave Sophie fully ventilated 24 hours a day to minimise the risk of this happening again.
CHASE and Then Home
After ten stressful weeks in PICU we left for CHASE. It was such an enormous relief to be escaping hospital. The doctors and nurses gave us a good send off, Sophie had been 'their little girl' for the previous two months and we'd become part of the furniture. We had visited CHASE a week or so earlier and instantly knew that Sophie would be happy there - and we were right. Sophie enjoyed all the attention she received and we found it to be a relaxing and friendly place with lots of stimulation for Sophie and fantastic staff to help us every step of the way. Sophie experienced so much during her time there and we have many lovely memories; we were able to take her swimming, for trips out and she even met Mickey and Minnie mouse! On one occassion farm animals visited CHASE so the children could meet and experience them. Unfortunately Sophie's chest was bad on this particular day and she couldn't leave her room. Not wanting her to miss out, the CHASE staff bought some of the animals into Sophie's room for her to see! This is how the staff at CHASE are, devoted to helping the children they support and nothing is too much trouble, it really is a very special place.
The support workers were trained at CHASE and the day soon arrived to take Sophie home. After four months of living in PICU and then CHASE (not to mention the three months we'd spent in St Georges previously) we were finally going home which although lovely, was also very scary. All of a sudden our front door closed and it was just us caring for Sophie without any doctors or nurses for backup, but we adapted very quickly.
I am now Sophie’s full-time carer and Neil is back at work. We get lots of help from Domicillary Care which includes a support worker for 6 nights a week and help during the day. CHASE still support us through their community team and reguarly ‘babysit’ allowing us a precious night out every couple of weeks. I won’t say it isn’t hard because it’s very hard work and emotionally draining at times. We have good days and bad days but most importantly we are home with Sophie.
Sophie is very floppy, her muscles are extremely weak and she cannot swallow. She has very high blood pressure, suffers from reflux, temperature regulation and sweating issues. But despite her problems she has just turned one and remains a bright, alert and sociable little girl who develops in her own way each week. Best of all she loves interacting with people and is never happier than when ‘chatting’ (squeaking) to people who ‘chat’ back! She also loves playing with toys especially helium balloons which are light and she loves cuddles.
Final Thoughts
We don’t know how long Sophie will be in our lives for but we always remember that 'where there is life there is hope' and 'the only thing worse than false hope is no hope'. Neil always recites the quote ‘that which does not kill me makes me stronger’ and it helps him through the difficult times. We will never give up hope of seeing a miracle happen and for as long as Sophie is here we will love her as much as we can and make everyday count.
Sophie is a very special little girl and we are so grateful to be able to spend this time with her, we love her dearly and we really are the proudest parents in the world.
“Do not look back and grieve over the past for it is gone,
And do not be troubled by the future, for it has not yet come,
Live in the present and make it so beautiful that it will be worth remembering” |
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| Ida Scott Taylor |
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