At Least Once A Year…

Blake - February 2022

Carmen's Myhre story.

My beautiful daughter Sophia was born in 2008. I didn’t have the best pregnancy particularly in the later stages, nor did I have the best pre natal care. I knew something was not quite right having experienced a healthy pregnancy previously with my son, Jake. I admitted myself to hospital around 7 months as I was so exhausted, I could hardly walk and I was extremely swollen all over but my biggest concern was that I could feel little movement from Sophia. An ultrasound was performed and I was reassured everything was perfectly fine and they sent me away. At 36 weeks I returned to the hospital as my swelling had progressed to an unmanageable state. I was suffering from pre eclampsia and was immediately prescribed blood pressure tablets but at 37 weeks I began experiencing labour pains, they came on quickly and strong so I re-admitted myself to the hospital. The midwife checked me over and told me to make myself comfortable as it would be hours before I was ready. She left me alone. Ten minutes later I went to the bathroom, my waters didn’t just break-they exploded! Sophia shot out that fast, the umbilical cord snapped and she was born straight onto the floor weighing only 3lb 10! She was quickly scooped up and taken to special care. The reason for the excessive amniotic fluid was a condition called polyhydraminos and is common with genetic disorders. Sophia struggled to feed and was persistently vomiting. She was growing weaker before our eyes and did not even have the strength to cry. Eventually on day four an X-Ray was carried out and it was discovered that she had a pyloric web, it was blocking the opening of her stomach in to her small intestine. This was life threatening and she underwent surgery at just 5 days old. The relief when she pulled through and fought like a little warrior was immeasurable. I would not allow myself to imagine anything different. Sophia spent a further 6 weeks in hospital and I was delighted when I got her home to finally have her all to myself. Being my second child I quickly observed that Sophia was very delayed in hitting all her milestones. I asked for the Health Visitor to refer us to the local hospitals Child Development Centre who further referred me on to the Genetics Department at Manchester Children’s Hospital. Sophia was described as having Dysmoprhic features which I thought was extremely rude! To me she was perfect. But essentially, they didn’t know what was wrong. When Sophia was 2 years old I was extremely fortunate to meet Sofia Douzgou, an amazing geneticist who put Sophia into Deciphering Developmental Disorders Study. Two years later Sophia was diagnosed with Myrhe syndrome. In 2012 very little was known about this disorder. It was the first case my geneticist had ever come across and she did not know of any other people with the same condition in the UK but l was happy to get answers finally. Initially I was told Sophia would be short in stature and may get stiff joints. Ignorance was bliss. Now I had a diagnosis, so I googled and googled looking for other families. I eventually contacted a family in America who heartbreakingly had just very recently lost their beautiful daughter at the age of 8. This was a massive shock to me as research literature was not indicating Myrhe as life threatening. I contacted every single rare disease charity group and organisation on Facebook asking if they had heard of Myrhe Syndrome or knew any other families but to no avail. In 2015, the National Instiitute for Health wrote a story about Sophia and Myrhe Syndrome. They sen t me a link for a Facebook Myrhe Syndrome group, which I immediately joined. Initially it was an extremely small group but here I found Stacey, Nigel and their daughter Imogen, finally another family from the UK. We soon met up together. The first Myrhe Syndrome family meet up to ever happen! Our group has grown so much and so has the number of people attending the family meet ups. The understanding, love and support we gain from each other is priceless. Even though we all have the most amazing supportive families only another Myrhe parent can understand the roller coaster feelings that we have to experience when a child is lost from our support group, our chid is diagnosed with yet another medical problem or their existing medical condition has progressed. But despite all this we do nothing but laugh and forget all our worries when we get together. Sophia has moderate learning disabilities, severe hearing loss, short stature, high blood pressure, narrowing of the left ventricle of the heart, and is developing aortic stenosis. In 2018 Sophia was also diagnosed with yet another rare condition, Hypthalamic Harmatoma, a benign brain tumour that causes gelastic seizures. But despite all of this, Sophia is incredibly brave at all her appointments and investigations. She does not let this define her and is the life and soul of the party. Sophia lights up the room when she walks in it and people cannot help but smile when she’s around. Her personality always shines through. She is incredibly confident and an amazing performer and belongs on stage. I'm incredibly proud that she’s my daughter and I wouldn’t change her for the world, but my greatest wish would be to stop the pain and suffering caused by Myhre Syndrome.

On Wednesday the 16th January 2019, Daisy, our tiny 3-year-old daughter, was diagnosed with an ultra-rare genetic disorder called Myhre Syndrome. This is our story… Our journey, of Daisy’s diagnosis of Myhre Syndrome and beyond… Daisy was born on the 12th March 2015, her due date, at 7lb 9 oz she was the smallest of my four babies. My pregnancy with Daisy was a bit of a surprise, and when I confirmed it with a test, on Rose’s first birthday, I believed I was roughly 9 weeks. However, when we attended our dating scan, according to Daisy’s measurements there was a four-week difference in our due dates, at the time I didn’t really think anything of it and believed that I had simply miscalculated our dates. In hindsight, I believe that my dates were actually correct and that Daisy was actually born 4 weeks late, explaining her ‘average weight’. I am a big believer of ‘Mother’s know best’ and from the moment she was born my instinct always told me, there was something different about Daisy. Her petite features didn’t bear much resemblance to her siblings. She didn’t have their curly red hair, hers was straight. She didn’t have the same full lips, hers were thin with a small mouth opening. She didn’t have the little button nose, she definitely had her Dads nose right from birth and her eyes were tiny and deep set. Her head was also tiny, which I later learn, was only 33cm and should have been flagged and, more importantly, closely monitored. She didn’t even have the chunky, elastic band legs that all my other children had been born with, Daisy was the total opposite! Everything that was so familiar in Daisy’s siblings, was extremely unfamiliar with Daisy. I don’t make a habit of comparing my children, but Daisy’s differences were always so striking, that they couldn’t be ignored. The differences became more and more apparent as Daisy got older. She was a quiet, content baby, that slept through the night from being a week old, I had to wake and stimulate her for 3 hourly feeds. She didn’t smile or laugh much, she always stared, staring at strangers in the supermarket to an uncomfortable level, even when she was tiny she would never break that stare first, the strangers did! Daisy also didn’t hit her developmental milestones, as fast as my other children had. She never crawled, wouldn’t even try. As a baby she would never put her weight on her legs, usually babies get to that stage where they just want to stand up and bounce on your lap, not Daisy. Her legs would just flop, and she’d dangle. When she eventually started walking, around 20 months, she literally just got up and walked, like she’d been walking forever. I was baffled! The moment when your baby takes their first steps and you hold your breath, waiting for them to lose their balance and crash to the floor, never came with Daisy, she just walked around in a circle for ages. I kept mentioning my concerns to my health visitor. They were not necessarily ‘bad’, some of the things I raised were actually ‘amazing traits’ that Daisy had. For example, as a toddler Daisy didn’t seem to possess, the emotion of anger, she never had a ‘typical toddler tantrum’, she also never suffered with ‘separation anxiety’ I could literally leave her with anybody or anywhere and she wouldn’t care! On one hand this behaviour was perfect, as you all know, when a toddler goes through separation anxiety, just leaving the house to nip to the shop can turn into an extremely stressful situation for both parent and child. Not with Daisy! On the other hand because she didn’t have this important instinct, it meant she would literally just wander off with anyone if allowed to. I always got the same response whenever I voiced my concerns, “Those are GREAT qualities to have!” That may be so, but I knew this wasn’t normal! Every time I raised something I felt fobbed off, with the reply, “You shouldn’t compare your children; Every child is different!” I explained that I was aware of this, but that the guides all have the same timescales for children to be hitting each milestone and that if they are not, then you should speak with your child’s health visitor. Still, my health visitor just wasn’t listening to me. I approached Daisy’s health visitor again when my concerns regarding the struggles I was having weaning Daisy and how she was gagging and choking a lot. Once she choked and went floppy 3 times, resulting in her Dad actually having to save her life! During this episode when Daisy needed me the most, I was useless, panicking and unable to do anything. It was a good job Ian was at home, otherwise I could have been telling a very different story but still my health visitor was not helpful, her advice was: that we should stop feeding her lumpy food, rather than referring us to have Daisy checked out. This turned me into a nervous wreck whenever I fed Daisy. Daisy also didn’t start to talk until she was nearly 3, a huge milestone but along with talking came a quite bad stammer. So off I went again to the health visitor with yet another concern about Daisy. At last she had no choice, Daisy had to be referred to Speech & Language Therapy. Soon all of my concerns would eventually be listened to, and Daisy would get her diagnosis, but not before a fight to get her differences to be taken seriously by not only the health visitor but the GP and other professionals When we attended our first appointment, I repeated all my concerns to the speech therapist, she sat and listened as I sobbed, through every single one. She sat listening, taking notes and comforting me then referred Daisy to a Paediatrician. She also advised that, I put in a complaint against the health visitor, which I did, although nothing came of it. I left that appointment grateful that someone was finally listening to me. Daisy was put through many assessments over the next couple of months. When the multi-disciplinary assessment team had their last meeting they all concluded that Daisy had some sort of communication disorder. The Speech & Language Therapist, however, disagreed strongly. She spoke with the lead paediatrician and begged with her to send for Daisy to come in for an appointment, but specifically to request she attended with her siblings. When we attended the appointment, the paediatrician instantly noticed Daisy was different to her siblings and she was keen to refer us to genetics for further testing. As a family we agreed to having bloods taken for genetic testing, we would do anything to help us pinpoint what it was that was so different about Daisy. At our first appointment, the geneticist noticed every little thing that was different in Daisy: her distinct facial features, her short height, her square shaped body frame, her curved pinkies, creases in the back of her thighs. She explained that she wanted to enter Daisy into a study that had just started. The study involved taking pictures of Daisy’s unique facial features, then these pictures would be uploaded into a computer programme and using facial recognition technology which could point them in the direction of which gene to test. I was quite sceptical about, facial recognition technology being able to diagnose a genetic condition, but I’ve always been one that’ll give things a go, that person, that’ll give a trainee, the benefit of the doubt. In fact, I’ve had a trainee in the room, every time I’ve given birth. My first question was how long we should expect to wait, for a result? She expected to have a result for us within 4 months’ time so we left feeling quite positive that we were finally getting somewhere! The wait, was long and certainly not easy, in fact the next couple of months were horrendous. A month after our appointment at Genetics, I was getting Daisy ready for bed and when I changed her nappy I was horrified to find it was full of bright red blood. Obviously I panicke, Daisy appeared to be experiencing her first period at the tender age of 3 years old!! I called NHS 111, I was asked some, mind-boggling questions such as. “Is the amount of blood in the nappy, enough to cause you any concern?” WHAT? Was this woman actually, in the right line of work, or had I rung the wrong number? I explained slowly, if this was a pea sized amount of blood or a gallon of blood, I would be equally as concerned, as there should be no amount of blood in my 3-year-old daughter’s nappy! “Would you like her to see a doctor tonight then? Or contact your GP for a routine appointment?” YES I would like her to see a Doctor tonight! Even if its too much trouble for you, I’ll storm into A&E anyway. I was given an appointment within the hour. Daisy and I attended the emergency walk-in centre, despite me being completely aware of the potnetial implications. This could go one of two ways: either they could understand and listen to the truth I was about to tell them, or they could not believe me and think the worst. In this very cruel world we live in unfortunately, I felt I should be prepared for the latter. We were sent straight to A&E, only to be treated like we were abusing her! The doctors pplaed Good Cop Bad Cop and didn’t seem interested in checking hormone levels, as I had more or less demanded and definitely not interested in the fact, that she was undergoing genetic testing. Instead, she was prodded and poked by various doctors, who were all in agreement that Daisy’s examinations were not pointing to any evidence of trauma. She had various samples taken but before any of the results came back two uniformed officers had arrived alongside two social workers and two undercover police officers and we were sent to the Sexual Abuse & Rape Clinic (SARC) where Daisy had to endure a full, evidenced based forensic examination. I felt a wave of emotions: angry, hurt and embarrassed but most of all I was scared. Not for me but for my tiny baby girl, having to go through a full body examination. From the tips of toes to the top of her head she was having every mark and graze marked as forensic evidence. For what?! I felt so bad because she was so small and didn’t, still doesn’t, have the understanding to know what was going on. Obviosuly I knew age hadn’t been abused, I was 100% adamant this was something to do with hormones. I was fuming! Every test, sample and examination came back negative so eventually they let us leave. No explanation why, no apologies given. Not even a follow up appointment made. I started to dread nappy changes, I feared it all happening again. It did, exactly 28 days later, Daisy was bleeding again. I rang the Health Visitor again, after not being able to get an appointment with our GP. I think in my head, I was giving her another opportunity to do the right thing, especially after my complaint. Instead, she did the complete opposite, her advice was “I’d just leave it and take Daisy to A&E if the bleeding gets any heavier.” My subsequent complaint lost her the job she’s shouldn’t have been doing in the first place. Eventually I was on track to get Daisy the hormone testing I’d asked for originally. We were referred to Endocrinology. We received a genetics appointment in the post just short of four months since we’d been seen by Daisy’s geneticist. I was hopeful, I was scared, I was excited in a weird kind of way. We just wanted answers. On 16th January 2019, we nervously made our way to the aappointmen. We sat down, and the geneticist started with, “Well, your suspicions are correct, there is something different about Daisy. Daisy is an ultra-rare kind of different. She has a genetic disorder called Myhre Syndrome”. She continued with some very vague information about how Daisy would always be quite short in height, she told me Daisy would need annual check-ups with a couple of departments such as cardiology and respiratory. She mentioned that hearing loss is associated with Myhre, and had referred her to audiology and also an optometrist, to do a full sight examination. She then admitted, she didn’t know much about the syndrome. She also explained that all Daisy’s future treatments would need to be carried out in the least invasive way possible, because excessive scarring from trauma or sometimes even spontaneously, is the key side effect of Myhre Syndrome. At first, I felt relief. We had an answer. Then I started googling. Then I felt fear, I felt sick and then scared, and then I found the Myhre Syndrome Family through Facebook and I didn’t feel so alone. On the 17th January, the day after Daisy’s diagnosis of Myhre Syndrome, she was at another appointment as an inpatient for a growth hormone stimulation blood test. I was feeling overwhelmed. I mentioned that Daisy had just been diagnosed with Myhre Syndrome and everyone just looked at me blankly, nobody had heard of it. That day receive the best advice I could have been given, a nurse put her hand on my shoulder and said to me “Now you’re a rare disease Mummy, be prepared to fight, you shouldn’t have to, but you will! Be prepared to learn, learn like you’re studying a degree in medicine, and get organised, you WILL become your child’s best advocate, you will become a Myhre Syndrome expert!” She was absolutely right, and her words have stuck with me ever since. Over the next few weeks, I was on the most awful, horrendous emotional rollercoaster ever! I wanted off, but I had no control! As a family we’ve learned to take each day and appointment as they come, learning everything we can along the way. The hardest part of our journey so far as parents, has been struggling to envision what Daisy’s future may hold and what medical issues we may run into. Whilst trying to educate doctors, when I only knew the basics myself was difficult, but I do know and I’m determined, that raising awareness of Myhre Syndrome is the key to getting research started, and for my daughter’s sake, I will carry on learning everything there is to know about Myhre Syndrome. I will share Daisy’s Medical information over and over, even if it doesn’t help for now that’s ok. I will carry on sharing, even if a family could benefit from her information a hundred years in the future, at least I’ll know we helped someone else! And so, our journey continues...

Imogen is known to most, as a miracle baby. It took us nearly 5 years to conceive with her and after years of fertility medication, failed pregnancies, and many tests we finally had a positive- I couldn’t believe it, we were pregnant!!! I still still remember seeing her little heartbeat flicker on the screen at our six-week scan, falling in love with her immediately. It was a feeling like no other, we were finally starting our family. The first few weeks of pregnancy went amazingly, I had no morning sickness, no cravings and was glowing. At my 20-week scan, I was told by the doctor at our hospital that Imogen had a twisted spine, we were petrified and didn’t know what was happening with our little princess. We were referred to a specialist hospital straight away. I had further scans at 24 and 26 weeks and at both we were told that her spine was completely normal, and the radiographer was shocked I was even referred to them. We were warned at 28 weeks that Imogen would be premature, and to make sure I have a bag packed and was prepared so we did just this everything was ready for our little premature baby arrive. Imogen however had different plans. August 2011, she arrived, in style after 3 long days of labour, by emergency c-section 9 DAYS LATE weighing 6lb 8oz. She was beautiful; I did think she had a sticky eye though as one was wide open, and one was shut. When we questioned it, they said her left eye, (the open eye) may have been caught from her being stuck, brow presentation or from where they tried to turn her. As a result, that first night our tiny baby girl had to wear an eye patch to protect her eye. The following day, Imogen was seen by an eye specialist who said Imogen had a facial palsy from the traumatic birth and it would correct itself by the time she reaches 6 months old. This was the start of our journey. Many medical professionals came to see us in the hospital and made notes of all the things that weren’t atypical of a newborn baby. She had webbed toes, small lips, her little finger bent in slightly and she had jaundice. Every appointment following Imogen’s birth, it was as if the doctors just pinpointed more and more concerns, worries and differences with our beautiful Imogen. Imogen failed her newborn hearing test multiple times, she failed to thrive and needed high calorie milk and supplements to help with weight gain. She stored and choked on food all the time so was referred to a feeding specialist and they contemplated surgery for a feeding peg. Imogen was a tiny toddler, she looked like a little doll. Against the odds Imogen hit all her mile stones before her peers, she sat unsupported at 5 months, crawled at 7 months, and walked at 12 months. She had the best personality, she was always happy, full of life and brought us so much joy. It wasn’t until Imogen was 18 months old when things started to get more serious, more appointments and specialists were seeing Imogen now, she was under physio for her stiffness in her joints, speech therapist for her feeding and then got pneumonia. She was hospitalised on a ventilator and feeding tubes. It was the most terrifying time. Imogen was in hospital for days, had many X-rays of her lungs and an MRI to check for brain damage. Once we allowed home, we had a follow up appointment with the paediatrician. At this appointment, the told us that a sonographer had looked back through Imogen’s X-rays on her lungs and had noticed Imogen’s spine was curved. She had hemi vertebra and butterfly vertebrae, our daughter had scoliosis. This alongside her heart murmur, her failure the thrive, her small stature, hearing loss and stiff joints they decided that Imogen should be seen at the genetics clinic in Oxford. Where we were seen, and they took swabs. At first the tested for Agille syndrome, a type of liver disease which was a negative. So, they advised us to go into a trail to test all her genes. The week before Valentine’s day when Imogen was nearly 2 and a half years old, we had a call to book us in to see the geneticist, we thought this appointment was to have the next set of swabs done. So, on the 14th February 2014, I took Imogen up the hospital on my own, as to us this was a just a swab appointment. I walked in the consultation room and was faced with 4 people. I knew it was something wasn’t right because Imogen’s geneticist was accompanied by a second geneticist, as well as a paediatrician and a counsellor. The team explained that when the test for Alagille syndrome came back negative, they had done more research into Imogen’s features and had tested for another syndrome. This syndrome was called Myhre Syndrome and the test came back positive. When I found out that we finally had a diagnosis for Imogen, I broke down in tears of relief. The geneticist explained the syndrome, stating that it was extremely rare and that Imogen was the youngest person ever to be diagnosed with it and was one of 33 people in the world? We always new Imogen was one in a million. As the syndrome is so rare, the geneticists were very vague about Myhre they themselves had to research the syndrome before our discussion. They could only tell us about the few articles they had googled themselves online. The geneticist handed me some documents she had printed from the internet and offered us counselling. Arriving home and googling Myhre our hearts broke into pieces. This disease was progressive with short life expectancy. There was no information online and no one we could talk about this, who would fully understand. So, we decided to be proactive and make awareness for Myhre. We set up a website and from this we had contact from a lady in the US whose daughter had recently been diagnosed. From this contact we set up the first international Facebook group. For a short while it was just us and one other family, sharing our experiences. Now we have over 230 members worldwide. Since Imogen’s diagnoses in 2014, she had had multiple surgeries, including a tonsillectomy, grommets in and out and a major spinal operation for her scoliosis which will be revised in 2022. At present there is no urgency for Imogen’s heart surgery, however the cardiologist has warned that this could be in Imogen’s future. Imogen is very tolerant of her accessories, she has hearing aids, glasses, leg splints and soon to be spinal brace. Imogen spends a few weeks of each year in plaster to give her ankle muscles a good stretch. Imogen is currently under 27 specialists and we coordinate all her care across multiple NHS trusts, who don’t talk to each other. Each time we get a new referral it’s a case of going back to the beginning with Imogen’s medical history and reliving it all again, so they fully understand the syndrome and Imogen. Since Imogen was diagnosed, we now have 19 families in the UK with Myhre Syndrome. We have always been proactive in raising awareness, making videos, and participating in interviews sharing our experiences and making Myhre known. We have spent the last 18 months setting up the first UK and Europe Charity with Trustees and Board members and are very proud to be part of such a wonderful Myhre community.

When I discovered I was pregnant for a third time I sort of went on auto pilot and presumed naively that I was fully prepared with what to expect from this latest edition (how wrong could I be?). At 35 I was considered a geriatric Mother to be and so had a few extra checks as I'd had my share of miscarriages also. When I was 7 months pregnant they informed me that the baby was small but they put it down to my emotional state following the long stressful loss of my Mother from Alzheimers and no other explanation was offered. In the early hours of 1st April I went into labour which was very rapid as anyone who's had more than two children will tell you. However as the baby's knee was presenting itself they had no other option than to perform an episiotomy, obviously the joke was much on me at this point as it was still prior to 12.00pm! When a baby girl was delivered she wasn't breathing and the oxygen tap by my bedside was found to be faulty so mass panic ensued and my blue baby girl was whisked off to the special baby unit where they were able to maintain and stabilise her breathing meaning we were apart as I was unable to move and needed attention. It was 24hrs before we were reunited and put onto a ward but as it was now Good Friday the staffing levels were low and it took until late before my baby girl was given her checks to go home. Her big sister and big brother had come to collect us both and we all waited for what seemed like eternity until the doctor eventually came and then still took his time before he announced to us 'We need to keep this one'. My heart sank, I knew she was tiny at 6lb4oz compared to her siblings at 8lb2oz and 8lb10oz respectively but she looked sweet enough, just a bit undernourished I guess. Anyway her family went home and left us for the night. Next morning (Saturday) I was waiting for the senior paediatric doctor on call to see her. Every minute felt like hours. Her Dad came back and still we waited. Just when we were about to lose our cool the doctor appeared. He checked our little girl over and then explained that there was a heart murmur which needed further investigation. Well panic averted in our eyes we thought, her baby brother has a heart murmur, no problem there, it's never bothered him. Doctor said no, she needs to go to Birmingham Children's Hospital straight away and so she was blue lighted off asap. Her Dad and I followed in stunned silence, unable to process the events. We had had to make childcare arrangements as we had no idea how long we would be and heard the disappointment and concerns in those who'd arranged to come round the Bank Holiday weekend to meet our new baby. Everyone was worried, the unknown was scary. Upon arriving at those hospital doors her tiny incubator unit was dashed up the ramps as she was taken off to Ward 11. We met her there where she was diagnosed fairly quickly as having Tetralogy of Fallot, I had no chair and felt the ground open up as they told me she would need open heart surgery. This was to be the start of our journey, a journey we could never ever in our wildest imagination could have predicted would lead us to today. We were admitted to the ward straight away, another bracelet, another hospital and a different bed. We weren't going to be going home for some time yet. Baby and I shared a room with one other and she was monitored closely. I'd intended to feed her myself as I did the others, so I started to express because they needed to know how much milk she was taking. Drinking from a bottle for her was labouring and they put that down to her heart but by Sunday it had become apparent that all the milk baby had taken was sitting in her gut. Now we needed the Gastroenterologists. Their investigations resulted in the knowledge that she had a duodenum stenosis and intestinal malrotation and the Surgeon called Mr Donnell broke the news that my baby girl was booked in for life saving surgery for the next morning Monday 5th. Her condition meant that should the gut twist slightly it would cause an obstruction which could kill her instantly, suddenly the heart was the lesser of the emergencies. My world was in free fall, I had no control, no clear thought process and very little understanding of the medical world I was being catapulted into, however I was going to have to learn and quickly! The nurses insisted I now needed to name my baby girl, I was under pressure, she couldn't carry on being 'baby' so I called her 'Phoebe' after the tv series 'Goodnight Sweetheart', not after 'Friends' as many people presumed. I held back with her middle name which was to be my Mom's nickname 'Jo' because I couldn't bear the thought of losing my Mom and then potentially my daughter who I named after her in the same few months. Thankfully the operation was a success and my little girl was only on ITU for 24hrs and then back to the ward. She had to be fed by a nasal gastric tube, something I had to learn to do myself and monitor her medication and the amount of now highly calorific milk she was prescribed in order to gain weight quicker. We stayed in hospital for over 3 weeks and then had to return to be checked over regularly and ensure her oxygen levels were still satisfactory, making sure that should she have blue lips we would rush her in. We were 8 weeks in and her levels had dropped significantly, they told us that she needed a temporary heart operation as they couldn't perform the full corrective procedure until she was about 12mths old. We were admitted to Ward 11 again where this time she had a BT shunt operation, this would ensure a better blood flow to her heart in the short term. So my poor little girl was under the knife again, my heart broke some more, she now had another scar, this time across her back under her left shoulder blade. I feared for the constant pain she may be in but the operation had gone well and did what it was supposed to do at least. Again we were allowed home after they were happy she was doing well and comfortable that I was able to continue with the constant care she required. No sleep was possible as the worry over her health was continuous, she was needing regular feeds over 24hrs and often had concerns for her breathing or choking which seemed to happen too often. We still had to have regular trips to the hospital and preparation for her open heart surgery was in place, we were then told it would be May 2000 so we had her Christened in the March. At 13mths I had an adorable pretty little girl who people thought was 'doll like' she smiled and was able to sit up and babbled, she had been through the most awful first year of life but was a fighter and had come back strong, then on the morning of 5th May I had to hand her over to the anaesthetist and I put my baby girls life in the hands of the Cardiac Surgeon Mr William Brawn. The waiting was intense, I paced and I fretted, the time went over Mr Brawn's estimated window and I knew things weren't going well, they came to me and told me that they had had to use the blood transfusion option that I had previously agreed and I prayed to God he would keep her safe. Eventually he came into the waiting room and sat down next to me and my sisters, I began to shake, he described at length the procedure and what they had done, taking his time to put it into words that I would be able to comprehend, but the long and the short of it was he had done his best but it had not gone well, 'not as we would have liked' he said but he'd done everything within his capability, also they hadn't been able to close the rib cage as her heart was unable to tolerate that just now, so it would have to remain open until they could try again at another time, but whilst it was open it meant there was a risk of infection from just anything as it was impossible to protect such an open wound and then his closing line was 'now it's up to Phoebe' I didn't think I was strong, but looking back I must have been, no-one wants to hear those words, we had all got to know and loved this precious little girl, her brother and sister had welcomed her into their home and laughed and played with her, they spoiled her and treated her like the special little human being she was, how would I be able to tell them she wouldn't be coming home, they would never understand just as I couldn't. I was unable to see the children for nearly two weeks as I knew they would see the sadness and fear in my eyes. Phoebe's rib cage remained open for 6 days after two more attempts it was successfully closed but the price was that all of her stats were going crazy, a cocktail of infusions were administered, I was told that one substance was in a yellow tube because upon being exposed to daylight it would turn into cyanide. Her tiny little body was beginning to shut down, she had to have kidney dialysis and I was beginning to think she was slipping from me. They told me to prepare for the worst. Then to add to all this upon needing to change a maintenance line that was in her foot the nurse discovered that the canular had leaked from inside, meaning potassium had burned her causing her a severe injury and again potential infection. This needed daily care and I added it to my routine, I would wash her with cotton wool, put drops in her eyes to keep them moist, I used a lollipop sponge to swab her mouth and I cut her nails and tidied her hair. I talked to all the nurses and orderlies, I made a strong bond with a student doctor who had a special interest in Phoebe and he became our Guardian Angel. I made sure she could hear my voice and I stayed beside her for as many hours as I could, only leaving for 4 hours to sleep as no-one was allowed to sleep by beds in the ICU. I was determined not to abandon her, she needed to know she was loved and needed and I had to keep vigil and ensure that all the staff knew of any changeover information they may have missed. Phoebe wasn't ready to give up either. They continued to tweak and balance all her meds until she eventually stabilised. She stayed on ICU for over 3 weeks paralized and sedated, they made an attempt to bring her round but failed, I was devastated. She just wasn't quite ready. Then a few days later they tried again, this time, she started to wake, they told me not to have too high expectations, for she had been asleep for a very long time and they didn't know exactly what the infusions may have done to her, they thought she may have been severely brain damaged at worst or disabled in some way was always a possibility. She was awake but unable to smile, she couldn't cry and she was unable to hold up her head, her body was uncoordinated and very weak, we had regressed by months but she was alive! At the back of her head her hair had died from the roots causing a bald spot and of course worse was the burn wound she had endured from the canular. Phoebe had always been a fighter, but this had been her worst battle by far.