Toby

Toby

Toby

Toby’s Story

Our son Toby was born premature in July 2007, he has a diagnosis of severe IUGR/ SGA, a clinical diagnosis of silver russell syndrome, and unilateral hip dysplasia. Here is his story.

Pregnancy

We were given a IUGR diagnosis at 23 weeks after a couple of scans that showed very slow growth – in particular his femur (representing his body length). We were warned it could be placental and/ or a chromosome abnormality causing this. We had in depth scans to check for abnormalities to try and work out what was going on. The placenta was insufficient but the obstetrician had the impression that this was not the only cause of the iugr. His fluid was normal, baby was happy and active, the size of bladder? Was fine. He said this did not go inline with typical placenta problems. We had blood tests for infection, cystic fibrosis testing and an amnio to look for major chromosome abnormalities. The testing came back normal.

Throughout we were advised that baby likely had a condition, but they didn’t know what this was. Baby was showing no abnormalities except poor growth, mild echogenic bowel and poor movement of hands – mostly in the clenched position. The placenta was more normal at a couple of scans and this caused more confusion as to why the growth was so poor.

At a couple of scans we we told that the baby wasn’t going to make it and at the remaining scans we were led to believe that if he made it out of snicu they had no idea what life he would lead. It really was a heartbreaking time and i really struggled to cope with the unknown. We were offered a late abortion up until his birth on medical ground but we could not make this decision, we still had an element of hope that he could have only slight difficulties. The impression was that an unknown condition was allowing baby to live on little blood blow and only take what he needed to grow.

“Toby was born weighing 680g, way below the 0.4 centile”

Birth

At 32.1 weeks after a scan showed reduced fluid, reduced movements, poor blood flow (reversed) and a ECG showed decelerations. I was booked into our local hospital for a c section later that day. However this was made into an emergency as i started to bleed heavily. The obstetrician put his appointments on hold and delivered our baby – i do believe he was curious as to how Toby would be as he seemed to be out of depths with Toby and the unknown.

Toby was born weighing 680g, way below the 0.4 centile. He was classed as asymmetrical iugr as his head was big in comparison to his tiny body. As explained to me this was simply to do with the body being very clever and protecting the head – head sparing. I imagine a lot of his weight was his head. Head was below the 0.4 centile but his tiny body was a long way off in comparison. His head was that of an average 27 weeker, his weight was a 24.5 weeker size and femur was an average 22.5 weeker size and was in proportion to his skeleton – his femur was 39mm 2 days before birth. His length was by far the most restricted. The femur was a lot further from the 0.4 centile than the top of the charts were from the very bottom. Toby had a tiny placenta and a thin cord matching his body size.
He was wrapped in bubble wrap to keep warm, his blood sugar’s were very low so was given sugar fluids and given caffeine to regulate his breathing. This was thought to reduce the risk of brain damage and cerebral palsy. He was ventilated for only 12 hours and then was breathing air. His hands had normal movement (a huge relief). At 1 day old he was put on cpap as he was using a lot of energy to breath and they wanted to preserve his energy. Toby had lost more weight within a day than they had anticipated, he weighed 610g – fluid was increased.

SNICU life, Testing and Genetics

At 7 days old Toby was started on thyroid meds as his was not producing enough at this time. At 10 days old he had presumed NEC (This is infection of the stomach) however blood cultures were negative. He had a lumbar puncture. They phoned us as we were on our way in as he was very sick. Terrifying. The day before he had his 1st feed of my milk, he was given back to back double antibiotics and thankfully avoided surgery as bowel stayed intact. Tpn was needed until he was 28 days old, because of this he then started to have pre-digested milk due to malabsorption so was given trial milks until they found one that he could absorb. His weight gain was a big concern to the doctors, finding the correct milk helped but calorie powder became essential. His length was not measured until 7 weeks of age (37cm -39 weeks gestation). it was obvious from photos how much he grew since birth. The early calorie powder input early on was very beneficial to Toby.

He had a full skeletal x-ray at 5.5 weeks as his presentation was different to other prem/ iugr babies and the worry had continued about an unknown condition. This was to rule out common forms of dwarfism and to check for irregularities. His bones were proportionate. A minor foot bone abnormality was picked up but was of no significance – certainly hasn’t affected long term.

Toby had scans on most areas of his body and he was healthy. He had regular scans on his head. No bleeds thankfully. I was warned they thought Toby had hydrocephalus on many occasions as his fontenaille was extremely wide and his head started to boss at around 5 weeks old. His head also remained alot bigger than his body length yet still just below centiles. I was told a shunt would likely be used to drain fluid. All scans came back normal. No fluid and ventricles in normal range so a shunt was thankfully not spoken about again but regular head scans continued to keep check.

Snicu asked genetics to visit at 7 weeks old due to Iugr, postnatal growth failure, frontal bossing, extremely wide fontonaile, malabsorption, reflux, non working thyroid. They noted relative macrocephaly – with the look of hydrocephalus, transpalmar crease, unusual palate, wide fontenaille but could point to no diagnosis so carried out a micro array – normal. Interestingly before genetics saw Toby his consultant wrote ??SIlver Russel in his papers. Looking back on pictures I can see why. Reading through notes years later it is remarkable how well he has developed – at one point the consultants contacted someone with regards to concerns he had a multi system disorder, mitochondrial disease.

On due date he weighed 1.6kg and was 38cm long, head 31.5cm.

Early Feeding, Physio and Reflux

A physiotherapist gave us exercises to do as his lower limbs were not moving as they should. We worried he would never walk.

Feeding was a big issue. He found it difficult to suck, had coordination difficulties, got tired easily, and took along time to feed a tiny amount. It was obvious he wasn’t going to learn to feed in snicu – the hospital simply do not have the time to feed babies that do not want to feed. From early on he was given a dummy to help him. He was never hungry. I couldn’t understand why my baby didn’t wake for feeds but the other prem babies did. Toby required mostly top ups by tube. In some ways having a baby in snicu helps to get the help they need – early calorie powder, learning different methods to feed a tricky baby, time to learn everything about the baby and the correct meds to go home with.

Toby suffered terribly with reflux and was often needing his sheets changed. The reflux he experienced so young was to continue.

Going home

Toby spent 11 weeks in snicu, 1 month intensive care, 1 month high dependency and 3 weeks trying to feed and grow. He had cpap for 39 days, incubator for 44 days, 2 blood transfusions, treated for jaundice twice and had lots of x-rays/ scans. He would projectile vomit and then desat so would often need extra oxygen. He came home on 24 hour oxygen – a low dose of 0.1. The reason behind this need was because of prolonged cpap – given to preserve his energy to allow growth. He came home with lots of meds and a feeding tube.

1 week after coming home Toby was admitted as he had bronchitis. He stayed for a week – 4/5 days of this with a oxygen box over his head. The RSV vaccination was given through the 1st winter to limit admissions.

I hated the nasal tube. With his oxygen and constantly blocked nose i felt the tube was restricting his breathing. I also failed to learn to pass it and needed to go to hospital for it to be put in. One day Toby pulled it out at around 4 months and i couldn’t get to the hospital. I decided i would work with him to keep it out. I fed him 2 hourly and helped him suck by moving the teat, made the whole abit bigger but very careful to allow the precise amount of milk to drip into his mouth, moving his mouth to keep him sucking and spent however long he needed. He really fed better when half asleep as he had oral aversion to it whilst awake and would cry or spit it out. He just wasn’t interested. Thankfully the maxijul calorie powder allowed for less milk to be consumed. At his next weigh in he actually gained a little and were given permission to leave out as long as he continued to gain. So very stressful and very much my purpose in life at that time was to feed Toby. Soon we made it 3 hourly and if he only managed abit i would make some more and give it sooner than usual. Had i waited for him to want to feed he would have gone hours. 

Toby needed a repeat head scan at just over 4 months. His head increased more than expected at 4 months – a repeat scan showed he had developed a little excess fluid outside of the brain but was not a concern, minor and very short lived so may have been the cause of the jump or may not have been. His length also had an increase and followed the same pattern as before – head much higher than weight and length so it was also presumed that it was mostly normal growth. At 5 months after some catch up with all measurements Toby head was nicely on the charts, with his body paralleling under the 0.4th centile. This would be where he would stay for the next 4 years and i guess where his measurements could have been had he not of had a tiny placenta with a tiny cord.

Reflux he suffered terribly with from early on. I would feed and then have to re-feed as he would projectile vomit and i had to make sure i held him longer, put him down slower to try and reduce the chance he would be sick. His cot was always raised at his head end. Gaviscon didn’t help. We tried omeprazole, ranitidine and domperidone. The winning combination for us was omeprazole and domperidone. He would still be sick but less often.
Toby started solids early due to his lack of interest in milk feeds. Although he gained ok he was very hard work and required a lot of input. I didn’t let on just how hard it was to feed him as i was frightened they would make him have a tube again – i was very panicky about this and developed a fear of Toby getting caught up in it. The feeds were very runny as he would easily gag and then be sick. i would tease it down with the spoon as he was distracted. All feeds contained his calorie powder with oil, butter, cheese or double cream. All food was given that had the highest fat content. I avoided veg and good foods to make sure he was gaining – he simply would not have eaten enough if i included veg and my goal was to increase his weight. He had vitamins to make up for this. I just hope i have caused no long term problems. At the time this was recommended to us, it did work, his bmi was fine. BMI however would have been very low had he not had the input and the tube likely would have remained.

Getting Older

Toby continued to feed regularly around the clock. At 9 months i tried no night feed but i found him trickier to feed in the morning and could not meet the amount the hospital wanted him to have so I started night feeding again.

He was a very sweaty baby, had rapid breathing quite often and was often hard to wake for feeds. I used to turn lights on, make lots of noise. I didn’t want him fully awake but alert enough to feed. I now believe he may have had low sugar’s – thankfully regular feeding helped if this was an issue. The calorie powder likely gave him help against low sugar as used for some children when Ill – this was not the intention of the powder but likely gave us an advantage.

Toby came off oxygen, thyroid meds and was able to have normal milk at 9 months and we were allowed into public places.

Feeding continued to be tricky, we continued with small frequent feeds and his weight continued to increase and not to tail off. He started to wake for a night feed as a young toddler. His added fats and calories continued in all foods as well as feeding wherever he was settled – laundry basket, highchair, with his toys etc. He was easily sick when crying, coughing and a couple of hours after food he would sometimes be sick. At 3.5 he suffered with silent reflux. Even at 11 Toby can still be sick in large volumes if he gets too anxious (not often) and if he has a coughing fit. His 2nd day of secondary didn’t go to plan as i had to explain the sickness from the day before was anxiety and not illness. The sheer volume made them understandably wary.

At 12 months (10 corrected) length was 64.4cm with a head c of just under 45cm. at 2.8 length was 82cm and head c was 48.5cm.

Toby crawled at 14 months and was signed off of physio at 19 months when he learned to wobble walk (yay). This was also when physio signed him off – i am very thankful for the support he received to help him reach these milestones at a good age.

Head shape continued to be a concern to me as his boss was very protrudent/ bossed or the medical words used to us was frontal bossing. Between 1 and 2 the bossing became more obvious – it came out further than the nose, as soon as he could grow a fringe he had one. I often noticed looks and became quite paranoid. Over the years the boss become less obvious and from age 9.5 it went from barely there to nearly gone – amazing how children can grow into their shaped head.

Toby became a big brother at 2.1. We named her Daisy-mae and she had very different birth stats – length on 75th, weight 25th and head between 2nd and 9th. She was very greedy, had no reflux and i was actually asked to diet her as she became very chubby. Daisy was very smart – a good talker, witty, creative and they soon played alongside each other – it was very much like having twins for a while. Toby’s development was very similar to Daisy once she got to around 18/ 24 months and have remained best friends.

At 2 he had an op for umbilical hernia and a bilateral orchiopexy for undescended testicles.

Growth Hormone

GH was started at 4.4 under the SGA UK license as it was unlikely he would get onto the centiles without help. He had all testing done to make sure nothing was compromising his growth and GHD was ruled out due to his growth pattern without the need of a stim test. Toby wasn’t growth hormone deficient but growth hormone insufficient as i understand it. He was just under the 0.4 centile. He looked so small in height and stature and i often had comments about him being at school. Within a month we noticed his appetite increase – this fitted in with school well as i was worried with how he would consume enough. Toby was able to walk further within a few months ( he used to tire easily and was often in a pushchair, physically he was so much healthier). Toby settled in nicely to taking the injection. He used emla cream to start, then ice and after about 6 months he had nothing to numb the area. At the age of 11.66 Toby is 145.3cm – amazing – just under the 50th i believe!, strangely enough Toby’s head is now lower on the chart than his length. We do not have a big headed family and his development is so good i’m not overly worried.

School, Speech and Physio

School was making Toby very tired and grouchy. This was probably to do with full time school and not snacking. Our endo was brilliant and gave us a letter to give to school highlighting that he needed to snack. He was a different child and able to cope better. He could snack from his snack box when he wanted. His height progressed onto the centiles. At around 5/6 school stopped offering snacks and on a couple of occasions we were told he was acting drunk. Again a letter was given and he was able to snack. Again he was less grumpy at the end of the day.

Toby struggled in school with concentration, processing info and memory so he had an IEP. He was very young in himself and i believe he was put into school too early. Thankfully over the years he is catching up as he is able to concentrate better. Speech issues from early on hampered his early education start. He was slow to start talking and once he could talk he struggled with pronunciation, he had very good understanding though. We learnt at 7 that he could not move his tongue side to side or up due to low tone of tongue. After daily exercises and a lot of work he can say all sounds and only cannot move tongue up now. He will still sometimes slip up with his speech if he’s hurrying or excitable but his pronunciation is great.
Toby wears glasses and did wear a patch on his left eye as his left was weak and would turn out, more so when tired or daydreaming. He no longer has a squint.

Toby has had problems with low tone/ mass especially in his legs and core. His limbs were tiny in mass. When starting school the teacher was so concerned with his physical development that he was referred to physio and had very intense physio at home and at school for a year. He was uncoordinated, struggled to sit up in class, couldn’t jump properly, lean out of his base of control and was a long way behind his peers. Toby has generalised hypermobility of joints and hyperextension at knees. He has been seen by physio on and off since and is currently now on long term physio of which we do at home with concentrated exercises/ stretches. His stomach muscles separated at 9, we used tape to encourage them in and it worked with the exercises he was set to do. He had to learn to use both sides of his body equally. Physio was quite concerned as physically he was really struggling, walking long distances would cause a lot of pain. Age 11 we now know that the most essential part to keeping him healthy and strong is to keep him very busy to keep his muscles working well. He needs more activity than the average child his age. Toby has very tight lower muscles, nowadays a lot of his physio revolves around stretching his muscles and developing his core, hip muscles. He is physically good at present and one of the quickest long distance runners in his year.

Hip Dysplasia and Scoliosis Concerns

At age 10.5 Toby had an xray to look into why his pelvis was tilted. The x-ray unfortunately showed that Toby has left side hip dysplasia. A shock as 1st to occur in our family. We were referred to orthopaedics and was initially told Toby needs his femur and pelvis operated on in the next 6 months. After an MRI it was decided that an operation will wait. His age makes it tricky as well as the degree of dysplasia. The proposed operation would not have done the complete job. With major surgery the child needs to be symptomatic. Toby is now symptomatic, a steroid injection has worked so surgery will be discussed soon – wait and allow the pelvis to mature or to operate. The femur is slightly unstable at this moment apparently so very nervous as to the next steps. The orthopaedic consultant also noted mild scoliosis, as did genetics. It is visually very subtle with the only thing being that his shoulders can be at slightly different heights. An x ray showed minor scoliosis and an MRI showed minor lumbar and mild thoracic scoliosis. Spinal team however said its very mild and thinks it could be to do with his hip. He has been signed off as no need for a brace at this time and we are to call if we notice any changes – it hopefully will not progress. Toby does however get some spinal pain but likely to do with his muscles over compensating from his hip. Toby has nearly a 1cm discrepancy of tibia but this does not include mass and quite normal in today’s population so not considered SRS related.

Genetic Testing and Diagnosis

Toby has always been a mystery from the word go. He was once described as a puzzle they cannot complete. Testing and waiting is something that we have had since birth and everything comes back normal. amnio, 2 x micro array, ddd study, 100k study, imprinting disorders – finding out why. A condition that suited Toby very well and one i thought was a good possibility also came back normal. Silver russell syndrome, tested twice. Getting a diagnosis has been hard. Its complicated with Toby as he was so tiny at birth and had complications. He also never had his length plotted at birth which was by far the most restricted – pregnancy scans show the true level of his IUGR.

The most familiar diagnosis to us has been ?SRS which is the most frustrating diagnosis. ? = no one knows. I completed the magic screening for SRS – sending younger photos and measurements, it came back that he scored 5/6, that he resembled a couple of 11p15lom boys. I asked to see genetics again as i wanted the diagnosis to go or to be given a clinical. Toby was given a clinical SRS diagnosis with the opinion that the problem is mosaic making it hard to pin point. We were then invited to be seen by Professor Temple for a 2nd time alongside Dr Davies. If you get the opportunity for a review with two professions with so much SRS knowledge you do not turn down. I knew his clinical stood a good chance of getting taken away. It didn’t, Toby kept his clinical scoring 5/6 (no to asymmetry) with all conditions similar having been ruled out. Toby’s DNA is being sent to Professor Netchine in Paris to go on the SRS gene panel. It could be that the diagnosis will one day change like any clinical can but for now we know what to look out for and we have a diagnosis that will allow for monitoring and care.

Secondary School

At age 11, Toby is doing amazingly. He did need a 2nd operation for bilateral orchiopexy of which was hugely successful at 10. He has bladder meds for urinary frequency that is helping, he takes meds for constipation. At school he is continuing to do very well. He passed 2 of his 3 sats and is continuing to improve on grades in secondary. I honestly have no concerns. He loves to read and always tries very hard. He is still young in himself (quite innocent) but thankfully has no long term issues from his early start. He is quite sensitive and will always go above and beyond for other people/ very much a people pleaser. Very kind and sweet natured who loves interaction. At one point very cuddly/ tactile and we worked with him at home and school to learn social boundaries/ cues and he is so much better now. He can be obsessive over his interests/ hobbies – this makes him who he is. He is very fun, creative, chatty, sociable, confident and his job desires for the future keep changing. He loves to shake peoples hands when he meets them and loves to be centre of attention on stage. He is a good skier and more recently has taken an interest in running – it does still aches his legs but he is used to some discomfort and wants to be at the front – he is competitive and the running is becoming one of his interests that will most likely stick until his hip disorder makes it tricky. He was elected onto the school council after a online pupil vote. He has represented the school in sport, ran in the cross country event, read at the harvest festival in front of other pupils and parents and represented the school in a boccia tournament. We are so proud, as we are of his sister who has grown up in with an older sibling who has needed so much more attention yet is turning into a lovely nearly 10 year old.

Georgia

Georgia

Georgia

Georgia’s Story

Living with Silver Russell Syndrome

This story is written by Jenny, who works for the CGF, in it she talks about her daughter, Georgia.

I thought I’d start with a brief history of Georgia’s first 18 years. It is hard to believe that in September last year, Georgia turned 18 years old. She has come a long way from the baby born at 36 ½ weeks, weighing 3lb 12oz.

The first three years were so difficult; looking back it is hard to imagine how we actually coped with it all. Our daughter Chloe wasn’t even 2 years old and Jessica was just age 6, when Georgia was born, so it was very difficult trying to juggle family life with all of Georgia’s difficulties. But we managed, somehow, and we are sure that Jess and Chloe are much stronger because of those early years. They have both grown up to be very caring and currently both work with children.

Even though Georgia was tube fed from birth, she only weighed 10 ½ lbs on her first birthday. She had a gastrostomy at age 2 ½ years and continued to eat very little orally until she was around 5 years old. She didn’t walk until she was 3 years and 3 months and at this time, weighed around 16lbs and her height was just 76cm — not even on the page of the growth chart! She started growth hormone at age 3 ½ and really from then on, her general well being started to improve.

She has always been a very sociable girl and always so happy. Nothing seemed to get her down, even the endless rounds of tests and investigations. She is still the same today.

Georgia also struggled with speech and language and had intermittent input from a Speech and Language Therapist until around 6 years old. At this stage she still wasn’t really talking, so we took the Local Education Authority to tribunal to enable Georgia to have therapy through her statement at school. We initially paid for this ourselves, but won the tribunal, so the LEA then funded one hour of therapy every week until she left secondary school last year.

Georgia now attends 6th form in a special school and loves it. She started at the nursery at Wilson Stuart, before going to mainstream Reception. She then went to mainstream secondary school and had one to one support for a good proportion of this. Last September she started back with Wilson Stuart and is getting a lot of support. She has just completed work experience with a local theatre and had a brilliant time. She can stay at Wilson Stuart until she is 25 if she chooses.

Georgia was diagnosed at 14 months old with RSS, although this was only a clinical diagnosis. At that time there was only one known genetic cause and that was MUPD7. Georgia was tested for this and it came back negative, but because Georgia ‘ticked many of the boxes’, it was still felt that Georgia had RSS. Less than 10% are actually diagnosed with RSS MUPD7. The second genetic cause (11p15 lom), was discovered many years later, so in 2008 Georgia was tested for this.

This also came back negative, but it was decided that Georgia should see the geneticist again. She had more tests and at the same time took part in a research project with Dr Renuka Dias in London. The results came back and Georgia had tested positive to RSS MUPD7. Testing had moved on considerably since 1998, and the interpretation and diagnosis much more detailed. It was a relief to finally have an official diagnosis, although it didn’t really make any difference, to the management and treatment, it was good to have answers.

Georgia started to eat enough orally by the age of 11 years, so the gastrostomy was removed. Since then, her appetite has been great and she eats a varied diet and is always happy to try new foods.

Georgia had major problems with hypoglycaemia as a young child and was hospitalised many times. The worst occasion resulted in 999 call because Georgia fell into a hypoglycaemic coma and began fitting. This was extremely serious and it was touch and go before she was ‘out of the woods’ — a very scary few hours. On a positive note though, Georgia’s hypos were taken very seriously and she was then referred to Birmingham Children’s hospital under the care of Endocrinology; a very hard lesson for us all though.

Georgia’s first 18 years have been a roller coaster for all of the family. She continues to have difficulties, but she tries so hard and is very determined. One example of this is that Georgia decided to give up meat and ‘junk food’ for Lent. So for 6 weeks, she didn’t eat meat, crisps, biscuits, sweets, chocolates and many other things. She stuck to this 100%, even reading the label if she thought there was a chance of meat being in the ingredients.

Georgia’s final height is 5’ ¼”, which is fantastic. Without growth hormone, we suspect her final height could have been around 4’5”. She has really changed in the last 12 months and is much more mature and copes much better with day-to-day life.

Georgia continues to have a few medical difficulties. She has had ankle braces now for many years and this year started to wear knee braces to stop her knees giving way. In addition, she now needs to wear insoles again. These aids are due to hypermobility. A few years ago she had many falls, which resulted in many visits to A & E with many ankle sprains and one fracture. Thankfully, all of these orthotic aids appear to be helping. She still gets a lot of pain though, but this is usually controlled with paracetomol. Georgia is also still under an orthopaedic surgeon, due to kyphosis, scoliosis and lordosis (various curvatures of the spine).

Kyphosis is her main problem, but thankfully following her latest appointment, the curve has not progressed further. Hopefully this will not cause her any further problems. She is due another review in May 2016. She also has a follow up in August with the Cardiologist and we hope that this will be problem free.

To investigate Georgia’s growth hormone levels, she had an Insulin Tolerance Test a few months ago. Her IGF-1 levels have been low and she gets very tired and struggles to keep up, often falling asleep after school. The results of the ITT were that Georgia showed a peak GH of 5.7 mcg/l (possibly slightly borderline for childhood GHD but normal for adults (Normal Range >3)). Cortisol was normal. The outcome of this is no treatment at this stage but continued monitoring.

I hope this update and history of Georgia gives some reassurance to some of you who have little ones. Georgia had such a poor start, but has astounded us throughout her 18 years.

Lyla

Lyla

Lyla

Lyla’s Story

The Road To A Silver Russell Diagnosis

This story, written by Ceri, documents her daughter Lyla’s first three years.

It was a long and scary journey with repeated hospital stays, but eventually, with a lot of persistence, a RSS diagnosis was made.

Lyla was born on 23rd December 2009 at 36.5 weeks. We first knew there was something wrong at the 12 week scan, Lyla was small for gestational age and they put my due date back a week — even though I was very sure of the dates! At the 20 week scan they noticed I had low amniotic fluid and Lyla was small with a normal head circumference. We returned to the hospital 3 times a week for CTG and a growth scan every two weeks. At 36.5 weeks Lyla was born by elective caesarean at the suggestion of our consultant.

Lyla was born with a birth weight of 1.75kgs (3lb 13oz), had very good APGAR scores (8 and 10) and was admitted to neonatal due to her small size.

Lyla was fitted with an NG tube and dextrose drip while feeding was established. After 4 days Lyla had lost 13% of her birth weight. We had a lot of midwives and some suggested we shouldn’t wake her for a feed as she will cry when she is hungry — that didn’t happen. We woke her every 3 hours and she was very disinterested in feeding. We would basically force feed expressed breast milk and top her up with SMA. When we were released Lyla weighed 1.63kgs (3lb 5oz).

For the first few weeks Lyla was fed 30mls every 3 hours but a feed would take anything up to an hour and a half — every now and then it would be 20 minutes or so and we would think it was getting better! We tried every bottle and every teat on the market and just squeezed it down when she wouldn’t suck. She was very good at looking like she was drinking but nothing would be going in!

After eight weeks of thinking it would get better we took her to the doctors for her 8 week check with a bottle to show how she was feeding, they then referred us back to the hospital to see a paediatrician.

We saw a Registrar on an outpatient basis. We explained that she would take 1.5 hours to have 20–30mls of milk and midwives/health visitors were telling us to force feed her. Lyla was diagnosed with Reflux and was given an NG tube, as well as Ranitidine and Domperidone. We then replaced half of each feed with high energy SMA. Instead of gaining weight Lyla started vomiting after each feed and this got progressively worse. They thought she may have a cow’s milk allergy and so was taken off the SMA and breast milk and given Neocate, but the vomiting didn’t stop. She even started vomiting on an empty stomach but the Registrar would not deviate from her diagnosis or recognise that the medicines prescribed weren’t helping.

We had a number of tests including brain, kidney and abdominal scans, a barium study, PH study and a sweat test for cystic fibrosis.

After 13 weeks of no progress and the vomiting increasing to the point Lyla was vomiting blood, the Registrar referred us to the in-house Reflux clinic which her Consultant managed. He suggested yet more drugs (none of which have worked to date) but also suggested genetic testing to check if there was an underlying issue and referred us to a geneticist. Shortly after this Lyla’s vomiting got worse and much more blood was coming up. We took her to A&E but were sent home with more drugs. We were so frustrated and Lyla was becoming more distressed we went back to our GP and she referred us to a new hospital for a second opinion.

We saw the gastro consultant who admitted us to do more tests and try and find out what was causing the vomiting and failure to thrive. We spent the next 5 months living in the hospital while they tried to work out what was happening. NG feeding was moved from bolus feeding to a continuous pump to see if that helped which it did for short periods of time and she would gain weight. However, as we slowly increased the volume of feeding Lyla would begin vomiting, even retching on an empty stomach until she was being sick up to 50 times an hour — all gastric juice, bile and blood! The only way to break it was to stop all milk, sedate her put her on a saline and dextrose drip for 48–72 hours — no anti-sickness drugs worked — we tried them all!

Lyla had lots more tests during our 5 months living in the hospital including an endoscopy and colonoscopy which showed a lot of lesions in her stomach but it was otherwise clear — the doctors even treated her for cyclical vomiting for a while — if she had it she would have been the youngest in the UK as children don’t normally get it until about 2–3 years — but even that didn’t stop the vomiting. They thought it could be a growth in her brain so she had a MRI scan — that was also clear. We even tried a NJ tube but she just kept retching it up and we couldn’t keep it in place. 

When Lyla was six months old we saw a geneticist. The initial focus was on 3M syndrome which is significantly rarer than RSS and genetic testing had to be done through research. They did a full skeletal survey and took bloods as well as testing CGH and 11p15.

We researched IUGR and growth ourselves and identified Russell Silver Syndrome (RSS) as a potential cause of Lyla’s sickness and failure to thrive. It was the only condition we read about that made any sense at all although Lyla only fitted some of the criteria. We discussed this with the doctors but were told it couldn’t be that it would not have caused her feeding problems and they had ruled that out.

In July our consultant decided to put Lyla on TPN feeding through a surgical line as a way of getting calories into her and the right balance of nutrients. However, when increasing the surgical feed beyond a certain level Lyla started vomiting again despite no oral food intake. It was then that we were referred to the Metabolic Team at the Evelina Hospital as this might explain why milk and surgical feeding were both issues. The team at the Evelina were excellent and quickly established that there was no metabolic cause. They also suggested Russell Silver to us as a cause as Lyla had a similar appearance and history to other patients with this.

Again our doctors dismissed this diagnosis with no suggestion as to how to deal with it. Despite printing stories and pictures from various websites and making lists of the features she has and hasn’t got no one would consider RSS as the cause — we had various comments from doctors including — it can’t be Russell Silver because ‘she hasn’t had ear infections’ or ‘she hasn’t got the body asymmetry’ or ‘I know Dr Russell and he’ll tell you it’s not Russell Silver’ — My favourite!!

I contacted the geneticist and insisted on testing for MATUPD7, we took this test in September when she was 9 moths old.

We read that RSS babies need Endocrinology support and we pushed for an Endocrinology referral to GOSH to try and keep things moving forward but had to argue and really push to get one. In the end we waited for our consultant to go on holiday and got one of his colleagues to refer us in his absence.

We carried on with TPN and some occasional solid feeds until we went home. We were discharged with a homecare plan in place for the TPN. TPN wasn’t the easiest to manage , in the short time she had been on it she had 3 line infections and had to have IV antibiotics and other medicines.

Two days after being discharged in early November we were back in hospital as Lyla got sick again she had bronchiolitis, a line infection and septicaemia. Just as we thought she was recovering she had heart and lung failure, it took over 5 hours to resuscitate her and we spent the next 3 weeks in intensive care with Lyla on an oscillator. We told the doctors we think she has RSS and all meds were mixed with dextrose to ensure her blood levels stayed stable.

Although this was unrelated to the long-term issue Lyla had because she was small it affected her very badly. She had to go on an oscillator because her lungs were so bad — at the end of the first day the machines were working at their hardest and we were hours away from being flown to GOSH. Luckily they noticed a build up of fluid under her skin and she had that drained and started responding.

After 3 long weeks Lyla was woken and we were transferred back to the ward where they started to wean her off the Morphine and other drugs that she had become addicted to. It was when we were on the ward the geneticist called and said she had some news. She came to our room and said the MATUPD7 test was positive — it was Russell Silver. Finally we had some answers!

We made it home over Lyla’s 1st birthday and Christmas, it was a stressful time with the TPN but we were happy to be home. Lyla weighed 10lbs and was 45cm. 

In January Lyla got another line infection and we were back in hospital. The infection was resistant to all of the antibiotics and her line had to be removed. The initial plan was to remove the line wait two days and then insert a new line. We read that a lot of RSS babies had a PEG and the gastro team agreed that this was a better way forward and started to wean her off the TPN.

While they were weaning the TPN we were replacing the calories with puréed food and high energy milk, when the line was removed she was taking enough calories to replace the TPN but wasn’t keeping her blood sugar overnight so we started to syringe feed high calorie milk to sustain her blood sugar.

On the day she was to get the PEG the surgeon came to see us and said he was only 80% sure she needed the PEG and wasn’t happy to do the surgery unless he was 95–100% sure she needed it — to which we agreed.

We were discharged and kept a food diary of all of her calorie intake and fed her about 30g every 1 ½ hours with Fortini overnight to sustain her blood sugar. This gradually increased until we were down to 7 feeds a day and Lyla’s intake was 100–120g of pureed food. This was our final prolonged stay in hospital and since February 2011 we have only had one overnight stay.

Two years on Lyla is still feeding 6 times a day, predominantly eating pureed food with the syringe. She can tolerate up to 150g a feed now and no longer holds it in her mouth without swallowing. She still needs winding regularly but is getting stronger and sometimes burp herself. We use all the standard distraction techniques to try and keep her sat still and eating, and this is much easier now we know what her favourite TV programmes and can use the V+ box! She is slowly starting to show interest in solid foods — buying foods at the supermarket and putting bits in her mouth but tires easily when chewing and has difficulty swallowing lumps so everything needs to be washed down with juice. Now she is nearly 3 we can ‘negotiate’ a little more with her which is helping. She stills needs movicol when she gets blocked up and dioralyte when has been vomiting but it is becoming less regular. 

When we left hospital we were assigned an early intervention worker who has been really good a co-ordinating the different specialists Lyla needs. She regularly sees speech and language therapist, portage, community dietician, physio, OT, dentist and optician as well as the Gastro and Endocrinology teams at GOSH. We seem to have an endless series of appointments on a weekly basis but try and keep as many of them as possible despite the challenge of trying to fit them around feeds and sickness.

Thanks to the physio Lyla started walking at 22 months, she didn’t crawl as she couldn’t lift her head. She still falls and hits her head where she can’t hold herself up but is getting stronger by the day. They ordered her a small chair and table and got her tiny, supportive shoes so she could walk outside.

Lyla is yet to say her first word — just before she was two she started getting very frustrated with not being able to communicate so thanks to Mr Tumble we learnt to sign, Lyla picked this up very quickly and the frustrations seemed to pass. She has found her voice and attempts a few words and animal sounds but nothing is clear.

The OT have found her s step for the bath so she can see over the top and feel more involved and have adjusted the steps to the house so they are only 3 inches to give her independence coming in and out. They are working on an adjustment for a potty so we can start potty training. She is not able to hold herself up and falls to the bottom of all the ones we have tried!

The portage team have really helped with her development and getting her prepared for Nursery. We have attended a ‘social skills’ group weekly to help with her interaction with other children. Lyla is very cautious around small children as they tend to try and pick her up (often dropping her!) and treat her like a doll.

 

Lyla will be 3 in December and is due to start nursery in January which we are apprehensive about. After three months and a series of assessments Lyla has just received a full statement to support her at nursery, which means Lyla will get up 30 hours one to one support to help with her social and physical needs as well as speech and language. Without this we may not have sent her, but mentally she is definitely ready. We were asked to consider a range of settings and having looked at several different nurseries we have settled on a mainstream pre school.

In May 2012 Lyla started growth hormone and her energy and strength have improved significantly and she seems to be fighting the bugs a lot better than before — although we haven’t hit the winter yet! Lyla has really started to progress in the last 6 months and is starting to assert her independence! Despite the feeding and physical challenges we are finally starting to feel like things are settling down a bit.

Lyla is an extremely happy child and always has been, with bags of energy so she is difficult to keep up with. She loves reading, drawing and numbers, as well as going out to her regular groups each week including gymnastics and Boogaloo.