Toby’s Story

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.

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.

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’s Story

Living with Silver Russell Syndrome

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 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.