Wilf

Wilf

Wilf

Finding my voice: from mouse to Mama Bear

By Martha

“Just treat him like any other baby once you get home. He’ll be fine,” said the paediatrician, cheerfully.

“Really?” I thought as I looked down at our newborn son, all saggy skin and strange, long fingers. “Don’t cause a fuss. The doctor knows best,” I told myself. I smiled and nodded, happy to be leaving hospital after a difficult pregnancy, numerous growth scans (which were all ‘fine’?!), and a three-day stay in the neonatal unit to stabilise our baby’s blood sugars after birth. And so began our journey towards understanding the subtle – but profound – effect that SGA has had on our boisterous, infuriating, inspiring, wonderful son, Wilf.

I don’t think I’ll be giving anything away by revealing at this point that the paediatrician’s advice was decidedly unhelpful, dangerous even. But it was a piece of advice that I would hear again and again over the next few years as Health Visitors, GPs, doctors, and teachers failed to listen when I tried to explain that I thought there was something a bit amiss with Wilf.

 “It isn’t reflux unless it flies across the room!” I was told by one Health Visitor as I held screaming Wilf who had just been sick for the umpteenth time that day. And so, I went home and tried my best to breastfeed a hungry, sicky baby.

Newborn SGA
SGA - Small Gestational Age

“He’s nearly one. He shouldn’t need a night-feed any more. Perhaps try letting him cry-it-out,” advised another Health Visitor. And so, I went home with my sleep-adverse toddler and withheld what I now realise were much-needed night-time calories.

 “Hypoglycaemia is rare in children. Come back if it’s still a problem when he’s seven,” said our GP when I took four-year-old Wilf to see him because I was concerned about his eating and growth. (He’s seven and it’s still a problem).

“No, he can’t have any extra snacks because then all the other children will want some,” explained a Reception teacher after I tentatively suggested that his hyperactive and disruptive behaviour in the classroom was worse when he was hungry. And so, I went home and hoped that he would ‘just grow out of it’ like everyone promised, ignoring the little voice inside of me that was whispering, “something’s wrong.”

It was late one winter’s night in 2018, after yet another difficult day when I had been called into school to discuss Wilf’s behaviour, that I stumbled across the Child Growth Foundation’s website. I was feeling pretty low and desperate, but I saw that there was a helpline and resolved to call it the next day. This turned out to be a life-changing decision for our family. A friendly voice answered and I explained my sorry tale while trying not to ramble or cry too much. After listening patiently, the voice said words that I’ll never forget: “SGA is a condition and you need to start thinking of it like that.” Ping! Light-bulb moment! Looking back, it seems ridiculous that, until this point, nobody had explained to me that my son had been born SGA and that this could have life-long consequences.

I spent the next fortnight furiously Googling ‘SGA’ and ‘low birth weight’, getting much of my information from the CGF and MAGIC Foundation websites. I complied a list of the characteristics of SGA children and it was like reading Wilf on a page. Born below the 3rd percentile. Tick. Frequent spitting up. Tick. Inadequate catch-up growth. Tick.  Hypoglycaemia. Tick. Motor skills delay. Tick. Tick, tick, tick… And there, at the bottom of my list: increased risk of ADHD. Tick?

And so, that’s where we think the next stage of our SGA journey will take us. Wilf is currently on the waiting list for an ADHD assessment which we hope will take place at some point in the next few months. I’m sure many parents would be devastated to learn that their child might have a neurological disorder, but I’ve sensed since before he was even born that Wilf would be a bit different to other kids. He dances to the beat of his own drum, and that’s just fine by us.

I’m unrecognisable from that first-time mum who smiled and nodded at the hospital paediatrician, not causing a fuss. I might not have a medical degree, but over the past few years I have become an expert in my son and I’m sure I could give most doctors a run for their money when its comes to understanding how SGA can affect a child and their family. The CGF has been key to all of this. Just knowing that there is a group of people out there who ‘get it’ and will have have your back when you need them has given me the confidence to be the mum I want to be. I’m now most definitely a mum who will cause a fuss. I am a Mama Bear. I am Wilf’s mum: hear me roar! (please. If you don’t mind).

Small Gestational Age
Skye

Skye

Skye

Skye’s Story

When Skye was born she was this perfect little bundle we had waited so long for, (six years to be exact). She was perfectly proportioned but petite at 6lb 71/2oz. As the weeks and months went on, we noticed that she was still perfectly petite, she had gained 5lb in six months.

In the first two months Skye had severe reflux diagnosed and we started weaning to try to help with how much she was bringing back. The following six months she only gained two pounds and we were now seeing a general paediatrician and dietitian. Skye was put onto a very high calorie diet and we started to be referred to other consultants to try to find out why she was failing to thrive.

At one Skye had gained a total of seven pounds and was still in 0-3 month baby clothes, she didn’t look ill, she didn’t seem ill. To be honest we were not too concerned at this point because she was just this amazing little person who was happy and meeting all her milestones. People would stop in the street and stare at her because she was so small and looked very young but she was walking and talking.
We saw no end of specialists that her general paediatrician sent us to find out what was going on but we found no answers as to why she seemed unable to gain more than a few pounds.

At two years old Skye weighed 17lbs, she was still meeting her milestones and seemed happy and healthy. Our paediatrician referred us to our current endocrinologist, we walked in and she said ‘I know what’s wrong with her’ it was such a relief. Although she was happy and seemingly healthy, she had endured no end of testing from so many doctors to try to find out what was wrong, the relief was monumental.
We were referred to Great Ormond Street to have her stimulation test. We went in February 2009, Skye was two and a half, we were admitted overnight and within a few hours of starting we were told that she produces next to zero growth hormone. They told us we needed an MRI to check her pituitary gland before starting growth hormone. We had the MRI done and were told that Skye’s pituitary gland is back to front and deformed. At this point we were told her other hormones seemed fine but to be prepared that they may fail over time.

 It was a scary thing, although we had an answer, we also had this lingering dread that at any time she could lose one or all of her hormone production. We didn’t know what the future would hold and that was tough.

On Skye’s third birthday we started her growth hormone injections. It was so traumatic. Skye is needle phobic, as am I. It took both myself and my husband to pin her down to give her injections. We even tried strapping her into car seat in desperation. The first year was like a horror story. We felt like we were abusing her because she was so strong, and she was adamant she didn’t want them. She screamed, kicked, bit, scratched anything to get away. I cannot put into words how hard it was to do that to her.

After the first year we started using Emla cream, it was a game changer. Although she didn’t want them. she could now tolerate them.

At five Skye started saying she would do anything to stop the growth hormone treatment, I told her she had to talk to her doctor. We went to Great Ormond Street Hospital and she told them she wanted to stop, they responded by offering her any device she wanted. She was given all the DVDs to watch and asked to decide which one she wanted. Over the next week we watched them all and decided to go with the Easypod. We called them and they organised the delivery and training for it.
It has made a huge difference to her treatment; 100% she would still stop tomorrow if she could, and asks at every clinic appointment when she can stop but it was what she needed; she needed to take control as much as anything.

At about six Skye started to get headaches regularly and was tired all the time. We had some bloods and confirmed her cortisol was low. Initially we were going to be given a two-week course of hydrocortisone and then wean off it, but during the two weeks she became a totally different child. We hadn’t realised how quiet and still she had gotten in the few months leading up to the trial. We agreed that Skye would stay on hydrocortisone permanently and that’s when she became steroid dependant.

The following five years were pretty uneventful, she had a couple of adrenal crises but generally, she was well.

In 2019 she began to collapse and go into adrenal crisis with no warning. This changed everything, she couldn’t go anywhere alone, she needed someone to be responsible for her injection wherever she went.

Thankfully, after she collapsed at a St. John Ambulance cadets’ summer camp, the doctors started to take it more seriously, previously they had suggested that she was having panic attacks. At camp the staff are all paramedics, nurses and other health professionals, so we knew that there was something more to it. After she was discharged from the hospital, they allowed her to go back to camp. I thought they were mad, but I trusted them and their ability to look after her.

They started to track her blood sugars and it showed that she was having hypoglycaemia. Even with this information it was hard to get anyone to take it seriously, after all her medications are supposed to help regulate blood sugars. Over the next six months we continued to monitor her sugars at home when she wasn’t feeling well or looked pale. In November her hypoglycaemia had gotten out of hand, she had collapsed without warning six times in total. Her sugars were in the ‘2s’ all the time. She was so lethargic and miserable. Her vision was also deteriorating. She was admitted and within 24 hours we were told that she has now also lost her thyroid function. We started treatment for that and discussed the hypoglycaemia with her team. We agreed that she would have a Libra monitor fitted to continually monitor her sugars for two weeks. It showed her low blood sugars so we decided that we would try to increase her growth hormone and maintenance hydrocortisone to see if that would help. Thankfully it has made a huge difference.

She is now dancing around the house, making a massive amount of noise, being generally annoying.

Now to the stuff that is going to make her cringe……….
She has very early signs of puberty but at 13 1/3 I’m worried it’s stalled. It may be just that because other hormones were wonky it interrupted a bit but only time will tell.

Rhys

Rhys

Rhys

Rhys’s Timetable

My son, Rhys, is 5 years old with Sotos Syndrome. Anxiety and repetitive questioning is a big part of him and our lives right now which is very draining. It is something I really wish I could help him with as it impacts every part of his life, but nothing I say or do seems to help. He has just started a SEN school who are really understanding and say that his timetable helps at school to a certain extent, so we now also use one at home.

I have tried to write a poem from Rhys’ perspective to try and illustrate what life is like for him every day (although he actually says ‘What on my timetable’ but I didn’t think that flowed as well). I hope I have done a good enough job and that many of you will relate:

What does my timetable say?
I get up very early and I worry what’s going on today,
I can’t see why every day just isn’t the same
Will it be school? or will daddy be home?
What does my timetable say?

It’s school today, but I didn’t want that
I’m worried about leaving my mum so I’m going to scream, shout and lash out
I can’t get dressed, it makes me panic
What does my timetable say?

Who will be at school I wonder; which classroom am I in today?
Is it going to rain or shine
What does my timetable say?

What’s that noise? What’s that flashing? Now I’m really on edge.
I can’t focus or understand anything you say.
I still can’t get dressed for school right now
What does my timetable say?

You’re asking me questions but I don’t understand
I’ll ignore you and hope that it stops
Please leave everything where it belongs
What does my timetable say?

It’s the weekend now and daddy is home. Phew no school today
But wait, what will we do then, where will I eat and play?
I don’t want to go out, I don’t want to stay in
What does my timetable say?

What does my timetable say?
It doesn’t matter anyway!
What does my timetable say?

Jacob

Jacob

Jacob

Jacob’s Story

During pregnancy Jacob was not growing as he should from around 25 weeks. I was scanned fortnightly and offered the amniocentesis as measurements of Jacob’s limbs and my severe polyhydramnios indicated he may have Down syndrome. I refused this as it could have had risky side effects so we continued with the pregnancy. I was signed off work from week 29 and told to rest as I was high risk to go into labour early and Jacob’s cord could have prolapsed.

I was induced at 40+5 even after all the fears of an early labour. Jacob was perfect. He sat on the 50th percentile for weight (7lb 8oz), length (50cm), and head circumference. The doctors checked him over and confirmed he did not have Down syndrome. We were allowed home the next day to start our life as a family. He latched on and seemed to feed well initially. However Jacob didn’t seem hungry. He never cried for food and never found ‘his lungs’ like new born babies do. I decided with the support of the health visiting team to feed Jacob a combination of breast milk and formula to try and top him up. After around 3 weeks Jacob went completely on to formula. This didn’t make a difference and Jacob’s weight fell percentile lines very quickly. When Jacob was 3 months old we saw a paediatrician. They recommend dream feeds (Jacob slept through from 8 weeks old) and changing his formula. We had some blood tests and were knocked back and forth between local paediatricians. Some mentioned possible dwarfism and some had no answers at all. Jacob was tested for various allergies, basic genetics, organ function and cystic fibrosis just before his 1st birthday. When this came back negative I was at my wits end. Jacob was still tiny and didn’t seem to grow at all. He was now completely off the growth charts for length and weight. I knew in my heart something was not right with my son. I spoke firmly to a few people and we were eventually referred to the Endocrinologist team at another hospital a little further from us. We saw the lovely Endo doctor there who took some bloods and listened to me about everything. She thoroughly checked Jacob over and seemed to finally take on board the concerns we had. She decided a referral to Great Ormand Street Hospital needed to happen sooner rather than later.

Around 6 months later, lots of phone calls in between, Jacob had his STIM test. He was 19 months old and handled it so well. He was around 70cm at this point. I was convinced this would give us the answer, Jacob would be GHD and the worst that could happen is we would need to inject him with hormone every day. We were admitted and the nurse took a blood sugar reading. Well before we even started Jacob’s bloods were dangerously low. The nurse asked if we had noticed any issues with blood sugars and we both discussed times Jacob ‘zones out’ at home. She said this could be a hypoglycaemic attack. Anyway the STIM was done and despite a few more low readings of blood sugars we went home.

Well Jacob passed this test with a peak of 11! When the Endo Dr called, after I had been on the phone every day hassling her for results, she said she was surprised too. But she then went on to say that this indicated Jacob’s body couldn’t use the growth hormone it produced and it maybe more complicated than we first thought.

A few months later we finally saw the Professor at Great Ormand Street who was absolutely amazing. He too confirmed that Jacob’s body appeared to be rejecting the growth hormone. This is where we discussed the possibility of Insulin like Growth Factor Deficiency. I had come across this on my many google searches as to why my son wouldn’t grow. This is the hormone produced by the liver in response to the growth hormone it receives. Jacob’s was undetectable. Nothing. Our first step was the IGF1 Generation Test which involved giving Jacob varying doses of growth hormone to kick start his liver into producing IGF1. Its done in 3 stages and usually the 3rd stage isn’t needed as by this point the liver has responded. Jacob needed all 3 stages and still by this point his IGF1 was undetectable. It hadn’t worked. We were devastated as I had again convinced myself we finally had the answer. By this time Jacob was almost 2.5 years old and had been at Great Ormand Street every fortnight for blood tests since his second birthday.

Jacob also had a full skeletal survey which wasn’t easy as we needed 12 photos of his body and we literally had to pin him down. This confirmed Jacob had delayed bone age but no sign of dysplasia.

At our next appointment the professor confirmed Jacob had Severe Primary Insulin like Growth Factor Deficiency. This was very rare and he would need to start increlex treatment. He met all the criteria needed for NHS England to fund it. Increlex replaces the IGF1 that Jacob’s body doesn’t produce. Again we went home and I googled. Wow, the side effects were terrifying and I had no idea what this meant for Jacob’s future. He was only 78cm by this point which meant since birth he hadn’t even grown the length of a ruler. Jacob was also under the feeding clinic as he hadn’t developed the muscles in his face to help him chew his food.

We were admitted into Great Ormand Street in July 2018 to start increlex treatment. We were having a 4 night stay to ensure Jacob was closely monitored. The first day was full of tests. They give the child a full MOT before increlex can start and this is done yearly to ensure side effects can be closely monitored. His organs were scanned, eyes tests, hearing tested, throat looked at and weight and height taken. We felt like we saw every department in the hospital. Our amazing nurse came to see us to confirm Jacob is child number 15 in the UK with this diagnosis. We couldn’t quite believe how rare he is, I still can’t get my head around that! We are now also on the 100,000 genomes project with hopes of figuring out what has caused the condition for Jacob. So far we have no idea why or how. It makes it very difficult to accept for us as a family.

 Since treatment started Jacob has responded well. We still have issues with blood sugars which we handle well at home. He lacks energy and is often very tired especially after a day at nursery. Jacob is on the waiting list for an autism diagnosis but again, we don’t know if this is linked to his PIGFD or just how Jacob was always going to be. He has an injection in the morning within a 20 minute window of food and if his blood sugars are high enough. It’s the same in the evening and if he appears symptomatic during the day, his blood sugars are checked regularly. Jacob had his dose increased from 0.04 to 0.06 in January but since then we have noticed his difficulties with breathing, especially in his sleep and he has started vomiting if he cries or laughs too hard as he can’t catch his breath. We went to GOSH for an urgent sleep study which had shown Jaco’s tonsils are growing very quickly and will probably need removing along with his adenoids.

Our days are revolved around injections, food, blood sugars and intermittent vomiting. But, Jacob continues to be amazing. He now shows me where he wants the injection done and helps to take his blood sugar readings. He still hasn’t been able to tell us when he is having a hypo but we usually spot it quite quickly.

He showed good signs of growth in the first 4 months and we are yet to have him officially measured again until June. We hope for the same growth.

No one can tell us what is expected as it’s so rare, Jacob is part of a trial and will help to shape the future of SPIGFD.

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.