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?




James’ Story

Diagnosing Sotos Syndrome

This is James’ Sotos story as told by his mum, Michelle. From birth, James appeared generally floppy and lethargic and he struggled to feed. Several different conditions were suggested and tested for which came back clear. After months of being in and out of hospital, a Sotos diagnosis was finally made.

James was born on 4th December 2011 after a pretty uneventful pregnancy, apart from the fact I was absolutely huge! We put this down to him being my third child in fairly quick succession but when he was born it was obvious this wasn’t the reason why but his 60cm length and 10lb6oz weight! 

During labour it was evident that something was amiss and scrapings from his scalp showed issues with his blood gases. An emergency c-section ensued and after a traumatic entrance to the world, James was rushed off to the Neo Natal unit to be given antibiotics, glucose and oxygen. It was some 12 hours later when I eventually got to meet him. It was strange seeing such a large baby lying next to the tiny premature babies. James wasn’t able to feed and had no sucking reflex so was tube fed but even then his milk had to be changed several times as he kept bringing it back up. Nobody really knew what was ‘wrong’ with James and several things were suggested, Cerebral Palsy and Mitochondrial Disease being amongst those suggestions due to his generally floppy tone (yet very tight in some areas) and lethargic state. James barely woke, couldn’t open out his hands and seldom even moved his head from side to side. At 4 days old the geneticist from St Georges, London came to see us and thought he could possibly have Weaver’s Syndrome. Xrays were taken of James’s arms and these were sent off to Sheffield for review. Some weeks later we got the news that they didn’t think he had Weaver’s.

“we were allowed to take James home as they believed he was feeding ok”

After two weeks in the Neo Natal nursery, we were allowed to take James home as they believed he was feeding ok from a bottle and as he was stable and off oxygen there was nothing more they could do there than we could do for him at home. Once we got him home he seemed to sleep more than ever and his feeding was most definitely not ok. He would take one suck and then fall asleep so the nights consisted of a constant round of 20 mins sleep, one suck and back to sleep before waking for another suck. Of course, this meant that James was then losing weight. After two weeks at home and visits from the health visitor we were readmitted to the local hospital for them to review and observe his feeding. After a few days in there they sent us home with some Gaviscon.

During the very early weeks James seemed to have every test going — CT scan, MRI, XRays, EEG, ECG and more blood tests than most would have in their lifetime. Back home we tried to get into a routine as our older son, Spencer, was at nursery and our daughter, Emma, was at the childminder’s once a week so she could still see her friends there and keep her space for when I returned to work. It was only a matter of weeks before we were readmitted again, this time after me calling the GP surgery desperately trying to get an appointment as James again was particularly sleepy, sounded very chesty, was taking practically no milk and just looked very grey.

I recall the Nurse practitioner on the phone telling me that babies get colds all the time and they didn’t take much milk when feeling unwell. I stood my ground and said I thought she should see him so she reluctantly agreed but as soon as we got there and she saw him she sent us straight up to the hospital where James was given a full examination and ended up with an NG tube again and IV antibiotics as they thought it could be Pneumonia. After a chest XRay they could see dark patches on his lungs. We stayed in hospital for a week until James recovered but I still battled with the nurses who thought I just wasn’t feeding James and I had to persuade them by getting them to try themselves, that he just didn’t suck.

James’s consultant arranged for us to see the geneticist again for more bloods and also referred him to the Evelina Children’s Hospital in London to see the metabolic team there as he was convinced he had Mitochondrial disease. Thankfully, after a four month wait the results came back clear. He also arranged for James to have a swallow study there. The team at Evelina were great and the swallow study proved James had a disorganised swallow and had been aspirating silently which was causing all the chestiness, especially with his reflux. Omeprazole and Instant Carobel became our best friends and seemed to really help with his feeding. He was put onto Nutrini milk which helped with his weight gain and his health started to improve.

After seeing the geneticist again she advised she was going to test for Sotos Syndrome. Like most people we indulged in a spot of ‘Dr Google’ and we could instantly see the similarities. James received his official diagnosis in September 2012 when I had already been back at work a month.

With regards to childcare, we were very lucky that we had great childminders who looked after James once a week and even they had commented that James looked like a child they had looked after within their group of Childminders, who, incidentally, had Sotos Syndrome.
James also has a diagnosis of Global Developmental Delay and has yet to meet a milestone on time. He didn’t sit up by himself until July 2013 (we were in Brighton hospital at the time and he thought the tilted cots were great fun, slamming himself back down each time he managed to get up). He was cruising around the furniture at around 30 months and started to take a few tentative steps indoors in October 2014.

James received Portage sessions from about 7 months and these came to a close when he was offered a place at his nursery in September 2014. It is a Special School for children with Severe learning Disabilities and Complex needs. He loves going there and is making real progress. Although James cannot talk we understand what he wants from his brilliant facial expressions, body language and the tone of his voice. We have had hundreds of appointments in the past 3 years — more therapists than you can shake a stick at but thankfully these are now fewer due to the nature of the school and being able to incorporate the appointments there.

We are lucky enough to have my parents come and look after James, Spencer and Emma during the times my husband and I are at work and he is not at nursery and he has developed a fantastic bond with them. James is also very lucky that Emma (5) is like a second mum to him and absolutely adores him.

James is a truly adorable little lad, always a smile on his face and although the erratic sleeping patterns, feeding difficulties and mobility issues make life more awkward than for most, we love him to bits and look forward to seeing more progress as the months and years go on.



Names of individuals and places have been replaced in this article for reasons of privacy.

We had known since Sarah was a 28-week foetus in the womb that there was fluid in the ventricles of her brain. Amniocentesis blood results suggested Turners Syndrome mosaicism: this was proved incorrect after birth, following further blood tests.

After birth she had two admissions with jaundice and two with bronchiolitis and she was admitted to the high dependency unit. Her thyroid function was initially poor, but has since improved.

We live in Aberdeen, and I work part-time as a District Nurse and my husband Ian is a full-time MLSO at our local hospital. Our son, Matthew, is five and has just started school. Sarah was three in July and started her pre-school year at nursery in August.

Generally, we knew her development was delayed, and gloomy predictions were made by various health-care professionals as to a possible diagnosis. I can say now that we were all very anxious.

When we were told of the probable Sotos Syndrome diagnosis, we were immediately on the Internet for any information we could find – and found the SSSA in America. We found their guidelines website page to be an absolute image of the symptoms and features that Sarah displays… right down to the lack of enamel on her teeth (her front tooth is black), and were ecstatic to see that the outlook may not be so bad at all.

On joining the Child Growth Foundation, we hoped to find other families in similar situations and perhaps some who are further down the line, to share knowledge and tips, etc.

Sarah went through the pre-school assessment process and has been placed in a mainstream council nursery with added support for speech, play and physiotherapy at set times. We are pleased with her progress.

I am currently searching for information on toilet-training in children with low muscle tone. Perhaps there is no specific information other than to wait until the child is ready! Your comments and suggestions would be appreciated.

Recently I was successful in applying for parental leave without the original guidelines set by the government. Sarah was born before December 1999, but as a health service employee in Scotland I am entitled to the same conditions as my colleagues. This translates to all such employees with a child under five years being entitled to four weeks a year parental leave. The first four weeks are paid for each child; after this it is unpaid leave.

This has made such a difference to our lives; relieving the stress of finding enough annual leave days to attend outpatient and speech therapy appointments. I was on the verge of resigning when I discovered this new right (not through my boss, I might add).

We also were successful in our application for Sarah’s DLA, although we were reluctant to apply at first. I think that the form might put a lot of people off, but there are lots of professionals who can assist in filling in the form.

SOTOS: Sarah Update

Names of individuals and places have been replaced in this article for reasons of privacy

Sarah is now twelve and a half. She is about 5ft 8 tall, approx 12 stone and wears size 10 shoes.

Sarah commenced her local secondary school last August in Aberdeen. She is at a mainstream school with support from ‘Support for Learning’ staff for most of the day, and she settled in really quickly. I did visit a couple of schools before accepting her place at the local school though. The school we chose seemed to be offering a good support department, and more importantly as far as she was concerned, her friends from primary school were all going there.

Sarah’s recent report on parent’s night was that she is a happy child, is interested in all her subjects, tries hard, and behaves well. Maths has continued to be a problem for her; she is allowed to use a calculator and gets lots of assistance. She rarely gets homework.

There have been a couple of small problems but these were sorted out quickly with minimum fuss. One was that Sarah felt overwhelmed in the crowded changing rooms at PE, so they have allocated her a small room to get changed in, just for her. Another problem was that she couldn’t participate fully in PE because she gets very tired due to her low muscle tone, and finds some of the activities more difficult than other children. Her PE teacher has adapted some of them e.g. During badminton she uses a balloon instead of a shuttlecock. Sarah doesn’t seem to mind that this makes her different as she is enjoying it so much, and is therefore getting precious exercise.

At lunchtimes Sarah gets out of class five minutes early to give her more time to get to the dining room, because she was always at the end of the queue and didn’t then have time to eat a meal, as she takes a bit longer to eat than others. This is working well, and she is enjoying a healthy meal instead of grabbing a quick Panini.

Sarah hasn’t gone out at break-time into the school grounds so far – preferring to go to the Base where they have lunchtime activities running. She is not allowed to leave the school grounds, and so far she has not attempted to go with her old friends from primary to the local shops. Reasons for this are that she has little road sense, and is petrified of dogs – she would step into the road in front of a car to avoid a dog. This is something that we will have to address. If the dog is on a lead then it’s deemed ‘safe’ and she might even talk to it. This stems from when she was little and was knocked over by two large boisterous dogs on a beach. When we are out together we practise crossing roads, but she is easily distracted.

Outside school, Sarah does not attend any mainstream clubs. She used to attend Girls Brigade – this lasted three or four years, then she became disenchanted with it due to the amount of ball sports they were playing at the meetings.

Sarah has attended various dance classes over the years with varying success, but none at present.

Her favourite evening at present is Tuesday, when she goes to the local disabled children’s club. She has friends there – mainly among the volunteer adults, but also some of the girls her age that she has known for years.

We try to go swimming as much as possible to help keep her weight down, and she has disability swimming class on a Tuesday also. Sarah can swim up to six or eight lengths of the 25m pool very well.

Her other regular social event is on Saturday when she goes out with a paid carer from a support agency for four hours. She has the same carer every week and they get on well. Usually they go to the cinema, but recently Sarah has had a horse-riding lesson slot at a ‘Riding for the Disabled’ stable locally, which she loves now after lots of encouragement and false starts. This has been great for her confidence and her muscle tone.

Health wise, Sarah has been fairly well this last year, although she does complain at times of terrible fatigue and has missed school days occasionally because of it. We have had blood screened with no obvious cause identified, and I think they are putting it down to changes in her body, the ravages of having to walk a lot more between classes, and all the schooling changes now that she is at secondary school.

She attends Endocrinology (keeping an eye on her height / weight / development), Orthotics (inserts in her shoes), Audiology (reduced hearing variable in both ears) and Dermatology (eczema and allergies).

Sarah had a physiotherapy slot over the last six months, which has now finished, and we continue with the exercises at home. This was after a referral by the school doctor to see if she could get any relief from her painful feet. The physio discovered that her hamstrings were too tight due to the excessive growth rate, and exercises have lengthened them. We now have an open appointment should this happen again, and I have been shown how to assess this.

The only medication she takes is Fybogel for her chronic constipation, and Eye Q. She had an ultrasound scan of her kidneys in December to check for reflux, because the endocrinologist had a new registrar who had been looking into Sotos syndrome and decided it would be worth ruling this out as a cause of her fatigue. Although she has not had UTI’s confirmed by urine sample testing more than a couple of times in her life, we are assuming that all was well as we were not contacted to tell us otherwise and we are not due back to clinic until August. I asked for an ultrasound scan of her ovaries while they were at it, as there had been mention years ago that it would be worth checking out that they develop correctly once she got to age twelve, and all parts were present and correct thankfully.

Sarah is trying hard to always eat healthily and to take as much exercise as possible. I have bought her active games for the Wii – she likes Just Dance. This seems to be the most important area to focus on at present, and has been for the last few years. We have spoken to a dietician, but they do not have the resources, it seems, to see her regularly. Her low muscle tone makes it harder for her to exercise for extended periods, and gaining weight only makes this worse, so it is a vicious circle and we are currently battling to break it.

Sarah is very sociable when she gets the chance, and fashion-conscious, as is usual for a twelve year old girl. She spends her winter evenings watching programmes on TV about fashion and make-up, and then practising in her room. She knows exactly what clothes she likes and won’t usually wear anything she doesn’t think is ‘in’. Sarah will look up websites to find clothes she likes then direct me to them, with hope! Recently we bought a hooded sweatshirt with a JLS logo from an online shop that she had spotted in her size (adult size 16). Sarah also likes going to watch musical stage shows and small venue concerts – we had to go and see Jedward when they were in Aberdeen last year. Sarah doesn’t see her friends from school out of school times yet – perhaps this will come? She has friends in my friends’ children – a lot of whom have special needs of some sort, as that is what has brought us all together – our children. We go on holiday and away for weekends with these friends and her brother Matthew.

We are hoping to be at the conference this year in November, having missed it last year. And… I have discovered a company (www.magnusshoes.com) that sells shoes for big feet. I’d been doing an online search and this was the only company I found selling big shoes in the kind of styles that Sarah would want to wear, and would be able to wear with inserts in her shoes. By coincidence their main base is in Northampton, so I therefore plan to get there early on the Friday before the shop shuts at 4pm, to check out their winter range. If anyone else is interested then I am enquiring if they would be willing to keep the shop open a bit longer on Saturday the 5th, (it shuts at 12pm) or whether they could send someone to the Hilton with some of their product range. The shoes range from £45 to £90. We have ordered from them this week, and I have spoken to them on the phone to get more information on their shoes, in our bid to get new school shoes. Sarah hasn’t worn them yet to be able to give a recommendation of the wear, but they are of a high quality. I don’t know how many of you have big feet issues, but if you are interested in the shop for the Saturday then please let Jenny or myself know so we can gauge interest. Maybe someone else has bought from this company and can let us know what they thought of them.



Romana was born after an uneventful pregnancy, but a prolonged and difficult labour. She weighed 8lb 7oz, and was an extremely contented baby. She fed well and slept through the night from approximately ten weeks.

Romana was our first child, and we had very little idea of what to expect in terms of development. However, after a few months we did notice that she was reluctant to hold eye contact for any length of time and seemed unusually quiet for a baby of her age. Since she was still remarkably content and such an “easy” child, we counted our blessings.

However, when we realised that Romana was missing some of the major developmental milestones, we started to get slightly concerned. The paediatricians did not share our concerns, assuring us that she would catch up and it was not until she was still unable to walk at the age of 24 months that they started to take us seriously.

Romana eventually took her first steps at 26 months and was diagnosed with global developmental delay. There followed a period of several years during which Romana had a series of tests, all of which failed to provide any explanation for her delay. Inevitably, the first question asked by the paediatricians was, “Did Romana have a difficult birth?” However, when asked whether this might be a possible explanation for her problems, they were adamant that this would not be the case. We became quite frustrated by this response and never did establish why they kept asking a question that they considered to be irrelevant.

We soon realised that since Romana’s development was well behind that of her peers, we should start to think about the various options for her education. We were living in Dorset at the time and when Romana was three years old, we managed to get her a statement of special educational needs and she was given a place in a school for children with moderate learning difficulties.

She enjoyed school and transferred to another special school when we moved to Hampshire in 1996. Throughout this time, Romana remained a happy child, and apart from the usual childhood illnesses, she enjoyed exceptionally good health. Although we were still worried about her lack of progress (was it our fault in any way?), Romana was probably happier and healthier than the average child.

By the age of six, Romana was able to talk quite well and was making good progress with reading and writing. It was at this time that we made a very significant breakthrough. When we took Romana to see a new paediatrician for a regular developmental check, he immediately suspected that she may have Sotos Syndrome and referred her to Dr Trevor Cole. Although Romana has most of the clinical features of Sotos Syndrome, she does not have some of the characteristic facial features and Trevor Cole diagnosed her as a probable case of Sotos.

Although in some ways it was very reassuring that we now had an explanation for the delayed development, we soon realised that a “label” made no difference whatever to Romana and that she would continue to progress at her own pace and be the same happy child that she had always been.

Unfortunately, at about the same time that we had the diagnosis, Romana started to have epileptic seizures. The first fit was alarming and took us completely by surprise. She had a grand mal seizure that lasted almost half an hour and culminated in her stopping breathing and turning blue. That was the start of a series of fits that lasted for approximately two years, although none of the subsequent fits were as severe. Romana was prescribed Tegretol in an effort to control the epilepsy but she seemed to “grow out” of the condition and has now been completely free of fits for almost six years and no longer takes any medication.

Approximately two years ago we sent blood samples to Dr Rahman for genetic analysis. However, the genetic abnormalities associated with Sotos Syndrome could not be detected and Romana is therefore one of the many children who show clinical symptoms of Sotos but for whom a genetic cause cannot be found.

Romana is about to start her second year as a teenager and is now making up for her lack of verbal communication in her early years, with very firm opinions on many issues. Her rate of growth has slowed considerably and I suspect that her adult height will be approximately 5’ 9” and that her younger sister will probably be taller. Romana is still rather immature and tends to have little appreciation of potential dangers (traffic, strangers etc). She prefers the company of adults or much younger children but is a popular member of her class.

It is too soon to know whether Romana will be able (or wish) to live completely independently as an adult but we are now optimistic that she will be able to make informed choices and lead a happy and fulfilling life.

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