Diagnosing Silver-Russell Syndrome

Diagnosing Silver-Russell Syndrome

Diagnosing Silver-Russell Syndrome

Getting a diagnosis of a rare condition, such as Silver-Russell Syndrome can be a drawn-out process. In the UK, it can take over four years, on average, to get an accurate diagnosis of a rare condition. This can be a frustrating time for parents, and all concerned. It can also be a time of wrong-turns, dead-ends and misdiagnoses. It is crucial to get the diagnosis right, as the diagnosis often determines management and support options.

Diagnosing SRS poses particular problems as there is often a large overlap of SRS symptoms with many different conditions. A crucial breakthrough in Poblet, Spain, in 2015 saw 36 leading international SRS specialists agree, by vote, and representatives from patient support groups, including the CGF, the elements that are distinctly SRS. And a year later the conclusions of this meeting were published as the First International Consensus Statement regarding Silver-Russell Syndrome. Consensus statements are vital for increasing understanding and awareness of rare conditions, which greatly improves the diagnosis process. The consensus statement regarding SRS recommended using Netchine-Harbison Clinical Scoring System (NH-CSS) as a tool for clinically diagnosing SRS.

Consensus Statement

A consensus statement is a public statement on a particular aspect of medical knowledge, agreed by a representative group of experts to be evidence based, they are vital for increasing understanding and awareness of rare conditions, which greatly improves the diagnosis process. The consensus statement regarding SRS recommended using Netchine-Harbison Clinical Scoring System (NH-CSS) as a tool for clinically diagnosing SRS.

What is the NH-CSS/How Does it Work?

The scoring system identifies six factors (clinical criteria) that are considered statistically strong indicators of Silver-Russell Syndrome. It actually works by statistically ruling out Silver-Russell Syndrome and therefore, if it can’t be statistically ruled out then SRS becomes a strong possibility. If the patient scores 3 or less out of 6 they are determined not to have a clinical diagnosis of SRS (however a score of 3 can result in continued clinical suspicion). The scoring system is relatively straight forward, it is a score of 1 if that indicator is present, and it is a score of 0 if it isn’t. The end result is a score out of 6, which makes it easy for a physician to interpret and is flexible enough to allow for some missing information.

What are the Six Clinical Criteria?

SGA (small for gestational age – birth weight and/or birth length)

SGA is a term given to a baby that is born smaller than normal compared to other babies born at the same gestational age (read more).

Score a point if: the baby is equal to/or less than 2 standard deviations (SDS) below average. Standard deviation is a measure of how spread a measure is around the average (or mean), in this case weight and/or length of babies born at the same gestational age. This would mean the baby is in about the smallest 2% of all babies born at that gestational age.

Postnatal growth failure

Is a term (and not a great one, because you haven’t failed at anything!) used to describe babies that are not growing as expected/normal following birth.

Score a point if: the baby’s height at around 24 months is less than 2 standard deviations below the average for babies at the same age. OR the baby’s height is 2SDs below the mid-parental target height.

Bell Curve explaining SDS

Standard Deviation

Standard deviation is a number used to tell how measurements for a group are spread out from the average.

The lower the number, the closer it is to the average, the higher the number the further it is from the average.

The bell curve above shows that 2SDs (the dotted lines) below the middle point represents around 2% of the population.

Relative Macrocephaly at Birth

Macrocephaly means your baby’s head is larger than other babies of the same sex and same age, measured by head circumference. Relative macrocephaly considers the size of your baby’s head against their weight or length.

Score a point if: your baby’s head circumference at birth is equal to/or greater than 1.5 SDS ABOVE their birth weight and/or length SDS. For example, if your baby’s birth weight was -2SDS and their head circumference was -0.5SDS then they would score a point.

Protruding Forehead

Also known as frontal bossing, this is where your baby’s forehead sticks out beyond their face when looking at them side on.

Score a point if: your child has a protruding forehead between the ages of 1 to 3.

Body Asymmetry

This is where all, or part of one side of the body is smaller than the other.

Score a point if: there is a leg length discrepancy (LLD) of 0.5cm or more or, there is arm or leg discrepancy that is less than 0.5cm but two other parts of the body are asymmetrical.

Feeding Difficulties and/or Low BMI

Body mass index gives a figure that compares weight against height, and in children also considers age and gender. It is used to give an idea of how healthy your weight is.

Score a point if: the BMI score is equal to/or less than -2 SDS at 24 months old. Or, score a point if your child is using a feeding tube.

Clinical Diagnosis

If the child being examined scores 4 or more on the NH-CSS then it is recommended they have genetic testing. The genetic testing may confirm Silver-Russell Syndrome. However, the testing might come back “normal”, which means no genetic cause has been found.

If this happens then the score of 4 or more on the NH-CSS can be used to give a clinical diagnosis of SRS, BUT only if the clinical criteria that scored a point includes BOTH protruding forehead and relative macrocephaly at birth. The large head in relation to weight at birth is a distinguishing characteristic of SRS that almost all SRS children have. But macrocephaly can be present in other conditions too, which is why it should be used as an indicator of SRS unless other clinical criteria have also been identified.

Get in Touch

If you have any concerns regarding any of the above, or want to chat to us about it, please get in touch:

Email Us or Call us on: 0208 995 0257

Silver-Russell Syndrome Height and BMI Study

Silver-Russell Syndrome Height and BMI Study

New Silver-Russell Syndrome Study

Latest research supports the use of growth hormone treatment in Silver-Russell Syndrome for increasing height SDS (standard deviation score). Growth hormone treatment was also associated with lower adult BMI which may reflect improved metabolic health even following discontinuation of therapy.

The observational study collected height and height gain data, plus BMI data, from 71 people diagnosed with Silver-Russell syndrome.

Click below to read more about the study

Height & body mass study in Silver-Russell Syndrome

 

Or click HERE to find out more about Silver-Russell Syndrome.

Investigating Behaviour in Silver-Russell Syndrome

Investigating Behaviour in Silver-Russell Syndrome

Investigating Behaviour in Silver-Russell Syndrome: Research Summary

by Chloe Lane, Louisa Robinson, Megan Freeth

Megan Freeth, Chloe Lane & Louisa Robinson

 For the past year, we have been conducting a study to investigate behavioural characteristics observed in SRS. The study involved a play session/semi-structured interview which was used to observe how children play with different toys, their ability to tell stories and how they communicated with the researcher. For older children and adults, this was an informal conversation to find out about things such as friendships, hobbies and school/work. The study also involved completing a few different activities to assess skills such as language, memory and problem solving. We finished visiting families in October 2018 and in total, we saw 15 individuals with an mUPD7 diagnosis and 18 individuals with an 11p15 diagnosis. This was slightly more than our original target so we are extremely grateful to all of the families who took part in the study and made it possible. The findings from the study have been written for publication in a scientific journal and as soon as the article is published, we will share this with the CGF. Below is a summary of the main findings from the study.

Autistic behaviours are broadly defined as having difficulty with social interaction and social communication, as well as displaying restricted interests and repetitive behaviours. Previous research has indicated that autistic traits may be more common in SRS than in the general population. In particular, it has been suggested that individuals with an mUPD7 diagnosis are more likely to display autistic traits, with some also having a diagnosis of an autism spectrum disorder (ASD). Although this research has indicated that autistic traits are common in SRS, the nature of these behaviours has not been assessed in a systematic way, using standardised measures. Therefore, the aim of our research was to use both a gold-standard behavioural assessment and a questionnaire, completed by a parent/caregiver, to identify autistic traits associated with SRS 11p15 and SRS mUPD7. A further aim of the study was to assess cognitive abilities associated with SRS 11p15 and SRS mUPD7. Autistic traits were assessed using the Social Responsiveness Scale, second edition (SRS-2) and the Autism Diagnostic Observation Schedule, second edition (ADOS-2). Cognitive abilities were assessed using the British Ability Scales, third edition (BAS3). Participants in the 11p15 group ranged in age from 4 – 15 years and in the mUPD7 group, participants ranged in age from 8 – 28 years.

In relation to autistic traits, the findings from the questionnaire (SRS-2) indicated that 53% of the mUPD7 participants and 45% of the 11p15 participants were reported by their family member as having some difficulty with social skills and restricted interests/repetitive behaviours in daily contexts. The level of difficulty with these behaviours varied between the groups, with 38% of the mUPD7 participants reported as having significant difficulty with these behaviours, compared with 11% of the 11p15 participants. Furthermore, the level of difficulty with social skills did not differ between the groups but the mUPD7 group were reported as displaying more difficulty with restricted interests/repetitive behaviours. Overall, this suggests that autistic traits are more common in both SRS mUPD7 and SRS 11p15 than in the general population but that these traits seems to be more pronounced in SRS mUPD7. In particular, these individuals may struggle with restricted interests and repetitive behaviours.

Autistic traits were also assessed using an in-person assessment (ADOS-2). The ADOS-2 provides an opportunity to observe whether an individual displays difficulty with social skills and restricted interests/repetitive behaviours in a semi-structured context. The findings from this assessment supported the findings from the SRS-2, with 33% of the mUPD7 group and 11% of the 11p15 group displaying autistic behaviours during the assessment. Once again, this indicates that individuals with an mUPD7 diagnosis are more likely to have difficulty with autistic behaviours. It is important to note that in both groups, a number of individuals did not display these behaviours. Therefore, clinicians should be aware of this increased likelihood of ASD in SRS but consider on an individual basis, whether a full assessment for ASD would be appropriate.

Cognitive abilities were also assessed in order to identify the overall ability of individuals with SRS and whether individuals show consistent strengths and difficulties with specific aspects of learning. Each participant completed several different activities which provided a general conceptual ability (GCA) score. This is equivalent to an IQ score and in the general population, a score of 100 is average. In the 11p15 group, the average GCA score was 99, with scores ranging from 62 (below average) to 140 (above average). This distribution of scores is typical of the general population, indicating that learning is not affected in individuals with SRS 11p15. In the mUPD7 group, the average GCA score was 80, with scores ranging from 57 (below average) to 91 (average). The average score for this group is lower than the general population and the majority of participants had scores in the borderline range. This means that although they do not have intellectual disability, their scores tended to be slightly below average. This indicates that individuals with mUPD7 may have more difficulty with learning than their peers and that additional support in school may be beneficial. Once again, this should be considered on an individual basis. In both groups, there was no evidence of consistent strengths and difficulties between individuals, in relation to the cognitive abilities that were assessed. 

Conclusions

In summary, the findings from this study indicate that some individuals with SRS have difficulty with autistic traits and these tend to be more common in individuals with SRS mUPD7. It is important for families and clinicians to be aware of this increased likelihood of ASD as, in some cases, a full assessment for ASD may be appropriate. In addition, individuals with SRS mUPD7 may be more likely to have difficulty with learning, compared to their peers so it is important to consider whether additional support with learning and development may be useful. It is important to note that there was variability within each group, indicating that some individuals may have more difficulty with autistic traits or learning than others. Therefore, a referral for additional support or services may be beneficial for some individuals with SRS but not required for others.

The Road To A Russell Silver Diagnosis

The Road To A Russell Silver Diagnosis

This blog post, written by Ceri, documents her daughter Lyla’s first three years. It was a long and scary journey with repeated hospital stays, but eventually, with a lot of persistence, a RSS diagnosis was made.

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

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

Lyla at 3 days old

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Living with Russell Silver Syndrome

Living with Russell Silver Syndrome

Georgia’s 18th birthday

In this blog post, written by Jenny Child who works for the CGF, she talk about her daughter, Georgia. Georgia turned 18 last year and this piece details her RSS journey so far.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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