Virtual Convention 2020

Virtual Convention 2020

Virtual Convention 2020

In October we delivered our (un)usual annual convention, which means that traditionally, on these pages, we bring you gloriously amazing pictures of fancy dress frivolity featuring superheroes, Disney characters, festival hippies and so much more. This year, we bring you a zoom meeting…

Yes, it was different. Yes, it was COVID and yes, it was lockdown. But we made the best of it! We were actually very nervous about it. We had some fabulous speakers and presentations lined up. We had the wonderful membership family ready to engage. We had an army of volunteer support. But what if the technology lets us down? What if broadband breaks? What if Zoom melts?

What if Neil sent out the wrong link for the first day of the Convention and only discovered the error half an hour before it was due to start! Surely, that would never happen – erm, well yes it did, and he is still very embarrassed about it!

That hitch aside it all went swimmingly well. All three days were thoroughly engaging, interesting and informative. We shouldn’t really be surprised. The Child Growth Foundation is built on connecting parents & families with each other and with the very best experts in the field. And that is what we did again. Fantastic speakers but more importantly all those who attended came wanting to learn, wanting to ask, and wanting to share. We all agreed the lack of the physical togetherness was a shame, but do you know what – it still felt a very close and intimate day, it felt like we all connected and it turned out to be a very personal, and enjoyable few days.

A Convention, but not as we know it…

Saturday 24th October – SRS/IUGR/SGA

The first day covered SRS/IUGR and SGA and was kicked off by a live Q&A session with Dr Justin Davies, that could probably have gone on all day! It didn’t, which is just as well as there were some fabulous talks lined up. Dr Helen Storr provided an update on the GRASP project findings and Dr Deborah Mackay gave us an overview of genetic diagnosis of SRS and SGA, as well as an update on the SRS research study the CGF is currently funding. We broke for lunch, and some left their cameras on so we could see what they were having! Before we all returned for an afternoon that explored adult health issues in SRS with Dr Karen Temple and cognition and behaviour issues in SRS with Dr Megan Freeth. The day finished with a group chat.

The support from the speakers was fantastic, some were recorded and some were live and we have to say a huge thank you to Dr Temple who was actually on holiday, well coming home from holiday, and following her recorded presentation came on live from her car on the motorway (she wasn’t driving!) to answer questions. It was amazing of her to give that time to us, and we were delighted to see her get home safely and be welcomed home by a very excited puppy!

Dogs were quite a theme of the three days, with many zoom-bombing pooches stealing the limelight of the talks!

Saturday 31st October – GHD & MPHD

Day two covered GHD and hypopituitarism and again, was very well attended. It was opened by the wonderful Dr Harshini Katugampola with the fabulously titled presentation “It Takes Two to Tango” which covered growth and puberty.

This was followed by a live, and very hands on, presentation by Endocrine Specialist Nurse, Claire Westcott, who talked about emergency adrenal crisis, sick day rules and management. This session walked us through how to inject, with live demonstrations involving oranges and out of date medical equipment! The oranges felt no pain from the injections but sadly, the medication was out of date so no discernible growth benefit was recorded!

After lunch Dr Helena Gleeson provided a much-needed guide to transitioning to adult services and after that Nurse Specialist Helen Smart gave a thorough overview of management and treatment options for GHD & hypopituitarism . The day was again finished off with a group chat that ended with an impromptu musical performance!

Saturday 14th November – Sotos Syndrome

The third day of our convention focussed on Sotos Syndrome and opened with a presentation by Dr Megan Freeth on cognition and behaviour issues. After a short break we returned to hear a super introduction to Sotos Syndrome from Dr Kate Tatton-Brown, followed by many, many questions.

Then came the amazing double act of Dr Alison Foster and Dr Alice Welham who took us through Sotos syndrome the pre-teen years and then Sotos syndrome the adult years. It was a really well-developed programme that gave attendees much opportunity to discuss concerns, and the speakers hung around throughout, answering questions and providing guidance. The third day was incredibly well attended and the group chat to finish the event went on for some time with a great deal of bonding and peer support. We received a lot of offers of help to build up our Sotos support network and we are incredibly grateful and look forward to what we can build.

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.