Jamie’s London Mini Wheelchair Racing Challenge

Jamie’s London Mini Wheelchair Racing Challenge

Jamie racing for team GB in Brazil last year

Jamie Edwards is racing in the London Mini Wheelchair Marathon to raise funds for us. Here his mum, Wendy tells us more about Jamie’s amazing achievements and why he is raising money for Child Growth Foundation.

Jamie is 16 and has cerebral palsy. In 2014, he started wheelchair racing and after taking part in his first Race 6 months later he was immediately hooked. That race was the London Mini Marathon. Since then Jamie’s racing career has gone from strength to strength. He just came back from Brazil racing for team GB, with 3 gold medals!

This will be Jamie’s 3rd year racing in the Mini Marathon, and he has decided to race it for the CGF. This is because they have really helped his sister Amber. Amber was much smaller for her age than was expected. When she was 10 her teacher said she needed a special chair for the class as she couldn’t reach the desk. Also, she was wearing aged 5 clothes! So I contacted the CGF as I wanted some advice.

I had tried to talk to paediatricians in the past but they had told me not to give Amber a complex. After talking to the CGF I realised Ambers growth was not normal, and they advised me to take Amber to an endocrinologist. This is where my fight began! Without their help and support, I would have given up. 2 years later Amber started Growth Hormone. This wouldn’t have happened without the help from the CGF.

Jamie and Amber

Jamie has seen how the treatment has really helped Amber and wants to raise awareness of the CGF and help raise a few pounds in the process. Jamie hopes to beat his previous time in this marathon, which was just over 17 minutes, and also hopes that this will mean he will hold the record in his Classification! (Different disabilities have different classifications). Jamie is classed as a T33. Fingers crossed to breaking a record!

All of us here at CGF wish Jamie the best of luck and want to thank him for his amazing fundraising efforts. We hope he breaks that record! His fundraising page can be found here.

Can you help us with a Sotos Syndrome Study?

Chloe Lane is studying for a Ph.D. at the University of Sheffield. She is looking for both children and adults with Sotos to take part in a research project to find out about the cognitive abilities of individuals with Sotos Syndrome.

The study will involve using a number of different tasks to measure abilities such as remembering information, understanding a conversation and making patterns.

All individuals who take part will be given detailed feedback about how well they performed in each of the tasks and this report can be given to teachers, employers or anyone else who would benefit from having a clear understanding of the cognitive strengths and weaknesses of the affected person.

She is hoping to recruit as many people as possible so that we can gain a really good understanding of the cognitive profile of Sotos syndrome. Once the research has finished, she intends to produce a detailed overview of the findings which can then be given to schools. This will help teachers to understand what to expect from a typical Sotos child when they first start school or move to a different school. For more information or to take part please click here. You can also email Chloe who will be happy to answer any questions: clane2@sheffield.ac.uk.

Diagnosing Sotos Syndrome

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.

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.

Fighting for A Growth Hormone Deficiency Diagnosis

Fighting for A Growth Hormone Deficiency Diagnosis

This is Jake’s story as told by his mum, Faye. It was at 8 months old, when Jake started nursery, that Faye believed that he could have a growth condition. It was a fight for Faye and her husband to be taken seriously, but through perseverance Jake had his first consultation at two years old.

Our story began in April 2008 when our baby boy, Jake was born. He was 2 weeks overdue and weighed only 5 pounds and 13 ounces. We were a little surprised he was so tiny given how late he was and we had to rush round and get tiny baby clothes rather than the regular ones. Aside from the fact Jake had mild jaundice; we were not too worried as the paediatrician did not think it was a problem. He actually stated that it was good as Jake was unlikely to be ‘obese’.

Jake had quite bad colic which lasted to 12 weeks. Nothing seemed to work for him. We now believe that Jake had silent reflux as this is quite common with small babies, but this was never discussed with us. He also struggled to eat when the time came to wean him. He was simply unable to tolerate lumps. We had to keep pureeing his food. Again, we believe now that this was also due to his small size.

Jake started nursery when he was 8 months old. At first we didn’t realise how little Jake was, but when the other babies the same age as Jake began to walk and Jake didn’t, we had an inkling something was not right. Although Jake was very bright, he was always slightly behind his friends in the physical aspect — the last one to hold his head up, the last one to sit up, and he finally began walking at 16 months. This was the time that Jake was due to move into the ‘toddler’ room at nursery from the ‘baby’ room. The staff kept him back in the baby room for a little longer than normal as he was so small compared to the other children. This is when we raised the issue with one of Jake’s health visitors.

The first health visitor we went to was ok — not overly eager to measure him, but when she did he fell more than two standard deviations below his projected percentile range, she agreed he should be referred to a paediatrician. However, a referral would not be made until he had two measurements, so the health visitor advised that we should return a month later for Jake’s next measurement. We had also booked an appointment with the doctor to discuss Jakes eczema. I raised the issue there and was simply told “don’t worry, Tom Cruise is short but he has done OK”. This is where our trouble began….

I took Jake back a month later but the health visitor refused to measure him. She said that there was nothing wrong with Jake and that ‘unfortunately he has taken after me’ — I am only 5 ft tall. When I stated that I was simply there to have Jake measured as instructed by the previous health visitor, she told me that not enough time had elapsed anyway and there needed to be a gap of at least 3 months between measurements. To cut a long story short, we went back several times and several times she refused to measure him saying the same and that there is nothing wrong with Jake. However, one day my husband took Jake along and the health visitor had a trainee with her and she told my husband that if we didn’t believe her, we should look on the Child Growth Foundation website where it will tell us that there is nothing wrong with Jake. This is the first time she ever mentioned the Child Growth Foundation and we believe that she only mentioned it as she had a trainee with her. But this is where we got the first glimmer of hope.

I am a naturally curious person and I will research something as far as I can. So rather than check the website, I emailed the Child Growth Foundation with Jake’s details. I soon received a reply from Jenny Child stating that given Jake’s details, he should be referred to an endocrinologist. I firmly believe that if we had not got that reply from Jenny, we would not be where we are today (which you will hear about in a bit!). I had done some research on child growth disorders and as Jake had no other apparent symptoms; I believed that he was an SGA baby (Small for Gestational Age). I looked into all the different hospitals in the area and what each endocrinology department specialised in. Here I came across the Royal London. Rather than take this information to Jake’s doctor, I called the hospital personally. I have to say, the secretary there was fantastic. She took all Jake’s details and passed them onto one of the consultants. She called me back to say that Jake definitely fitted the criteria for a referral and she gave me the consultant’s name and fax number.

Both my husband and I attended an appointment with one of our GP’s armed with all the research we had. When we asked for a referral to an endocrinologist, the GP laughed at us and asked us what one was, implying that we had no idea what we were talking about. So I gave her all my research and she just stated that the Royal London was out of our area so she couldn’t refer Jake there. She said that she could refer Jake to a paediatrician but that they wouldn’t do anything as children under the age of 13 are not treated with growth hormones. So we contacted the Royal London again and they confirmed that they are treating children from 18 months upwards and that they do have referrals from our area. They advised that we should make a complaint which was exactly what we did and we got our referral for Jake.

So we ended up seeing the consultant when Jake was two years old. The consultant agreed that Jake was far smaller than he should be but that he may have some catch up growth but they would monitor this. If he had no catch up growth by the time he was four years old, growth hormone treatment could be considered.

So in February 2012, just before Jake’s fourth birthday, we took him to the Royal London for a glucagon stimulation test. This is where glucagon is injected and then blood is taken every half an hour and this is designed to measure how much growth hormone the pituitary gland is capable of making. We were dreading this, but Jake handled it really well and it was just the hunger and the boredom for all of us that proved to be a pain!

Four months later, we took Jake back to the Royal London for the results of his Growth Hormone Stimulation Test. My husband and I (well, more me…) got hyped up ready for a battle. We were convinced that Jake was going to be borderline deficient and therefore wouldn’t qualify for treatment. The doctor was fantastic and told us straight away that the test showed his pituitary gland produces ‘subnormal’ amounts of growth hormone. And because he was also an SGA baby he qualified for treatment on two counts, and he only needed to qualify on one count to receive treatment.

Then came the question and answer session with the doctor — does the treatment carry any risks, what are the side effects, does it hurt etc. We were very pleased with the answers we got. There are very few, if any, risks or side effects, and it is like a little pinch. Lovely Lee, our Endo nurse, gave us four DVD’s to take home and watch to decide what injection device we would like to use for Jake. Talk about too much information! Right away we were keen on the Easypod. I liked the fact it was a gadget that made everything really simply. You just programme in, insert a needle, inject, and take off the needle. We thought it would make it really easy for Jake’s Nana’s.

I had thought that GHD only affected height but it affects so much more — bone and muscle strength, cardiovascular system, delayed puberty, increased fat, increased cholesterol. This made a lot of sense. Jake had always struggled with walking and constantly complained of his legs hurting. We initially thought that he just didn’t want to walk anywhere. But Jake was visibly distressed and I now know that his legs were simply not strong enough. He also started getting eye infections that would not go away despite lengthy courses of antibiotics.

Having learnt all that, it makes me really angry that we had to fight the health visitor and the GP all that time ago. We were treated like neurotic parents and it’s only because I did my research that we are where we are today.

After my initial euphoria, I was left feeling quite emotional and sad for the fact that Jake would have to have injections every night for years and that if he didn’t, he could become quite poorly.

A month later, we began Jake’s injections. The first few days were extremely traumatic. Jake hated the injections and was physically frightened of me when I had the Easypod in my hands. It really is horrendous having to hurt your child — even though I knew it was the right thing to do; it went all against my instincts and was so hard. But I had established a good network through the Child Growth Foundation and we were given lots of tips to make things easier for us including distraction techniques. I opted to hide some ‘treasure’ (sweets) so that after his injection, he had to go and find them which took his mind off the injection. This did work well. Even though Jake would cry the whole way through the injection, this would be short lived and he certainly wasn’t traumatised.

Jake has now been on injections for three and a half years. He has totally transformed. He was a tired boy lacking in energy and not remotely boisterous which we had put down to just his character. Now he is lively and energetic — he loves riding his scooter, has learnt to ride his bike and even wants to go for runs. One of his most favourite things is playing fighting games with his dad.

Whilst he is still not tall, he is no longer the smallest in his peer group. He has gone from the 0.4th percentile to the 20th percentile. He rarely gets ill now and has had no more eye infections since he started on the injections.

We have so much to thank the Child Growth Foundation for. Without their support, I am convinced that Jake would not be the child he is today. They supported us through the referral stage and then supported us through the initial stages of treatment. They are always there for us and we will be forever grateful for the amazing work that they do.

Can You Help Us With The STAARS UK Research Project?

This piece is taken from our newsletter. There is currently a Study of Adults and Adolescents with Russell Silver Syndrome in the UK (STAARS UK) that we desperately need help to recruit for. It details why this vital research is being carried out and how you can help.

Dr Kemi Lokulo-Sodipe

The STAARS study has been taking place in Southampton for some time now.

I cannot emphasise how important this research is. For many years we have heard from patients and parents that there is no information available about adults and RSS. When Georgia was younger and even now, we often wonder if she will have any specific problems and if she will have any long-term problems. It would be so much easier if we had answers, we would know about treatment options and many other questions could be answered. The only way to find this out is to do research, which is what STAARS is all about.

Just this morning, I took a call from a lady who was inconsolable because she had had a letter from her son’s paediatrician saying, they think he could have RSS. She was desperate for reassurance and information about how her son will be affected and if he will grow beyond 5”. I could reassure her to a point, but hopefully following STAARS, we will be able to really make a difference and take some of the worry away.

We cannot get these answers if we do not recruit enough participants, so, if you are 13 years old and above, please consider taking part.

Kemi and Lisa would love to meet you, so please get in touch. You can either contact me or contact Kemi or Lisa directly for more information.

There is an added incentive to patients who have not been genetically diagnosed with RSS. Many adults have never been tested, because testing wasn’t available.

Many centres in the UK are involved, so you don’t have to travel to Southampton; You can also go to: Birmingham, Manchester, Oxford, Cambridge, St Georges — London, Liverpool, Newcastle, Exeter, Northwick Park, Bristol and Cardiff.

All expenses will be covered.

Jenny Child (Membership & Communications Manager and Mum to Georgia — RSS MUPD7)

Professor Karen Temple

Why are we carrying out this study?

Following many conversations with Prof Karen Temple we indicated that research to increase information on long-term health issues and growth is a priority as there is little information in confirmed RSS. The main aim of the study is to gather a group of people with RSS, to collect information on long-term outcomes so that data are available for families, which we hope will help in their decision making about treatment. For example, it is well-established that poor growth in the womb and in early childhood increases the risk of heart disease and related disorders in adulthood but does this happen in RSS?

Would you like to share your experience of what it is like to live with Russell-Silver syndrome? If so, we would really like to hear from you.

We are collecting this information to help families make decisions about treatment, so your participation could make a real difference. We have started interviewing participants and need to recruit about 30 people with RSS by April 2016. There is no need to travel; our researcher will come to your home or a place near where you live to conduct the interview. This study is part of ‘The study of Adults and Adolescents with Russell-Silver Syndrome’ at University Hospital Southampton.

Lisa Ballard, Researcher

The interview will take about one hour and will be conducted by Lisa Ballard, our Qualitative Researcher.

We will report the findings of this study in academic journals and directly to the CGF.

Dr Kemi Sodipe is still recruiting to the STAARS study on long-term health issues and growth in RSS, which includes a discussion, an examination and some tests. If you are interested, we could arrange an appointment at your nearest genetics centre.

For further information on both studies, please contact:

Jenny Child — jenny.child@childgrowthfoundation.org who will post information leaflets with full details. Alternatively, please contact the STAARS team directly on: STAARS@uhs.nhs.uk. There is also information on the website