When Holly’s daughter entered early childhood, she noticed puppy fat around her daughter’s breast area. After much discussion, Holly and her partner decided to check it out. Little did they think that at 18 months, their daughter would be diagnosed with the onset of puberty. But this would not be the only diagnosis their family would receive.
Four months into our relationship myself and my now husband found out we were expecting another bundle of joy. Already parents to two girls each from previous relationships, at our 20 week scan we knew that our little baby was going to be another girl. This was confirmed by the sonographer and we were elated. Due to already having four girls we knew exactly what treats were in store for us and what to expect. Well, this is what we thought…………
Our daughter was born in March 2011 and we were simply over the moon. Weighing a healthy 8lb 10oz she was a normal chubby, bouncing baby girl and nothing seemed out of the ordinary. As she grew and started to become more active, her body frame started to slim down leaving her chubbiness behind. This is when we noticed what we thought was puppy fat around her breast area. Chatting to my husband and family members with daughters, it became apparent that maybe it was worth getting her checked out by a doctor.
Initially the doctor was not concerned but, as precaution, sent us along to the endocrine consultant at our local children’s hospital. We were not told anything by the GP just that he thought it was a condition called ‘Thelarche’ which is the onset of female breast development. We didn’t really think anything of it and thought maybe it was extra oestrogen that was exchanged at the time of our daughter’s birth.
When we were greeted by the consultant she weighed our daughter and also took her height. She agreed that our daughter was over the percentage she should be when it came to both of these measurements and quickly discussed a condition called Central Precocious Puberty. It wasn’t a long discussion more a passing comment and booked our daughter in for the following week to have blood tests to check her LH and RH levels to determine if she had the onset of early puberty.
This was such a distressing thing for her to go through at the young age of 18 months; however, we are so glad that we went with our gut instinct to get her checked as 5 weeks later she was diagnosed with the onset of puberty.
We were so devastated and of course started googling the condition and reading horror stories of how tumours pressing against the pituitary gland could be the cause. After the diagnosis, our daughter started hormone injections every 28 days and was sent for an MRI scan and a scan on her uterus.
This time for us all, as a family, was heart wrenching waiting to hear the results felt like weeks not days. The results came back and nothing showed up on the MRI; however, her uterus was the size of an eight-year- old girl. More bone scans were done on her wrist to check her bone development and yet again proved to be older than her years.
Our daughter is now 5 years old and is doing great, still visiting our local hospital for hormone injections every 28 days and has built up a great relationship with the endocrine nurses, she has almost become desensitised to the injections now and takes it in her stride. I tell her she has them because she is special and to keep her little. She does, however, still continue to have mood swings like a pre-menstrual teenager. She can lash out and has real trouble sleeping at night, which appears to be a side effect from her hormone medication.
She needs personal hygiene care during the night and can show some teenage girl traits; greasy hair, outbreaks of spots and body odour. Pubic hair has also become prevalent as time has gone on.
This condition has been hard to get a grasp of. There isn’t a lot of information online and all appear to be from American sources where they use different medications to medicate with.
Our daughter will stop treatment at the age of ten and hopefully go on to have a normal menstrual cycle, although I do worry what the future will hold.
This condition has been a big part of our lives and although manageable hit us with another bombshell in winter 2013. At the age of 7 and a half years, my biological daughter from my previous relationship came home from school telling me that she had found blood in her knickers. On closer inspection it appeared to be period blood. I was completely beside myself thinking, ‘not again, what have my family done to deserve this?’ Trying to hold back my tears and console my daughter at the same time was just unbearable.
I called the endocrine team who informed me that I would have to go through the GP for a referral. I am not going to lie, I was upset at this and wondered, that with another child with a rare condition and the same symptoms, why could they not just see us straight away?
After a GP referral, consultant appointment and blood testing our worst fears were confirmed; my daughter had started puberty at 7 and a half years old! After numerous discussions the consultant gave us a choice whether to let my daughter continue to menstruate or to medicate her with hormone injections. Apparently it’s considered normal for a child of eight years old to start menstruating.
We went home that day trying to fathom how to discuss this with my daughter. She hates needles and really was against the idea of monthly injections, however, as parents we felt like she wasn’t mature enough to have a period and have to deal with that every month (it’s bad enough for us as women). We all agreed that the best thing to do was to start treatment asap and her biological father agreed with this, too.
Obviously, being that much older than my younger daughter, I had to sit down and explain why periods happen. Something that I didn’t want to do at such a young age, however, it was appropriate for us as a family. Even my six-and- a-half- year-old daughter was intrigued.
My eldest daughter continued with the injections for two years but, unfortunately in November 2015, started bleeding again, breaking through the injection. It was decided that in my daughter’s best interest, she would come off the injections as she really did struggle with them, although they were moved to one every 11 weeks they just were not having the desired effect. This was due to her weight and height. She hasn’t had a period now since January 2016 but, her mood swings are all over the place. She looks a lot older than her years and her body shape is like a curvy woman’s.
Although this condition has been a big part of our life we cannot thank our lucky stars that we pop into the hospital once a month and get to bring our daughter home after her treatment, something that other parents aren’t so lucky with.
For Growth Awareness Week member, Laura, writes about her son, Samuel, who was born 11 weeks early. Most premature babies catch up so Laura never questioned Samuel’s growth until he was referred to an Endocrinology team, at age three, to monitor his growth rate.
On the 30th March 2011, 11 weeks before his due date and weighing 820grams (1lb 13ozs), Samuel made a dramatic entry into the world.
Two days earlier during a routine scan at Solihull hospital, the team discovered that Samuel was not growing and probably hadn’t done so for two to three weeks due to an absent end-diastolic flow. I was immediately transferred to Heartlands hospital in Birmingham where they promptly diagnosed that I was suffering from Pre-eclampsia.
Following a forty-five minute emergency caesarean section operation performed by an eighteen person medical team led by Mr Mike Wyldes, Samuel let out a small cry as he was delivered and ready for the fight that lay ahead. He was soon whisked away to the neonatal unit where he would take residence for sixty-eight days.
Samuel was extremely strong, having been placed initially on CPAP to support his breathing as a precautionary measure, he was breathing by himself within twenty-four hours. My condition however, got progressively worse, being diagnosed with HELLP syndrome, my liver was failing and my blood was not clotting properly.
After 24 hours, my condition thankfully stabilised and once able to prove to the midwives that I could get out of bed unaided, I was allowed to go and see Samuel. He appeared so fragile, his body covered in many wires and tubes. The nurses carefully took Samuel out of the incubator and placed him on my chest for some Kangaroo Care (Skin to skin contact). This was to become a daily routine.
We were warned that a premature baby’s journey in Neonatal was akin to a rollercoaster. During the first week Samuel did not tolerate breastmilk and had bile in his stomach. He was required to remain on Total Parental Nutrition (TPN) in which essential food is fed through long lines into a child’s body.
Two weeks after his birth, Samuel started to tolerate milk and the Doctors decided that they would remove Samuels TPN. Something was not right, I could see Samuels heart rate increasing and his temperature rising on the monitors. Then Samuel’s apnoea monitor sounded an alarm, Samuel stopped breathing. Emma, the neonatal nurse gently rubbed his back and he started to breathe again. However, Samuel stopped breathing again moments later, and having suspected an infection being caused from the TPN line, Emma had already summoned the doctor to assess Samuel and address his condition. The Doctors and nurses immediately placed Samuel back on to CPAP together with a course of antibiotics in order to fight the infection.
Samuel needed to gain weight, this would be a slow process and was always commented upon by doctors during their rounds. Whilst in the incubator, Samuel was fed breast milk which had been fortified. His weight soon increased, but once he weighed enough for a cot, his milk was no longer fortified. Unfortunately, whilst in the cot Samuel actually lost weight and the hospital assigned a dietician who decided that Samuel should consume High Energy SMA.
Samuel began increasing in weight with this new milk and was finally discharged from the hospital. Whilst at home, Samuel continued with High Energy SMA. Although not a great feeder and being sick often, Samuel did put weight on, finally achieving the 25th Centile.
Weaning Samuel was difficult and it was during this period we discovered he has quite a strong gag reflux. He would often be sick, even on pureed foods. We had to ensure Samuel consumed the correct quantity of food so as to not be sick. Nappy bags soon became a great form of sick bag (and we still carry them around today!), sick bowls would be placed in several locations around the house in case of an emergency.
Samuel’s Neonatal consultant closely monitored him, even though he was increasing in weight (albeit very gradually), his height was not increasing. We had always been informed that ‘catch up’ growth would probably happen in the first two years. Samuel never caught up with his peers.
At eighteen months old, Samuel was no longer taking high energy SMA and instead he was given Fortini supplements. This continued to make Samuel sick so we took the decision to stop the supplements. Samuel still had support from the dietician until the age of three, but as Samuel was at least eating regular meals, the dieticians felt there was nothing further they could do.
When Samuel was younger he struggled to fight off infections. When returning home from my first ‘back to work’ day, I noticed that Samuel was struggling to breathe and I took him straight to the GP’s who advised to take him straight to A&E if his condition worsened. That night was spent in A&E (a winter was never a winter without a trip to A&E).
At three years of age, the Neonatal Consultant referred Samuel to the Endocrinology team at Birmingham Children’s Hospital. We were really hoping that Samuel would be discharged from his care (by this time all of the other children who I had met while Samuel had been in hospital had been discharged). We never really questioned Samuel’s growth before this, we knew he was smaller but there were some possible explanations. Firstly, Samuel was born prematurely, secondly, both sets of grandparents are not particularly tall and thirdly we actually believed that he would ‘catch up’, he just needed time.
Samuel’s initial Endocrinology appointment was fine, a decision was taken to measure his height accurately for 6 months so that the consultant could monitor him on a height velocity chart to understand his growth rate.
During the next appointment, I felt Samuel had grown by less than one inch in 6 months. His health hadn’t been particularly great over the winter period. We discussed the next steps with the consultant and had to take the decision whether to start testing for growth hormone deficiency now or in 6 months time. We made the decision to start the testing right away.
The Stim test concluded that Samuel was Growth Hormone Deficient, so a second test was arranged, the arginine test. The results of the second tests resulted in Samuel being diagnosed as being Growth Hormone Deficient. On the 31st July 2015 Samuel was injected with his first dose of growth hormone. The decision for growth hormone centred on wanting to give Samuel an opportunity and if this did not work then we could be satisfied that this avenue had at least been explored.
The first three days were tough with many tears and tantrums. Honesty has been the best policy with Samuel by explaining to him why he requires growth hormone. Samuel is fantastic with the injections, taking all in his stride without a single complaint.
An MRI scan arranged by the Endocrine team discovered that Samuel has a small pituitary gland.
Samuel has now managed to be recorded on a growth line, although the 0.4th centile is was a level that he had never reached before. Samuel’s health has dramatically improved, no sudden trips to A&E (touch wood) and no need for the frequent use of inhalers.
Samuels weight is still of concern, having only gained three-and-a-half pounds in one year. We are trying to obtain another referral for a dietician and for a physiotherapist (as his gross motor skills are not at satisfactory levels, Samuel struggles to push the pedals of a bike).
Samuel is also being checked by a genetics team. A micro array test result was clear, the team are now testing for Russell Silver Syndrome.
Recently Samuel had his first operation in which two cysts removed from his mouth. He was incredibly brave and the hospital were fantastic.
Samuel is doing extremely well at school and he work very hard. However, he does often get frustrated with his peers because they are too young to realise that every one step of theirs requires two from Samuel and all of the various medical appointments or tests that Samuel has to endure. Other five year olds do not realise that by calling Samuel ‘small’ or ‘a baby’, it affects him and he’ll ask ‘Am I getting bigger? ’.
Samuel is now five years old and although he is currently diagnosed as being Growth Hormone Deficient, he is never disheartened and never gives up. A truly courageous and special little boy.
For IUGR Awareness Day (Intrauterine Growth Restriction) we are fortunate to have a guest post from Susanne Remic, GhostWriterMummy. For anyone who has read her blog, you will know that by talking about her pregnancy experiences and campaigning for better support, she helps countless others going through similar experiences. In recognition of this, she was a finalist at this year’s Tommy’s Awards for Mum’s Voice Award. This is her IUGR experience.
At 29 weeks gestation, we were told that our 4th baby wasn’t growing as well as had hoped. We’d had a growth scan due to previously having had two SGA babies, and the hospital had wanted to keep an eye on us as a result. We honestly thought that this growth scan would show a happy, healthy baby too, just like the others.
I remember that the air inside the doctors office felt so still as we waited for her to come through following the scan. I was perched on the end of a bed, feet dangling over the side. My husband was standing awkwardly, commenting on the lack of seats for dads. A normal day. Feeling normal. Smiling. And when the doctor swept into the room, we had no idea what was to come. There was no way we could have anticipated what she was going to tell us.
We’ll try and get you to 34 weeks.
We’ll deliver via c-section and baby will go to special care.
You’ll need to come back every two weeks to monitor growth.
I felt the room slide. The air was rushing from the room and the words weren’t making sense. But I was supposed to be having a VBAC! I wanted to go the whole hog- 42 weeks was the norm for me. Not 34! This baby was supposed to be small, but perfectly healthy. None of this was supposed to happen this way!
When we left the hospital, I started to google low birth weight babies and four little letters kept popping up over and over again. IUGR. Horror stories of tiny babies, too small to fight to be alive. Too weak. Born too early. I searched for blogs to read so that I could get a better understanding of what we were facing. I joined IUGR support groups on Facebook. I craved information but there was really very little that anyone could tell me.
At our next scan we were told that reduced blood flow was depriving baby of essential nutrients and oxygen, and this was probably the reason why she wasn’t growing. We were told to come back weekly so that they could monitor us closely.
Medically speaking, the care we were given was second to none. Emotionally, I am still paying the price today, 18 months on.
Google was not a good place to be. As my hand rested on my tummy and I willed my baby to move, Google was most definitely the very worst place to be. I read story after story of babies born too early and too small. Babies facing a lifetime of disabilities. Babies who never made it home. And as each growth scan showed us a baby that still was not growing well, the fear and anxiety we felt began to escalate. Nobody could give us any answers and while we understood the reasons why, we were still frustrated and scared.
If our baby was going to need special care, how would we know where that ward was in the hospital? What would happen in there? Would I be able to stay? Would we be transferred to a different hospital closer to home? Would there be any lifelong disabilities for our baby? Why was she IUGR? Was it something I had done wrong? The medication I took to stop the sickness? Did I eat the wrong thing? Too much? Not enough? Should I rest more? Or move more? Should I prepare for the worst? Was my baby even going to make it? Was there a genetic reason for her IUGR? Would there be something one, maybe even two years down the line?
And while our questions couldn’t be answered, we had nobody to even ask them to. Nobody to hold our hand. Nobody to tell us we’d be ok. Nobody to listen.
The IUGR support group on Facebook literally saved my sanity. Writing about my pregnancy helped so much too. Not only was it an emotional release for me, but it encouraged other women to get in touch and tell me their stories too. Some babies made it, and some didn’t.
I had to focus on MY baby. Getting through to 34 weeks, and then to 37. That first cry in the operating theatre as she was plucked from my body. That first feed. That first smile. First laugh. First steps. First word.
She is here. We are here. And we are slowly finding support too.
There is now a UK Facebook group for parents of IUGR babies and I hope that the members find it of comfort during what can be a terribly lonely and confusing time. There is also the Child Growth Foundation, a charity who reached out to me recently to provide support and advice. The support is out there if you know where to look. I hope to be able to signpost that information and support so that other families that walk this path do so with a light to guide the way. IUGR can be a terribly lonely and frustratingly scary path; I don’t want other families to walk it alone like we had to.
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.
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.
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 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.
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