Robert is an undiagnosed child. Multiple Pituitary Hormone Deficiency has been identified as a part of his condition and treatment is able to be given for this. Here his Mum tells us about Robert’s first year.
I had a problem free pregnancy and at 35 weeks I was stood talking to a colleague when I realised my waters had broken (like something from a comedy film) and I should possibly go and be checked out at the local hospital.
That night our beautiful boy was born and despite arriving safely he stopped breathing and had to be whisked off to the Special Care Baby Unit.
Once I was sorted out and on the postnatal ward I sat there for hours with a little instant picture of Robert, on my drip, being brought cups of tea and toast. I kept asking to go and see him. I kept being told that a doctor wanted to come and speak to us. I was totally naive at this point,oblivious to the fact this could mean something bad. I also remember being elated to get my own room, but with hindsight this was probably also not a good sign.
A Neonatal Consultant and the nurse looking after Robert that day came to speak to us, as soon as they arrived I realised the game had changed. We were told Robert had deteriorated and was needing a lot more support from the ventilator. He was also floppy, they suspected a brain injury and were cooling him to prevent it getting worse. He looked a bit unusual and they thought he probably had some sort of syndrome. The future for him was uncertain, he might have profound disabilities or he might be relatively “normal”. Nobody could say and it would be a long road before we got any answers.
The consultant delivered the news so clearly and so well but I think my heart broke into a million pieces during that conversation. The fact that Robert was going to face a lot of challenges did not really sink in, I just wanted to know if he was going to live. There was no worries about that.
I wiped my tears and realised I needed to see Robert. A kind healthcare assistant got me sorted and wheeled me down whilst my husband called our families to update them.
I saw Robert lying in his little babytherm cot so small and helpless and cold and I loved him more than anything in the world.
In the next few days instead of the predicted improvement everything got worse and I was scared at one point as the doctors seemed to really be scratching their heads. The plan of getting him off the ventilator was not working, he needed to be switched to the oscillator as he was struggling so much. His blood pressure was very low, and it would only remain stable with cortisol. Robert was tested for various conditions, some horrifying, none with a great outlook, and these tests had all come back negative. A blood test showed his T3 (thyroid levels) were rock bottom which is when a pituitary issue was first suggested. I didn’t know anything about pituitary glands apart from it was something to do with puberty from year nine science. We had a lot to learn.
A doctor who is now Robert’s Endocrine consultant came into the Intensive Care area one day. I stood there baffled as she said she thought Robert had an issue with his pituitary gland, and if medications were given he would be able to breathe without the ventilator. I must say I was a bit dubious but a few days later he was back on a normal ventilator, instead of the oscillating one, and then one day when I went in I was told he had pulled out the ventilator tube whilst the doctors were trying to get blood. When he was nine days old I was finally able to hold him for the first time.
In the next few weeks the massive improvement we had been expecting didn’t come. He was still working hard to breathe and tube feeding was a nightmare. At this point his endocrine issues were stable apart from the fact he kept becoming hypoglycaemic so it was decided he should start on Human Growth Hormone and this seemed to do the trick with stopping his hypoglycaemic episodes. It was hard to inject such a tiny, skinny baby but it has quickly become part of our routine.
After 8 weeks in SCBU Robert was transferred to the respiratory ward in the Great North Children’s Hospital. This was excellent preparation for coming home and we started to feel like he was truly our baby as we were fully responsible for him.
He got home just before Christmas 2014 after 81 days in hospital but that wasn’t to be our happy ending. At this point he had a nasal pharyngeal airway (a tube we had been taught to put down his nose), as it had been discovered his upper airway was floppy. This was a nightmare to look after at home and to be honest he was still quite poorly. He was readmitted in the January and it became apparent a tracheostomy was the best option for him. We were horrified at the prospect but it has been the best thing for him being able to breathe well he was finally so happy.
He has been through another op, a Nissen’s fundoplication to stop him vomiting all the time and had a mickey button (a feeding tube into his stomach), which again whilst very worrying has helped him enormously. Not constantly being sick means he has gained weight and his development has come on in leaps and bounds.
Robert finally was able to have an MRI scan of his head, which showed his pituitary was not formed correctly. Thankfully the rest of his brain looked OK. This confirmed he did have MPHD as the normal chemical tests were not possible due to him presenting so dramatically when he was born.
We have been told to wait and see how Robert will develop, as he is overall an undiagnosed child, with MPHD as part of a wider suspected syndrome. We see him making excellent progress all the time and cannot wait to watch him grow and make more memories together as a family. We are sure as he grows his MPHD will present more issues, and we are thankful to have the CGF support group to consult for reassurance and advice. We are fortunate to receive excellent care for him at the Royal Victoria Infirmary in Newcastle.
As well as the CGF the following groups have been very helpful to me and I would recommend them if your child faces similar issues to Robert.
When Skye was born she was this perfect little bundle we had waited so long for, (six years to be exact). She was perfectly proportioned but petite at 6lb 71/2oz. As the weeks and months went on, we noticed that she was still perfectly petite, she had gained 5lb in six months.
In the first two months Skye had severe reflux diagnosed and we started weaning to try to help with how much she was bringing back. The following six months she only gained two pounds and we were now seeing a general paediatrician and dietitian. Skye was put onto a very high calorie diet and we started to be referred to other consultants to try to find out why she was failing to thrive.
At one Skye had gained a total of seven pounds and was still in 0-3 month baby clothes, she didn’t look ill, she didn’t seem ill. To be honest we were not too concerned at this point because she was just this amazing little person who was happy and meeting all her milestones. People would stop in the street and stare at her because she was so small and looked very young but she was walking and talking. We saw no end of specialists that her general paediatrician sent us to find out what was going on but we found no answers as to why she seemed unable to gain more than a few pounds.
At two years old Skye weighed 17lbs, she was still meeting her milestones and seemed happy and healthy. Our paediatrician referred us to our current endocrinologist, we walked in and she said ‘I know what’s wrong with her’ it was such a relief. Although she was happy and seemingly healthy, she had endured no end of testing from so many doctors to try to find out what was wrong, the relief was monumental. We were referred to Great Ormond Street to have her stimulation test. We went in February 2009, Skye was two and a half, we were admitted overnight and within a few hours of starting we were told that she produces next to zero growth hormone. They told us we needed an MRI to check her pituitary gland before starting growth hormone. We had the MRI done and were told that Skye’s pituitary gland is back to front and deformed. At this point we were told her other hormones seemed fine but to be prepared that they may fail over time.
It was a scary thing, although we had an answer, we also had this lingering dread that at any time she could lose one or all of her hormone production. We didn’t know what the future would hold and that was tough.
On Skye’s third birthday we started her growth hormone injections. It was so traumatic. Skye is needle phobic, as am I. It took both myself and my husband to pin her down to give her injections. We even tried strapping her into car seat in desperation. The first year was like a horror story. We felt like we were abusing her because she was so strong, and she was adamant she didn’t want them. She screamed, kicked, bit, scratched anything to get away. I cannot put into words how hard it was to do that to her.
After the first year we started using Emla cream, it was a game changer. Although she didn’t want them. she could now tolerate them.
At five Skye started saying she would do anything to stop the growth hormone treatment, I told her she had to talk to her doctor. We went to Great Ormond Street Hospital and she told them she wanted to stop, they responded by offering her any device she wanted. She was given all the DVDs to watch and asked to decide which one she wanted. Over the next week we watched them all and decided to go with the Easypod. We called them and they organised the delivery and training for it. It has made a huge difference to her treatment; 100% she would still stop tomorrow if she could, and asks at every clinic appointment when she can stop but it was what she needed; she needed to take control as much as anything.
At about six Skye started to get headaches regularly and was tired all the time. We had some bloods and confirmed her cortisol was low. Initially we were going to be given a two-week course of hydrocortisone and then wean off it, but during the two weeks she became a totally different child. We hadn’t realised how quiet and still she had gotten in the few months leading up to the trial. We agreed that Skye would stay on hydrocortisone permanently and that’s when she became steroid dependant.
The following five years were pretty uneventful, she had a couple of adrenal crises but generally, she was well.
In 2019 she began to collapse and go into adrenal crisis with no warning. This changed everything, she couldn’t go anywhere alone, she needed someone to be responsible for her injection wherever she went.
Thankfully, after she collapsed at a St. John Ambulance cadets’ summer camp, the doctors started to take it more seriously, previously they had suggested that she was having panic attacks. At camp the staff are all paramedics, nurses and other health professionals, so we knew that there was something more to it. After she was discharged from the hospital, they allowed her to go back to camp. I thought they were mad, but I trusted them and their ability to look after her.
They started to track her blood sugars and it showed that she was having hypoglycaemia. Even with this information it was hard to get anyone to take it seriously, after all her medications are supposed to help regulate blood sugars. Over the next six months we continued to monitor her sugars at home when she wasn’t feeling well or looked pale. In November her hypoglycaemia had gotten out of hand, she had collapsed without warning six times in total. Her sugars were in the ‘2s’ all the time. She was so lethargic and miserable. Her vision was also deteriorating. She was admitted and within 24 hours we were told that she has now also lost her thyroid function. We started treatment for that and discussed the hypoglycaemia with her team. We agreed that she would have a Libra monitor fitted to continually monitor her sugars for two weeks. It showed her low blood sugars so we decided that we would try to increase her growth hormone and maintenance hydrocortisone to see if that would help. Thankfully it has made a huge difference.
She is now dancing around the house, making a massive amount of noise, being generally annoying.
Now to the stuff that is going to make her cringe………. She has very early signs of puberty but at 13 1/3 I’m worried it’s stalled. It may be just that because other hormones were wonky it interrupted a bit but only time will tell.
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.
Ell was born by Caesarean section at 39 weeks . Ell weighed a normal healthy 3.500kg.
At 2 weeks old Ell was admitted to hospital. She had scalded skin syndrome. Ell was pumped with antibiotics and stayed in hospital for 5 days. She made a full recovery.
At 6 weeks old Ell was weighed by the health visitor, she only weighed 3.540kg. Ell had drop from the 50th centile to the 2nd centile. Ell was referred to a paediatrician at 14 weeks old. Ell now weighed 3.950kg and was not on the chart (She has never got back on the chart!!)
Ell was then admitted to hospital Full bloods and urine sample. (Looking back, it was very funny trying to get a 14 weeks old to wee in a pot. But she did first time, ever the pro.) Mid December her bloods test came back with low B12 and MMA (Methyl malonic Acid) in her urine. At 17 weeks old Ell started weekly B12 injections.
Great we have found the problem; she will now grow and put on weight!
6 weeks had gone by. Ell was now 6 months old and weighed 4.575kg. Different milk was the answer (I was still expressing milk, a 1litre a day. The freezer was full of my milk!) The new milk made her very ill. It did not stay in her that long! Luckily I did not stop expressing, so Ell went back on my milk.
March 2012, Ell only weighed 4.750kg. Her B12 levels were back to normal. No more weekly injection. Why had the B12 not worked? What is wrong with Ell? Countless Bloods was taken, ECG, MRI and a sweat test (Ironically, Ell couldn’t make enough sweat in the test. But at home, she was sweating all the time, dripping!) All came back clear.
10 months old and weighing in at 5.240kg. She was referred to the Genetics. For the first time Russell Silver Syndrome was mentioned, along with Growth Hormone deficiency.
Ells first Growth Stimulation test didn’t go to plan. Her blood sugars crashed and because of her age and size the test was stopped.
In the first year of Ell’s life she had managed to put on 2kg. Holiday time, Ell celebrates her first birthday in the south of France. For the first time in a year we as a family could just stop and have family time. The last year had hit my eldest son very hard. In the past year Ell had been admitted to hospital 9 times. We have now found ways to keep ourselves entertained. Cardboard sick bowls make very cool hats. Rubbers gloves are fabulous balloons.
September, a new school year. Will we finally get some answers?
Ells referral to genetic came through an 8 week wait! We also got Ells Growth Hormone Stimulation test results back. It flagged up border line Growth Hormone (GH) undetectable Insulin Like Growth Factor. (IGF1) Okay we are now getting some answers, or at least some clues to the puzzle. A referral to an Endocrinologist was made; it was a 3 month wait.
October, I found the Child Growth Foundation. I started to read up on GHD, IGF1 and Russell Silver Syndrome. Jointing the CGF Facebook page was my life line. I was not alone. More importantly Ell was not the only one!!!
Before I know it, Ells Genetic appointment was here. I was a bit clued up, as Ells Genetic nurse had phoned some time ago. At this point Ell was 15 months old weight 5.9kg. Walking into the appointment I had so many questions. Would I get all the answers? Would they just look at Summer and say yes Russell Silver. At the appointment Russell Silver was not ruled out. She fitted the syndrome. But her birth weight was normal (3.5kg) Photos of Ell were taken. A bone age X-ray was booked. As Ell already had Blood stored, the decision was made to test for Russell Silver Syndrome. We left with more question and less answers (That is always the way with Ell.)
While waiting for the RSS test results to come back, we had Ells first Endocrine appointment. 10th January Ells first endocrine appointment (Weight 6.6kg, but she was fully clothed.) They took a history of Ell. Talked about the results of the first Growth Stimulation test. Discussed the pros and cons of repeating the growth stimulation test. We would wait for the genetic results and wait till Ell was over 2 years.
Early February Ells results for the RSS test came back. Negative. We were then offered to carry out an array-CGH.
Array- CGH is an ultra-high resolution way of objectively and quantitatively detecting whether a patients DNA has losses (deletions) or gains (duplications) which are pathogenic and therefore explain their clinical problems.
It was now a waiting game. By September Ell was 2 years 1 month 72cm and 6.9Kg. 23rd September Ell was booked in for her Growth Stimulation test. (Round Two.) Ell was admitted over night to monitor her fasting blood sugars. The next day. (D Day) The test started at 10am. (Running late.) Ell had been fasting for 10hours; the test ran till 5pm. Ells blood sugars crashed to 2.1. She was given glucose, they rocketed to 17.5. She was stabilised and discharged that evening. Ell bounced back after a couple of days.
Early October and Ells array-CGH results was back. Nothing was found, So Ell was invited on the DDD Study.
The DDD study is for families who have a child with a developmental disorder whose cause is not known. Families taking part in the study have the opportunity to access the latest technologies to try and reach a diagnosis for their child.
We read through all the information on the study. We understood that getting answers for Ell would not be easy. We decided to go ahead and place Ell on the DDD study, we had nothing to lose.
Ells Results for her Growth Stimulation test came back. Normal GH, but her IGF1 was low less than 25. We had to wait till January for her next Endocrine appointment.
New Year, new beginnings, and answers?
The DDD pack came in the post. They collected DNA from your saliva. Mummy and Daddy had a spit off. Daddy won. Ell was not so easy. She had a lolly pop stick, with a sponge on it. She had to suck on the sponge. “No Mummy, NO, NO.” Light bulb moment. Ell had a Gruffalo onesie. We put the onesie on her, and she Gruffalo spat her way to getting a salvia sample. It was very funny. Off in the post they went. (We are still waiting on results.)
At Ells next endocrine appointment, (Ell was 2years 5 months 73cm 7.1kg) we talked about her low IGF1 and discussed a potential trail of GH for a year. We wanted to take some time to think about it. In this time I did lots a research into IGF1, to try and get a better understanding.
Four months on, Ell was now 2 years 9 months 74cm and 7.5kg. Ells growth velocity was 2.5cm a year. She was falling further away from the chart. 9cm of the bottom line. We decided to proceed with a trail of GH hoping it will increase her IGF1 levels and stimulate growth.
From the endocrine appointment in May to Ell starting GH, was exactly one month. Friday 13th was the day Ell started her GH ( Lucky or unlucky, you can decided.) A lovely Endocrine nurse came to our house. Pinchie pen training 1 on 1. Lucky to say we passed; and Daddy gave Ell her first pinchie pen. (Fingers were all crossed for it to work.) We had planned a weekend away months ago. So we decided Carpe diem. With one day of GH injections under our belts, we set of on our weekend break. ( Ice pack, check. Pinchies, check. Pen, check . Sharp box, check. ) It was the best idea we had. From that weekend, Ell understood pinchie pen was going to be all the time.
Weeks passed Ell learned that pinchie pen had GH in it, and that help her to grow. Ell learned to load up the pen, dial her dose. (0.4) counting 4 clicks as she turns the dial.
Now that Ell was on GH we felt ready to go to the CGF convention. It would be great for the boys to understand there are children like Ell. I guess we didn’t want to go before, as Ell was (Still is.) undiagnosed. Sounds silly I know.
The CFG convention was the best time, in a long time. I was still worried we would not fit in because Ell was undiagnosed. I now know I was being silly. We made some great friends. Found out lots of information.
Just before the CFG conference we had an appointment with Ells endocrinologist. Ell was getting very tired. (She slept through most of the talks at the convention.) Sleeping 2 hours in the day and 14 hours at night. Turns out Ell had low iron. Iron syrup sorted out the problem. This was also the week Ell started preschool. It’s not been easy for Ell. She hated going, but she got a lot better. (Less tears.)
We saw the Endocrinologist again in November, for the big weigh in. Has GH worked? Ell at 3 years 3 months was 78.9cm and 8kg!!!! That was 4.9cm and 500g in 6 months, fabulous. (It also had made her hair grow.) Happy dance all the way to the Coffee shop, Ell loves cake!!!
Early 2015, Ell was having dizzy spells. More bloods were taken. Ell ever the pro at this. Just puts out her hand all ready. (We only now have Ells paediatrician do her bloods. She has been messed about with so much, in her 6 years of life.) Low thyroxine (T4) levels came back. Her bloods were redone to make sure. She also had a 24hour ECG. Just to see what her heart was doing, when she had a dizzy spell. ECG was all clear. The second bloods came back again with low thyroxine levels. Ell has been on Levothyroxine for 3 years. It has helped so much.
Ell started School September 2015. We had all the meeting with the school SENCO coordinator. It’s was just a case of school uniform to make, buy and shrink!
Ell starts school at 87cm and 9.8kg. (Things were looking up!)
Ell started school part time, but Christmas she was managing full days. She is one very popular little girl. Especially in her custom design uniform.
One thing can honestly said about Ell, she never lets anything get in her way. Proud Mummy moment Ell is learning to Horse ride. It does not matter what size you are, nothing can stop you.
On the 30th March 2011, 11 weeks before his due date and weighing 820grams (1lb 13ozs), Michael made a dramatic entry into the world.
Two days earlier during a routine scan at Solihull hospital, the team discovered that Michael 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, Michael 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.
Michael 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 Michael. He appeared so fragile, his body covered in many wires and tubes. The nurses carefully took Michael 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 Michael 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, Michael started to tolerate milk and the Doctors decided that they would remove Michael’s TPN. Something was not right, I could see Michael’s heart rate increasing and his temperature rising on the monitors. Then Michael’s apnoea monitor sounded an alarm, Michael stopped breathing. Emma, the neonatal nurse gently rubbed his back and he started to breathe again. However, Michael stopped breathing again moments later, and having suspected an infection being caused from the TPN line, Emma had already summoned the doctor to assess Michael and address his condition. The Doctors and nurses immediately placed Michael back on to CPAP together with a course of antibiotics in order to fight the infection.
Michael needed to gain weight, this would be a slow process and was always commented upon by doctors during their rounds. Whilst in the incubator, Michael 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 Michael actually lost weight and the hospital assigned a dietician who decided that Michael should consume High Energy SMA.
Michael began increasing in weight with this new milk and was finally discharged from the hospital. Whilst at home, Michael continued with High Energy SMA. Although not a great feeder and being sick often, Michael did put weight on, finally achieving the 25th Centile.
Weaning Michael 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 Michael 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.
Michael’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. Michael never caught up with his peers.
At eighteen months old, Michael was no longer taking high energy SMA and instead he was given Fortini supplements. This continued to make Michael sick so we took the decision to stop the supplements. Michael still had support from the dietician until the age of three, but as Michael was at least eating regular meals, the dieticians felt there was nothing further they could do.
When Michael was younger he struggled to fight off infections. When returning home from my first ‘back to work’ day, I noticed that Michael 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 Michael to the Endocrinology team at Birmingham Children’s Hospital. We were really hoping that Michael would be discharged from his care (by this time all of the other children who I had met while Michael had been in hospital had been discharged). We never really questioned Michael’s growth before this, we knew he was smaller but there were some possible explanations. Firstly, Michael 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.
Michael’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 Michael 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 Michael was Growth Hormone Deficient, so a second test was arranged, the arginine test. The results of the second tests resulted in Michael being diagnosed as being Growth Hormone Deficient. On the 31st July 2015 Michael was injected with his first dose of growth hormone. The decision for growth hormone centred on wanting to give Michael 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 Michael by explaining to him why he requires growth hormone. Michael is fantastic with the injections, taking all in his stride without a single complaint.
An MRI scan arranged by the Endocrine team discovered that Michael has a small pituitary gland.
Michael 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. Michael’s health has dramatically improved, no sudden trips to A&E (touch wood) and no need for the frequent use of inhalers.
Michael’s 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, Michael struggles to push the pedals of a bike).
Michael 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 Michael had his first operation in which two cysts removed from his mouth. He was incredibly brave and the hospital were fantastic.
Michael 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 Michael and all of the various medical appointments or tests that Michael has to endure. Other five year olds do not realise that by calling Michael ‘small’ or ‘a baby’, it affects him and he’ll ask ‘Am I getting bigger? ’.
Michael 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.