Jake

Jake’s Story

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.