Fighting for A Growth Hormone Deficiency Diagnosis
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 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….
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 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.
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.
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.