Growth problems and treatment
Her length dropped to the 0.4th percentile just after the age of 6 months, and had even fallen below this level by 4 years. Consequently, she was recommended for referral to the endocrine clinic, with a view to her being treated by daily injections of growth hormone. This was eventually approved by the Primary Care Trust in February 2012 and so she started receiving it at the age of 6 ½ years. With this treatment, she has made steady progress in her height. By 8 years it had increased to the 2nd percentile, and then to the 9th (the lower end of her target height according to her parents’ height) by age 10. She has been following this line since and finally achieved 5 ft 2 inches. She continued to receive growth hormone until she stopped growing and reached puberty aged 16.
It was initially hard to imagine having to give Rose an injection every day for many years. Fortunately, we had a fantastic endocrinology department at Addenbrooke’s who gave us lots of practical information on the different devices that we could use to administer the growth hormone. We could practice using the devices with injecting water into an orange, and were shown how to load the hormone cartridge into the pen and how to attach the needle. We were given plenty of illustrated instructions and even a DVD with the actual device.
When we first started giving the growth hormone injections to Rose, she was of course slightly distressed, but we found that she was soon used to the procedure and became part of her bedtime routine. She enjoyed choosing a sticker to put in her book as a reward each night.
Once the routine had been established, it was merely a case of attending each endocrinology appointment, eventually every 6 months. They monitored her height and weight, and also saw a consultant to check her general development and any potential side effects.
Her length dropped to the 0.4th percentile just after the age of 6 months, and had even fallen below this level by 4 years. Consequently, she was recommended for referral to the endocrine clinic, with a view to her being treated by daily injections of growth hormone. This was eventually approved by the Primary Care Trust in February 2012 and so she started receiving it at the age of 6 ½ years. With this treatment, she has made steady progress in her height. By 8 years it had increased to the 2nd percentile, and then to the 9th (the lower end of her target height according to her parents’ height) by age 10. She has been following this line since and finally achieved 5 ft 2 inches. She continued to receive growth hormone until she stopped growing and reached puberty aged 16.
It was initially hard to imagine having to give Rose an injection every day for many years. Fortunately, we had a fantastic endocrinology department at Addenbrooke’s who gave us lots of practical information on the different devices that we could use to administer the growth hormone. We could practice using the devices with injecting water into an orange, and were shown how to load the hormone cartridge into the pen and how to attach the needle. We were given plenty of illustrated instructions and even a DVD with the actual device.
When we first started giving the growth hormone injections to Rose, she was of course slightly distressed, but we found that she was soon used to the procedure and became part of her bedtime routine. She enjoyed choosing a sticker to put in her book as a reward each night.
Once the routine had been established, it was merely a case of attending each endocrinology appointment, eventually every 6 months. They monitored her height and weight, and also saw a consultant to check her general development and any potential side effects.
Other health problems and support
Rose was very fortunate with her heart condition in that no intervention was necessary and she has essentially ‘grown out’ of the problem, and only needed monitoring. She also had developmental delay, with physical and cognitive problems. She did not walk until 22 months. She had physiotherapy for a while to help with poor muscle tone, hypermobility and low co-ordination. Her eyesight needed correcting with glasses for short-sightedness and patching for her lazy eye. She also had speech therapy. By the age of 7 it was obvious she was struggling in academic subjects. She would also exhibit some extreme behaviour at home in particular, having some aggressive outbursts. She was assessed by a clinical psychologist at age 10 who concluded that she indeed has significant cognitive problems and executive functioning difficulties. She has dyslexia and dyscalculia, and ADHD-like issues. She has an IQ of 77 (borderline disabled). Largely on the strength of this assessment, I applied for her to obtain an Education Health Care Plan so that she has 1:1 help at mainstream secondary school from a TA with her work differentiated to allow her to access the curriculum. As a result of this we have received further help for her from our council’s children’s disability service and to finally receive Disability Living Allowance (and now Personal Independence Payment).
Realising her potential
Despite her difficulties, I am sure that Rose’s poor growth would not have stopped her from doing what she wants in life, she is so determined in character! However, I was concerned that with her other problems she really would not reach her potential. So I researched about how growth hormone had previously been used in patients with Noonan Syndrome and found that some good results had been achieved. I really believe that growth hormone has also helped her with some other problems she had, particularly poor muscle tone, which has considerably improved for her. She has been participating in dance classes for a number of years and recently achieved her first exam in Street Dance with Highly Commended. Her confidence has increased with her mastering such a skill, and hence her potential will improve. She has also enjoyed helping the younger children in her dance school and has also coached in her gymnastics club. She continued to enjoy Guides, and became a Young Leader for Rainbows for a year.
At college she studied a vocational course in Early Years Childcare, along with further support in her English and Maths GCSEs, as she had already formed an idea to work with young children in a nursery. She has always been very caring with young children so we thought this would suit her very well. She has now started her dream career and is working in the nursery where she did her placement, which she really enjoys (especially caring for the babies). She was eligible for the ’Access to Work’ scheme from the government and has support in place, including travel expenses. Initially this was taxi fares as there is no bus service. She has been learning to drive for the last year and a half and although the theory test was rather challenging for her she got there in the end and has recently passed her the practical test first time – we are so proud of her!
I hope that she can continue to be happy and healthy, and live independently. I am sure she will continue to have a good network of friends. I hope that she will be confident enough to advocate for herself about her condition.
Jeanette Dyer
