My journey with my daughter Rose

My journey with my daughter Rose

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I am a mother to three children with my husband Anthony, and our second child, Rose (born in 2005) has Noonan Syndrome. Rose has two brothers.

Diagnosis

Rose had a healthy birth weight (3.27 kg) but by 12 weeks her weight had dropped from 25th to 2nd percentile which started to cause concern, despite breast-feeding well. Her heart murmur was detected at 4 months when she had a chest infection, so was referred to the paediatric cardiologist at Addenbrooke’s hospital, Cambridge. It was confirmed that she had pulmonary valve stenosis and with her small body size, abnormal face shape and widely-spaced eyes, he suspected Noonan Syndrome. The consultant suggested that we could have Rose tested for the diagnostic gene at the time, which could only account for about 50% of those affected, so as a scientist I needed to try. This was confirmed at 14 months, showing she had a sporadic mutation in the PTPN11 gene (not inherited from me or my husband).

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 is now 5 ft 1 in (presently age 15). She will continue to receive growth hormone until she stops growing at the end of puberty.

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 monitor her height and weight, and also see 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.

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 continues to enjoy Guides.   

I hope that she can continue to be happy and healthy, and live independently. Hopefully with the correct support at school she will achieve in her English and Maths GCSEs sufficiently so she can go to college and study a course that interests her. She has chosen to study BTEC Child Development for the next 2 years so has already formed an idea to work with young children in a nursery. She has always been very caring with young children so this would suit her very well.

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