Naomi Smith
My 9-year-old daughter Naomi has Marfan syndrome and scoliosis. This is a short account of her journey so far with me, Mum Rachel, and Dad Richard; not forgetting her younger brother Luke who is 7 years old.
In 2002 Naomi was seen by an orthotic team who diagnosed sever hyper mobile joints in her feet and in the rest of her body. She was fitted with foot supports and the suspicion that something else was wrong led us to ask for tests for Marfan syndrome. The only reason we asked was because l had worked with two patients with the syndrome while working as a
dietician for the NHS for 15 years, and I
recognised the signs.
We were first seen at a hospital in London in late 2002; Naomi had a mild curve in her spine which was less than 10 degrees. By January, 2004, her curve had reached over 30 degrees, when bracing was required. To try to slow down progression of the scoliosis she started to wear a spinal brace (TLSO) in the hope that the curve wouldn’t get any bigger. She now has a collection of brightly coloured braces—nine of them so far!
After heart tests and eye tests during 2003 the results from the genetic test came back in late 2004, and she was diagnosis with Marfan syndrome. Since her spine had already started to twist, the confirmation of Marfan’s was not a surprise but was still a shock. In July, 2007, Naomi was seen by a specialist in the Marfan team in Oxfordshire. Her previous heart tests had been done locally in London by a cardiologist and had shown little change, but at our first visit to the clinic she showed widening of her aorta, and a prolapsed mitral valve. She was started on beta-blockers straight away.
In November, 2007, her scoliosis surgeon advised us that her curvature had now reached 75 degrees, the point at which surgery was necessary, and the curve was crushing one of her lungs meaning that her lung function had dropped to 38%. We moved house before Christmas, 2007, settled into our new home, the children started new schools, and the journey to correct the scoliosis by metal growth rod implants began…
Day 1
Bed two in the Children’s ward. Time to relax and orientate ourselves around the hospital. X-rays and an MRI scan.
Day 2
Naomi went into Theatre at 8.30am. A long day waiting…6 hours later we were called to say Naomi was in the high-dependency unit (HDU). Lots of tubes and monitoring but safe and breathing for herself.
Day 3
Tooth fairy came for a wobbly tooth that needed pulling out!
Day 5
Naomi went from HDU back to the children’s ward.
Day 9
Plaster theatre for a new brace
Day 10
Fitting of the brace
Day 11
Up at last. She could stand but was very wobbly for a few days.
Day 14
Discharged from the ward and home to rest.
4 months from discharge, Naomi returned to the hospital to have the rods extended, to keep her growing spine straight. It was a shorter stay in hospital, 8 days with a week before returning to school full time. These extension operations have continued and she has now had six operations on her spine. These will be repeated ten or more times until she stops growing; then her spine will be fused and permanent rods will be fixed to her spine.
Scoliosis and Marfan’s have been a hard diagnosis to embrace. Partly because there is no cure to take it away, so as a family you need to learn how to accept it. As a Mum it took me about 5 years before the tears stopped. They would come and go for all sorts of reasons. A bouncy castle at a fete that I had to say no to, to my keen 7-year-old; the last swimming lesson before the operations started - so glad she had been swimming since she was 3 months old, because now it looks as if she might not be allowed to swim until she has her rods fixed in a few years time; not being sure about where to go on holiday – what if something happens to the rods and we are a long way from the hospital? - getting used to the frequent hospital visits, the staff, the wards, the new brace, and shopping for yet more clothes to fit over them. And then happy tears, as we call them, often come too when Naomi is on the stage at the final show in the village drama and has coped with all the rehearsals; at school assemblies when she stands proud with her classmates who have accepted her brace and the frequent absences for hospital visits; when she paints a great picture or enjoys a walk in the hills splashing in the springs. We have really valued the support of SAUK and the Marfan Association www.marfan-association.org.uk.
Naomi has her own blog, if you would like to read about her personal journey in more detail please go to: www.spineop.blogspot.com. Naomi’s blog has had over 16000 hits so far (end of 2009). From there you can follow the link to her You Tube videos. We hope in doing our blog and the You Tube video that we can help others prepare for what is a long journey and to know that you are not alone.