Romana was born after an uneventful pregnancy, but a prolonged and difficult labour. She weighed 8lb 7oz, and was an extremely contented baby. She fed well and slept through the night from approximately ten weeks.

Romana was our first child, and we had very little idea of what to expect in terms of development. However, after a few months we did notice that she was reluctant to hold eye contact for any length of time and seemed unusually quiet for a baby of her age. Since she was still remarkably content and such an “easy” child, we counted our blessings.

However, when we realised that Romana was missing some of the major developmental milestones, we started to get slightly concerned. The paediatricians did not share our concerns, assuring us that she would catch up and it was not until she was still unable to walk at the age of 24 months that they started to take us seriously.

Romana eventually took her first steps at 26 months and was diagnosed with global developmental delay. There followed a period of several years during which Romana had a series of tests, all of which failed to provide any explanation for her delay. Inevitably, the first question asked by the paediatricians was, “Did Romana have a difficult birth?” However, when asked whether this might be a possible explanation for her problems, they were adamant that this would not be the case. We became quite frustrated by this response and never did establish why they kept asking a question that they considered to be irrelevant.

We soon realised that since Romana’s development was well behind that of her peers, we should start to think about the various options for her education. We were living in Dorset at the time and when Romana was three years old, we managed to get her a statement of special educational needs and she was given a place in a school for children with moderate learning difficulties.

She enjoyed school and transferred to another special school when we moved to Hampshire in 1996. Throughout this time, Romana remained a happy child, and apart from the usual childhood illnesses, she enjoyed exceptionally good health. Although we were still worried about her lack of progress (was it our fault in any way?), Romana was probably happier and healthier than the average child.

By the age of six, Romana was able to talk quite well and was making good progress with reading and writing. It was at this time that we made a very significant breakthrough. When we took Romana to see a new paediatrician for a regular developmental check, he immediately suspected that she may have Sotos Syndrome and referred her to Dr Trevor Cole. Although Romana has most of the clinical features of Sotos Syndrome, she does not have some of the characteristic facial features and Trevor Cole diagnosed her as a probable case of Sotos.

Although in some ways it was very reassuring that we now had an explanation for the delayed development, we soon realised that a “label” made no difference whatever to Romana and that she would continue to progress at her own pace and be the same happy child that she had always been.

Unfortunately, at about the same time that we had the diagnosis, Romana started to have epileptic seizures. The first fit was alarming and took us completely by surprise. She had a grand mal seizure that lasted almost half an hour and culminated in her stopping breathing and turning blue. That was the start of a series of fits that lasted for approximately two years, although none of the subsequent fits were as severe. Romana was prescribed Tegretol in an effort to control the epilepsy but she seemed to “grow out” of the condition and has now been completely free of fits for almost six years and no longer takes any medication.

Approximately two years ago we sent blood samples to Dr Rahman for genetic analysis. However, the genetic abnormalities associated with Sotos Syndrome could not be detected and Romana is therefore one of the many children who show clinical symptoms of Sotos but for whom a genetic cause cannot be found.

Romana is about to start her second year as a teenager and is now making up for her lack of verbal communication in her early years, with very firm opinions on many issues. Her rate of growth has slowed considerably and I suspect that her adult height will be approximately 5’ 9” and that her younger sister will probably be taller. Romana is still rather immature and tends to have little appreciation of potential dangers (traffic, strangers etc). She prefers the company of adults or much younger children but is a popular member of her class.

It is too soon to know whether Romana will be able (or wish) to live completely independently as an adult but we are now optimistic that she will be able to make informed choices and lead a happy and fulfilling life.


Posted on

March 17, 2017