Eve's Story (By Eve's Dad):

My lovely 2nd daughter Eve was born 16th September 2008. Before birth at a 12wk Neuchal fold scan the specialist couldn't find a nasal bone, and it was put down as a risk factor for down's syndrome but only minor. Eve was born at 37wks by emergency caesarian section after failure to thrive in utero. She had a crazy shock of black hair, and was a borderline 5lb4oz in weight therefore not needing to go to Neo-natal care. Right from the start she had problems feeding, wouldn't latch on and when she did, had choking episodes (milk coming out of her nose, her eyes rolling up into her head, her skin turning blue and her body stiffening up, scary in a 5lb baby!). Comments from Peadiatricians were along the lines of "babies rarely die from choking", not much reassurance.

Her initial paediatric assessment showed a number of markers; Single Palmar creases, a Heart Murmur and an unusual appearance and high-pitched cry for a newborn. Follow ups led to nothing with consultants in these areas. Feeding remained an issue throughout her first 8 months, she slept solidy for the first few weeks, needing to be woken to feed by us setting alarms, tickling her feet and flicking her legs to keep her awake to feed. Later on she had chronic reflux, back arching, choking and very poor growth. Her sleep was affected by hunger, not being able to feed to satisfaction. Monitoring of growth was patchy and incosistent at best between midwives, health visitors etc. So a growth chart was never consistently filled in properly. There was never a consensus on how the fact she was born 3wks early should be taken into account. Incidently she was 2 lines below the 0.4th percentile on the red-book growth chart for her first year. We had lots of visits to A&E, GPs etc. over the months with feeding/choking and growth concerns, and a follow up for the Heart murmur was diagnosed as innocent and not of concern. Her cry remained unusual, high pitched to the point of painful and a consistent part of our night times!

At this point my wife and I spent most evenings on Google, feeling that there might be something underlying her problems, although not serious in themselves as a whole they seemed to be pointing at something. The Single Palmar creases stuck in the back of my mind personally and the link this has with Chromosomal conditions. At this stage, we actually ended up coming to the conclusion that there could be a genetic cause to this, shortlisting William's Syndrome, Cri-du-Chat and RSS based on her symptoms. It was a horrible feeling, almost guilt, thinking something could be wrong with our little angel. We were told often that we were over-analysing, over-googling and worrying unduly, both by parents/friends and the medical profession. Eve by now was smiling, interacting properly with us and had moved to solid food.

Eventually we were told in one session by a Health worker that we should stop once and for all and let Eve develop without us worrying. We didn't touch google for another 6 months. Then our 3rd child was born, Lara, she was the spitting image of our first, 8lb4, 97th percentile for length, fed tremendously and grew well. At this point the googling started again about Eve and we decided to document everything and see our GP with everything we had ever observed written down. At the same time we discovered the Child Growth Foundations website in searches for RSS (Russell Silverman Syndrome) and references to a Dr. Richard Stanhope, so we also booked a private consultation with him as a consultant Endocrinologist. We had an appointment with a fantastic GP who listened to us and even spotted her high-pallette, oedema (puffiness) and really saw the holistic picture of her symptoms.

A referral was made to a Paediatrician and an appointment set a few months later. In the meantime we saw Dr. Stanhope on a private basis, tests were run and in his opinion after a brief examination she was 99% a Turner's child. The Karyotyping (chromosome test) came back and confirmed that Eve had a Karyotype of 46Xi(Xq)(10) a rare isoChromosome form of Turners that affected all her cells.

A mixture of relief and emotion followed. 100 questions were answered but 100 more came to mind. We had a diagnosis, privately obtained, and needed to get back into the NHS system to follow a plan of management, the initial NHS appointment was still months away. We had a Heart scan privately to put to rest concerns about her heart murmur. Eventually, Eve was taken under the care of a local consultant and a management program is underway.

Eve is bright, incredibly energetic, the most enagaging and charismatic child I have come across, she is the center of attention everywhere she goes, making everyone she meets smile. I can't imagine life without her. She is in equal measure frustrating, single minded, tempestuous and tires us out. She will be 3 in september, is responding to her growth hormone and the outlook for her is excellent. We think she may have some issues with attention, but she is settling into a normal playgroup (with the odd "incident", plenty of time on the naughty chair etc.) but her teachers love her and she is thriving in the environment. She can count to 20, her vocabulary is excellent and she loves doing puzzles, is fearless, does somersaults (gymnast?), swims like a fish, she's already out of nappies in the night time and is empathetic, caring (She'll push a kid over but hug them afterwards!). She's our miracle and we love her impossibly.