Lilli’s Story

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Lilli was born in March’04 joining her 5-year-old brother by elective caesarean at 34 weeks. We had had fertility treatment for her and from week 5 our scans suggested she was ‘small for dates’ we plodded along till the 20 week scan, this was a standard anomaly scan as they didn’t do a nucal as standard the test in Brighton. Our reason for the scan like most of you reading this was so we had another opportunity to see ‘our’ baby. We certainly had not had any discussion how we would feel if things weren’t as they should be. We found out we were having a girl and then they dropped the bomb shell, she was at least 6 weeks smaller than she should be, in proportion but tiny. They told us she was unlikely to survive and go to term, it was New Years Eve!

We had a very tearful few days and when everyone returned from his or her Christmas break we went to see our obstetrician to discuss things. She offered us an amino but following discussion we decided that this wasn’t an option. We weren’t really presented the possibilities in a positive way-the only option that we seemed to be being offered was to find out if something was wrong and terminate if this was the case, ironically we now know that Lillis specific chromosome abnormality probably wouldn’t of been detected. Perhaps naively we believed everything was going to be okay. We agreed to weekly scans and dooplers and tried to hold on till she was 2lb when they would deliver her.

The scans continued and to everyone’s surprise and our huge relief she continued to grow though always at least 6 weeks behind her expected targets.  However, they were concerned that she was ‘struggling’ and from week 30 we were on standby. Kieron was desperately trying to finish our house and whilst holding up a piece of plasterboard got the call from our local neonatal unit at 34 weeks to say they had an incubator and the consultant was around so I was to be in at 2pm for a caesarean later that day.

Lilli was born on Saturday 27th March 2004 at 5.15 weighing 3lb 4oz. The details of her birth are etched in my memory and still so clear they were horrific and my experience had a massive impact on the choices I made with our 3rd Child. I saw her very briefly and she was taken to the neonatal unit and I went to the postnatal ward. I was in a lot of pain unable to move and no baby! They took me to see her on the Sunday but unfortunately once I got there and saw just how small she was I was sick and they sent me back to the ward. I saw her that evening and spent some time with her. I went home without her after 3 days.

She was tiny and no obvious ‘syndromic markers’ so the feeling was that she just needed to get bigger and stronger and everything would be okay. They sent off some bloods for genetic testing to be ‘safe’. Over the next couple of weeks she came off oxygen and was moved from the ITU neonate to their ‘nursery’ she was doing well in all areas but weight, she’d dropped to under 3lb’s.

The day she was diagnosed started much like the other days we were in the ‘nursery’, we were expecting the results to come in any day and whilst she was doing well needed to get the all clear to relax. Kieron was with me and we’d seen our consultant around the ward, but he was avoiding eye contact. Then he approached us and I knew instantly something was wrong. He asked us to put Lilli back in her incubator and come with him. I couldn’t physically put her down and just held her so tight I’m surprised I didn’t crush her. He told us that she had a rare chromosome disorder called tetrasomy 18p. He hadn’t heard of it before and couldn’t really tell us much other than she would be significantly disabled. He gave us some research articles and the details of charity called ‘unique’ that provide information and support to parents of children with rare chromosome disorders.

We phoned my parents and they disseminated the news, part of the problem was that we couldn’t answer their questions and had so many going round our own heads. The information we were given was less than positive and suggested that she would have difficulties in every area including not being able to sit, and significant facial deformities.

We fought to get her home, as they wanted her to be much bigger. I argued that she need to be nurtured and the best way was to have her at home, I was emotional and Kieron discussed the option rationally with the consultant. She was allowed homing weighing 3lb 11oz. She came home with an NG tube and being given expressed breast milk. After about 4/5 weeks at home I got fed up with being a milking machine and decided to go to full breast-feeding or to go to formula. My health visitor was fantastic and very experienced she had a way of talking about Lilli that made her feel special and beautiful not odd and interesting case like they did in the neonatal unit.  Once in the hospital they were doing the usual daily ward round were she was always of interest and some ignorant SHO pointed at her ears looked at me directly and said ‘look funny ears’ with a chuckle, as you can imagine that was the point in which I demanded that she come home. After a week she was fully breast-fed and beginning to gain weight at a better rate.

We continued to plod along and we found out more about the condition from unique and met with another couple that had a child 2 years older than Lilli. In that 1st year they were a great support. I spent a ridiculous amount of time crying with my moods very up and down. I think the best way to describe it was grief stricken I couldn’t believe the little girl I’d longed for to complete our family was learning disabled. Unfortunately, at the time but I think now is a great benefit I was a learning disability nurse and had been working with children and adults with Learning disabilities since I was 16. The reality for me of her future was hard to comprehend and probably more pessimistic than I should have been. I still have a tendency to be quite negative about her future. The usual worries that we all have for our children are definitely amplified if they have a disability.

We moved to Surrey shortly before Lilli was 1. We started at JOG in the April just after her 1st b’day. That was bizarre-I can remember holding back the tears all session and even now the hello song can tip me if I’m feeling wobblyJ. I think the most overwhelming thing was the fact that I didn’t feel so different it was safe. I’d been part of mother and baby group in Brighton and whilst they were a lovely bunch of girls I had begun to drift after about 6 months when their children started to progress very quickly and I was struggling to get eye contact from Lilli

I don’t think she made much progress in the 1st year and remember thinking if children develop the most in the 1st year then Lilli was to have some huge struggles.

Thankfully that’s not been the case for Lilli and she has made huge progress especially the last 3 years.